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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 |
|---|---|---|---|
| 9517 | SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | |
| 10855 | HPSE | heparanase | |
| 23175 | LPIN1 | lipin 1 | |
| 23600 | AMACR | alpha-methylacyl-CoA racemase | |
| 27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 | |
| 51196 | PLCE1 | phospholipase C epsilon 1 | |
| 84649 | DGAT2 | diacylglycerol O-acyltransferase 2 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001288 | Gait disturbance |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0001251 | Ataxia |
| HP:0002385 | Paraparesis |
| HP:0000648 | Optic atrophy |
| HP:0002650 | Scoliosis |
| HP:0001262 | Excessive daytime somnolence |
| HP:0009830 | Peripheral neuropathy |
| HP:0001337 | Tremor |
| HP:0000365 | Hearing impairment |
