Thrombophilia due to protein s deficiency, autosomal recessive

Preferred Label : Thrombophilia due to protein s deficiency, autosomal recessive;

Symbol : THPH6;

CISMeF acronym : THPH6;

Type : Phenotype, molecular basis known;

Description : 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 hemorrhage (Pung-amritt et al., 1999; Fischer et al., 2010), whereas others have recurrent thromboses later in childhood (Comp et al., 1984). See also autosomal dominant thrombophilia due to protein S deficiency (THPH5; 612336), a less severe disorder caused by heterozygous mutation in the PROS1 gene.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein S gene (PROS1, 176880.0010);

Laboratory abnormalities : Absent/reduced free proteins and absent total protein S; Disseminated intravascular coagulation;

Prefixed ID : #614514;

Details

Origin ID

614514;

UMLS CUI

C3281092;

Automatic exact mappings (from CISMeF team)
- PROS1 wt Allele [NCIt concept]
- autosomal recessive thrombophilia due to protein S deficiency [DO Concept]
CISMeF manual mappings
- thrombophilia, hereditary, due to protein S deficiency, autosomal recessive [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Severe hereditary thrombophilia due to congenital protein S deficiency [ORDO Disease]
DO Cross reference
- autosomal recessive thrombophilia due to protein S deficiency [DO Concept]
Genes related to phenotype
- Protein s [OMIM gene]
HPO term(s)
- Arterial thrombosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cerebral hemorrhage [HPO term]
- Cerebral venous thrombosis [HPO term]
- Disseminated intravascular coagulation [HPO term]
- Hypercoagulability [HPO term]
- Pulmonary embolism [HPO term]
- Purpura [HPO term]
- Reduced protein S activity [HPO term]
- Superficial thrombophlebitis [HPO term]
ORDO concept(s)
- Severe hereditary thrombophilia due to congenital protein S deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive thrombophilia due to protein S deficiency [DO Concept]

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