Autosomal dominant Charcot-Marie-Tooth disease type 2F
Synonyms: CMT2F
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Elderly
- Status
- active
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2F | CMT2F |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2F | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2F | = en |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2F | |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2F | = en |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2F | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2F | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2F | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2F | CMT2F · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2F |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2F | = en |
| zh | 常染色体显性遗传腓骨肌萎缩症2F型 | = en |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2F | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606595 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0011687 | E | validated | |
| MeSH | C535413 | E | validated | |
| UMLS | C1847823 | E | validated | |
| GARD | 9194 | 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 |
|---|---|---|---|---|---|---|---|---|
| HSPB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5246 | ENSG00000106211 | 602195 | 7q11.23 | heat shock protein family B (small) member 1 | 20301462[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 16087758[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16087758[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
12 annotations · validated 2017-05-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0007328 | Impaired pain sensation | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0007289 | Limb fasciculations | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0003376 | Steppage gait | |
| HP:0001762 | Talipes equinovarus | |
| HP:0009129 | Upper limb amyotrophy | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 11528513[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99940
- This record as JSON: /data/d/99940.json