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Charcot-Marie-Tooth disease X-linked recessive 5
Summary
- Synonym
-
- CMT5X
- CMTX5
- Charcot-Marie-Tooth neuropathy X-linked recessive 5
- Rosenberg-Chutorian syndrome
- X-linked Charcot-Marie-Tooth disease type 5
- optic atrophy, polyneuropathy, and deafness
- Definition
- A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.
- Super Class
- Charcot-Marie-Tooth disease type X X-linked recessive disease
External Links
- Disease Ontology
- DOID:0110210
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 821 | CANX | calnexin | |
| 847 | CAT | catalase | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2877 | GPX2 | glutathione peroxidase 2 | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3098 | HK1 | hexokinase 1 | |
| 3931 | LCAT | lecithin-cholesterol acyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 | |
| P04040 | Catalase | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P04156 | Major prion protein | |
| P04180 | Phosphatidylcholine-sterol acyltransferase | |
| P12821 | Angiotensin-converting enzyme | |
| P15289 | Arylsulfatase A | |
| P16070 | CD44 antigen | |
| P19367 | Hexokinase-1 | |
| P20916 | Myelin-associated glycoprotein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001761 | Pes cavus |
| HP:0000763 | Sensory neuropathy |
| HP:0002808 | Kyphosis |
| HP:0001284 | Areflexia |
| HP:0007328 | Impaired pain sensation |
| HP:0001324 | Muscle weakness |
| HP:0001260 | Dysarthria |
| HP:0002463 | Language impairment |
| HP:0003693 | Distal amyotrophy |
| HP:0000529 | Progressive visual loss |
