ORPHA:99946
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Synonyms: CMT2A1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2A1 | CMT2A1 |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2A1 | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2A1 | = en |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2A1 | |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2A1 | = en |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2A1 | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2A1 | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2A1 | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2A1 | CMT2A1 · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2A1 |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2А1 | = en |
| zh | 常染色体显性遗传腓骨肌萎缩症2A1型 | = en |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2A1 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118210 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0007308 | E | validated | |
| MeSH | C566138 | E | validated | |
| UMLS | C1861678 | E | validated | |
| GARD | 1248 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIF1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16636 | ENSG00000054523 | 605995 | 1p36.22 | kinesin family member 1B | 11389829[PMID]_20301462[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 9409358[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9409358[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99946
- This record as JSON: /data/d/99946.json