ORPHA:71493
Familial thrombocytosis
Synonyms: Familial thrombocythemia · Hereditary thrombocythemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked recessive
- Age of onset
- Childhood
- Status
- active
Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial thrombocytosis | Familial thrombocythemia · Hereditary thrombocythemia |
| fr | Thrombocytose familiale | Thrombocytémie familiale · Thrombocytémie héréditaire |
| de | Thrombozytose, familiäre | Thrombozythämie, hereditäre |
| es | Trombocitosis familiar | Trombocitopenia familiar · Trombocitopenia hereditaria |
| it | Trombocitosi familiare | Trombocitemia ereditaria · Trombocitemia familiare |
| nl | Familiale trombocytose | Erfelijke trombocytemie · Familiale trombocytemie |
| pt | Trombocitose familiar | Trombocitemia hereditária |
| pl | Nadpłytkowość rodzinna | Dziedziczna trombocytemia · Trombocytopenia rodzinna |
| cs | Familiární trombocytóza | Familiární trombocytémie · Hereditární trombocytémie |
| uk | Сімейний тромбоцитоз | Сімейна тромбоцитемія · Спадкова тромбоцитемія |
| zh | 家族性血小板增多症 | 遗传性血小板增多症 |
| tr | Ailesel trombositoz | Ailesel trombositemi · Kalıtsal trombositemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 187950 | NTBT | validated | |
| OMIM | 601977 | NTBT | validated | |
| OMIM | 614521 | NTBT | validated | |
| OMIM | 620478 | BTNT | validated | |
| ICD-10 | D68.8 | NTBT | attributed | validated |
| ICD-11 | 3B63.0 | E | specific | validated |
| MONDO | 0019111 | E | validated | |
| UMLS | C4303761 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:248401Rare thrombotic disorder due to a constitutional platelet anomaly
rare genetic diseases; rare hematological diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| JAK2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6192 | ENSG00000096968 | 147796 | 9p24.1 | Janus kinase 2 | 22397670[PMID] |
| THPO | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11795 | ENSG00000090534 | 600044 | 3q27.1 | thrombopoietin | |
| MPL | Disease-causing germline mutation(s) in | Assessed | HGNC:7217 | ENSG00000117400 | 159530 | 1p34.2 | MPL proto-oncogene, thrombopoietin receptor |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Not yet validated | 23736217[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.
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HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0004420 | Arterial thrombosis | |
| HP:0001894 | Thrombocytosis | |
| HP:0004936 | Venous thrombosis | |
| Frequent (79-30%) | ||
| HP:0002637 | Cerebral ischemia | |
| HP:0100749 | Chest pain | |
| HP:0002315 | Headache | |
| HP:0000975 | Hyperhidrosis | |
| HP:0003401 | Paresthesia | |
| HP:0004950 | Peripheral arterial stenosis | |
| HP:0000989 | Pruritus | |
| HP:0001744 | Splenomegaly | |
| HP:0002326 | Transient ischemic attack | |
| Occasional (29-5%) | ||
| HP:0004808 | Acute myeloid leukemia | |
| HP:0005506 | Chronic myelogenous leukemia | |
| HP:0001260 | Dysarthria | |
| HP:0002863 | Myelodysplasia | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001250 | Seizure | |
| HP:0005268 | Spontaneous abortion | |
| HP:0001279 | Syncope | |
| HP:0002321 | Vertigo | |
| HP:0001123 | Visual field defect | |
| HP:0001824 | Weight loss | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 11155408[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71493
- This record as JSON: /data/d/71493.json