Details of Disease

General Information of Disease (ID: DISX055E)

Disease Name Platelet-type bleeding disorder 12
Synonyms
prostaglandin-endoperoxide synthase 1 deficiency, platelet; bleeding disorder, platelet-type, 12; BDPLT12; platelet cyclooxygenase 1 deficiency; platelet prostaglandin-endoperoxide synthase 1 deficiency; PGHS1 deficiency; platelet COX1 deficiency
Definition
An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.
Disease Hierarchy
DIS1DL2M: Inherited blood coagulation disorder
DISIUNXT: Inherited bleeding disorder, platelet-type
DISX055E: Platelet-type bleeding disorder 12
Disease Identifiers
MONDO ID
MONDO_0011588
MESH ID
C567786
UMLS CUI
C2751535
OMIM ID
605735
MedGen ID
414043

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PTGS1 TT8NGED moderate Biomarker [1]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PTGS1 DE073H6 Limited Semidominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTGS1 OTHCRLEC Limited Semidominant [2]
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References

1 Congenital deficiency of thromboxane and prostacyclin.Lancet. 1980 Apr 26;1(8174):898-901. doi: 10.1016/s0140-6736(80)90837-5.
2 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.