ORPHA:99938
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Synonyms: CMT2D
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2D | CMT2D |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2D | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2D | = en |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2D | = en |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2D | = en |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2D | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2D | = en |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2D | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2D | CMT2D · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2D |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2D | = en |
| zh | 常染色体显性遗传腓骨肌萎缩症2D型 | = en |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2D | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601472 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0011091 | E | validated | |
| MeSH | C537993 | E | validated | |
| UMLS | C1832274 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4162 | ENSG00000106105 | 600287 | 7p14.3 | glycyl-tRNA synthetase 1 | 20301462[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 44 cases | Worldwide | Case(s) | Validated | 8872480[PMID]_10732809[PMID]_9879677[PMID]_19329989[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8872480[PMID]_10732809[PMID]_9879677[PMID]_19329989[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99938
- This record as JSON: /data/d/99938.json