ORPHA:99937
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Synonyms: CMT2C
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2C | CMT2C |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2C | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2C | = en |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2C | |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2C | = en |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2C | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2C | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2C | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2C | CMT2C · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2C |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2С | = en |
| zh | 常染色体显性遗传腓骨肌萎缩症2C型 | = en |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2C | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606071 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0011633 | E | validated | |
| MeSH | C565261 | E | validated | |
| UMLS | C1853710 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:64746Autosomal dominant Charcot-Marie-Tooth disease type 2
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPV4 | Disease-causing germline mutation(s) in | Assessed | HGNC:18083 | ENSG00000111199 | 605427 | 12q24.11 | transient receptor potential cation channel subfamily V member 4 | 20301462[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 20037586[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 20037586[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99937
- This record as JSON: /data/d/99937.json