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 the musculature of the hand (HP:0001421)

Grandparent Node:
Distal upper limb amyotrophy (HP:0007149)

Parent Node:
Hand muscle atrophy (HP:0009130)

..Starting node
..Intrinsic hand muscle atrophy (HP:0008954)

Term ID:

8954

Name:

Intrinsic hand muscle atrophy

Synonym:

Definition:

Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.

Comments:

Reference:

HP:0008954

Genes and Diseases:

Child Nodes:

Sister Nodes:

Thenar muscle atrophy (HP:0003393)

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:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040283 - Occasional	600
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040281 - Very frequent	197
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040282 - Frequent	286
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	134
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	79
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent	1200
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	62
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	5
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0008954	HP:0008954	Intrinsic hand muscle atrophy	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63

Genes (25) :CAV3 CHCHD10 CHRNA1 DYSF FLNC GDAP1 HARS1 HINT1 HSPB3 JAG1 KIF1A KLHL9 LDB3 MORC2 MPZ NGLY1 PMP22 PRX RYR1 SLC12A6 SQSTM1 SVBP TIA1 TIMM8A VCP

Diseases (24) :ORPHA:488650 OMIM:614321 ORPHA:276435 OMIM:601462 ORPHA:178400 ORPHA:63273 ORPHA:101097 ORPHA:488333 ORPHA:324442 OMIM:613376 OMIM:619574 OMIM:614213 ORPHA:399081 ORPHA:98912 OMIM:616688 ORPHA:3115 OMIM:615273 OMIM:614895 ORPHA:178145 OMIM:620068 ORPHA:603 OMIM:618569 OMIM:304700 ORPHA:329478

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