muscular dystrophy-dystroglycanopathy type B6

Summary
Synonym
  • MDC1D
  • MDDGB6
  • congenital muscular dystrophy LARGE-related
  • congenital muscular dystrophy type 1D
  • muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
  • muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
Definition
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
Super Class
autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
Disease Ontology
DOID:0110637
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 18 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
2218 FKTN fukutin
2632 GBE1 1,4-alpha-glucan branching enzyme 1
3098 HK1 hexokinase 1
4534 MTM1 myotubularin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
16795 Large1 LARGE xylosyl- and glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
361368 Large1 LARGE xylosyl- and glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
446213 large1 LARGE xylosyl- and glucuronyltransferase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
100498555 large1 LARGE xylosyl- and glucuronyltransferase 1 Xenopus tropicalis (tropical clawed frog)
108704366 large1.L LARGE xylosyl- and glucuronyltransferase 1 L homeolog Xenopus laevis (African clawed frog)
108712551 large1.S LARGE xylosyl- and glucuronyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
187206 lge-1 Glycosyltransferase-like protein LARGE
The Human Phenotype Ontology
Displaying entries 41 - 50 of 60 in total
HPO ID HPO Term
HP:0001290 Generalized hypotonia
HP:0003701 Proximal muscle weakness
HP:0000666 Horizontal nystagmus
HP:0003458 EMG: myopathic abnormalities
HP:0009473 Joint contracture of the hand
HP:0001771 Achilles tendon contracture
HP:0000158 Macroglossia
HP:0002269 Abnormality of neuronal migration
HP:0003560 Muscular dystrophy
HP:0004322 Short stature
Displaying all 5 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

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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