Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Peripheral neuropathy (HP:0009830)

Parent Node:
Peripheral axonal neuropathy (HP:0003477)

Parent Node:
Sensory neuropathy (HP:0000763)

..Starting node
..Sensory axonal neuropathy (HP:0003390)

Term ID:

3390

Name:

Sensory axonal neuropathy

Synonym:

Axonal sensory neuropathy; Peripheral sensory axonal neuropathy

Definition:

An axonal neuropathy of peripheral sensory nerves.

Comments:

Reference:

HP:0003390

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal peripheral sensory neuropathy (HP:0007067)

Distal sensory impairment of all modalities (HP:0003409)

Hyperesthesia (HP:0100963)

Paresthesia (HP:0003401)

Sensory ataxic neuropathy (HP:0003434)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH		120
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	.	60
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.	60
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent	60
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF	.	5
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040282 - Frequent	100
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040282 - Frequent	56
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	HP:0040283 - Occasional	159
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040282 - Frequent	57
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040282 - Frequent	47
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.	12
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040281 - Very frequent	203
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent	8
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.	77
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.	2
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040283 - Occasional	4
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent	464
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.	133
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040284 - Very rare	1129
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	103
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	.	113
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	HP:0040283 - Occasional	113
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0003390	HP:0003390	Sensory axonal neuropathy	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9

Genes (36) :ACOX1 AIFM1 ATL3 ATP13A2 CAPN1 CCT5 COX20 CTSD DGUOK DHX16 FGF14 FXN GAN GJC2 HEXB HINT1 HNRNPA1 HNRNPA2B1 KLC2 LMNA MFN2 MORC2 NEFH OPA1 PIEZO2 PLD3 PLEKHG4 POLG PRICKLE1 SAMD9L SHMT2 SYNE1 TK2 TWNK VCP XRCC4

Diseases (42) :OMIM:618960 OMIM:310490 OMIM:300614 ORPHA:238329 OMIM:615632 ORPHA:513436 OMIM:616907 ORPHA:139578 OMIM:619054 OMIM:610127 ORPHA:329314 OMIM:618733 ORPHA:98764 ORPHA:95 OMIM:256850 OMIM:608804 ORPHA:309169 ORPHA:324442 OMIM:137200 ORPHA:52430 OMIM:609541 ORPHA:98856 ORPHA:99947 ORPHA:466768 OMIM:616924 OMIM:210000 OMIM:617146 OMIM:617770 ORPHA:98765 ORPHA:254886 OMIM:157640 OMIM:258450 ORPHA:94125 OMIM:607459 OMIM:612437 OMIM:619806 OMIM:619121 ORPHA:88644 OMIM:271245 OMIM:616138 OMIM:609286 OMIM:616541

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

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