Human Phenotype Ontology 
Grandparent Node:
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Abnormal peripheral nervous system morphology (HP:0000759)help
Parent Node:
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Peripheral axonal degeneration (HP:0000764)help
Parent Node:
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Peripheral neuropathy (HP:0009830)help
..Starting node
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Peripheral axonal neuropathy (HP:0003477)help
Term ID: 3477
Name: Peripheral axonal neuropathy
Synonym: Axonal neuropathy; Axonal peripheral neuropathy
Definition: An abnormality characterized by disruption of the normal functioning of peripheral axons.
Comments:
Reference: HP:0003477
Genes and Diseases:
 
       Child Nodes:
........expandSensory axonal neuropathy (HP:0003390) help
........expandMotor axonal neuropathy (HP:0007002) help
........expandChronic axonal neuropathy (HP:0007267) help

 Sister Nodes: 
..expandAcute episodes of neuropathic symptoms (HP:0003489) help
..expandChronic sensorineural polyneuropathy (HP:0001301) help
..expandCongenital peripheral neuropathy (HP:0006903) help
..expandDemyelinating peripheral neuropathy (HP:0007108) help
..expandEntrapment neuropathy (HP:0012181) help
..expandEpisodic peripheral neuropathy (HP:0006949) help
..expandMixed demyelinating and axonal polyneuropathy (HP:0007327) help
..expandMononeuropathy (HP:0009831) help
..expandMotor polyneuropathy (HP:0007178) help
..expandPolyneuropathy (HP:0001271) help
..expandProgressive peripheral neuropathy (HP:0007133) help
..expandSensorimotor neuropathy (HP:0007141) help
..expandSensorimotor polyneuropathy affecting arms more than legs (HP:0006865) help
..expandSensory neuropathy (HP:0000763) help
..expandSomatic sensory dysfunction (HP:0003474) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003477HP:0003477Peripheral axonal neuropathy0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0003477HP:0003477Peripheral axonal neuropathy0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0003477HP:0003477Peripheral axonal neuropathy0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N.
HP:0003477HP:0003477Peripheral axonal neuropathy0ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040282 - Frequent191
HP:0003477HP:0003477Peripheral axonal neuropathy0ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0003477HP:0003477Peripheral axonal neuropathy0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional245
HP:0003477HP:0003477Peripheral axonal neuropathy0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040282 - Frequent135
HP:0003477HP:0003477Peripheral axonal neuropathy0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0003477HP:0003477Peripheral axonal neuropathy0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0003477HP:0003477Peripheral axonal neuropathy0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0003477HP:0003477Peripheral axonal neuropathy0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0003477HP:0003477Peripheral axonal neuropathy0AIFM1 CL E G H91318768OMIM:310490Cowchock syndrome60
HP:0003477HP:0003477Peripheral axonal neuropathy0AIFM1 CL E G H91318768OMIM:300614Deafness, X-linked 560
HP:0003477HP:0003477Peripheral axonal neuropathy0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathy60
HP:0003477HP:0003477Peripheral axonal neuropathy0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0003477HP:0003477Peripheral axonal neuropathy0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0003477HP:0003477Peripheral axonal neuropathy0ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 22
HP:0003477HP:0003477Peripheral axonal neuropathy0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0003477HP:0003477Peripheral axonal neuropathy0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040282 - Frequent5
HP:0003477HP:0003477Peripheral axonal neuropathy0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0003477HP:0003477Peripheral axonal neuropathy0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 171
HP:0003477HP:0003477Peripheral axonal neuropathy0ATL1 CL E G H5106211231OMIM:613708Neuropathy, hereditary sensory, type ID.71
HP:0003477HP:0003477Peripheral axonal neuropathy0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 15
HP:0003477HP:0003477Peripheral axonal neuropathy0ATL3 CL E G H2592324526OMIM:615632Neuropathy, hereditary sensory, type IF5
HP:0003477HP:0003477Peripheral axonal neuropathy0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0003477HP:0003477Peripheral axonal neuropathy0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0003477HP:0003477Peripheral axonal neuropathy0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0003477HP:0003477Peripheral axonal neuropathy0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0003477HP:0003477Peripheral axonal neuropathy0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegiaHP:0040282 - Frequent
HP:0003477HP:0003477Peripheral axonal neuropathy0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040283 - Occasional14
HP:0003477HP:0003477Peripheral axonal neuropathy0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional99
HP:0003477HP:0003477Peripheral axonal neuropathy0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1HP:0040283 - Occasional276
HP:0003477HP:0003477Peripheral axonal neuropathy0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0003477HP:0003477Peripheral axonal neuropathy0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0003477HP:0003477Peripheral axonal neuropathy0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0003477HP:0003477Peripheral axonal neuropathy0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0003477HP:0003477Peripheral axonal neuropathy0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0003477HP:0003477Peripheral axonal neuropathy0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0003477HP:0003477Peripheral axonal neuropathy0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegenerationHP:0040281 - Very frequent16
HP:0003477HP:0003477Peripheral axonal neuropathy0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0003477HP:0003477Peripheral axonal neuropathy0COG8 CL E G H8434218623ORPHA:95428COG8-CDG39
HP:0003477HP:0003477Peripheral axonal neuropathy0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0003477HP:0003477Peripheral axonal neuropathy0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0003477HP:0003477Peripheral axonal neuropathy0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10159
HP:0003477HP:0003477Peripheral axonal neuropathy0CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 56HP:0040283 - Occasional18
HP:0003477HP:0003477Peripheral axonal neuropathy0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0003477HP:0003477Peripheral axonal neuropathy0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040283 - Occasional60
HP:0003477HP:0003477Peripheral axonal neuropathy0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0003477HP:0003477Peripheral axonal neuropathy0DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant.2
HP:0003477HP:0003477Peripheral axonal neuropathy0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessiveHP:0040283 - Occasional35
HP:0003477HP:0003477Peripheral axonal neuropathy0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency57
HP:0003477HP:0003477Peripheral axonal neuropathy0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0003477HP:0003477Peripheral axonal neuropathy0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003477HP:0003477Peripheral axonal neuropathy0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional167
HP:0003477HP:0003477Peripheral axonal neuropathy0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13HP:0040283 - Occasional427
HP:0003477HP:0003477Peripheral axonal neuropathy0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34HP:0040284 - Very rare62
HP:0003477HP:0003477Peripheral axonal neuropathy0ELOVL5 CL E G H6048121308OMIM:615957Spinocerebellar ataxia 38HP:0040283 - Occasional4
HP:0003477HP:0003477Peripheral axonal neuropathy0ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0003477HP:0003477Peripheral axonal neuropathy0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0003477HP:0003477Peripheral axonal neuropathy0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0003477HP:0003477Peripheral axonal neuropathy0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0003477HP:0003477Peripheral axonal neuropathy0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0003477HP:0003477Peripheral axonal neuropathy0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0003477HP:0003477Peripheral axonal neuropathy0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0003477HP:0003477Peripheral axonal neuropathy0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0003477HP:0003477Peripheral axonal neuropathy0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 2747
HP:0003477HP:0003477Peripheral axonal neuropathy0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent
HP:0003477HP:0003477Peripheral axonal neuropathy0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0003477HP:0003477Peripheral axonal neuropathy0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0003477HP:0003477Peripheral axonal neuropathy0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040282 - Frequent30
HP:0003477HP:0003477Peripheral axonal neuropathy0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0003477HP:0003477Peripheral axonal neuropathy0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form.86
HP:0003477HP:0003477Peripheral axonal neuropathy0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional237
HP:0003477HP:0003477Peripheral axonal neuropathy0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003477HP:0003477Peripheral axonal neuropathy0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0003477HP:0003477Peripheral axonal neuropathy0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0003477HP:0003477Peripheral axonal neuropathy0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0003477HP:0003477Peripheral axonal neuropathy0GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0003477HP:0003477Peripheral axonal neuropathy0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003477HP:0003477Peripheral axonal neuropathy0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0003477HP:0003477Peripheral axonal neuropathy0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0003477HP:0003477Peripheral axonal neuropathy0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0003477HP:0003477Peripheral axonal neuropathy0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive12
HP:0003477HP:0003477Peripheral axonal neuropathy0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040281 - Very frequent11
HP:0003477HP:0003477Peripheral axonal neuropathy0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0003477HP:0003477Peripheral axonal neuropathy0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia31
HP:0003477HP:0003477Peripheral axonal neuropathy0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia5
HP:0003477HP:0003477Peripheral axonal neuropathy0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0003477HP:0003477Peripheral axonal neuropathy0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F47
HP:0003477HP:0003477Peripheral axonal neuropathy0HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L.38
HP:0003477HP:0003477Peripheral axonal neuropathy0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040281 - Very frequent16
HP:0003477HP:0003477Peripheral axonal neuropathy0IBA57 CL E G H20020527302OMIM:616451Spastic paraplegia 74, autosomal recessive.16
HP:0003477HP:0003477Peripheral axonal neuropathy0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 18HP:0040283 - Occasional1
HP:0003477HP:0003477Peripheral axonal neuropathy0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional62
HP:0003477HP:0003477Peripheral axonal neuropathy0KARS1 CL E G H37356215OMIM:619196DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0003477HP:0003477Peripheral axonal neuropathy0KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040283 - Occasional121
HP:0003477HP:0003477Peripheral axonal neuropathy0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0003477HP:0003477Peripheral axonal neuropathy0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional127
HP:0003477HP:0003477Peripheral axonal neuropathy0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0003477HP:0003477Peripheral axonal neuropathy0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9HP:0040283 - Occasional276
HP:0003477HP:0003477Peripheral axonal neuropathy0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessiveHP:0040282 - Frequent276
HP:0003477HP:0003477Peripheral axonal neuropathy0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0003477HP:0003477Peripheral axonal neuropathy0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040282 - Frequent93
HP:0003477HP:0003477Peripheral axonal neuropathy0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0003477HP:0003477Peripheral axonal neuropathy0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent1
HP:0003477HP:0003477Peripheral axonal neuropathy0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040284 - Very rare3
HP:0003477HP:0003477Peripheral axonal neuropathy0KRAS CL E G H38456407OMIM:615278Cardiofaciocutaneous syndrome 2196
HP:0003477HP:0003477Peripheral axonal neuropathy0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0003477HP:0003477Peripheral axonal neuropathy0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003477HP:0003477Peripheral axonal neuropathy0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U.
HP:0003477HP:0003477Peripheral axonal neuropathy0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.3
HP:0003477HP:0003477Peripheral axonal neuropathy0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003477HP:0003477Peripheral axonal neuropathy0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0003477HP:0003477Peripheral axonal neuropathy0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signsHP:0040283 - Occasional14
HP:0003477HP:0003477Peripheral axonal neuropathy0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040283 - Occasional14
HP:0003477HP:0003477Peripheral axonal neuropathy0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040281 - Very frequent18
HP:0003477HP:0003477Peripheral axonal neuropathy0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0003477HP:0003477Peripheral axonal neuropathy0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0003477HP:0003477Peripheral axonal neuropathy0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0003477HP:0003477Peripheral axonal neuropathy0MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1BHP:0040282 - Frequent134
HP:0003477HP:0003477Peripheral axonal neuropathy0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional7
HP:0003477HP:0003477Peripheral axonal neuropathy0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0003477HP:0003477Peripheral axonal neuropathy0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0003477HP:0003477Peripheral axonal neuropathy0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional19
HP:0003477HP:0003477Peripheral axonal neuropathy0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0003477HP:0003477Peripheral axonal neuropathy0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003477HP:0003477Peripheral axonal neuropathy0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040281 - Very frequent118
HP:0003477HP:0003477Peripheral axonal neuropathy0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0003477HP:0003477Peripheral axonal neuropathy0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndrome214
HP:0003477HP:0003477Peripheral axonal neuropathy0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0003477HP:0003477Peripheral axonal neuropathy0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional30
HP:0003477HP:0003477Peripheral axonal neuropathy0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiency75
HP:0003477HP:0003477Peripheral axonal neuropathy0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0003477HP:0003477Peripheral axonal neuropathy0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0003477HP:0003477Peripheral axonal neuropathy0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0003477HP:0003477Peripheral axonal neuropathy0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 311
HP:0003477HP:0003477Peripheral axonal neuropathy0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040282 - Frequent133
HP:0003477HP:0003477Peripheral axonal neuropathy0PLD3 CL E G H2364617158OMIM:617770Spinocerebellar ataxia 462
HP:0003477HP:0003477Peripheral axonal neuropathy0PLEKHG4 CL E G H2589424501ORPHA:98765Spinocerebellar ataxia type 44
HP:0003477HP:0003477Peripheral axonal neuropathy0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040284 - Very rare105
HP:0003477HP:0003477Peripheral axonal neuropathy0PLXNA1 CL E G H53619099OMIM:619955
HP:0003477HP:0003477Peripheral axonal neuropathy0PNPLA6 CL E G H1090816268ORPHA:139480Autosomal recessive spastic paraplegia type 39103
HP:0003477HP:0003477Peripheral axonal neuropathy0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome.103
HP:0003477HP:0003477Peripheral axonal neuropathy0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0003477HP:0003477Peripheral axonal neuropathy0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0003477HP:0003477Peripheral axonal neuropathy0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0003477HP:0003477Peripheral axonal neuropathy0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0003477HP:0003477Peripheral axonal neuropathy0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0003477HP:0003477Peripheral axonal neuropathy0POLG CL E G H54289179ORPHA:94125Recessive mitochondrial ataxia syndrome464
HP:0003477HP:0003477Peripheral axonal neuropathy0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0003477HP:0003477Peripheral axonal neuropathy0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0003477HP:0003477Peripheral axonal neuropathy0POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0003477HP:0003477Peripheral axonal neuropathy0PRICKLE1 CL E G H14416517019OMIM:612437Epilepsy, progressive myoclonic 1B133
HP:0003477HP:0003477Peripheral axonal neuropathy0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0003477HP:0003477Peripheral axonal neuropathy0PSAP CL E G H56609498OMIM:611722KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY81
HP:0003477HP:0003477Peripheral axonal neuropathy0REEP1 CL E G H6505525786OMIM:62001187
HP:0003477HP:0003477Peripheral axonal neuropathy0RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB.54
HP:0003477HP:0003477Peripheral axonal neuropathy0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0003477HP:0003477Peripheral axonal neuropathy0RNF220 CL E G H5518225552OMIM:619688LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD231
HP:0003477HP:0003477Peripheral axonal neuropathy0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0003477HP:0003477Peripheral axonal neuropathy0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0003477HP:0003477Peripheral axonal neuropathy0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional1200
HP:0003477HP:0003477Peripheral axonal neuropathy0SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0003477HP:0003477Peripheral axonal neuropathy0SERPING1 CL E G H7101228OMIM:106100Angioedema, hereditary, 1.64
HP:0003477HP:0003477Peripheral axonal neuropathy0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0003477HP:0003477Peripheral axonal neuropathy0SH3TC2 CL E G H7962829427OMIM:613353Mononeuropathy of the median nerve, mild.493
HP:0003477HP:0003477Peripheral axonal neuropathy0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0003477HP:0003477Peripheral axonal neuropathy0SLC12A6 CL E G H999010914OMIM:620068163
HP:0003477HP:0003477Peripheral axonal neuropathy0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0003477HP:0003477Peripheral axonal neuropathy0SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type).36
HP:0003477HP:0003477Peripheral axonal neuropathy0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0003477HP:0003477Peripheral axonal neuropathy0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0003477HP:0003477Peripheral axonal neuropathy0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0003477HP:0003477Peripheral axonal neuropathy0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040281 - Very frequent287
HP:0003477HP:0003477Peripheral axonal neuropathy0SPG11 CL E G H8020811226OMIM:616668Charcot-Marie-Tooth disease, axonal, type 2X.287
HP:0003477HP:0003477Peripheral axonal neuropathy0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosis171
HP:0003477HP:0003477Peripheral axonal neuropathy0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0003477HP:0003477Peripheral axonal neuropathy0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 154
HP:0003477HP:0003477Peripheral axonal neuropathy0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0003477HP:0003477Peripheral axonal neuropathy0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1149
HP:0003477HP:0003477Peripheral axonal neuropathy0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional110
HP:0003477HP:0003477Peripheral axonal neuropathy0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce type1129
HP:0003477HP:0003477Peripheral axonal neuropathy0SYNE1 CL E G H2334517089OMIM:610743Spinocerebellar ataxia, autosomal recessive 8HP:0040284 - Very rare1129
HP:0003477HP:0003477Peripheral axonal neuropathy0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0003477HP:0003477Peripheral axonal neuropathy0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0003477HP:0003477Peripheral axonal neuropathy0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0003477HP:0003477Peripheral axonal neuropathy0TDP1 CL E G H5577518884OMIM:607250Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.52
HP:0003477HP:0003477Peripheral axonal neuropathy0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0003477HP:0003477Peripheral axonal neuropathy0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0003477HP:0003477Peripheral axonal neuropathy0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R.3
HP:0003477HP:0003477Peripheral axonal neuropathy0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0003477HP:0003477Peripheral axonal neuropathy0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0003477HP:0003477Peripheral axonal neuropathy0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasiaHP:0040283 - Occasional214
HP:0003477HP:0003477Peripheral axonal neuropathy0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0003477HP:0003477Peripheral axonal neuropathy0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvementHP:0040283 - Occasional64
HP:0003477HP:0003477Peripheral axonal neuropathy0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0003477HP:0003477Peripheral axonal neuropathy0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)113
HP:0003477HP:0003477Peripheral axonal neuropathy0TWNK CL E G H566521160OMIM:616138Perrault syndrome 5113
HP:0003477HP:0003477Peripheral axonal neuropathy0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3113
HP:0003477HP:0003477Peripheral axonal neuropathy0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0003477HP:0003477Peripheral axonal neuropathy0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0003477HP:0003477Peripheral axonal neuropathy0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0003477HP:0003477Peripheral axonal neuropathy0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia63
HP:0003477HP:0003477Peripheral axonal neuropathy0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0003477HP:0003477Peripheral axonal neuropathy0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0003477HP:0003477Peripheral axonal neuropathy0VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0003477HP:0003477Peripheral axonal neuropathy0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0003477HP:0003477Peripheral axonal neuropathy0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003477HP:0003477Peripheral axonal neuropathy0WARS1 CL E G H745312729OMIM:617721Neuronopathy, distal hereditary motor, type IX
HP:0003477HP:0003477Peripheral axonal neuropathy0WDR48 CL E G H5759930914ORPHA:401800Autosomal recessive spastic paraplegia type 601
HP:0003477HP:0003477Peripheral axonal neuropathy0WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndromeHP:0040282 - Frequent389
HP:0003477HP:0003477Peripheral axonal neuropathy0XK CL E G H750412811OMIM:300842Mcleod syndrome8
HP:0003477HP:0003477Peripheral axonal neuropathy0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0003477HP:0003477Peripheral axonal neuropathy0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189
HP:0003477HP:0003477Peripheral axonal neuropathy0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive189
HP:0003477HP:0007002Motor axonal neuropathy1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0003477HP:0007002Motor axonal neuropathy1AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0003477HP:0003390Sensory axonal neuropathy1ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0003477HP:0007002Motor axonal neuropathy1AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0003477HP:0003390Sensory axonal neuropathy1AIFM1 CL E G H91318768OMIM:310490Cowchock syndrome.60
HP:0003477HP:0007002Motor axonal neuropathy1AIFM1 CL E G H91318768OMIM:310490Cowchock syndrome.60
HP:0003477HP:0003390Sensory axonal neuropathy1AIFM1 CL E G H91318768OMIM:300614Deafness, X-linked 5.60
HP:0003477HP:0003390Sensory axonal neuropathy1AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040281 - Very frequent60
HP:0003477HP:0007002Motor axonal neuropathy1ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional71
HP:0003477HP:0007002Motor axonal neuropathy1ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional5
HP:0003477HP:0003390Sensory axonal neuropathy1ATL3 CL E G H2592324526OMIM:615632Neuropathy, hereditary sensory, type IF.5
HP:0003477HP:0003390Sensory axonal neuropathy1ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040282 - Frequent100
HP:0003477HP:0007002Motor axonal neuropathy1C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0003477HP:0007002Motor axonal neuropathy1C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0003477HP:0003390Sensory axonal neuropathy1CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0003477HP:0003390Sensory axonal neuropathy1CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040282 - Frequent56
HP:0003477HP:0007002Motor axonal neuropathy1COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0003477HP:0007267Chronic axonal neuropathy1COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040282 - Frequent39
HP:0003477HP:0003390Sensory axonal neuropathy1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0003477HP:0007002Motor axonal neuropathy1CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0003477HP:0003390Sensory axonal neuropathy1CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10HP:0040283 - Occasional159
HP:0003477HP:0003390Sensory axonal neuropathy1DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040282 - Frequent57
HP:0003477HP:0003390Sensory axonal neuropathy1DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003477HP:0007002Motor axonal neuropathy1EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0003477HP:0003390Sensory axonal neuropathy1FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040282 - Frequent47
HP:0003477HP:0003390Sensory axonal neuropathy1FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040282 - Frequent18
HP:0003477HP:0003390Sensory axonal neuropathy1GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0003477HP:0007002Motor axonal neuropathy1GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0003477HP:0007267Chronic axonal neuropathy1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003477HP:0007267Chronic axonal neuropathy1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0003477HP:0003390Sensory axonal neuropathy1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0003477HP:0007002Motor axonal neuropathy1GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0003477HP:0007002Motor axonal neuropathy1HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040282 - Frequent
HP:0003477HP:0003390Sensory axonal neuropathy1HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0003477HP:0007002Motor axonal neuropathy1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0003477HP:0003390Sensory axonal neuropathy1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0003477HP:0003390Sensory axonal neuropathy1HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive.12
HP:0003477HP:0007002Motor axonal neuropathy1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0003477HP:0003390Sensory axonal neuropathy1HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0003477HP:0007002Motor axonal neuropathy1HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0003477HP:0003390Sensory axonal neuropathy1HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0003477HP:0007002Motor axonal neuropathy1HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0003477HP:0007267Chronic axonal neuropathy1HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0003477HP:0007267Chronic axonal neuropathy1KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalanceHP:0040283 - Occasional121
HP:0003477HP:0007002Motor axonal neuropathy1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040283 - Occasional4
HP:0003477HP:0007002Motor axonal neuropathy1KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy.1
HP:0003477HP:0003390Sensory axonal neuropathy1KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy.1
HP:0003477HP:0003390Sensory axonal neuropathy1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003477HP:0007002Motor axonal neuropathy1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003477HP:0003390Sensory axonal neuropathy1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040281 - Very frequent203
HP:0003477HP:0007002Motor axonal neuropathy1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0003477HP:0003390Sensory axonal neuropathy1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040281 - Very frequent8
HP:0003477HP:0003390Sensory axonal neuropathy1NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003477HP:0007002Motor axonal neuropathy1OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040283 - Occasional214
HP:0003477HP:0003390Sensory axonal neuropathy1OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0003477HP:0007002Motor axonal neuropathy1PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040281 - Very frequent75
HP:0003477HP:0007002Motor axonal neuropathy1PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0003477HP:0003390Sensory axonal neuropathy1PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch.77
HP:0003477HP:0003390Sensory axonal neuropathy1PLD3 CL E G H2364617158OMIM:617770Spinocerebellar ataxia 46.2
HP:0003477HP:0003390Sensory axonal neuropathy1PLEKHG4 CL E G H2589424501ORPHA:98765Spinocerebellar ataxia type 4HP:0040283 - Occasional4
HP:0003477HP:0007002Motor axonal neuropathy1PLEKHG4 CL E G H2589424501ORPHA:98765Spinocerebellar ataxia type 4HP:0040283 - Occasional4
HP:0003477HP:0007002Motor axonal neuropathy1PNPLA6 CL E G H1090816268ORPHA:139480Autosomal recessive spastic paraplegia type 39HP:0040282 - Frequent103
HP:0003477HP:0003390Sensory axonal neuropathy1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003477HP:0003390Sensory axonal neuropathy1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003477HP:0003390Sensory axonal neuropathy1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0003477HP:0003390Sensory axonal neuropathy1POLG CL E G H54289179ORPHA:94125Recessive mitochondrial ataxia syndromeHP:0040282 - Frequent464
HP:0003477HP:0003390Sensory axonal neuropathy1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0003477HP:0003390Sensory axonal neuropathy1PRICKLE1 CL E G H14416517019OMIM:612437Epilepsy, progressive myoclonic 1B.133
HP:0003477HP:0003390Sensory axonal neuropathy1SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0003477HP:0007267Chronic axonal neuropathy1SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1.162
HP:0003477HP:0003390Sensory axonal neuropathy1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0003477HP:0007002Motor axonal neuropathy1SLC12A6 CL E G H999010914OMIM:620068163
HP:0003477HP:0007002Motor axonal neuropathy1SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040283 - Occasional171
HP:0003477HP:0007002Motor axonal neuropathy1SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional54
HP:0003477HP:0007267Chronic axonal neuropathy1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA.54
HP:0003477HP:0007002Motor axonal neuropathy1SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional149
HP:0003477HP:0003390Sensory axonal neuropathy1SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040284 - Very rare1129
HP:0003477HP:0007267Chronic axonal neuropathy1SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0003477HP:0007002Motor axonal neuropathy1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040284 - Very rare16
HP:0003477HP:0003390Sensory axonal neuropathy1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent103
HP:0003477HP:0007002Motor axonal neuropathy1TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndromeHP:0040283 - Occasional27
HP:0003477HP:0003390Sensory axonal neuropathy1TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0003477HP:0003390Sensory axonal neuropathy1TWNK CL E G H566521160OMIM:616138Perrault syndrome 5.113
HP:0003477HP:0003390Sensory axonal neuropathy1TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3HP:0040283 - Occasional113
HP:0003477HP:0003390Sensory axonal neuropathy1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0003477HP:0007002Motor axonal neuropathy1VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63
HP:0003477HP:0003390Sensory axonal neuropathy1VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63
HP:0003477HP:0007002Motor axonal neuropathy1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003477HP:0007002Motor axonal neuropathy1WARS1 CL E G H745312729OMIM:617721Neuronopathy, distal hereditary motor, type IX.
HP:0003477HP:0007002Motor axonal neuropathy1WDR48 CL E G H5759930914ORPHA:401800Autosomal recessive spastic paraplegia type 60HP:0040282 - Frequent1
HP:0003477HP:0007002Motor axonal neuropathy1XK CL E G H750412811OMIM:300842Mcleod syndrome.8
HP:0003477HP:0003390Sensory axonal neuropathy1XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9


Genes (177) :AAAS AARS1 ABCA1 ABCC8 ABCD1 ACOX1 AFG3L2 AGTPBP1 AIFM1 ALDH18A1 AMPD2 ASCC1 ATAD3A ATL1 ATL3 ATP11A ATP13A2 ATP1A3 ATP6 ATXN3 BIN1 BRAF C19ORF12 CAPN1 CCT5 COA7 COASY COG8 COX1 COX2 COX20 COX3 CTDP1 CTSD CYP2U1 DARS2 DCAF8 DDHD1 DGUOK DHX16 DNM2 DYNC1H1 ELOVL4 ELOVL5 ERBB2 ERCC6 ERCC8 EXOSC3 EXOSC8 EXOSC9 FBLN5 FGF14 FLRT1 FXN GAN GBA2 GBE1 GCK GDAP1 GJC2 GLE1 GMPPA GNB2 HARS1 HEXB HINT1 HK1 HMBS HNRNPA1 HNRNPA2B1 HSPB1 HSPB8 IBA57 IFRD1 INS KARS1 KCNJ10 KCNJ11 KCNK9 KIF1A KIF1B KIF5A KLC2 KLHL9 KRAS LIG3 LMNA MARS1 MCM3AP MFN2 MICU1 MME MORC2 MPV17 MPZ MTMR14 MTRFR MYF6 NAGA ND1 ND4 ND5 ND6 NEFH NEFL NEMF OPA1 PDX1 PEX10 PIEZO2 PIGB PIK3R5 PLA2G6 PLD3 PLEKHG4 PLOD1 PLXNA1 PNPLA6 POLG POLG2 PRICKLE1 PRPS1 PSAP REEP1 RETREG1 RNF170 RNF220 RRM2B RYR1 SAMD9L SERPING1 SETX SH3TC2 SHMT2 SLC12A6 SLC25A19 SLC25A4 SLC25A46 SPG11 SPG7 SPTBN4 SPTLC1 SPTLC2 STAT3 SYNE1 TBCD TBCE TDP1 TK2 TRAPPC11 TRIM2 TRIP4 TRNE TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPV4 TTR TUBB3 TWNK TYMP VCP VPS13A VPS13D VPS41 VRK1 VWA1 WARS1 WDR48 WFS1 XK XRCC4 ZFYVE26

Diseases (184) :OMIM:231550 ORPHA:869 OMIM:613287 ORPHA:31150 OMIM:205400 ORPHA:99885 ORPHA:139396 OMIM:618960 ORPHA:313772 OMIM:618276 ORPHA:2254 OMIM:310490 OMIM:300614 ORPHA:238329 ORPHA:447757 OMIM:615809 OMIM:616867 OMIM:617183 ORPHA:496790 OMIM:618810 ORPHA:36386 OMIM:613708 OMIM:615632 OMIM:619851 ORPHA:513436 OMIM:617225 OMIM:601338 ORPHA:320360 ORPHA:276244 ORPHA:169189 OMIM:115150 ORPHA:289560 OMIM:614298 OMIM:616907 ORPHA:139578 OMIM:256840 OMIM:618387 ORPHA:397725 OMIM:615643 ORPHA:95428 ORPHA:550 OMIM:619054 ORPHA:48431 OMIM:610127 ORPHA:320411 OMIM:615030 ORPHA:137898 OMIM:611105 OMIM:610100 OMIM:609340 ORPHA:329314 OMIM:617070 OMIM:618733 OMIM:614563 OMIM:133190 OMIM:615957 OMIM:619465 ORPHA:90324 OMIM:618065 OMIM:608895 ORPHA:98764 ORPHA:320406 ORPHA:95 OMIM:256850 ORPHA:352641 ORPHA:320391 OMIM:263570 ORPHA:101097 ORPHA:99948 OMIM:608804 OMIM:611890 OMIM:619503 ORPHA:488333 ORPHA:309169 ORPHA:324442 OMIM:137200 ORPHA:99953 ORPHA:79276 ORPHA:52430 ORPHA:99940 OMIM:606595 OMIM:608673 ORPHA:468661 OMIM:616451 ORPHA:98771 OMIM:619196 ORPHA:199343 OMIM:612780 ORPHA:166108 OMIM:614255 OMIM:610357 OMIM:118210 ORPHA:100991 OMIM:609541 ORPHA:399081 OMIM:615278 ORPHA:298 ORPHA:98856 OMIM:616280 OMIM:618124 ORPHA:99947 OMIM:617087 OMIM:615673 ORPHA:401768 ORPHA:497764 ORPHA:466768 OMIM:619090 OMIM:618400 ORPHA:101082 ORPHA:254930 OMIM:615035 OMIM:609242 OMIM:616924 ORPHA:99939 OMIM:619099 ORPHA:1215 OMIM:210000 ORPHA:247815 OMIM:614871 OMIM:617146 OMIM:618580 OMIM:615217 ORPHA:35069 OMIM:617770 ORPHA:98765 ORPHA:1900 OMIM:619955 ORPHA:139480 OMIM:275400 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 ORPHA:94125 OMIM:607459 OMIM:619425 OMIM:612437 OMIM:300661 OMIM:611722 OMIM:620011 OMIM:613115 OMIM:619686 OMIM:619688 OMIM:619806 OMIM:106100 OMIM:606002 OMIM:613353 OMIM:619121 OMIM:620068 OMIM:218000 OMIM:613710 OMIM:616505 ORPHA:2822 OMIM:616668 ORPHA:35689 OMIM:617519 OMIM:162400 ORPHA:88644 OMIM:610743 ORPHA:496641 ORPHA:496756 OMIM:617207 OMIM:607250 OMIM:615490 OMIM:616866 ORPHA:2596 OMIM:156530 OMIM:105210 OMIM:600638 OMIM:271245 OMIM:616138 OMIM:609286 ORPHA:435387 ORPHA:2388 OMIM:607317 OMIM:619389 OMIM:619216 OMIM:617721 ORPHA:401800 ORPHA:411590 OMIM:300842 OMIM:616541 ORPHA:100996 OMIM:270700
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.