Autosomal dominant Charcot-Marie-Tooth disease type 2O
Synonyms: CMT2O
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2O | CMT2O |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2O | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2O | = en |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2O | = en |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2O | = en |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2O | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2O | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2O | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2O | CMT2O · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2O |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2O | = en |
| zh | 常染色体显性遗传性Charcot-Marie-Tooth病2O型 | = en |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2O | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614228 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0013644 | E | validated | |
| UMLS | C3280220 | 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:64746Autosomal dominant Charcot-Marie-Tooth disease type 2
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYNC1H1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2961 | ENSG00000197102 | 600112 | 14q32.31 | dynein cytoplasmic 1 heavy chain 1 | 20301462[PMID]_21820100[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | 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/284232
- This record as JSON: /data/d/284232.json