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
External Links
Disease Ontology
DOID:0110635
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
31 ACACA acetyl-CoA carboxylase alpha
43 ACHE acetylcholinesterase (Yt blood group)
217 ALDH2 aldehyde dehydrogenase 2 family member
952 CD38 CD38 molecule
1120 CHKB choline kinase beta
1272 CNTN1 contactin 1
1605 DAG1 dystroglycan 1
2218 FKTN fukutin
2632 GBE1 1,4-alpha-glucan branching enzyme 1
3098 HK1 hexokinase 1
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)
The Human Phenotype Ontology
Displaying entries 31 - 40 of 110 in total
HPO ID HPO Term
HP:0001319 Neonatal hypotonia
HP:0001320 Cerebellar vermis hypoplasia
HP:0001321 Cerebellar hypoplasia
HP:0001347 Hyperreflexia
HP:0001349 Facial diplegia
HP:0001638 Cardiomyopathy
HP:0001771 Achilles tendon contracture
HP:0002079 Hypoplasia of the corpus callosum
HP:0002085 Occipital encephalocele
HP:0002093 Respiratory insufficiency
Displaying all 9 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
2218 FKTN fukutin
729920 CRPPA CDP-L-ribitol pyrophosphorylase A

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024