Protein S acquired deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: THPH5
Number of Symptoms 12
OrphanetNr: 26349
OMIM Id: 612336
ICD-10: D68.8
UMLs: C2363755
MeSH:
MedDRA: 10068370
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: Rare thrombotic disorder due to an acquired coagulation factors defect
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000979) Purpura 27 / 7739
2
(HPO:0001038) Warfarin-induced skin necrosis 3 / 7739
3
(HPO:0005305) Cerebral venous thrombosis 7 / 7739
4
(HPO:0100724) Hypercoagulability 15 / 7739
5
(HPO:0004850) Recurrent deep vein thrombosis 4 / 7739
6
(HPO:0004855) Reduced protein S activity 2 / 7739
7
(HPO:0004420) Arterial thrombosis 20 / 7739
8
(HPO:0002638) Superficial thrombophlebitis 6 / 7739
9
(HPO:0002204) Pulmonary embolism 26 / 7739
10
(OMIM) Mesenteric thrombosis 2 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Absent/reduced protein S and normal total proteins in heterozygote 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Heterozygous protein S deficiency, like protein C deficiency (176860), is characterized by recurrent venous thrombosis. Bertina (1990) classified protein S deficiency into 3 clinical subtypes based on laboratory findings. Type I refers to deficiency of both free and ...
Diagnosis OMIM Makris et al. (2000) stated that protein S deficiency has such marked phenotypic variability that it is the most difficult to diagnose of all the inherited thrombophilic conditions. Among a cohort 109 first-degree relatives of 28 patients with ...
Clinical Description OMIM Comp and Esmon (1984) found partial protein S deficiency in 6 unrelated persons with severe recurrent venous thrombosis. Serum protein S levels ranged from 15 to 37% of normal values. Family histories were consistent with autosomal dominant inheritance. ...
Molecular genetics OMIM Formstone et al. (1995) identified 7 different heterozygous mutations in the PROS1 gene (see, e.g., 176880.0002) in patients with protein S deficiency.

In affected members of 22 Spanish families with protein S deficiency, Espinosa-Parrilla et al. ...