ORPHA:64746
Autosomal dominant Charcot-Marie-Tooth disease type 2
Synonyms: Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2 · Hereditary motor and sensory neuropathy type 2
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2 | Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2 · Hereditary motor and sensory neuropathy type 2 |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2 | CMT2 · Maladie de Charcot-Marie-Tooth axonale autosomique dominante · Neuropathie sensitivo-motrice héréditaire type 2 |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2 | CMT2 · Charcot-Marie-Tooth-Krankheit, axonale, autosomal-dominante Formen · HMSN2 · Neuropathie, hereditäre motorisch-sensorische, Typ 2 |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 | CMT2 · Enfermedad de Charcot-Marie-Tooth axonal autosómica dominante · Neuropatía sensitivo-motora hereditaria tipo 2 |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2 | Malattia assonale di Charcot-Marie-Tooth, autosomica dominante · Neuropatia sensitivo-motoria ereditaria, tipo 2 |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 | Autosomaal dominante axonale ziekte van Charcot-Marie-Tooth · CMT2 · Erfelijke neurotische en sensorische neuropathie type 2 |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 | CMT2 · Doença de Charcot-Marie-Tooth axonal |
| pl | Autosomalna dominująca choroba Charcot, Marie i Tooth typu 2 | Autosomalna dominująca aksonalna choroba Charcot, Marie i Tooth · CMT2 · Dziedziczna neuropatia ruchowa i czuciowa typu 2 |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2 | CMT2 · Hereditární motorická a sensorická neuropatie, typ 2 · Autozomálně dominantní Charcotova-Marieova-Toothova nemoc · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2 · Autozomálně dominantní Charcot-Marie-Toothova nemoc |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2 | Аутосомно-домінантна аксональна хвороба Шарко-Марі-Тута · CMT2 · Спадкова моторна та сенсорна нейропатія типу 2 |
| zh | 常染色体显性腓骨肌萎缩症2型 | 常染色体显性遗传性轴索型性Charcot-Marie-Tooth病 |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2 | CMT2 · Kalıtsal motor ve duyusal nöropati tip 2 · Otozomal dominant aksonal Charcot-Marie-Tooth hastalığı |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C20.1 | E | specific | validated |
| MONDO | 0018993 | E | validated | |
| MONDO | 18993 | E | validated | |
| UMLS | C5548211 | E | validated | |
| GARD | 12431 | 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:140456Autosomal dominant hereditary axonal motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
Children (27):
- ORPHA:487814Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
- ORPHA:324611Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
- ORPHA:435819Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
- ORPHA:401964Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
- ORPHA:99946Autosomal dominant Charcot-Marie-Tooth disease type 2A1
- ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- ORPHA:99936Autosomal dominant Charcot-Marie-Tooth disease type 2B
- ORPHA:99937Autosomal dominant Charcot-Marie-Tooth disease type 2C
- ORPHA:99938Autosomal dominant Charcot-Marie-Tooth disease type 2D
- ORPHA:521414Autosomal dominant Charcot-Marie-Tooth disease type 2DD
- ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E
- ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2F
- ORPHA:99942Autosomal dominant Charcot-Marie-Tooth disease type 2I
- ORPHA:99943Autosomal dominant Charcot-Marie-Tooth disease type 2J
- ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2K
- ORPHA:99945Autosomal dominant Charcot-Marie-Tooth disease type 2L
- ORPHA:228179Autosomal dominant Charcot-Marie-Tooth disease type 2M
- ORPHA:228174Autosomal dominant Charcot-Marie-Tooth disease type 2N
- ORPHA:284232Autosomal dominant Charcot-Marie-Tooth disease type 2O
- ORPHA:329258Autosomal dominant Charcot-Marie-Tooth disease type 2Q
- ORPHA:397735Autosomal dominant Charcot-Marie-Tooth disease type 2U
- ORPHA:447964Autosomal dominant Charcot-Marie-Tooth disease type 2V
- ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
- ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- ORPHA:300319Charcot-Marie-Tooth disease type 2P
- ORPHA:497757MME-related autosomal dominant Charcot Marie Tooth disease type 2
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | 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.
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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/64746
- This record as JSON: /data/d/64746.json