Hereditary thrombophilia due to congenital antithrombin deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
AT3D
THPH7
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
Number of Symptoms 12
OrphanetNr: 82
OMIM Id: 613118
ICD-10: D68.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hereditary thrombophilia
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002625) Deep venous thrombosis 10 / 7739
2
(HPO:0004419) Recurrent thrombophlebitis 4 / 7739
3
(HPO:0001976) Reduced antithrombin III activity 10 / 7739
4
(HPO:0005305) Cerebral venous thrombosis 7 / 7739
5
(HPO:0002204) Pulmonary embolism 26 / 7739
6
(OMIM) Type I, classic, decreased antithrombin III levels 1 / 7739
7
(MedDRA:10062173) Venoocclusive disease 2 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(MedDRA:10027402) Mesenteric vein thrombosis 1 / 7739
10
(OMIM) Type II, normal antithrombin III level but decreased activity 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Arterial occlusion rare 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Egeberg (1965) described a pedigree in which persons in 3 generations had florid thrombophlebitis and other thrombotic disease associated with about half-normal levels of antithrombin III. He suggested that antithrombin III may be the same as heparin cofactor. ...
Molecular genetics OMIM In the first family reported with thrombophilia due to AT-III deficiency by Egeberg (1965), Hultin et al. (1988) identified a mutation in the AT3 gene (107300.0001). The AT-III protein in patients with AT-III Oslo is decreased in both ...
Population genetics OMIM Rosenberg (1975) placed the prevalence of AT-III deficiency at 1 per 2,000 and the frequency among hospitalized patients with recurrent or extensive thrombosis at 2 to 3%.

Harper et al. (1991) concluded that the frequency of ...