Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Synonyms: CMTDIF
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | CMTDIF |
| fr | Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante type F | = en |
| de | Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, Typ F | |
| es | Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante tipo F | = en |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante intermedia tipo F | = en |
| nl | Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type F | = en |
| pt | Doença de Charcot-Marie-Tooth intermédia autossómica dominante tipo F | |
| pl | Autosomalna dominująca pośrednia choroba Charcota, Mariego i Tootha typu F | = en |
| cs | Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ F | CMTDIF · Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ F |
| uk | Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута, тип F | = en |
| zh | 常染色体显性中间型夏科-马里-图斯病F型 | = en |
| tr | Otozomal dominant orta dereceli Charcot-Marie-Tooth hastalığı tip F | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615185 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.2 | NTBT | attributed | validated |
| MONDO | 0014074 | E | validated | |
| UMLS | C4749463 | 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:90114Autosomal dominant intermediate Charcot-Marie-Tooth disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:20731 | ENSG00000114450 | 610863 | 3q26.33 | G protein subunit beta 4 | 23434117[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 23434117[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/352670
- This record as JSON: /data/d/352670.json