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 the musculature of the upper limbs (HP:0001446)

Grandparent Node:
Skeletal muscle atrophy (HP:0003202)

Parent Node:
Distal amyotrophy (HP:0003693)

Parent Node:
Upper limb amyotrophy (HP:0009129)

..Starting node
..Distal upper limb amyotrophy (HP:0007149)

Term ID:

7149

Name:

Distal upper limb amyotrophy

Synonym:

Distal upper limb muscle atrophy

Definition:

Muscular atrophy of distal arm muscles.

Comments:

Reference:

HP:0007149

Genes and Diseases:

Child Nodes:

........

Hand muscle atrophy (HP:0009130)

................... HP:0003393 Thenar muscle atrophy
................... HP:0008954 Intrinsic hand muscle atrophy

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:0007149	HP:0007149	Distal upper limb amyotrophy	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5		105
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy	HP:0040281 - Very frequent
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy	HP:0040281 - Very frequent
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.	197
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K		108
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040281 - Very frequent	107
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040283 - Occasional	80
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5		87
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	62
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	5
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0007149	HP:0007149	Distal upper limb amyotrophy	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0007149	HP:0009130	Hand muscle atrophy	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.	96
HP:0007149	HP:0009130	Hand muscle atrophy	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0007149	HP:0009130	Hand muscle atrophy	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040282 - Frequent	105
HP:0007149	HP:0009130	Hand muscle atrophy	1	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5		105
HP:0007149	HP:0009130	Hand muscle atrophy	1	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0007149	HP:0009130	Hand muscle atrophy	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0007149	HP:0009130	Hand muscle atrophy	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0007149	HP:0009130	Hand muscle atrophy	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0007149	HP:0009130	Hand muscle atrophy	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0007149	HP:0009130	Hand muscle atrophy	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0007149	HP:0009130	Hand muscle atrophy	1	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0007149	HP:0009130	Hand muscle atrophy	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.	86
HP:0007149	HP:0009130	Hand muscle atrophy	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0007149	HP:0009130	Hand muscle atrophy	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0007149	HP:0009130	Hand muscle atrophy	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0007149	HP:0009130	Hand muscle atrophy	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040281 - Very frequent	18
HP:0007149	HP:0009130	Hand muscle atrophy	1	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0007149	HP:0009130	Hand muscle atrophy	1	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0007149	HP:0009130	Hand muscle atrophy	1	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0007149	HP:0009130	Hand muscle atrophy	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0007149	HP:0009130	Hand muscle atrophy	1	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	HP:0040282 - Frequent	108
HP:0007149	HP:0009130	Hand muscle atrophy	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0007149	HP:0009130	Hand muscle atrophy	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0007149	HP:0009130	Hand muscle atrophy	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0007149	HP:0009130	Hand muscle atrophy	1	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0007149	HP:0009130	Hand muscle atrophy	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0007149	HP:0009130	Hand muscle atrophy	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0007149	HP:0009130	Hand muscle atrophy	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0007149	HP:0009130	Hand muscle atrophy	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0007149	HP:0009130	Hand muscle atrophy	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0007149	HP:0009130	Hand muscle atrophy	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0007149	HP:0009130	Hand muscle atrophy	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0007149	HP:0009130	Hand muscle atrophy	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0007149	HP:0009130	Hand muscle atrophy	1	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0007149	HP:0009130	Hand muscle atrophy	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0007149	HP:0009130	Hand muscle atrophy	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0007149	HP:0009130	Hand muscle atrophy	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0007149	HP:0009130	Hand muscle atrophy	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0007149	HP:0009130	Hand muscle atrophy	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0007149	HP:0009130	Hand muscle atrophy	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0007149	HP:0009130	Hand muscle atrophy	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0007149	HP:0009130	Hand muscle atrophy	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0007149	HP:0009130	Hand muscle atrophy	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0007149	HP:0009130	Hand muscle atrophy	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0007149	HP:0009130	Hand muscle atrophy	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0007149	HP:0009130	Hand muscle atrophy	1	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5		87
HP:0007149	HP:0009130	Hand muscle atrophy	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0007149	HP:0009130	Hand muscle atrophy	1	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0007149	HP:0009130	Hand muscle atrophy	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0007149	HP:0009130	Hand muscle atrophy	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0007149	HP:0009130	Hand muscle atrophy	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0007149	HP:0009130	Hand muscle atrophy	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0007149	HP:0009130	Hand muscle atrophy	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0007149	HP:0009130	Hand muscle atrophy	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0007149	HP:0009130	Hand muscle atrophy	1	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type		62
HP:0007149	HP:0009130	Hand muscle atrophy	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0007149	HP:0009130	Hand muscle atrophy	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0007149	HP:0009130	Hand muscle atrophy	1	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type		5
HP:0007149	HP:0009130	Hand muscle atrophy	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0007149	HP:0009130	Hand muscle atrophy	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0007149	HP:0009130	Hand muscle atrophy	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0007149	HP:0009130	Hand muscle atrophy	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent	63
HP:0007149	HP:0003393	Thenar muscle atrophy	2	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	105
HP:0007149	HP:0003393	Thenar muscle atrophy	2	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0007149	HP:0003393	Thenar muscle atrophy	2	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0007149	HP:0003393	Thenar muscle atrophy	2	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040283 - Occasional	600
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040281 - Very frequent	197
HP:0007149	HP:0003393	Thenar muscle atrophy	2	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0007149	HP:0003393	Thenar muscle atrophy	2	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent
HP:0007149	HP:0003393	Thenar muscle atrophy	2	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	.
HP:0007149	HP:0003393	Thenar muscle atrophy	2	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0007149	HP:0003393	Thenar muscle atrophy	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040282 - Frequent	286
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	134
HP:0007149	HP:0003393	Thenar muscle atrophy	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0007149	HP:0003393	Thenar muscle atrophy	2	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040282 - Frequent	4
HP:0007149	HP:0003393	Thenar muscle atrophy	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	79
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0007149	HP:0003393	Thenar muscle atrophy	2	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	87
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent	1200
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0007149	HP:0003393	Thenar muscle atrophy	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0007149	HP:0003393	Thenar muscle atrophy	2	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0007149	HP:0003393	Thenar muscle atrophy	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0007149	HP:0003393	Thenar muscle atrophy	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	62
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	5
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0007149	HP:0008954	Intrinsic hand muscle atrophy	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63

Genes (60) :ACTA1 ALS2 BSCL2 CADM3 CAV3 CEP126 CHCHD10 CHRNA1 COMP CPLANE1 DCTN1 DYSF FBLN5 FLNC FUZ FXN GARS1 GBF1 GDAP1 GIPC1 GJB1 HARS1 HINT1 HSPB3 IDUA INF2 JAG1 KANSL1 KIF1A KLHL9 LDB3 LMNA MARS1 MATR3 MORC2 MPZ NEB NEFL NGLY1 NOTCH2NLC PDK3 PLOD3 PMP22 PRX REEP1 RYR1 SLC12A6 SLC25A21 SLC39A13 SLC52A3 SLC5A6 SPG11 SQSTM1 SVBP TFG TIA1 TIMM8A TNR TRPV4 VCP

Diseases (69) :OMIM:616852 OMIM:205100 ORPHA:100998 ORPHA:139536 OMIM:619112 OMIM:270685 OMIM:619519 ORPHA:488650 OMIM:614321 ORPHA:65684 ORPHA:276435 OMIM:601462 OMIM:619161 OMIM:607641 ORPHA:178400 ORPHA:45448 OMIM:619764 ORPHA:63273 OMIM:614065 ORPHA:1136 ORPHA:95 OMIM:601472 OMIM:600794 OMIM:606483 ORPHA:99944 ORPHA:101097 ORPHA:98897 OMIM:302800 ORPHA:101075 ORPHA:488333 ORPHA:324442 OMIM:613376 OMIM:607015 OMIM:614455 OMIM:619574 ORPHA:363958 ORPHA:363965 OMIM:614213 ORPHA:399081 ORPHA:98912 ORPHA:98856 OMIM:616280 ORPHA:600 OMIM:616688 ORPHA:3115 OMIM:256030 ORPHA:101085 OMIM:607684 OMIM:615273 ORPHA:352675 OMIM:612394 ORPHA:90658 OMIM:614895 ORPHA:178145 OMIM:620068 OMIM:618811 OMIM:612350 ORPHA:157965 OMIM:211530 OMIM:619903 OMIM:604360 ORPHA:603 OMIM:618569 OMIM:615658 OMIM:304700 OMIM:619653 OMIM:606071 ORPHA:329478 ORPHA:435387

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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