Familial thrombocytosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Hereditary thrombocythemia Familial thrombocythemia |
| Number of Symptoms | 23 |
| OrphanetNr: | 71493 |
| OMIM Id: |
187950
300331 601977 614521 |
| ICD-10: |
D75.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare thrombotic disorder due to a constitutional platelet anomaly
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0001357) | Plagiocephaly | Frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0001123) | Visual field defect | Occasional [Orphanet] | 30 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Occasional [Orphanet] | 308 / 7739 | |||
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(HPO:0002315) | Headache | Frequent [Orphanet] | 175 / 7739 | |||
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(HPO:0002141) | Gait imbalance | Occasional [Orphanet] | 55 / 7739 | |||
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(HPO:0000763) | Sensory neuropathy | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0100749) | Chest pain | Frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0005268) | Spontaneous abortion | Occasional [Orphanet] | 15 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Frequent [Orphanet] | 337 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0000989) | Pruritus | Frequent [Orphanet] | 111 / 7739 | |||
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(HPO:0002140) | Ischemic stroke | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0002092) | Pulmonary hypertension | Occasional [Orphanet] | 109 / 7739 | |||
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(HPO:0002863) | Myelodysplasia | Occasional [Orphanet] | 30 / 7739 | |||
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(HPO:0001909) | Leukemia | Occasional [Orphanet] | 46 / 7739 | |||
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(HPO:0004936) | Venous thrombosis | Very frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0011875) | Abnormal platelet morphology | Very frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0004420) | Arterial thrombosis | Very frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0001872) | Abnormality of thrombocytes | Very frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0002488) | Acute leukemia | Occasional [Orphanet] | 29 / 7739 | |||
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(HPO:0003010) | Prolonged bleeding time | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0001522) | Death in infancy | Occasional [Orphanet] | 275 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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