THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
PROC DEFICIENCY, AUTOSOMAL DOMINANT PROTEIN C DEFICIENCY, ACQUIRED, INCLUDED
THPH3
Number of Symptoms 6
OrphanetNr:
OMIM Id: 176860
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001038) Warfarin-induced skin necrosis 3 / 7739
2
(HPO:0002625) Deep venous thrombosis 10 / 7739
3
(HPO:0005305) Cerebral venous thrombosis 7 / 7739
4
(HPO:0002638) Superficial thrombophlebitis 6 / 7739
5
(HPO:0002204) Pulmonary embolism 26 / 7739
6
(OMIM) Plasma protein C deficiency 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Griffin et al. (1981) reported a 22-year-old Caucasian man with recurrent thrombophlebitis complicated by pulmonary embolism. His 56-year-old father had thrombophlebitis with pulmonary embolism following a minor leg injury at age 24, a cerebrovascular accident at age 43, ...
Genotype-Phenotype Correlations OMIM Koeleman et al. (1994) found that heterozygous carriers of both the factor V Leiden mutation (R506Q; 612309.0001) and a mutation in the protein C gene were at higher risk of thrombosis compared to patients with either defect alone. ...
Molecular genetics OMIM In affected members of 2 unrelated families with protein C deficiency, Romeo et al. (1987) identified 2 different heterozygous mutations in the PROC gene (612283.0001 and 612283.0002), respectively. Affected individuals showed 50% reduction of both enzymatic and antigen ...
Population genetics OMIM Rocchi et al. (1986) quoted a frequency of 1/5000 for thrombophilia due to protein C deficiency in the Netherlands.