ORPHA:726047
Congenital amegakaryocytic thrombocytopenia-MPL
Synonyms: CAMT-MPL · Congenital amegakaryocytic thrombocytopenia due to MPL · Congenital amegakaryocytic thrombocytopenia-MPL protooncogene, thrombopoietin receptor
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital amegakaryocytic thrombocytopenia-MPL | CAMT-MPL · Congenital amegakaryocytic thrombocytopenia due to MPL · Congenital amegakaryocytic thrombocytopenia-MPL protooncogene, thrombopoietin receptor |
| fr | Thrombocytopénie amégacaryocytaire congénitale-MPL | CAMT-MPL · Thrombocytopénie amégacaryocytaire congénitale par déficit en protéine MPL · Thrombocytopénie amégacaryocytaire congénitale par déficit en protéine MPL proto-oncogen, thrombopoietin receptor |
| de | Kongenitale amegakaryozytäre Thrombozytopenie, MPL-assoziierte | CAMT1 · Angeborene amegakaryozytäre Thrombozytopenie durch MPL-Defizienz · Thrombozytopenie, amegakaryozytäre, kongenitale, Typ 1 |
| es | Trombocitopenia amegacariocítica congénita asociada al gen MPL | CAMT-MPL · Trombocitopenia amegacariocítica congénita por protooncogén MPL, receptor de trombopoyetina |
| it | Trombocitopenia amegacariocitica congenita-MPL | CAMT-MPL · Trombocitopenia amegacariocitica congenita da MPL · Trombocitopenia amegacariocitica congenita-protooncogene MPL, recettore della trombopoietina |
| nl | Congenital amegakaryocytic thrombocytopenia-MPL | CAMT-MPL · Congenitale amegakaryocytaire trombocytopenie door MPL · Congenitale amegakaryocytaire trombocytopenie-MPL-proto-oncogen, trombopoëtinereceptor |
| pt | Congenital amegakaryocytic thrombocytopenia-MPL | |
| pl | Congenital amegakaryocytic thrombocytopenia-MPL | = en |
| cs | Congenital amegakaryocytic thrombocytopenia-MPL | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604498 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:3319Congenital amegakaryocytic thrombocytopenia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MPL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7217 | ENSG00000117400 | 159530 | 1p34.2 | MPL proto-oncogene, thrombopoietin receptor | 19302922[PMID]_24438083[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/726047
- This record as JSON: /data/d/726047.json