Prothrombin deficiency, congenital

Preferred Label : Prothrombin deficiency, congenital;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HYPOPROTHROMBINEMIA;

Included titles and symbols : Dysprothrombinemia;

Description : Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by Lancellotti and De Cristofaro, 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coagulation factor II gene (F2, 176930.0001);

Prefixed ID : #613679;

Details

Origin ID

613679;

UMLS CUI

C0272317;

Automatic exact mappings (from CISMeF team)
- Factor II deficiency [MedDRA Preferred Term]
- Hypoprothrombinemia [MedDRA LLT]
- Hypoprothrombinemia [PASCAL descriptor]
- dysprothrombinemia [MeSH concept]
- dysprothrombinemia [MeSH Supplementary Concept]
- factor II deficiency [Blood Transfusion thesaurus concept]
- hypoprothrombinemias [MeSH Descriptor]
- hypoprothrombinemias [MeSH concept]
- prothrombin deficiency [DO Concept]
Currated CISMeF NLP mapping
- Congenital factor II deficiency [ORDO Disease]
- Hereditary factor II deficiency disease (disorder) [SNOMED CT concept]
- blood clotting factor ii deficiency [Disease (Nov.)]
DO Cross reference
- prothrombin deficiency [DO Concept]
Genes related to phenotype
- Coagulation factor II [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Congenital onset [HPO term]
- Ecchymosis [HPO term]
- Epistaxis [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Gingival bleeding [HPO term]
- Joint hemorrhage [HPO term]
- Menorrhagia [HPO term]
- Prolonged bleeding time [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Prolonged prothrombin time [HPO term]
- Variable expressivity [HPO term]
- obsolete Reduced prothrombin activity [HPO term]
ORDO concept(s)
- Congenital factor II deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Factor II Deficiency [NCIt concept]
- Factor II deficiency [MedDRA Preferred Term]
- Hereditary Factor II Deficiency [NCIt concept]
- Hereditary factor II deficiency disease (disorder) [SNOMED CT concept]
- dysprothrombinemia [MeSH concept]
- dysprothrombinemia [MeSH Supplementary Concept]
- hereditary factor ii deficiency disease [SNOMED Notion]
- hypoprothrombinemias [MeSH Descriptor]
- hypoprothrombinemias [MeSH concept]
- prothrombin deficiency [DO Concept]

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