THROMBOCYTOPENIA 2

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2
THC2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 188000
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) Increased plasma thrombopoietin (TPO) 1 / 7739
2
(OMIM) Thrombocytopenia (33-120 x 10(9)/L) 2 / 7739
3
(OMIM) Normal platelet size 2 / 7739
4
(OMIM) Increased total white blood count 1 / 7739
5
(OMIM) Mild-moderate bruisability 1 / 7739
6
(OMIM) Increased megakaryocyte colony forming units (CFU-MK) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Thrombocytopenia-2 is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of ...
Clinical Description OMIM - Early Descriptions of Autosomal Dominant Thrombocytopenia

Seip (1963) described a mother and her 2 sons with thrombocytopenia. Platelet antibodies were not demonstrated. One son had bilateral aplasia of the twelfth rib and mild right hydronephrosis. ...

Molecular genetics OMIM Although Gandhi et al. (2003) identified a heterozygous missense variant in the MASTL gene (E167D; 608221.0001) in affected members of the family reported by Drachman et al. (2000), and Punzo et al. (2010) identified a heterozygous variant in ...