ORPHA:730332
Charcot-Marie-Tooth disease type 1J
Synonyms: CMT1J
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 1J | CMT1J |
| fr | Maladie de Charcot-Marie-Tooth type 1J | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 1J | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 1J | = en |
| it | Malattia di Charcot-Marie-Tooth tipo 1J | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 1J | = en |
| pt | Charcot-Marie-Tooth disease type 1J | |
| pl | Charcot-Marie-Tooth disease type 1J | = en |
| cs | Charcot-Marie-Tooth disease type 1J | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620111 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:65753Charcot-Marie-Tooth disease type 1
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITPR3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6182 | 6p21.31 | inositol 1,4,5-trisphosphate receptor type 3 | 38938188[PMID]_32949214[PMID]_39270020[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/730332
- This record as JSON: /data/d/730332.json