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autosomal recessive limb-girdle muscular dystrophy type 2I
Summary
- Synonym
-
- LGMD2I
- Limb-girdle muscular dystrophy due to FKRP deficiency
- MDDGC5
- muscular dystrophy limb-girdle type 2I
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
- muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110299
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
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:0003547 | Shoulder girdle muscle weakness |
| HP:0002359 | Frequent falls |
| HP:0003749 | Pelvic girdle muscle weakness |
| HP:0001290 | Generalized hypotonia |
| HP:0003560 | Muscular dystrophy |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0002650 | Scoliosis |
| HP:0001270 | Motor delay |
| HP:0003551 | Difficulty climbing stairs |
| HP:0005109 | Abnormality of the Achilles tendon |
