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congenital muscular dystrophy-dystroglycanopathy type A13

Summary
Synonym
  • MDDGA13
  • Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
  • Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0111238
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
108902 B4gat1 beta-1,4-glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
293667 B4gat1 beta-1,4-glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
37861 CG3253 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
101669768 b4gat1 beta-1,4-glucuronyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100170600 b4gat1 beta-1,4-glucuronyltransferase 1 Xenopus tropicalis (tropical clawed frog)
108713949 b4gat1.L beta-1,4-glucuronyltransferase 1 L homeolog Xenopus laevis (African clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
182795 bgnt-1.4 B3GNT1, Beta-1,3-N-acetylGucosamiNylTransferase 1, homolog;Glyco_trans_2-like domain-containing protein
3565692 bgnt-1.5 B3GNT1, Beta-1,3-N-acetylGucosamiNylTransferase 1, homolog
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O43505 Beta-1,4-glucuronyltransferase 1
The Human Phenotype Ontology
Displaying entries 51 - 60 of 71 in total
HPO ID HPO Term
HP:0002500 Abnormal cerebral white matter morphology
HP:0000126 Hydronephrosis
HP:0002282 Gray matter heterotopia
HP:0006829 Severe muscular hypotonia
HP:0000007 Autosomal recessive inheritance
HP:0002335 Agenesis of cerebellar vermis
HP:0000618 Blindness
HP:0007759 Opacification of the corneal stroma
HP:0100565 Hydromyelia
HP:0002085 Occipital encephalocele
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