Details of Disease

General Information of Disease (ID: DISBLVLV)

Disease Name Thrombocytopenia 2
Synonyms thrombocytopenia, autosomal dominant, 2; thrombocytopenia autosomal dominant 2; THC2; thrombocytopenia type 2; thrombocytopenia 2
Definition
An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.
Disease Hierarchy
DISANU9Q: Inherited thrombocytopenia
DISBLVLV: Thrombocytopenia 2
Disease Identifiers
MONDO ID
MONDO_0008555
MESH ID
C536519
UMLS CUI
C1861185
OMIM ID
188000
MedGen ID
349976

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MASTL OTQ7YKK5 Limited Genetic Variation [1]
MYH9 OT94Z706 Strong Genetic Variation [2]
ANKRD26 OT2ENKKV Definitive Autosomal dominant [3]
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References

1 Thrombocytopenia-associated mutations in Ser/Thr kinase MASTL deregulate actin cytoskeletal dynamics in platelets.J Clin Invest. 2018 Dec 3;128(12):5351-5367. doi: 10.1172/JCI121876. Epub 2018 Oct 29.
2 MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.Hamostaseologie. 2019 Feb;39(1):87-94. doi: 10.1055/s-0038-1645840. Epub 2018 Jul 11.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.