Hereditary thrombocytopenia with early-onset myelofibrosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary thrombocytopenia with early-onset myelofibrosis | |
| fr | Thrombocytopénie héréditaire avec myélofibrose à début précoce | |
| de | Hereditäre Thrombozytopenie mit früh-beginnender Myelofibrose | |
| es | Trombocitopenia hereditaria con mielofibrosis de inicio precoz | |
| it | Trombocitopenia ereditaria con mielofibrosi ad esordio precoce | |
| nl | Erfelijke trombocytopenie met myelofibrose met vroege aanvang | |
| pt | Trombocitopenia hereditária com mielofibrose de início precoce | |
| pl | Dziedziczna małopłytkowość z mielofibrozą o wczesnym początku | |
| cs | Hereditární trombocytopénie s časnou myelofibrózou | |
| uk | Спадкова тромбоцитопенія з раннім мієлофіброзом | |
| zh | 遗传性血小板减少伴早发性骨髓纤维化 | |
| tr | Erken başlangıçlı miyelofibroz ile seyreden kalıtsal trombositopeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616937 | E | validated | |
| ICD-10 | D69.4 | NTBT | attributed | validated |
| ICD-11 | 3B64.01 | NTBT | attributed | validated |
| MONDO | 0014837 | E | validated | |
| UMLS | C4310789 | 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 (2):
- ORPHA:98274Myeloproliferative neoplasm
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SRC | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11283 | ENSG00000197122 | 190090 | 20q11.23 | SRC proto-oncogene, non-receptor tyrosine kinase | 26936507[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 26936507[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26936507[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/480851
- This record as JSON: /data/d/480851.json