Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 nerves (HP:0045010)

Grandparent Node:
Abnormality of peripheral nervous system electrophysiology (HP:0030177)

Parent Node:
Abnormality of peripheral nerve conduction (HP:0003134)

..Starting node
..Abnormal peripheral action potential amplitude (HP:0030179)

Term ID:

30179

Name:

Abnormal peripheral action potential amplitude

Synonym:

Definition:

An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.

Comments:

Reference:

HP:0030179

Genes and Diseases:

Child Nodes:

........

Decreased amplitude of sensory action potentials (HP:0007078)

................... HP:0007230 Decreased distal sensory nerve action potential

Sister Nodes:

Abnormal nerve conduction velocity (HP:0040129)

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:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D		82
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent	18
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030179	HP:0030179	Abnormal peripheral action potential amplitude	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0030179	HP:0033383	Decreased compound muscle action potential amplitude	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	71
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	5
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030179	HP:0033383	Decreased compound muscle action potential amplitude	1	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0030179	HP:0033383	Decreased compound muscle action potential amplitude	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0030179	HP:0033383	Decreased compound muscle action potential amplitude	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0030179	HP:0033383	Decreased compound muscle action potential amplitude	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.	38
HP:0030179	HP:0033383	Decreased compound muscle action potential amplitude	1	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040281 - Very frequent	82
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0030179	HP:0033383	Decreased compound muscle action potential amplitude	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0030179	HP:0033383	Decreased compound muscle action potential amplitude	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030179	HP:0033383	Decreased compound muscle action potential amplitude	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	54
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	149
HP:0030179	HP:0025680	Compound muscle action potential amplitude facilitation	1	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0030179	HP:0033383	Decreased compound muscle action potential amplitude	1	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0030179	HP:0033383	Decreased compound muscle action potential amplitude	1	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030179	HP:0007078	Decreased amplitude of sensory action potentials	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0030179	HP:0007230	Decreased distal sensory nerve action potential	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0030179	HP:0007230	Decreased distal sensory nerve action potential	2	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent	11
HP:0030179	HP:0007230	Decreased distal sensory nerve action potential	2	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0030179	HP:0007230	Decreased distal sensory nerve action potential	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0030179	HP:0007230	Decreased distal sensory nerve action potential	2	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0030179	HP:0007230	Decreased distal sensory nerve action potential	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0030179	HP:0007230	Decreased distal sensory nerve action potential	2	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0030179	HP:0007230	Decreased distal sensory nerve action potential	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030179	HP:0007230	Decreased distal sensory nerve action potential	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214

Genes (34) :ALS2 ATL1 ATL3 ATXN1 BSCL2 CADM3 CCT5 DHX16 DNAJB6 EMILIN1 FXN GDAP1 HK1 HSPB8 KARS1 LITAF LMNA MORC2 MPV17 NDRG1 NEFL PMP2 RAB7A RFC1 SBF2 SETX SORD SPTLC1 SPTLC2 SYT2 TFG TRPV4 UQCRC1 VPS13A

Diseases (32) :OMIM:606353 ORPHA:36386 OMIM:164400 OMIM:619112 OMIM:619519 OMIM:256840 OMIM:618733 OMIM:603511 OMIM:620080 OMIM:229300 OMIM:607706 ORPHA:99953 OMIM:608673 OMIM:613641 OMIM:601098 ORPHA:98856 ORPHA:466768 OMIM:616688 OMIM:618400 ORPHA:99950 OMIM:607684 OMIM:618279 OMIM:600882 OMIM:614575 ORPHA:99956 OMIM:602433 OMIM:618912 OMIM:616040 ORPHA:90117 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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen