ORPHA:99944
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Synonyms: CMT2K
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2K | CMT2K |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2K | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2K | = en |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2K | |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2K | = en |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2K | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2K | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2K | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2K | CMT2K · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2K |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2К | = en |
| zh | 常染色体显性遗传腓骨肌萎缩症2K型 | = en |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2K | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607831 | NTBT | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0020558 | E | validated | |
| MeSH | C564325 | E | validated | |
| UMLS | C1842984 | 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 |
|---|---|---|---|---|---|---|---|---|
| GDAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15968 | ENSG00000104381 | 606598 | 8q21.11 | ganglioside induced differentiation associated protein 1 | 20301462[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 18231710[PMID]_19089472[PMID]_20685671[PMID]_21753178[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18231710[PMID]_19089472[PMID]_20685671[PMID]_21753178[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
10 annotations · validated 2018-07-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0002460 | Distal muscle weakness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0001288 | Gait disturbance | |
| HP:0009130 | Hand muscle atrophy | |
| HP:0011096 | Peripheral demyelination | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0001270 | Motor delay | |
Annotation source: 18231710[PMID]_21753178[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99944
- This record as JSON: /data/d/99944.json