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autosomal recessive limb-girdle muscular dystrophy type 2Y
Summary
- Synonym
-
- LGMD2Y
- autosomal recessive muscular dystrophy due to LAP1B deficiency
- autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
- muscular dystrophy with progressive weakness, distal contractures and rigid spine
- muscular dystrophy, limb-girdle, type 2Y
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110289
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 176 | ACAN | aggrecan | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 239 | ALOX12 | arachidonate 12-lipoxygenase, 12S type | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1119 | CHKA | choline kinase alpha |
Related Glycoprotein
