DNAJB2-related Charcot-Marie-Tooth disease type 2
Synonyms: DNAJB2-related CMT2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DNAJB2-related Charcot-Marie-Tooth disease type 2 | DNAJB2-related CMT2 |
| fr | Maladie de Charcot-Marie-Tooth type 2 associée à DNAJB2 | CMT2 associée à DNAJB2 |
| de | Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2, DNAJB2-assoziierte | DNAJB2-assoziierte CMT2 |
| es | Enfermedad de Charcot-Marie-Tooth tipo 2 asociada a DNAJB2 | CMT2 asociada a DNAJB2 |
| it | Malattia di Charcot-Marie-Tooth tipo 2 correlata a DNAJB2 | CMT2 correlata a DNAJB2 |
| nl | DNAJB2-gerelateerde ziekte van Charcot-Marie-Tooth type 2 | DNAJB2-gerelateerde CMT2 |
| pt | Doença Charcot-Marie-Tooth tipo 2 DNAJB2-relacionada | CMT2 DNAJB2-relacionada |
| pl | Choroba Charcota, Mariego i Tootha typu 2T | AR-CMT2T · Autosomalna recesywna aksonalna choroba Charcota, Mariego i Tootha typu 2T · CMT2T · Choroba Charcot-Marie-Tooth typu 2 związana z DNAJB2 |
| cs | DNAJB2-vázaná Charcot-Marie-Toothova nemoc, typ 2 | DNAJB2-related CMT2 · Charcot-Marie-Toothova nemoc, typ 2T · DNAJB2-vázaná CMT2 |
| uk | Хвороба Шарко-Марі-Тута, тип 2, повязана з DNAJB2 | CMT2, повязаний з DNAJB2 |
| zh | DNAJB2相关Charcot-Marie-Tooth病 2型 | DNAJB2相关 CMT2 |
| tr | DNAJB2-ilişkili Charcot-Marie-Tooth hastalığı tip 2 | DNAJB2-ilişkili CMT2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614881 | NTBT | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 14866 | E | validated | |
| UMLS | C5569053 | 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:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNAJB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5228 | ENSG00000135924 | 604139 | 2q35 | DnaJ heat shock protein family (Hsp40) member B2 | 25274842[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25274842[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25274842[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/443950
- This record as JSON: /data/d/443950.json