congenital muscular dystrophy-dystroglycanopathy type A6

Summary
Synonym
  • MDDGA6
  • Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0111242
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
16795 Large1 LARGE xylosyl- and glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
361368 Large1 LARGE xylosyl- and glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
446213 large1 LARGE xylosyl- and glucuronyltransferase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
100498555 large1 LARGE xylosyl- and glucuronyltransferase 1 Xenopus tropicalis (tropical clawed frog)
108704366 large1.L LARGE xylosyl- and glucuronyltransferase 1 L homeolog Xenopus laevis (African clawed frog)
108712551 large1.S LARGE xylosyl- and glucuronyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
187206 lge-1 Glycosyltransferase-like protein LARGE
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O95461 Xylosyl- and glucuronyltransferase LARGE1
The Human Phenotype Ontology
Displaying entries 71 - 80 of 80 in total
HPO ID HPO Term
HP:0100297 Increased endomysial connective tissue
HP:0006956 Lateral ventricle dilatation
HP:0000007 Autosomal recessive inheritance
HP:0007063 Aplasia of the inferior half of the cerebellar vermis
HP:0000519 Developmental cataract
HP:0008081 Pes valgus
HP:0012110 Hypoplasia of the pons
HP:0001290 Generalized hypotonia
HP:0006829 Severe muscular hypotonia
HP:0007260 Type II lissencephaly
Displaying entries 11 - 14 of 14 in total
Gene ID Gene Symbol Description
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
1605 DAG1 dystroglycan 1
84197 POMK protein O-mannose kinase
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024