Details of Disease | DrugMAP

General Information of Disease (ID: DISS1YOK)

Disease Name	Macrothrombocytopenia, isolated, 1, autosomal dominant
Synonyms	autosomal dominant macrothrombocytopenia TUBB1-related; autosomal dominant macrothrombocytopenia caused by mutation in TUBB1; TUBB1 autosomal dominant macrothrombocytopenia; macrothrombocytopenia, autosomal dominant, TUBB1-related; MACTHC1
Definition	Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.
Disease Hierarchy	DISUTMSW: Autosomal dominant macrothrombocytopenia DISL5G2O: Macrothrombocytopenia, isolated DISS1YOK: Macrothrombocytopenia, isolated, 1, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0800047 UMLS CUI C5676892 OMIM ID 613112 MedGen ID 1811721

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TUBB1	OTEVMMYH	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TUBB1	TT63KYR	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	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.