ORPHA:166
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
Synonyms: CMT/HMSN · Charcot-Marie-Tooth hereditary neuropathy
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive
- 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 | Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy | CMT/HMSN · Charcot-Marie-Tooth hereditary neuropathy |
| fr | Maladie de Charcot-Marie-Tooth/Neuropathie sensitivo-motrice héréditaire | CMT/HMSN · Neuropathie héréditaire de Charcot-Marie-Tooth |
| de | Charcot-Marie-Tooth-Krankheit/Hereditäre motorische und sensorische Neuropathie | CMT/HMSN · Hereditäre Neuropathie Charcot-Marie-Tooth |
| es | Enfermedad de Charcot-Marie-Tooth/Neuropatía sensitivo-motora hereditaria | CMT/HMSN · Neuropatía hereditaria de Charcot-Marie-Tooth |
| it | Malattia di Charcot-Marie-Tooth | CMT · Neuropatia ereditaria di Charcot-Marie-Tooth |
| nl | Ziekte van Charcot-Marie-Tooth/Erfelijke motorische en sensorische neuropathie | CMT/HMSN · Charcot-Marie-Tooth erfelijke neuropathie |
| pt | Doença de Charcot-Marie-Tooth/neuropatia sensitiva e motora hereditária | |
| pl | Choroba Charcota, Mariego i Tootha | CMT · Dziedziczna neuropatia Charcota, Mariego i Tootha |
| cs | Charcotova-Marieova-Toothova nemoc | CMT · Charcotova-Marieova-Toothova hereditární neuropatie · Hereditární motorická a senzitivní neuropatie (HMSN) · Charcot-Marie-Toothova nemoc · Charcot-Marie-Toothova hereditární neuropatie |
| uk | Хвороба Шарко-Марі-Тута / Спадкова моторна та сенсорна нейропатія | Спадкова невропатія Шарко-Марі-Тута · CMT/HMSN |
| zh | 腓骨肌萎缩症/遗传性运动感觉性神经病 | Charcot-Marie-Tooth遗传性神经病 |
| tr | Charcot-Marie-Tooth hastalığı / Kalıtsal motor ve duyusal nöropati | CMT / HMSN · Charcot-Marie-Tooth kalıtsal nöropati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C20 | E | specific | validated |
| MONDO | 15626 | E | validated | |
| MeSH | D002607 | E | validated | |
| UMLS | C0007959 | E | validated | |
| GARD | 6034 | 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:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases
Children (6):
- ORPHA:476109Axonal hereditary motor and sensory neuropathy
- ORPHA:476116Demyelinating hereditary motor and sensory neuropathy
- ORPHA:2926Digital extensor muscle aplasia-polyneuropathy
- ORPHA:476123Intermediate Charcot-Marie-Tooth disease
- ORPHA:431320Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
- ORPHA:64747X-linked Charcot-Marie-Tooth disease
Codes that Orphanet moved or referred to this one:
- ORPHA:140450OBSOLETE: Hereditary motor and sensory neuropathy referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
11 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 25 / 100 000 | Europe | Value and class | Not yet validated | 21820100[PMID]_20301532[PMID]_ ORPHANET |
| Point prevalence | 1-5 / 10 000 | 15.95 / 100 000 | United Kingdom | Value and class | Not yet validated | 21984771[PMID]_8026104[PMID]_ ORPHANET |
| Point prevalence | 6-9 / 10 000 | 61 / 100 000 | Norway | Value and class | Not yet validated | 20482598[PMID]_4430158[PMID]_ ORPHANET |
| Point prevalence | 1-5 / 10 000 | 28.2 / 100 000 | Spain | Value and class | Validated | 3472423[PMID] |
| Point prevalence | 1-5 / 10 000 | 17.5 / 100 000 | Italy | Value and class | Validated | 12207152[PMID] |
| Point prevalence | 1-5 / 10 000 | 19.55 / 100 000 | Sweden | Value and class | Not yet validated | 6576612[PMID]_8333247[PMID]_ ORPHANET |
| Point prevalence | 1-9 / 100 000 | 6.1 / 100 000 | Denmark | Value and class | Validated | 2096315[PMID] |
| Point prevalence | 1-5 / 10 000 | 12 / 100 000 | Iceland | Value and class | Validated | 19893324[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.8 / 100 000 | Japan | Value and class | Validated | 12207153[PMID] |
| Point prevalence | 1-5 / 10 000 | 16 / 100 000 | Cyprus | Value and class | Validated | 20571287[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.7 / 100 000 | Serbia | Value and class | Validated | 21546779[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/166
- This record as JSON: /data/d/166.json