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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
| 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 |
| 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) |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002987 | Elbow flexion contracture |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0003593 | Infantile onset |
| HP:0001335 | Bimanual synkinesia |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
| HP:0001302 | Pachygyria |
| HP:0001252 | Hypotonia |
| HP:0003487 | Babinski sign |
| HP:0002187 | Intellectual disability, profound |
