THPH3
MCID: THR067
MIFTS: 29
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Thrombophilia Due to Protein C Deficiency, Autosomal Dominant (THPH3)
Categories:
Blood diseases, Genetic diseases
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MalaCards integrated aliases for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
vast majority of heterozygotes are asymptomatic protein c deficiency is found in 3-4% of patients with venous thromboembolism acquired protein c deficiency seen in liver disease, dic, and following surgery see also autosomal recessive form HPO:31
thrombophilia due to protein c deficiency, autosomal dominant:
Inheritance autosomal dominant inheritance Classifications: |
OMIM® :
57
Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984).
Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C. (176860) (Updated 05-Mar-2021)
MalaCards based summary : Thrombophilia Due to Protein C Deficiency, Autosomal Dominant, is also known as thrombophilia, hereditary, due to protein c deficiency, autosomal dominant. An important gene associated with Thrombophilia Due to Protein C Deficiency, Autosomal Dominant is PROC (Protein C, Inactivator Of Coagulation Factors Va And VIIIa). Affiliated tissues include liver, eye and skin, and related phenotypes are abnormality of the eye and abnormality of the nervous system Disease Ontology : 12 A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has material basis in heterozygous mutation in PROC on chromosome 2q14.3. UniProtKB/Swiss-Prot : 73 Thrombophilia due to protein C deficiency, autosomal dominant: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency. |
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Human phenotypes related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:176860 (Updated 05-Mar-2021) |
Cochrane evidence based reviews: thrombophilia, hereditary, due to protein c deficiency, autosomal dominant |
MalaCards organs/tissues related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:40
Liver,
Eye,
Skin
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Articles related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:(show all 48)
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ClinVar genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:6 (show top 50) (show all 115)
UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:73 (show all 28) |
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for disease gene expression data for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant.
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