Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
Synonyms: CMT2 due to DGAT2 mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | CMT2 due to DGAT2 mutation |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de DGAT2 | CMT2 due à une mutation du DGAT2 |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch DGAT2-Genmutation | CMT2 durch DGAT2-Genmutation |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen DGAT2 | CMT2 por una mutación en el gen DGAT2 |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2 da mutazione di DGAT2 | |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 als gevolg van een DGAT2-mutatie | CMT2 als gevolg van een DGAT2-mutatie |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 por mutação DGAT2 | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 spowodowana mutacją DGAT2 | CMT2 z powodu mutacji w DGAT2 |
| cs | Autozomálně dominantní Charcot-Marie-Toothova nemoc typ 2 podmíněná mutací v genu DGAT2 | CMT2 způsobená mutací DGAT2 |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією DGAT2 | CMT2 внаслідок мутації DGAT2 |
| zh | 常染色体显性Charcot-Marie-Tooth病2型DGAT2突变相关 | 夏洛特-玛丽齿病2型DGAT2突变相关 |
| tr | DGAT2 mutasyonuna bağlı otozomal dominant Charcot-Marie-Tooth hastalığı tip 2 | DGAT2 mutasyonu bağlı CMT2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0044625 | E | validated | |
| UMLS | C5567515 | 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 |
|---|---|---|---|---|---|---|---|---|
| DGAT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16940 | ENSG00000062282 | 606983 | 11q13.5 | diacylglycerol O-acyltransferase 2 | 26786738[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 26786738[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26786738[PMID] |
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/487814
- This record as JSON: /data/d/487814.json