ORPHA:435819
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Synonyms: CMT2 due to TFG mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation | CMT2 due to TFG mutation |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de TFG | CMT2 due à une mutation de TFG |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch TFG-Genmutation | CMT2 durch TFG-Genmutation |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen TFG | CMT2 por una mutación en el gen TFG |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2, da mutazione di TFG | CMT2 da mutazione di TFG |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door TFG-mutatie | CMT2 door TFG-mutatie |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 por mutação TGF | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 spowodowana mutacją TFG | CMT2 spowodowana mutacją TFG |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2, způsobená mutacemi v TFG genu | CMT2 způsobená mutacemi v TFG genu · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2, způsobená mutacemi v TFG genu |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією TFG | CMT2 через мутацію TFG |
| zh | TFG突变所致常染色体显性遗传性夏科-马里-图斯病2型 | TFG突变导致的CMT2 |
| tr | TFG mutasyonuna bağlı otozomal dominant Charcot-Marie-Tooth hastalığı tip 2 | TFG mutasyonuna bağlı CMT2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0018567 | E | validated | |
| UMLS | C5569028 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TFG | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11758 | ENSG00000114354 | 602498 | 3q12.2 | trafficking from ER to golgi regulator | 25098539[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25098539[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25098539[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435819
- This record as JSON: /data/d/435819.json