congenital muscular dystrophy-dystroglycanopathy A14

Summary
Synonym
  • MDDGA14
  • Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0111233
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29925 GMPPB GDP-mannose pyrophosphorylase B
Displaying 1 entry
Gene ID Gene Symbol Description Source
40599 Gmppb GDP-mannose pyrophosphorylase B
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9Y5P6 Mannose-1-phosphate guanyltransferase beta
The Human Phenotype Ontology
Displaying entries 21 - 30 of 45 in total
HPO ID HPO Term
HP:0007360 Aplasia/Hypoplasia of the cerebellum
HP:0100022 Abnormality of movement
HP:0100543 Cognitive impairment
HP:0002421 Poor head control
HP:0001251 Ataxia
HP:0011463 Childhood onset
HP:0000407 Sensorineural hearing impairment
HP:0003560 Muscular dystrophy
HP:0001324 Muscle weakness
HP:0000175 Cleft palate
Displaying all 9 entries
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

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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