THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: THPH6
Number of Symptoms 16
OrphanetNr:
OMIM Id: 614514
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000618) Blindness 124 / 7739
2
(HPO:0001342) Cerebral hemorrhage 24 / 7739
3
(HPO:0004850) Recurrent deep vein thrombosis 4 / 7739
4
(HPO:0005521) Disseminated intravascular coagulation 5 / 7739
5
(HPO:0004420) Arterial thrombosis 20 / 7739
6
(HPO:0005305) Cerebral venous thrombosis 7 / 7739
7
(HPO:0100724) Hypercoagulability 15 / 7739
8
(HPO:0002638) Superficial thrombophlebitis 6 / 7739
9
(HPO:0002204) Pulmonary embolism 26 / 7739
10
(MedDRA:10040893) Skin necrosis 1 / 7739
11
(OMIM) Impaired retinal vasculogenesis 1 / 7739
12
(OMIM) Retinal thrombosis 1 / 7739
13
(OMIM) Neonatal purpura fulminans 2 / 7739
14
(OMIM) Absent/reduced free proteins and absent total protein S 1 / 7739
15
(OMIM) Mesenteric thrombosis 2 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial ...
Clinical Description OMIM Comp et al. (1984) reported 2 brothers with thrombophilia associated with homozygous protein S deficiency. Both had recurrent venous thromboses beginning in their teenage years. Laboratory studies showed no detectable protein S activity in either brother, whereas both ...
Molecular genetics OMIM In a Thai infant with autosomal recessive thrombophilia due to protein S deficiency (Mahasandana et al., 1990), Pung-amritt et al. (1999) identified compound heterozygosity for 2 mutations in the PROS1 gene (176880.0010 and 176880.0011). Each parent, who was ...