ORPHA:90114
Autosomal dominant intermediate Charcot-Marie-Tooth disease
Synonyms: CMTDI
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- 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 intermediate Charcot-Marie-Tooth disease | CMTDI |
| fr | Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante | = en |
| de | Charcot-Marie-Tooth-Krankheit, dominant-intermediäre | DI-CMT |
| es | Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante | |
| it | Malattia di Charcot-Marie-Tooth, forma dominante intermedia | DI-CMT |
| nl | Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth | DI-CMT |
| pt | Doença de Charcot-Marie-Tooth intermédia autossómicadominante | |
| pl | Autosomalna dominująca pośrednia choroba Charcota, Mariego i Tootha | = en |
| cs | Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc | CMTDI · Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc |
| uk | Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута | = en |
| zh | 常染色体显性遗传中间型腓骨肌萎缩症 | = en |
| tr | Otozomal dominant orta dereceli Charcot-Marie-Tooth hastalığı | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C20.2 | NTBT | index | validated |
| MONDO | 0019548 | E | validated | |
| UMLS | C5680178 | E | validated | |
| GARD | 12436 | 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:476123Intermediate Charcot-Marie-Tooth disease
rare genetic diseases; rare neurological diseases
Children (7):
- ORPHA:100043Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
- ORPHA:100044Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
- ORPHA:100045Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
- ORPHA:100046Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
- ORPHA:93114Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
- ORPHA:352670Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
- ORPHA:324585Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
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 | Unknown | — | Worldwide | Class only | 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.
6
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/90114
- This record as JSON: /data/d/90114.json