Details of Disease

General Information of Disease (ID: DISP7RXI)

Disease Name Hereditary thrombophilia due to congenital protein S deficiency
Synonyms
severe hereditary thrombophilia due to congenital protein S deficiency; autosomal recessive thrombophilia due to congenital protein S deficiency; hereditary thrombophilia due to congenital protein S deficiency
Definition Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.
Disease Hierarchy
DISORLOT: Protein S deficiency
DISFG8KS: Inherited thrombophilia
DISP7RXI: Hereditary thrombophilia due to congenital protein S deficiency
Disease Identifiers
MONDO ID
MONDO_0019144
UMLS CUI
C2584611
MedGen ID
748876
Orphanet ID
743
SNOMED CT ID
439702007

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
PROS1 OTXQWNOI Definitive Semidominant [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.