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autosomal recessive limb-girdle muscular dystrophy type 2U
Summary
- Synonym
-
- LGMD2U
- MDDGC7
- autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
- muscular dystrophy limb-girdle type 2U
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110295
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 8972 | MGAM | maltase-glucoamylase | |
| 9104 | RGN | regucalcin | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 22933 | SIRT2 | sirtuin 2 | |
| 26033 | ATRNL1 | attractin like 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2X0 | Dolichol-phosphate mannosyltransferase subunit 3 | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y259 | Choline/ethanolamine kinase | |
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003326 | Myalgia |
| HP:0002505 | Loss of ambulation |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0000478 | Abnormality of the eye |
| HP:0003707 | Calf muscle pseudohypertrophy |
| HP:0011446 | Abnormality of mental function |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000158 | Macroglossia |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0008305 | Exercise-induced myoglobinuria |
