Autosomal dominant Charcot-Marie-Tooth disease type 2W
Synonyms: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation · CMT2W
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2W | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation · CMT2W |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2W | CMT2W · Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de HARS |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2W | CMT2W · Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2 durch HARS-Genmutation |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2W | CMT2W · Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen HARS |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2W | |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2W | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 als gevolg van een HARS-mutatie · CMT2W |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2W | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2W | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 z powodu mutacji w HARS |
| cs | Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2W | CMT2W · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2W podmíněná mutací HARS genu |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2W | Аутосомно-домінантна хвороба Шарко-Марі-Тута 2 типу, зумовлена мутацією HARS · CMT2W |
| zh | 常染色体显性Charcot-Marie-Tooth病2W型 | HARS突变导致的常染色体显性夏洛特-玛丽齿病2型 |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2W | CMT2W · HARS mutasyonuna bağlı otozomal baskın Charcot-Marie-Tooth hastalığı tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616625 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0014711 | E | validated | |
| UMLS | C5567486 | 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 |
|---|---|---|---|---|---|---|---|---|
| HARS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4816 | ENSG00000170445 | 142810 | 5q31.3 | histidyl-tRNA synthetase 1 | 26072516[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 26072516[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26072516[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
20 annotations · validated 2019-03-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0003474 | Somatic sensory dysfunction | |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001348 | Brisk reflexes | |
| HP:0001288 | Gait disturbance | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0001761 | Pes cavus | |
| HP:0003376 | Steppage gait | |
| Occasional (29-5%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0001765 | Hammertoe | |
| HP:0030237 | Hand muscle weakness | |
| HP:0006937 | Impaired distal tactile sensation | |
| HP:0007328 | Impaired pain sensation | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0012531 | Pain | |
| HP:0003100 | Slender long bone | |
| HP:0030051 | Tip-toe gait | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 26072516[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488333
- This record as JSON: /data/d/488333.json