Autosomal dominant Charcot-Marie-Tooth disease type 2B
Synonyms: CMT2B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2B | CMT2B |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2B | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2B | = en |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2B | |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2B | = en |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2B | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2B | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2B | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2B | CMT2B · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2B |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2B | = en |
| zh | 常染色体显性遗传腓骨肌萎缩症2B型 | = en |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2B | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600882 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0010949 | E | validated | |
| MeSH | C537989 | E | validated | |
| UMLS | C1833219 | E | validated | |
| GARD | 9192 | 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 |
|---|---|---|---|---|---|---|---|---|
| RAB7A | Disease-causing germline mutation(s) in | Assessed | HGNC:9788 | ENSG00000075785 | 602298 | 3q21.3 | RAB7A, member RAS oncogene family | 20301462[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 15455439[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 15455439[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99936
- This record as JSON: /data/d/99936.json