X-linked Charcot-Marie-Tooth disease
Synonyms: CMTX · X-linked hereditary motor and sensory neuropathy
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- X-linked dominant, X-linked recessive
- Status
- active
A group of rare genetic peripheral neuropathies characterized by slowly progressive sensory-motor involvement leading to muscle weakness, atrophy and sensory loss, mainly affecting the distal limbs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked Charcot-Marie-Tooth disease | CMTX · X-linked hereditary motor and sensory neuropathy |
| fr | Maladie de Charcot-Marie-Tooth liée à l'X | CMTX · Neuropathie sensitivo-motrice héréditaire liée à l'X |
| de | X-chromosomale Charcot-Marie-Tooth-Krankheit | CMTX · Neuropathie, hereditäre motorisch-sensorische, X-chromosomale |
| es | Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X | CMTX · Neuropatía hereditaria sensitivo-motora ligada al cromosoma X |
| it | Malattia di Charcot-Marie-Tooth legata all'X | CMTX |
| nl | X-gebonden ziekte van Charcot-Marie-Tooth | CMTX · X-gebonden erfelijke motorische en sensorische neuropathie |
| pt | Charcot-Marie-Tooth ligada ao X | CMTX |
| pl | Choroba Charcota, Mariego i Tootha sprzężona z chromosomem X | CMTX · Dziedziczna neuropatia ruchowa i czuciowa sprzęzona z chromosomem X |
| cs | X-vázaná Charcotova-Marieova-Toothova nemoc | CMTX · X-vázaná Charcot-Marie-Toothova nemoc |
| uk | Х-зчеплена хвороба Шарко-Марі-Тута | CMTX · Х-зчеплена спадкова моторна та сенсорна нейропатія |
| zh | X连锁腓骨肌萎缩症 | X-连锁遗传性运动感觉神经病 |
| tr | X'e bağlı Charcot-Marie-Tooth hastalığı | CMTX · X'e bağlı kalıtsal motor ve duyusal nöropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0018994 | E | validated | |
| MONDO | 18994 | E | validated | |
| UMLS | C4551551 | E | validated | |
| GARD | 12444 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:166Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Children (6):
- ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1
- ORPHA:101076X-linked Charcot-Marie-Tooth disease type 2
- ORPHA:101077X-linked Charcot-Marie-Tooth disease type 3
- ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4
- ORPHA:99014X-linked Charcot-Marie-Tooth disease type 5
- ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6
Codes that Orphanet moved or referred to this one:
- ORPHA:140462OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.6 / 100 000 | Europe | Value and class | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64747
- This record as JSON: /data/d/64747.json