Autosomal dominant Charcot-Marie-Tooth disease type 2U
Synonyms: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation · CMT2U
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2U | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation · CMT2U |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2U | CMT2U · Maladie de Charcot-Marie-Tooth autosomique dominante type 2 par mutation de MARS |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2U | CMT2U · Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch MARS-Genmutation |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2U | CMT2U · Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen MARS |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2U | CMT2U · Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2, da mutazione di MARS |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2U | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door MARS-mutatie · CMT2U |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2U | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 por mutação MARS |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2U | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 z powodu mutacji MARS · CMT2U |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2U | CMT2U · Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2, způsobená mutacemi v genu MARS · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2U · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2, způsobená mutacemi v genu MARS |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2U | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією MARS · CMT2U |
| zh | 常染色体显性遗传性夏科-马里-图斯病2U型 | MARS突变所致常染色体显性遗传性夏科-马里-图斯病2型 |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2U | CMT2U · MARS mutasyonuna bağlı otozomal baskın Charcot-Marie-Tooth hastalığı tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616280 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0014566 | E | validated | |
| UMLS | C4084821 | 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 |
|---|---|---|---|---|---|---|---|---|
| MARS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6898 | ENSG00000166986 | 156560 | 12q13.3 | methionyl-tRNA synthetase 1 | 23729695[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23729695[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23729695[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/397735
- This record as JSON: /data/d/397735.json