muscular dystrophy-dystroglycanopathy type B14

Summary
Synonym
  • MDDGB14
  • congenital muscular dystrophy GMPPB-related
Definition
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31.
Super Class
autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
Disease Ontology
DOID:0112377
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
The Human Phenotype Ontology
Displaying entries 1 - 10 of 91 in total
HPO ID HPO Term
HP:0000028 Cryptorchidism
HP:0000054 Micropenis
HP:0000158 Macroglossia
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000478 Abnormality of the eye
HP:0000485 Megalocornea
HP:0000486 Strabismus
HP:0000518 Cataract
HP:0000525 Abnormality iris morphology
Displaying all 7 entries
Gene ID Gene Symbol Description
10585 POMT1 protein O-mannosyltransferase 1
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
79147 FKRP fukutin related protein
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
84197 POMK protein O-mannose kinase

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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