Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Synonyms: CMT2Q
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2Q | CMT2Q |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2Q | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2Q | = en |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2Q | = en |
| it | Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2Q | = en |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2Q | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2Q | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2Q | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2Q | CMT2Q · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2Q |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2Q | = en |
| zh | 常染色体显性夏科-马里-图斯病2Q型 | 夏科-马里-图斯病2Q型 |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2Q | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615025 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0014012 | E | validated | |
| UMLS | C3554366 | 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 |
|---|---|---|---|---|---|---|---|---|
| DHTKD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23537 | ENSG00000181192 | 614984 | 10p14 | dehydrogenase E1 and transketolase domain containing 1 | 23141294[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 23141294[PMID] | |
| 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/329258
- This record as JSON: /data/d/329258.json