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:
Muscle weakness (HP:0001324)

Parent Node:
Proximal muscle weakness (HP:0003701)

..Starting node
..Gowers sign (HP:0003391)

Term ID:

3391

Name:

Gowers sign

Synonym:

Gower sign; Positive Gower sign; Positive Gowers sign

Definition:

A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.

Comments:

Reference:

HP:0003391

Genes and Diseases:

Child Nodes:

Sister Nodes:

Late-onset proximal muscle weakness (HP:0003694)

Progressive proximal muscle weakness (HP:0009073)

Proximal muscle weakness in lower limbs (HP:0008994)

Proximal muscle weakness in upper limbs (HP:0008997)

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:0003391	HP:0003391	Gowers sign	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0003391	HP:0003391	Gowers sign	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040283 - Occasional	96
HP:0003391	HP:0003391	Gowers sign	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0003391	HP:0003391	Gowers sign	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0003391	HP:0003391	Gowers sign	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0003391	HP:0003391	Gowers sign	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	.	46
HP:0003391	HP:0003391	Gowers sign	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0003391	HP:0003391	Gowers sign	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040282 - Frequent	46
HP:0003391	HP:0003391	Gowers sign	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.	46
HP:0003391	HP:0003391	Gowers sign	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	99
HP:0003391	HP:0003391	Gowers sign	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0003391	HP:0003391	Gowers sign	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7	.	35
HP:0003391	HP:0003391	Gowers sign	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.	53
HP:0003391	HP:0003391	Gowers sign	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0003391	HP:0003391	Gowers sign	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0003391	HP:0003391	Gowers sign	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0003391	HP:0003391	Gowers sign	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0003391	HP:0003391	Gowers sign	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0003391	HP:0003391	Gowers sign	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0003391	HP:0003391	Gowers sign	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional	108
HP:0003391	HP:0003391	Gowers sign	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.	108
HP:0003391	HP:0003391	Gowers sign	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.	1496
HP:0003391	HP:0003391	Gowers sign	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0003391	HP:0003391	Gowers sign	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0003391	HP:0003391	Gowers sign	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0003391	HP:0003391	Gowers sign	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.	91
HP:0003391	HP:0003391	Gowers sign	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0003391	HP:0003391	Gowers sign	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0003391	HP:0003391	Gowers sign	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0003391	HP:0003391	Gowers sign	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.	184
HP:0003391	HP:0003391	Gowers sign	0	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	HP:0040283 - Occasional	86
HP:0003391	HP:0003391	Gowers sign	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0003391	HP:0003391	Gowers sign	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0003391	HP:0003391	Gowers sign	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0003391	HP:0003391	Gowers sign	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0003391	HP:0003391	Gowers sign	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0003391	HP:0003391	Gowers sign	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.	7
HP:0003391	HP:0003391	Gowers sign	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency		127
HP:0003391	HP:0003391	Gowers sign	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003391	HP:0003391	Gowers sign	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0003391	HP:0003391	Gowers sign	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0003391	HP:0003391	Gowers sign	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.	72
HP:0003391	HP:0003391	Gowers sign	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0003391	HP:0003391	Gowers sign	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.	217
HP:0003391	HP:0003391	Gowers sign	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	HP:0040284 - Very rare	118
HP:0003391	HP:0003391	Gowers sign	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.	19
HP:0003391	HP:0003391	Gowers sign	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.	759
HP:0003391	HP:0003391	Gowers sign	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent	759
HP:0003391	HP:0003391	Gowers sign	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.	65
HP:0003391	HP:0003391	Gowers sign	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0003391	HP:0003391	Gowers sign	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0003391	HP:0003391	Gowers sign	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.	180
HP:0003391	HP:0003391	Gowers sign	0	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	.	33
HP:0003391	HP:0003391	Gowers sign	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.	18
HP:0003391	HP:0003391	Gowers sign	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0003391	HP:0003391	Gowers sign	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003391	HP:0003391	Gowers sign	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	.	73
HP:0003391	HP:0003391	Gowers sign	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0003391	HP:0003391	Gowers sign	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0003391	HP:0003391	Gowers sign	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040283 - Occasional	144
HP:0003391	HP:0003391	Gowers sign	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent	132
HP:0003391	HP:0003391	Gowers sign	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0003391	HP:0003391	Gowers sign	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0003391	HP:0003391	Gowers sign	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F	.	223
HP:0003391	HP:0003391	Gowers sign	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040283 - Occasional	83
HP:0003391	HP:0003391	Gowers sign	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0003391	HP:0003391	Gowers sign	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	20
HP:0003391	HP:0003391	Gowers sign	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.	1129
HP:0003391	HP:0003391	Gowers sign	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0003391	HP:0003391	Gowers sign	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0003391	HP:0003391	Gowers sign	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0003391	HP:0003391	Gowers sign	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0003391	HP:0003391	Gowers sign	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0003391	HP:0003391	Gowers sign	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0003391	HP:0003391	Gowers sign	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0003391	HP:0003391	Gowers sign	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003391	HP:0003391	Gowers sign	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0003391	HP:0003391	Gowers sign	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	7128
HP:0003391	HP:0003391	Gowers sign	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003391	HP:0003391	Gowers sign	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.	10

Genes (64) :ACBD5 ACTA1 ALG14 ALG2 ASAH1 BICD2 BIN1 CFL2 CHKB CHRNA1 CHRNE COL12A1 COL6A1 COL6A2 COL6A3 DAG1 DMD DNA2 DNAJB6 DOK7 DPAGT1 DPM3 FKTN GATM GFPT1 GMPPB HACD1 INPP5K ITGA7 LAMA2 MICU1 MSTO1 MUSK MYPN NEFL ORAI1 PLEC PNPLA2 PNPLA8 POMGNT1 POMGNT2 POMK POMT1 PYROXD1 RAPSN RYR1 SECISBP2 SELENON SGCA SGCB SGCD SGCG SPEG SYNE1 TAFAZZIN TK2 TPM2 TPM3 TRAPPC11 TRIM32 TRPV4 TTN UNC45B VMA21

Diseases (66) :OMIM:618863 ORPHA:97244 ORPHA:97240 ORPHA:353327 OMIM:616228 OMIM:159950 ORPHA:363454 OMIM:615290 ORPHA:169186 OMIM:255200 OMIM:610687 OMIM:602541 OMIM:608930 OMIM:608931 ORPHA:610 ORPHA:280333 OMIM:613818 OMIM:310200 ORPHA:352470 OMIM:615156 OMIM:603511 OMIM:254300 OMIM:612937 OMIM:611615 OMIM:611588 OMIM:612718 OMIM:610542 OMIM:619967 OMIM:617404 OMIM:613204 OMIM:618138 OMIM:615673 ORPHA:502423 OMIM:616325 ORPHA:171881 OMIM:617336 OMIM:617882 OMIM:612782 OMIM:613723 ORPHA:254361 OMIM:610717 ORPHA:98908 OMIM:251950 OMIM:613157 OMIM:618135 OMIM:616094 ORPHA:86812 OMIM:617258 OMIM:616326 ORPHA:171706 ORPHA:62 OMIM:608099 ORPHA:119 OMIM:601287 ORPHA:353 OMIM:253700 OMIM:618484 ORPHA:319332 OMIM:302060 OMIM:609560 OMIM:609285 OMIM:615356 OMIM:254110 OMIM:181405 OMIM:619178 OMIM:310440

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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