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:
Abnormal muscle fiber protein expression (HP:0030089)

Parent Node:
Abnormal muscle fiber alpha dystroglycan (HP:0030112)

..Starting node
..Reduced muscle fiber alpha dystroglycan (HP:0030099)

Term ID:

30099

Name:

Reduced muscle fiber alpha dystroglycan

Synonym:

Reduced muscle fibre alpha dystroglycan

Definition:

Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.

Comments:

Reference:

HP:0030099

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoglycosylation of alpha-dystroglycan (HP:0030046)

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:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040281 - Very frequent	108
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	157
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	157
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040281 - Very frequent	157
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	34
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	34
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	136
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	180
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	18
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	213
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	213
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	221
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	221
HP:0030099	HP:0030099	Reduced muscle fiber alpha dystroglycan	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040281 - Very frequent	221

Genes (10) :CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMK POMT1 POMT2

Diseases (6) :ORPHA:370980 ORPHA:280333 ORPHA:370959 ORPHA:370968 ORPHA:34515 ORPHA:206559

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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