THROMBOCYTHEMIA 2

General Information (adopted from Orphanet):

Synonyms, Signs: THCYT2
Number of Symptoms 5
OrphanetNr:
OMIM Id: 601977
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
(HPO:0001894) Thrombocytosis 16 / 7739
2
(OMIM) Thrombocythemia 3 / 7739
3
(HPO:0001428) Somatic mutation 100 / 7739
4
(OMIM) Increased megakaryocytes in bone marrow 2 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ding et al. (2004) reported a 3-generation Japanese family in which 8 of 16 members had thrombocythemia, with a platelet count more than 600 x 109/L. Bone marrow biopsies were normocellular and normoplastic, except for increased megakaryocytes.
Molecular genetics OMIM - Germline Mutation in the MPL Gene

In affected members of a Japanese family with autosomal dominant thrombocythemia, Ding et al. (2004) identified a heterozygous activating mutation in the MPL gene (159530.0010).

Moliterno et ...