Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| 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 |
