X-linked Charcot-Marie-Tooth disease type 1
Synonyms: CMT1X · CMTX1
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood
- Status
- active
A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and adolescence onset in males of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and (often transient) central nervous system involvement have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked Charcot-Marie-Tooth disease type 1 | CMT1X · CMTX1 |
| fr | Maladie de Charcot-Marie-Tooth liée à l'X type 1 | = en |
| de | Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 1 | CMTX1 |
| es | Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 1 | = en |
| it | Malattia di Charcot-Marie-Tooth legata all'X, tipo 1 | = en |
| nl | X-gebonden ziekte van Charcot-Marie-Tooth type 1 | = en |
| pt | Doença de Charcot-Marie-Tooth ligada ao X tipo 1 | |
| pl | Choroba Charcota, Mariego i Tootha typu 1 sprzężona z chromosomem X | = en |
| cs | X-vázaná Charcotova-Marieova-Toothova nemoc, typ 1 | CMT1X · CMTX1 · X-vázaná Charcot-Marie-Toothova nemoc, typ 1 |
| uk | Х-зчеплена хвороба Шарко-Марі-Тута, тип 1 | = en |
| zh | X连锁遗传夏科-马里-图斯病1型 | CMT1 |
| tr | X'e bağlı Charcot-Marie-Tooth hastalığı tip 1 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 302800 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0010549 | E | validated | |
| MeSH | C535919 | E | validated | |
| UMLS | C0393808 | 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 (1):
- ORPHA:64747X-linked Charcot-Marie-Tooth disease
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4283 | ENSG00000169562 | 304040 | Xq13.1 | gap junction protein beta 1 | 20301548[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 20301548[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.
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040129 | Abnormal nerve conduction velocity | |
| HP:0001284 | Areflexia | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0007149 | Distal upper limb amyotrophy | |
| HP:0001761 | Pes cavus | |
| HP:0000763 | Sensory neuropathy | |
| Frequent (79-30%) | ||
| HP:0007328 | Impaired pain sensation | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0001288 | Gait disturbance | |
| HP:0000365 | Hearing impairment | |
| HP:0002808 | Kyphosis | |
| HP:0002463 | Language impairment | |
| HP:0002650 | Scoliosis | |
| HP:0001337 | Tremor | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101075
- This record as JSON: /data/d/101075.json