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:
Abnormality of peripheral nerve conduction (HP:0003134)

Parent Node:
Abnormal peripheral action potential amplitude (HP:0030179)

..Starting node
..Decreased amplitude of sensory action potentials (HP:0007078)

Term ID:

7078

Name:

Decreased amplitude of sensory action potentials

Synonym:

Definition:

A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.

Comments:

Reference:

HP:0007078

Genes and Diseases:

Child Nodes:

........

Decreased distal sensory nerve action potential (HP:0007230)

Sister Nodes:

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:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	71
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	5
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.	38
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040281 - Very frequent	82
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	54
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	149
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0007078	HP:0007078	Decreased amplitude of sensory action potentials	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0007078	HP:0007230	Decreased distal sensory nerve action potential	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0007078	HP:0007230	Decreased distal sensory nerve action potential	1	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent	11
HP:0007078	HP:0007230	Decreased distal sensory nerve action potential	1	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0007078	HP:0007230	Decreased distal sensory nerve action potential	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0007078	HP:0007230	Decreased distal sensory nerve action potential	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0007078	HP:0007230	Decreased distal sensory nerve action potential	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0007078	HP:0007230	Decreased distal sensory nerve action potential	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0007078	HP:0007230	Decreased distal sensory nerve action potential	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0007078	HP:0007230	Decreased distal sensory nerve action potential	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214

Genes (23) :ATL1 ATL3 ATXN1 CCT5 DHX16 FXN GDAP1 HK1 HSPB8 LITAF LMNA MORC2 MPV17 NDRG1 NEFL RFC1 SBF2 SORD SPTLC1 SPTLC2 TRPV4 UQCRC1 VPS13A

Diseases (21) :ORPHA:36386 OMIM:164400 OMIM:256840 OMIM:618733 OMIM:229300 OMIM:607706 ORPHA:99953 OMIM:608673 OMIM:601098 ORPHA:98856 ORPHA:466768 OMIM:616688 OMIM:618400 ORPHA:99950 OMIM:607684 OMIM:614575 ORPHA:99956 OMIM:618912 OMIM:606071 OMIM:619279 ORPHA:2388

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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