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 51 - 60 of 80 in total
HPO ID HPO Term
HP:0001339 Lissencephaly
HP:0001460 Aplasia/Hypoplasia involving the skeletal musculature
HP:0002119 Ventriculomegaly
HP:0002126 Polymicrogyria
HP:0002269 Abnormality of neuronal migration
HP:0002334 Abnormal cerebellar vermis morphology
HP:0002536 Abnormal cortical gyration
HP:0003202 Skeletal muscle atrophy
HP:0003560 Muscular dystrophy
HP:0007731 Chorioretinal dysplasia
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description
10585 POMT1 protein O-mannosyltransferase 1
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
2218 FKTN fukutin
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
79147 FKRP fukutin related protein
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10329 RXYLT1 ribitol xylosyltransferase 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