congenital muscular dystrophy-dystroglycanopathy type A5

Summary
Synonym
  • MDDGA5
  • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0111241
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79147 FKRP fukutin related protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
243853 Fkrp fukutin related protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
308390 Fkrp fukutin related protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
37375 CG15651 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
571426 fkrp fukutin related protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100145309 fkrp fukutin related protein Xenopus tropicalis (tropical clawed frog)
108698503 fkrp.L fukutin related protein L homeolog Xenopus laevis (African clawed frog)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9H9S5 Ribitol 5-phosphate transferase FKRP
The Human Phenotype Ontology
Displaying entries 1 - 10 of 85 in total
HPO ID HPO Term
HP:0000238 Hydrocephalus
HP:0000486 Strabismus
HP:0000501 Glaucoma
HP:0000505 Visual impairment
HP:0000518 Cataract
HP:0000545 Myopia
HP:0000648 Optic atrophy
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001276 Hypertonia
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-)

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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