congenital muscular dystrophy-dystroglycanopathy type A10

Summary
Synonym
  • MDDGA10
  • Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0111239
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10329 RXYLT1 ribitol xylosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
216395 Rxylt1 ribitol xylosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
299841 Rxylt1 ribitol xylosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
557187 rxylt1 ribitol xylosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
446820 rxylt1.S ribitol xylosyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
100145540 rxylt1 ribitol xylosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9Y2B1 Ribitol-5-phosphate xylosyltransferase 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 53 in total
HPO ID HPO Term
HP:0000482 Microcornea
HP:0000501 Glaucoma
HP:0000518 Cataract
HP:0000528 Anophthalmia
HP:0000541 Retinal detachment
HP:0000556 Retinal dystrophy
HP:0000568 Microphthalmia
HP:0000587 Abnormal optic nerve morphology
HP:0000612 Iris coloboma
HP:0000648 Optic atrophy
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
1605 DAG1 dystroglycan 1
2218 FKTN fukutin
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

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