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:
Skeletal muscle atrophy (HP:0003202)

Parent Node:
Generalized amyotrophy (HP:0003700)

..Starting node
..Generalized limb muscle atrophy (HP:0009055)

Term ID:

9055

Name:

Generalized limb muscle atrophy

Synonym:

Generalised limb muscle atrophy; Generalised muscle atrophy, proximal and distal; Generalised muscle wasting; Generalized muscle atrophy, proximal and distal; Generalized muscle wasting

Definition:

Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.

Comments:

Reference:

HP:0009055

Genes and Diseases:

Child Nodes:

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:0009055	HP:0009055	Generalized limb muscle atrophy	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare	60
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.	34
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional	68
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional	65
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent	103
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	57
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.	57
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent	5
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	HP:0040282 - Frequent	223
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0009055	HP:0009055	Generalized limb muscle atrophy	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	45

Genes (20) :ACTA1 CARS1 DARS2 GMPPB KBTBD13 KLHL41 LEMD3 MYH7 MYPN NEB PNPLA2 PNPLA6 PUS1 SCO2 SCYL1 SGCD SPG11 TPM2 TPM3 YARS2

Diseases (14) :ORPHA:171439 OMIM:618891 ORPHA:137898 OMIM:615351 ORPHA:1306 OMIM:608358 ORPHA:98908 ORPHA:139480 ORPHA:2598 OMIM:600462 ORPHA:521411 ORPHA:466794 ORPHA:219 ORPHA:2822

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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