Charcot-Marie-Tooth disease type 2R
Synonyms: CMT2R
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 2R | CMT2R |
| fr | Maladie de Charcot-Marie-Tooth type 2R | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 2R | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 2R | = en |
| it | Malattia di Charcot-Marie-Tooth, tipo 2R | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 2R | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 2R | |
| pl | Choroba Charcota, Mariego i Tootha typu 2R | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 2R | CMT2R · Charcot-Marie-Toothova nemoc, typ 2R |
| uk | Хвороба Шарко-Марі-Тута, тип 2R | = en |
| zh | Charcot-Marie-Tooth病2R型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tipi 2R | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615490 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0014208 | E | validated | |
| UMLS | C3809655 | 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:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRIM2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15974 | ENSG00000109654 | 614141 | 4q31.3 | tripartite motif containing 2 | 23562820[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 23562820[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23562820[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/397968
- This record as JSON: /data/d/397968.json