Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P60891 | Ribose-phosphate pyrophosphokinase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001288 | Gait disturbance |
| HP:0000648 | Optic atrophy |
| HP:0001324 | Muscle weakness |
| HP:0001262 | Excessive daytime somnolence |
| HP:0002808 | Kyphosis |
| HP:0001251 | Ataxia |
| HP:0001419 | X-linked recessive inheritance |
| HP:0000529 | Progressive visual loss |
| HP:0003383 | Onion bulb formation |
| HP:0001271 | Polyneuropathy |
