Thrombophilia due to protein C deficiency, autosomal recessive

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

Symbol : THPH4;

CISMeF acronym : THPH4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Protein C deficiency, autosomal recessive; Proc deficiency, autosomal recessive;

Description : Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia (Millar et al., 2000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein C gene (PROC, 612283.0003);

Laboratory abnormalities : Plasma protein C deficiency;

Prefixed ID : #612304;

Détails

Origin ID

612304;

UMLS CUI

C2676759;

Automatic exact mappings (from CISMeF team)
- PROC wt Allele [NCIt concept]
- Severe hereditary thrombophilia due to congenital protein C deficiency [ORDO Disease]
- autosomal recessive thrombophilia due to protein C deficiency [DO Concept]
- thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [MeSH Supplementary Concept]
- thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [MeSH concept]
- thrombophilia, hereditary, due to protein S deficiency, autosomal recessive [MeSH Supplementary Concept]
- thrombophilia, hereditary, due to protein S deficiency, autosomal recessive [MeSH concept]
Broader ORDO disease(s)
- Severe hereditary thrombophilia due to congenital protein C deficiency [ORDO Disease]
DO Cross reference
- autosomal recessive thrombophilia due to protein C deficiency [DO Concept]
Genes related to phenotype
- Protein C [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral palsy [HPO term]
- Deep venous thrombosis [HPO term]
- Global developmental delay [HPO term]
- Hypercoagulability [HPO term]
- Pulmonary embolism [HPO term]
- Purpura [HPO term]
- Reduced protein C activity [HPO term]
- Seizure [HPO term]
- Superficial thrombophlebitis [HPO term]
- Variable expressivity [HPO term]
- Vitreous hemorrhage [HPO term]
ORDO concept(s)
- Severe hereditary thrombophilia due to congenital protein C deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive thrombophilia due to protein C deficiency [DO Concept]
- thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [MeSH Supplementary Concept]
- thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients