Antithrombin III deficiency

Preferred Label : Antithrombin III deficiency;

Symbol : AT3D;

CISMeF acronym : AT3D; THPH7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombophilia due to antithrombin III deficiency; THPH7;

Description : Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. Two categories of AT-III deficiency have been defined on the basis of AT-III antigen levels in the plasma of affected individuals. The majority of AT-III deficiency families belong in the type I (classic) deficiency group and have a quantitatively abnormal phenotype in which antigen and heparin cofactor levels are both reduced to about 50% of normal. The second category of AT-III deficiency has been termed type II (functional) deficiency. Affected individuals from these kindreds produce dysfunctional AT-III molecules; they have reduced heparin cofactor activity levels (about 50% of normal) but levels of AT-III antigen are often normal or nearly normal (summary by Bock and Prochownik, 1987). The 2 categories of antithrombmin III deficiency have been classified further. Type I (low functional and immunologic antithrombin) has been subdivided into subtype Ia (reduced levels of normal antithrombin), and type Ib (reduced levels of antithrombin and the presence of low levels of a variant). Type II (low functional but normal immunologic antithrombin) has been subdivided into subtype IIa (functional abnormalities affecting both the reactive site and the heparin-binding site of AT3); subtype IIb (functional abnormalities limited to the reactive site); and subtype IIc (functional abnormalities limited to the heparin-binding site) (summary by Lane et al., 1992).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the antithrombin III gene (AT3, 107300.0001);

Laboratory abnormalities : Antithrombin III deficiency; Type II, normal antithrombin III level but decreased activity; Type I, classic, decreased antithrombin III levels;

Prefixed ID : #613118;

Details

Origin ID

613118;

UMLS CUI

C0272375;

Automatic exact mappings (from CISMeF team)
- SERPINC1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Antithrombin III Deficiency [NCIt concept]
- Antithrombin III decreased [MedDRA Preferred Term]
- Antithrombin III deficiency [PASCAL descriptor]
- Antithrombin III deficiency [MedDRA Preferred Term]
- Antithrombin III deficiency (disorder) [SNOMED CT concept]
- Hereditary thrombophilia due to congenital antithrombin deficiency [ORDO Disease]
- Reduced antithrombin III activity [HPO term]
- antithrombin III deficiency [DO Concept]
- antithrombin III deficiency [Disease (Nov.)]
- antithrombin III deficiency [MeSH concept]
- antithrombin iii deficiency [MeSH Descriptor]
- antithrombin iii deficiency [SNOMED Notion]
- antithrombin iii deficiency [TUV Concept]
DO Cross reference
- antithrombin III deficiency [DO Concept]
Genes related to phenotype
- Serpin peptidase inhibitor, clade C (antithrombin), member 1 [OMIM gene]
HPO term(s)
- Arterial occlusion [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral venous thrombosis [HPO term]
- Deep venous thrombosis [HPO term]
- Pulmonary embolism [HPO term]
- Recurrent thrombophlebitis [HPO term]
- Reduced antithrombin III activity [HPO term]
ORDO concept(s)
- Hereditary thrombophilia due to congenital antithrombin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Antithrombin III Deficiency [NCIt concept]
- Antithrombin III deficiency [MedDRA Preferred Term]
- Antithrombin III deficiency [PASCAL descriptor]
- Antithrombin III deficiency (disorder) [SNOMED CT concept]
- Antithrombin deficiency [MedDRA LLT]
- Hereditary thrombophilia due to congenital antithrombin deficiency [ORDO Disease]
- Reduced antithrombin III activity [HPO term]
- antithrombin III deficiency [MeSH concept]
- antithrombin III deficiency [DO Concept]
- antithrombin III deficiency [Disease (Nov.)]
- antithrombin iii deficiency [SNOMED Notion]
- antithrombin iii deficiency [MeSH Descriptor]
- antithrombin iii deficiency [TUV Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients