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autosomal recessive limb-girdle muscular dystrophy type 2T
Summary
- Synonym
-
- LGMD2T
- MDDGC14
- muscular dystrophy limb-girdle type 2T
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
- muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110294
- 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
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12821 | Angiotensin-converting enzyme | |
| P13727 | Bone marrow proteoglycan | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P16070 | CD44 antigen | |
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 | |
| P17931 | Galectin-3 | |
| P18054 | Polyunsaturated fatty acid lipoxygenase ALOX12 | |
| P22303 | Acetylcholinesterase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0003388 | Easy fatigability |
| HP:0000252 | Microcephaly |
| HP:0003546 | Exercise intolerance |
| HP:0001324 | Muscle weakness |
| HP:0008959 | Distal upper limb muscle weakness |
| HP:0001249 | Intellectual disability |
| HP:0003327 | Axial muscle weakness |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0001252 | Hypotonia |
