Human Phenotype Ontology

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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 hand (HP:0001155)

Grandparent Node:
Abnormality of the musculature of the upper limbs (HP:0001446)

Parent Node:
Abnormality of the musculature of the hand (HP:0001421)

..Starting node
..Hand muscle weakness (HP:0030237)

Term ID:

30237

Name:

Hand muscle weakness

Synonym:

Hand muscle weakness

Definition:

Reduced strength of the musculature of the hand.

Comments:

Reference:

HP:0030237

Genes and Diseases:

Child Nodes:

........

Thenar muscle weakness (HP:0003427)

........

Weakness of long finger extensor muscles (HP:0009077)

........

Finger flexor weakness (HP:0031177)

Sister Nodes:

Abnormality of the hypothenar eminence (HP:0010486)

Abnormality of the thenar eminence (HP:0001227)

Hand muscle atrophy (HP:0009130)

Hypotrophy of the small hand muscles (HP:0006006)

Weakness of the intrinsic hand muscles (HP:0009005)

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:0030237	HP:0030237	Hand muscle weakness	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0030237	HP:0030237	Hand muscle weakness	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0030237	HP:0030237	Hand muscle weakness	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040284 - Very rare	46
HP:0030237	HP:0030237	Hand muscle weakness	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional	105
HP:0030237	HP:0030237	Hand muscle weakness	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5		105
HP:0030237	HP:0030237	Hand muscle weakness	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0030237	HP:0030237	Hand muscle weakness	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0030237	HP:0030237	Hand muscle weakness	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0030237	HP:0030237	Hand muscle weakness	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0030237	HP:0030237	Hand muscle weakness	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0030237	HP:0030237	Hand muscle weakness	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0030237	HP:0030237	Hand muscle weakness	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0030237	HP:0030237	Hand muscle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0030237	HP:0030237	Hand muscle weakness	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	90
HP:0030237	HP:0030237	Hand muscle weakness	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.	86
HP:0030237	HP:0030237	Hand muscle weakness	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0030237	HP:0030237	Hand muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0030237	HP:0030237	Hand muscle weakness	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0030237	HP:0030237	Hand muscle weakness	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0030237	HP:0030237	Hand muscle weakness	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0030237	HP:0030237	Hand muscle weakness	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0030237	HP:0030237	Hand muscle weakness	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0030237	HP:0030237	Hand muscle weakness	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0030237	HP:0030237	Hand muscle weakness	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0030237	HP:0030237	Hand muscle weakness	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0030237	HP:0030237	Hand muscle weakness	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0030237	HP:0030237	Hand muscle weakness	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0030237	HP:0030237	Hand muscle weakness	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0030237	HP:0030237	Hand muscle weakness	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0030237	HP:0030237	Hand muscle weakness	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0030237	HP:0030237	Hand muscle weakness	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	92
HP:0030237	HP:0030237	Hand muscle weakness	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0030237	HP:0030237	Hand muscle weakness	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0030237	HP:0030237	Hand muscle weakness	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0030237	HP:0030237	Hand muscle weakness	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0030237	HP:0030237	Hand muscle weakness	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0030237	HP:0030237	Hand muscle weakness	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0030237	HP:0030237	Hand muscle weakness	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0030237	HP:0030237	Hand muscle weakness	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0030237	HP:0030237	Hand muscle weakness	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0030237	HP:0030237	Hand muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0030237	HP:0030237	Hand muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy		745
HP:0030237	HP:0030237	Hand muscle weakness	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0030237	HP:0030237	Hand muscle weakness	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	.	4
HP:0030237	HP:0030237	Hand muscle weakness	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0030237	HP:0030237	Hand muscle weakness	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0030237	HP:0030237	Hand muscle weakness	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional	65
HP:0030237	HP:0030237	Hand muscle weakness	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0030237	HP:0030237	Hand muscle weakness	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0030237	HP:0030237	Hand muscle weakness	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040283 - Occasional	87
HP:0030237	HP:0030237	Hand muscle weakness	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5		87
HP:0030237	HP:0030237	Hand muscle weakness	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030237	HP:0030237	Hand muscle weakness	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0030237	HP:0030237	Hand muscle weakness	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type		62
HP:0030237	HP:0030237	Hand muscle weakness	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type		5
HP:0030237	HP:0030237	Hand muscle weakness	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0030237	HP:0030237	Hand muscle weakness	0	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0030237	HP:0003427	Thenar muscle weakness	1	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	105
HP:0030237	HP:0003427	Thenar muscle weakness	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0030237	HP:0033466	Weak grip	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0030237	HP:0031177	Finger flexor weakness	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040284 - Very rare	600
HP:0030237	HP:0031177	Finger flexor weakness	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040282 - Frequent	197
HP:0030237	HP:0003427	Thenar muscle weakness	1	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0030237	HP:0003427	Thenar muscle weakness	1	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0030237	HP:0003427	Thenar muscle weakness	1	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent
HP:0030237	HP:0003427	Thenar muscle weakness	1	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	.
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040284 - Very rare	173
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040283 - Occasional	286
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent	745
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0030237	HP:0003427	Thenar muscle weakness	1	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	87
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	62
HP:0030237	HP:0009077	Weakness of long finger extensor muscles	1	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	5

Genes (48) :AGRN AK9 BICD2 BSCL2 CADM3 CAV3 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ DCTN1 DOK7 DYSF FLNC GARS1 GDAP1 GJB1 GNE GYG1 HARS1 HINT1 HSPB3 LAMB2 LDB3 LMNA LRP4 MARS1 MATR3 MFN2 MORC2 MUSK MYH7 NEB NEFL PDK3 PMP22 PNPLA2 POLG RAPSN REEP1 SBF2 SCN4A SQSTM1 TIA1 TK2 YARS1

Diseases (41) :ORPHA:98913 ORPHA:363454 ORPHA:100998 ORPHA:139536 OMIM:270685 OMIM:619519 OMIM:614321 ORPHA:98915 OMIM:607641 ORPHA:178400 ORPHA:63273 OMIM:614065 OMIM:601472 OMIM:600794 ORPHA:101097 ORPHA:99948 OMIM:302800 ORPHA:602 OMIM:616199 ORPHA:488333 ORPHA:324442 OMIM:613376 ORPHA:98912 ORPHA:98856 OMIM:616280 OMIM:606070 ORPHA:99947 ORPHA:466768 ORPHA:437572 OMIM:160500 ORPHA:399103 ORPHA:101085 OMIM:300905 ORPHA:90658 OMIM:162500 ORPHA:98908 ORPHA:254886 ORPHA:101011 ORPHA:99956 ORPHA:603 OMIM:608323

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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