Details of Disease

General Information of Disease (ID: DISQ9PV4)

Disease Name Platelet-type bleeding disorder 18
Synonyms
bleeding disorder, platelet-type, 18; RASGRP2 inherited bleeding disorder, platelet-type; inherited bleeding disorder, platelet-type caused by mutation in RASGRP2; BDPLT18; platelet-type bleeding disorder 18; bleeding disorder due to CalDAG-GEFI deficiency; bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Definition
Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
Disease Hierarchy
DIS1DL2M: Inherited blood coagulation disorder
DISIUNXT: Inherited bleeding disorder, platelet-type
DISQ9PV4: Platelet-type bleeding disorder 18
Disease Identifiers
MONDO ID
MONDO_0014386
UMLS CUI
C4014584
OMIM ID
615888
MedGen ID
863021
Orphanet ID
420566

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
RASGRP2 OTABVLVQ Definitive Autosomal recessive [1]
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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.