Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Synonyms: CMT2 due to KIF5A mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation | CMT2 due to KIF5A mutation |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de KIF5A | CMT2 due à une mutation de KIF5A |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch KIF5A-Genmutation | CMT2 durch KIF5A-Genmutation |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen KIF5A | CMT2 por una mutación en el gen KIF5A |
| it | Malattia di Charcot-Marie-Tooth tipo 2 autosomica dominante da mutazione di KIF5A | CMT2 da mutazione di KIF5A |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door KIF5A-mutatie | CMT2 door KIF5A-mutatie |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 devida a mutação KIF5A | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 z powodu mutacji KIF5A | CMT z powodu mutacji KIF5A |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2, způsobený KIF5A mutací | CMT2 způsobená KIF5A mutací · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2, způsobený KIF5A mutací |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією KIF5A | CMT2 внаслідок мутації KIF5A |
| zh | KIF5A基因突变所致常染色体显性遗传夏科-马里-图斯症2型 | KIF5A基因突变所致夏科-马里-图斯病2型 |
| tr | KIF5A mutasyonuna bağlı otozomal dominant Charcot-Marie-Tooth hastalığı tip 2 | KIF5A mutasyonuna bağlı CMT2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0017940 | E | validated | |
| UMLS | C4707173 | 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 |
|---|---|---|---|---|---|---|---|---|
| KIF5A | Disease-causing germline mutation(s) in | Assessed | HGNC:6323 | ENSG00000155980 | 602821 | 12q13.3 | kinesin family member 5A | 21623771[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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/324611
- This record as JSON: /data/d/324611.json