Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Synonyms: CMTDIC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant intermediate Charcot-Marie-Tooth disease type C | CMTDIC |
| fr | Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, intermediäre, Typ C | = en |
| es | Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante tipo C | |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante intermedia, tipo C | = en |
| nl | Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type C | = en |
| pt | Doença de Charcot-Marie-Tooth intermédia autossómica dominante tipo C | |
| pl | Autosomalna dominująca polineuropatia Charcota, Mariego i Tootha typu C | = en |
| cs | Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc, typ C | CMTDIC · Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc, typ C |
| uk | Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута, тип С | = en |
| zh | 常染色体显性遗传中间型夏科-马里-图斯病C型 | = en |
| tr | Otozomal dominant orta seviyeli Charcot-Marie-Tooth hastalığı tip C | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608323 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.2 | NTBT | index | validated |
| MONDO | 0012012 | E | validated | |
| MeSH | C564257 | E | validated | |
| UMLS | C1842237 | 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:90114Autosomal dominant intermediate Charcot-Marie-Tooth disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| YARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12840 | ENSG00000134684 | 603623 | 1p35.1 | tyrosyl-tRNA synthetase 1 | 16429158[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16429158[PMID]_24354524[PMID] |
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 16429158[PMID]_24354524[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100045
- This record as JSON: /data/d/100045.json