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 11 - 20 of 85 in total
HPO ID HPO Term
HP:0001288 Gait disturbance
HP:0001360 Holoprosencephaly
HP:0001608 Abnormality of the voice
HP:0002167 Abnormality of speech or vocalization
HP:0002353 EEG abnormality
HP:0002435 Meningocele
HP:0003198 Myopathy
HP:0003236 Elevated circulating creatine kinase concentration
HP:0003457 EMG abnormality
HP:0004374 Hemiplegia/hemiparesis
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