Autosomal dominant Charcot-Marie-Tooth disease type 2DD
Synonyms: ATP1A1-related CMT2 · ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 · CMT2DD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant Charcot-Marie-Tooth disease type 2DD | ATP1A1-related CMT2 · ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 · CMT2DD |
| fr | Maladie de Charcot-Marie-Tooth autosomique dominante type 2DD | CMT2 associée à ATP1A1 · CMT2DD · Maladie de Charcot-Marie-Tooth autosomique dominante type 2 associée à ATP1A1 |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2DD | ATP1A1-assoziierte CMT2 · ATP1A1-assoziierte autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2 · CMT2DD |
| es | Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2DD | CMT2 asociada a ATP1A1 · CMT2DD · Enfermedad de Charcot-Marie-Tooth autosómica dominante asociada a ATP1A1 tipo 2 |
| it | Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2DD | CMT2 ATP1A1-correlata · CMT2DD · Malattia di Charcot-Marie-Tooth tipo 2 autosomica dominante ATP1A1-correlata |
| nl | Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2DD | ATP1A1-gerelateerde CMT2 · ATP1A1-gerelateerde autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 · CMT2DD |
| pt | Doença Charcot-Marie-Tooth autossómica dominante tipo 2DD | |
| pl | Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2DD | CMT2DD · ATP1A1-związana z CMT2 · Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 związana z ATP1A1 |
| cs | Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2DD | CMT2DD · ATP1A1-vázaná CMT2 · ATP1A1-vázaná autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2 |
| uk | Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2DD | Хвороба Шарко-Марі-Тута, тип 2, зчеплена з АТФ1А1, аутосомно-домінантна хвороба Шарко-Марі-Тута · CMT2, повязаний з ATP1A1 · CMT2DD |
| zh | 常染色体显性遗传性夏科-马里-图斯病2DD型 | ATP1A1相关常染色体显性夏科-马里-图斯病2型 |
| tr | Otozomal dominant Charcot-Marie-Tooth hastalığı tipi 2DD | CMT2DD · ATP1A1-ilişkili CMT2 · ATP1A1 ilişkili otozomal dominant Charcot-Marie-Tooth hastalığı tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618036 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0054833 | E | validated | |
| UMLS | C4747974 | 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 |
|---|---|---|---|---|---|---|---|---|
| ATP1A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:799 | ENSG00000163399 | 182310 | 1p13.1 | ATPase Na+/K+ transporting subunit alpha 1 | 29499166[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 51 cases | Worldwide | Case(s) | Validated | 29499166[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29499166[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/521414
- This record as JSON: /data/d/521414.json