X-linked Charcot-Marie-Tooth disease type 4
Synonyms: CMT4X · CMTX4 · Cowchock syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare genetic, axonal, peripheral sensorimotor neuropathy, characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked Charcot-Marie-Tooth disease type 4 | CMT4X · CMTX4 · Cowchock syndrome |
| fr | Maladie de Charcot-Marie-Tooth liée à l'X type 4 | CMT4X · CMTX4 · Syndrome de Cowchock |
| de | Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 4 | CMTX4 · Cowchock-Syndrom |
| es | Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 4 | CMT4X · CMTX4 · Síndrome de Cowchock |
| it | Malattia di Charcot-Marie-Tooth legata all'X, tipo 4 | CMT4X · CMTX4 · Sindrome di Cowchock |
| nl | X-gebonden ziekte van Charcot-Marie-Tooth type 4 | CMT4X · CMTX4 · Syndroom van Cowchock |
| pt | Doença de Charcot-Marie-Tooth, ligada ao X, tipo 4 | |
| pl | Choroba Charcota, Mariego i Tootha typu 4 sprzężona z chromosomem X | CMT4X · CMTX4 · Zespół Cowchocka |
| cs | X-vázaná Charcotova-Marieova-Toothova nemoc, typ 4 | CMT4X · CMTX4 · Cowchockové syndrom · X-vázaná Charcot-Marie-Toothova nemoc, typ 4 |
| uk | Х-зчеплена хвороба Шарко-Марі-Тута, тип 4 | CMT4X · CMTX4 · Синдром коровячого хвоста |
| zh | X连锁遗传夏科-马里-图斯病4型 | Cowchock综合征 |
| tr | X'e bağlı Charcot-Marie-Tooth hastalığı tip 4 | CMT4X · CMTX4 · Cowchock sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 310490 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0010689 | E | validated | |
| MeSH | C536450 | E | validated | |
| UMLS | C0795910 | 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 |
|---|---|---|---|---|---|---|---|---|
| AIFM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8768 | ENSG00000156709 | 300169 | Xq26.1 | apoptosis inducing factor mitochondria associated 1 | 23217327[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 23217327[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23217327[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:0001284 | Areflexia | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001761 | Pes cavus | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0000763 | Sensory neuropathy | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0007328 | Impaired pain sensation | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0002360 | Sleep abnormality | |
| HP:0001337 | Tremor | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101078
- This record as JSON: /data/d/101078.json