Human Phenotype Ontology 
Grandparent Node:
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Abnormal peripheral nervous system morphology (HP:0000759)help
Parent Node:
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Peripheral neuropathy (HP:0009830)help
..Starting node
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Polyneuropathy (HP:0001271)help
Term ID: 1271
Name: Polyneuropathy
Synonym: Peripheral nerve disease
Definition: A generalized disorder of peripheral nerves.
Comments:
Reference: HP:0001271
Genes and Diseases:
 
       Child Nodes:

 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
..expandPeripheral axonal neuropathy (HP:0003477) 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:0001271HP:0001271Polyneuropathy0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0001271HP:0001271Polyneuropathy0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0001271HP:0001271Polyneuropathy0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0001271HP:0001271Polyneuropathy0ARL6IP1 CL E G H23204697ORPHA:401780Autosomal recessive spastic paraplegia type 61HP:0040282 - Frequent1
HP:0001271HP:0001271Polyneuropathy0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy.
HP:0001271HP:0001271Polyneuropathy0ATP7B CL E G H540870OMIM:277900Wilson diseaseHP:0040283 - Occasional315
HP:0001271HP:0001271Polyneuropathy0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0001271HP:0001271Polyneuropathy0CD59 CL E G H9661689OMIM:612300Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy.3
HP:0001271HP:0001271Polyneuropathy0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 81
HP:0001271HP:0001271Polyneuropathy0COX3 CL E G H45147422OMIM:535000Leber optic atrophy.
HP:0001271HP:0001271Polyneuropathy0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040284 - Very rare57
HP:0001271HP:0001271Polyneuropathy0CYTB CL E G H45197427OMIM:535000Leber optic atrophy.
HP:0001271HP:0001271Polyneuropathy0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0001271HP:0001271Polyneuropathy0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0001271HP:0001271Polyneuropathy0DHH CL E G H508462865OMIM:60708046,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY21
HP:0001271HP:0001271Polyneuropathy0DHH CL E G H508462865ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndromeHP:0040281 - Very frequent21
HP:0001271HP:0001271Polyneuropathy0DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome.3
HP:0001271HP:0001271Polyneuropathy0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0001271HP:0001271Polyneuropathy0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0001271HP:0001271Polyneuropathy0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0001271HP:0001271Polyneuropathy0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0001271HP:0001271Polyneuropathy0GCLC CL E G H27294311OMIM:230450Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto.2
HP:0001271HP:0001271Polyneuropathy0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040283 - Occasional8
HP:0001271HP:0001271Polyneuropathy0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0001271HP:0001271Polyneuropathy0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040282 - Frequent53
HP:0001271HP:0001271Polyneuropathy0GSN CL E G H29344620OMIM:105120Amyloidosis, Finnish type.53
HP:0001271HP:0001271Polyneuropathy0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001271HP:0001271Polyneuropathy0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001271HP:0001271Polyneuropathy0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0001271HP:0001271Polyneuropathy0LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0001271HP:0001271Polyneuropathy0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0001271HP:0001271Polyneuropathy0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0001271HP:0001271Polyneuropathy0MYD88 CL E G H46157562OMIM:153600Macroglobulinemia, Waldenstrom, somatic.9
HP:0001271HP:0001271Polyneuropathy0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY.75
HP:0001271HP:0001271Polyneuropathy0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040284 - Very rare36
HP:0001271HP:0001271Polyneuropathy0ND1 CL E G H45357455OMIM:535000Leber optic atrophy.
HP:0001271HP:0001271Polyneuropathy0ND2 CL E G H45367456OMIM:535000Leber optic atrophy.
HP:0001271HP:0001271Polyneuropathy0ND4 CL E G H45387459OMIM:535000Leber optic atrophy.
HP:0001271HP:0001271Polyneuropathy0ND4L CL E G H45397460OMIM:535000Leber optic atrophy.
HP:0001271HP:0001271Polyneuropathy0ND5 CL E G H45407461OMIM:535000Leber optic atrophy.
HP:0001271HP:0001271Polyneuropathy0ND6 CL E G H45417462OMIM:535000Leber optic atrophy.
HP:0001271HP:0001271Polyneuropathy0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0001271HP:0001271Polyneuropathy0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0001271HP:0001271Polyneuropathy0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0001271HP:0001271Polyneuropathy0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0001271HP:0001271Polyneuropathy0PDK3 CL E G H51658811OMIM:300905Charcot-Marie-Tooth disease, X-linked dominant, 6.4
HP:0001271HP:0001271Polyneuropathy0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23.52
HP:0001271HP:0001271Polyneuropathy0PEX11B CL E G H87998853OMIM:614920Peroxisome biogenesis disorder 14B4
HP:0001271HP:0001271Polyneuropathy0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0001271HP:0001271Polyneuropathy0PEX7 CL E G H51918860OMIM:614879Peroxisome biogenesis disorder 9B.72
HP:0001271HP:0001271Polyneuropathy0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0001271HP:0001271Polyneuropathy0PRPS1 CL E G H56319462OMIM:311070Charcot-Marie-Tooth disease, X-linked recessive, 5.49
HP:0001271HP:0001271Polyneuropathy0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0001271HP:0001271Polyneuropathy0PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0001271HP:0001271Polyneuropathy0RPIA CL E G H2293410297OMIM:608611Ribose 5-phosphate isomerase deficiency.18
HP:0001271HP:0001271Polyneuropathy0SEPTIN9 CL E G H108017323ORPHA:2901Neuralgic amyotrophyHP:0040281 - Very frequent
HP:0001271HP:0001271Polyneuropathy0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1.162
HP:0001271HP:0001271Polyneuropathy0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0001271HP:0001271Polyneuropathy0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome.94
HP:0001271HP:0001271Polyneuropathy0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001271HP:0001271Polyneuropathy0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040284 - Very rare1129
HP:0001271HP:0001271Polyneuropathy0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0001271HP:0001271Polyneuropathy0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0001271HP:0001271Polyneuropathy0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0001271HP:0001271Polyneuropathy0TTR CL E G H727612405ORPHA:85451ATTRV122I amyloidosis107
HP:0001271HP:0001271Polyneuropathy0TTR CL E G H727612405ORPHA:85447ATTRV30M amyloidosisHP:0040281 - Very frequent107
HP:0001271HP:0001271Polyneuropathy0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY


Genes (62) :ABCD1 AIFM1 ALAD ARL6IP1 ATP6 ATP7B ATXN10 CD59 COQ7 COX3 CYP7B1 CYTB DARS2 DGUOK DHH DMXL2 EDNRB ERCC6 ERCC8 FUCA1 GCLC GRM1 GSN HLA-DQA1 HLA-DQB1 HYCC1 LDB3 LITAF MTRFR MYD88 MYOT NAGS ND1 ND2 ND4 ND4L ND5 ND6 NF1 NF2 NGLY1 OPA1 PDK3 PDYN PEX11B PEX12 PEX7 PMM2 PRPS1 PSAP PSMC3 RPIA SEPTIN9 SETX SLC12A6 SNAP29 SPTBN1 SYNE1 TBC1D24 TMEM70 TTR UQCRC1

Diseases (58) :OMIM:300100 OMIM:300816 ORPHA:100924 ORPHA:401780 OMIM:535000 OMIM:277900 OMIM:603516 OMIM:612300 OMIM:616733 ORPHA:100986 ORPHA:137898 OMIM:251880 OMIM:607080 ORPHA:168563 OMIM:616113 OMIM:277580 OMIM:133540 OMIM:216400 OMIM:230000 OMIM:230450 ORPHA:324262 OMIM:614831 ORPHA:85448 OMIM:105120 OMIM:212750 OMIM:610532 OMIM:609452 OMIM:601098 OMIM:613559 OMIM:153600 OMIM:609200 ORPHA:927 ORPHA:97685 ORPHA:637 OMIM:615273 OMIM:125250 OMIM:300905 OMIM:610245 OMIM:614920 OMIM:266510 OMIM:614879 OMIM:212065 OMIM:311070 OMIM:249900 OMIM:619354 OMIM:608611 ORPHA:2901 OMIM:606002 OMIM:218000 OMIM:609528 OMIM:619475 ORPHA:88644 OMIM:220500 OMIM:614052 OMIM:105210 ORPHA:85451 ORPHA:85447 OMIM:619279
 

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