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 51 - 60 of 91 in total
HPO ID HPO Term
HP:0002938 Lumbar hyperlordosis
HP:0003236 Elevated circulating creatine kinase concentration
HP:0003325 Limb-girdle muscle weakness
HP:0003327 Axial muscle weakness
HP:0003549 Abnormality of connective tissue
HP:0003560 Muscular dystrophy
HP:0003701 Proximal muscle weakness
HP:0003707 Calf muscle pseudohypertrophy
HP:0003712 Skeletal muscle hypertrophy
HP:0004637 Decreased cervical spine mobility
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