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 11 - 18 of 18 in total
Gene ID Gene Symbol Description Source
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
64419 MTMR14 myotubularin related protein 14
79147 FKRP fukutin related protein
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