ORPHA:65753
Charcot-Marie-Tooth disease type 1
Synonyms: Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1 · Charcot-Marie-Tooth neuropathy type 1 · Hereditary motor and sensory neuropathy type 1
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 1 | Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1 · Charcot-Marie-Tooth neuropathy type 1 · Hereditary motor and sensory neuropathy type 1 |
| fr | Maladie de Charcot-Marie-Tooth type 1 | CMT1 · Maladie de Charcot-Marie-Tooth démyélinisante autosomique dominante · Neuropathie Charcot-Marie-Tooth type 1 · Neuropathie sensitivo-motrice héréditaire type 1 |
| de | Charcot-Marie-Tooth-Krankheit Typ 1 | CMT1 · Charcot-Marie-Tooth-Krankheit, demyeliniserende, autosomal-dominante · Charcot-Marie-Tooth-Neuropathie Typ 1 · Neuropathie, hereditäre motorisch-sensorische, Typ 1 |
| es | Enfermedad de Charcot-Marie-Tooth tipo 1 | Enfermedad de Charcot-Marie-Tooth desmielinizante autosómica dominante · Neuropatía de Charcot-Marie-Tooth tipo 1 |
| it | Malattia di Charcot-Marie-Tooth, tipo 1 | CMT1 · Malattia di Charcot-Marie-Tooth demielinizzante, autosomica dominante · Neuropatia di Charcot-Marie-Tooth, tipo 1 · Neuropatia sensitivo-motoria ereditaria, tipo 1 |
| nl | Ziekte van Charcot-Marie-Tooth type 1 | Autosomaal dominante demyeliniserende ziekte van Charcot-Marie-Tooth · CMT1 · Charcot-Marie-Tooth neuropathie type 1 · Erfelijke motorische en sensorische neuropathie type 1 |
| pt | Doença de Charcot-Marie-Tooth tipo 1 | CMT1 · Doença de Charcot-Marie-Tooth desmilinizante |
| pl | Choroba Charcot, Marie i Tooth typu 1 | Autosomalna dominująca demielinizująca choroba Charcot, Marie i Tooth · CMT1 · Dziedziczna neuropatia ruchowa i czuciowa typu 1 |
| cs | Charcotova-Marieova-Toothova nemoc, typ 1 | CMT1 · Charcotova-Marieova-Toothova neuropatie, typ 1 · Hereditární motorická a senzorická neuropatie, typ 1 · Autozomálně dominantní demyelinizační Charcotova-Marieova-Toothova nemoc · Charcot-Marie-Toothova nemoc, typ 1 · Autozomálně dominantní demyelinizační Charcot-Marie-Toothova nemoc · Charcot-Marie-Toothova neuropatie, typ 1 |
| uk | Хвороба Шарко-Марі-Тута, тип 1 | Аутосомно-домінантна демієлінізуюча хвороба Шарко-Марі-Тута · Невропатія Шарко-Марі-Тута, тип 1 · CMT1 · Спадкова моторна та сенсорна нейропатія типу 1 |
| zh | 腓骨肌萎缩症1型 | 常染色体显性遗传性脱髓鞘Charcot-Marie-Tooth病 |
| tr | Charcot-Marie-Tooth hastalığı tip 1 | CMT1 · Charcot-Marie-Tooth nöropati tip 1 · Kalıtsal motor ve duyusal nöropati tip 1 · Otozomal dominant demiyelinizan Charcot-Marie-Tooth hastalığı |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0019011 | E | validated | |
| MONDO | 19011 | E | validated | |
| UMLS | C0751036 | E | validated | |
| GARD | 12433 | 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:140453Autosomal dominant hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
Children (7):
- ORPHA:101081Charcot-Marie-Tooth disease type 1A
- ORPHA:101082Charcot-Marie-Tooth disease type 1B
- ORPHA:101083Charcot-Marie-Tooth disease type 1C
- ORPHA:101084Charcot-Marie-Tooth disease type 1D
- ORPHA:90658Charcot-Marie-Tooth disease type 1E
- ORPHA:101085Charcot-Marie-Tooth disease type 1F
- ORPHA:730332Charcot-Marie-Tooth disease type 1J
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 17.5 / 100 000 | Worldwide | Value and class | Validated | 20301384[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/65753
- This record as JSON: /data/d/65753.json