Autosomal dominant Charcot-Marie-Tooth disease type 2L
Synonyms: CMT2L
- 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. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2L | CMT2L |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2L | = en |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2L | = en |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2L | |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2L | = en |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2L | = en |
| pt | Doença de Charcot-Marie-Tooth autossómica dominante tipo 2L | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2L | = en |
| cs | Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2L | CMT2L · Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2L |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2L | = en |
| zh | 常染色体显性遗传腓骨肌萎缩症2L型 | = en |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2L | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608673 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.1 | NTBT | index | validated |
| MONDO | 0012096 | E | validated | |
| UMLS | C4304673 | 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 |
|---|---|---|---|---|---|---|---|---|
| HSPB8 | Disease-causing germline mutation(s) in | Assessed | HGNC:30171 | ENSG00000152137 | 608014 | 12q24.23 | heat shock protein family B (small) member 8 | 20301462[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 15021985[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15021985[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/99945
- This record as JSON: /data/d/99945.json