Charcot-Marie-Tooth disease type 1D
Synonyms: CMT1D
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the <i>EGR2</i> gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 1D | CMT1D |
| fr | Maladie de Charcot-Marie-Tooth type 1D | = en |
| de | Charcot-Marie-Tooth-Krankheit Typ 1D | = en |
| es | Enfermedad de Charcot-Marie-Tooth tipo 1D | |
| it | Malattia di Charcot-Marie-Tooth, tipo 1D | = en |
| nl | Ziekte van Charcot-Marie-Tooth type 1D | = en |
| pt | Doença de Charcot-Marie-Tooth tipo 1D | |
| pl | Choroba Charcota, Mariego i Tootha typu 1D | = en |
| cs | Charcotova-Marieova-Toothova nemoc, typ 1D | CMT1D · Charcot-Marie-Toothova nemoc, typ 1D |
| uk | Хвороба Шарко-Марі-Тута, тип 1D | = en |
| zh | 夏科-马里-图斯病1D型 | = en |
| tr | Charcot-Marie-Tooth hastalığı tip 1D | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607678 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0011890 | E | validated | |
| MeSH | C537985 | E | validated | |
| UMLS | C1843247 | 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:65753Charcot-Marie-Tooth disease type 1
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EGR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3239 | ENSG00000122877 | 129010 | 10q21.3 | early growth response 2 | 20301384[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101084
- This record as JSON: /data/d/101084.json