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autosomal recessive limb-girdle muscular dystrophy type 2K
Summary
- Synonym
-
- LGMD2K
- MDDGC1
- limb-girdle muscular dystrophy-intellectual disability syndrome
- muscular dystrophy limb-girdle type 2K
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110297
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 54344 | DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 55750 | AGK | acylglycerol kinase | |
| 56983 | POGLUT1 | protein O-glucosyltransferase 1 | |
| 79147 | FKRP | fukutin related protein | |
| 84197 | POMK | protein O-mannose kinase |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0002027 | Abdominal pain |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0001249 | Intellectual disability |
| HP:0003391 | Gowers sign |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0002515 | Waddling gait |
| HP:0000729 | Autistic behavior |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003701 | Proximal muscle weakness |
