muscular dystrophy-dystroglycanopathy type B5

Summary
Synonym
  • FKRP-related congenital muscular dystrophy
  • MDC1C
  • MDDGB5
  • congenital muscular dystrophy 1C
  • muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
  • muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Definition
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
Super Class
autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
Disease Ontology
DOID:0110635
ORDO
MGI genotype (from TogoID)
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
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 110 in total
HPO ID HPO Term
HP:0000158 Macroglossia
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000485 Megalocornea
HP:0000486 Strabismus
HP:0000518 Cataract
HP:0000525 Abnormality iris morphology
HP:0000541 Retinal detachment
HP:0000545 Myopia
HP:0000568 Microphthalmia
Displaying all 9 entries
Gene ID Gene Symbol Description
29954 POMT2 protein O-mannosyltransferase 2
10585 POMT1 protein O-mannosyltransferase 1
29925 GMPPB GDP-mannose pyrophosphorylase B
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
2218 FKTN fukutin
729920 CRPPA CDP-L-ribitol pyrophosphorylase A

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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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