THROMBOCYTHEMIA 1

General Information (adopted from Orphanet):

Synonyms, Signs: THCYT1
THROMBOCYTOSIS 1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 187950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(OMIM) Thrombotic episodes 1 / 7739
2
(OMIM) Increased bone marrow megakaryocytes 1 / 7739
3
(OMIM) Hemorrhagic episodes 1 / 7739
4
(OMIM) Thrombocythemia 3 / 7739
5
(OMIM) Increased serum thrombopoietin may occur 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998). ...
Clinical Description OMIM - Early Descriptions

Fickers and Speck (1974) reported familial occurrence of thrombocythemia, with transition into blastic crisis in some patients.

Slee et al. (1981) described a family in which a form of myeloproliferative disease ...

Molecular genetics OMIM In a 4-generation Dutch kindred with essential thrombocythemia originally reported by Schlemper et al. (1994), Wiestner et al. (1998) identified a heterozygous germline mutation in the THPO gene (600044.0001).

In affected members of the Japanese family ...