congenital muscular dystrophy-dystroglycanopathy type A9

Summary
Synonym
  • MDDGA9
  • Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0111232
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1605 DAG1 dystroglycan 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
36773 Dg Dystroglycan
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q14118 Dystroglycan 1
The Human Phenotype Ontology
Displaying entries 31 - 40 of 69 in total
HPO ID HPO Term
HP:0000501 Glaucoma
HP:0000528 Anophthalmia
HP:0000541 Retinal detachment
HP:0000568 Microphthalmia
HP:0000587 Abnormal optic nerve morphology
HP:0000612 Iris coloboma
HP:0000648 Optic atrophy
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001252 Hypotonia
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description
84197 POMK protein O-mannose kinase
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024