Autosomal dominant Charcot-Marie-Tooth disease type 2M
Synonyms: CMT2M
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2M | CMT2M |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2M | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2M | = en |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2M | = en |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2M | = en |
| nl | Autosomale dominante ziekte van Charcot-Marie-Tooth type 2M | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2M | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2M | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2M | CMT2M · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2M |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2М | = en |
| zh | 常染色体显性遗传夏科-马里-图斯病2M型 | = en |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2M | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606482 | NTBT | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0016431 | E | validated | |
| UMLS | C4304672 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2974 | ENSG00000079805 | 602378 | 19p13.2 | dynamin 2 | 18394888[PMID]_17636067[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228179
- This record as JSON: /data/d/228179.json