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
..Hypoglycosylation of alpha-dystroglycan (HP:0030046)

Term ID:

30046

Name:

Hypoglycosylation of alpha-dystroglycan

Synonym:

Definition:

A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.

Comments:

Reference:

HP:0030046

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced muscle fiber alpha dystroglycan (HP:0030099)

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:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040281 - Very frequent
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.	108
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	157
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	157
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040281 - Very frequent	184
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	34
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	34
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.	34
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.	34
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	.	34
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	136
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	180
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	18
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	213
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	213
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	221
HP:0030046	HP:0030046	Hypoglycosylation of alpha-dystroglycan	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	221

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

Diseases (10) :ORPHA:352479 OMIM:616052 ORPHA:370997 OMIM:613818 ORPHA:370959 ORPHA:370968 ORPHA:272 OMIM:615350 OMIM:615351 OMIM:615352

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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