X-linked Charcot-Marie-Tooth disease type 6
Synonyms: CMT6X · CMTX6
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood
- Status
- active
A type of rare X-linked Charcot-Marie-Tooth disease characterized by slowly progressive, principally axonal, peripheral sensorimotor neuropathy. Patients present with distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus and clawed toes), absent ankle reflexes, gait abnormalities (steppage gait, decreased hand grip strength and dexterity with variable severity. Males are typically more severely affected than carrier females (some reported to remain asymptomatic) and usually present with an earlier age of onset (within the first 13 years of life).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked Charcot-Marie-Tooth disease type 6 | CMT6X · CMTX6 |
| fr | Maladie de Charcot-Marie-Tooth liée à l'X type 6 | = en |
| de | Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 6 | |
| es | Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 6 | = en |
| it | Malattia di Charcot-Marie-Tooth legata all'X, tipo 6 | = en |
| nl | X-gebonden ziekte van Charcot-Marie-Tooth type 6 | = en |
| pt | Doença de Charcot-Marie-Tooth ligada ao X tipo 6 | |
| pl | Choroba Charcota, Mariego i Tootha typu 6 sprzężona z chromosomem X | = en |
| cs | X-vázaná Charcotova-Marieho-Toothova nemoc, typ 6 | CMT6X · CMTX6 · X-vázaná Charcot-Marie-Toothova nemoc, typ 6 |
| uk | Х-зчеплена хвороба Шарко-Марі-Тута, тип 6 | = en |
| zh | X连锁夏科-马里-图斯病6型 | CMTX6 |
| tr | X'e bağlı Charcot-Marie-Tooth hastalığı tip 6 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300905 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0010479 | E | validated | |
| UMLS | C3806702 | 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 |
|---|---|---|---|---|---|---|---|---|
| PDK3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:8811 | ENSG00000067992 | 300906 | Xp22.11 | pyruvate dehydrogenase kinase 3 | 23297365[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 23297365[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23297365[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 2019-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0002936 | Distal sensory impairment | |
| HP:0003482 | EMG: axonal abnormality | |
| HP:0001288 | Gait disturbance | |
| HP:0002378 | Hand tremor | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0001761 | Pes cavus | |
| HP:0007141 | Sensorimotor neuropathy | |
| Frequent (79-30%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0003376 | Steppage gait | |
| HP:0003393 | Thenar muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0001270 | Motor delay | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 26801680[PMID]_23297365[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352675
- This record as JSON: /data/d/352675.json