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autosomal recessive limb-girdle muscular dystrophy type 2P
Summary
- Synonym
-
- LGMD2P
- MDDGC9
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
- muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110293
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1120 | CHKB | choline kinase beta | |
| 1497 | CTNS | cystinosin, lysosomal cystine transporter | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1634 | DCN | decorin | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1800 | DPEP1 | dipeptidase 1 | |
| 2023 | ENO1 | enolase 1 | |
| 2218 | FKTN | fukutin | |
| 2548 | GAA | alpha glucosidase | |
| 2710 | GK | glycerol kinase |
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:0002317 | Unsteady gait |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0002515 | Waddling gait |
| HP:0003551 | Difficulty climbing stairs |
| HP:0001263 | Global developmental delay |
| HP:0003560 | Muscular dystrophy |
| HP:0000750 | Delayed speech and language development |
| HP:0011463 | Childhood onset |
| HP:0002355 | Difficulty walking |
| HP:0000007 | Autosomal recessive inheritance |
