AT3D
MCID: ANT009
MIFTS: 59

Antithrombin Iii Deficiency (AT3D)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Antithrombin Iii Deficiency

MalaCards integrated aliases for Antithrombin Iii Deficiency:

Name: Antithrombin Iii Deficiency 57 12 20 43 72 36 29 54 6 44 15 39 70
Hereditary Thrombophilia Due to Congenital Antithrombin Deficiency 12 20 58
Thrombophilia Due to Antithrombin Iii Deficiency 57 20 13
Hereditary Antithrombin Deficiency 20 43 70
Hereditary Thrombophilia Due to Congenital Antithrombin 3 Deficiency 20 58
Congenital Antithrombin Iii Deficiency 20 43
Antithrombin Deficiency 72 6
Thph7 57 72
At3d 57 72
Thrombophilia Due to Antithrombin Iii Deficiency; Thph7 57
Thrombophilia Due to Antithrombin-Iii Deficiency 72
Inherited Antithrombin Deficiency 20
Congenital at-Iii Deficiency 20
Antithrombin-Iii Deficiency 72
Antithrombin 3 Deficiency 72
at Iii Deficiency 12
at-Iii Deficiency 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant


HPO:

31
antithrombin iii deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:3755
OMIM® 57 613118
OMIM Phenotypic Series 57 PS188050
KEGG 36 H01381
MeSH 44 D020152
NCIt 50 C98815
SNOMED-CT 67 36351005
ICD10 32 D68.59
ICD10 via Orphanet 33 D68.5
Orphanet 58 ORPHA82
MedGen 41 C0272375
UMLS 70 C0272375 C3658294

Summaries for Antithrombin Iii Deficiency

OMIM® : 57 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). (613118) (Updated 20-May-2021)

MalaCards based summary : Antithrombin Iii Deficiency, also known as hereditary thrombophilia due to congenital antithrombin deficiency, is related to budd-chiari syndrome and nephrotic syndrome. An important gene associated with Antithrombin Iii Deficiency is SERPINC1 (Serpin Family C Member 1), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Heparin and calcium heparin have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney, and related phenotypes are reduced antithrombin iii activity and reduced antithrombin antigen

Disease Ontology : 12 A thrombophilia that is characterized by the tendency to form clots in the veins.

MedlinePlus Genetics : 43 Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT). Affected individuals also have an increased risk of developing a pulmonary embolism (PE), which is a clot that travels through the bloodstream and lodges in the lungs. In hereditary antithrombin deficiency, abnormal blood clots usually form only in veins, although they may rarely occur in arteries.About half of people with hereditary antithrombin deficiency will develop at least one abnormal blood clot during their lifetime. These clots usually develop after adolescence.Other factors can increase the risk of abnormal blood clots in people with hereditary antithrombin deficiency. These factors include increasing age, surgery, or immobility. The combination of hereditary antithrombin deficiency and other inherited disorders of blood clotting can also influence risk. Women with hereditary antithrombin deficiency are at increased risk of developing an abnormal blood clot during pregnancy or soon after delivery. They also may have an increased risk for pregnancy loss (miscarriage) or stillbirth.

GARD : 20 Hereditary antithrombin deficiency, also known as antithrombin III deficiency or AT III deficiency, is a disorder in which individuals are at increased risk for developing blood clots. The type of blood clots seen in individuals with this condition are typically clots that form in the deep veins of the leg ( deep vein thrombosis or DVT) and clots that lodge in the lungs ( pulmonary embolism or PE). Approximately 50% of individuals with hereditary antithrombin deficiency will develop one or more clots in their lifetime, usually after adolescence. Factors that may increase the likelihood of clotting include pregnancy, the use of oral contraceptives, surgery, increasing age, and a lack of movement. Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene and is typically inherited in an autosomal dominant manner.

KEGG : 36 Inherited Antithrombin (AT) deficiency is an autosomal dominant disorder, that is associated with an increased risk for venous thromboembolism (VTE) and pregnancy loss. AT is a potent inactivator of thrombin and factor Xa and the major inhibitor of blood coagulation. This disease is divided into type I deficiency, in which both the functional activity and antigenic levels AT are proportionately reduced, and type II deficiency, in which normal antigen levels are found in association with low AT activity due to a dysfunctional protein. Type II deficiencies can be further subclassified into three types, depending on the location of the mutations. Type IIa is caused by mutations that affect AT's reactive site. Type IIb is characterized by an abnormality of the heparin-binding domain. Type IIc variants are a pleiotropic group of mutations near the reactive loop site.

UniProtKB/Swiss-Prot : 72 Antithrombin III deficiency: An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations.

Wikipedia : 73 Antithrombin (AT) is a small protein molecule that inactivates several enzymes of the coagulation... more...

Related Diseases for Antithrombin Iii Deficiency

Diseases related to Antithrombin Iii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 268)
# Related Disease Score Top Affiliating Genes
1 budd-chiari syndrome 30.6 SERPINC1 MTHFR JAK2 F5 F2 APOH
2 nephrotic syndrome 30.3 SERPINC1 PLG FGA F2
3 eclampsia 30.1 SERPINC1 MTHFR F2
4 venous insufficiency 30.0 MTHFR F5 F2
5 chronic venous insufficiency 30.0 MTHFR F2
6 factor x deficiency 30.0 F5 F2 F10
7 heparin-induced thrombocytopenia 29.9 SERPINC1 PF4 F10
8 atrial fibrillation 29.9 PF4 F2 F10
9 intracranial embolism 29.9 SERPINC1 PLG F2
10 severe pre-eclampsia 29.9 SERPINC1 F5 APOH
11 sagittal sinus thrombosis 29.9 SERPINC1 PLG JAK2 F5 F2
12 polycythemia 29.8 SERPINC1 JAK2 F5 F2
13 coronary thrombosis 29.8 SERPINC1 PLG FGA
14 factor vii deficiency 29.8 SERPINC1 F2 F10
15 disseminated intravascular coagulation 29.8 SERPINC1 PLG FGA F5 F2 F10
16 purpura 29.7 SERPINC1 F2 APOH
17 post-thrombotic syndrome 29.7 SERPINC1 PLG F5 F2
18 papilledema 29.7 SERPINC1 F2 APOH
19 homocystinuria 29.6 SERPINC1 MTHFR F5
20 varicose veins 29.6 SERPINC1 MTHFR F5 F2
21 pulmonary embolism 29.6 SERPINC1 MTHFR F5 F2 F10 APOH
22 factor viii deficiency 29.5 SERPINC1 F5 F2 F10
23 adult respiratory distress syndrome 29.5 PLG F5 F2
24 carotid artery occlusion 29.5 PLG F5 APOH
25 infective endocarditis 29.5 PF4 F2 APOH
26 intracranial sinus thrombosis 29.4 SERPINC1 PLG MTHFR F2
27 osteonecrosis 29.4 SERPINC1 PLG MTHFR F2
28 atrial heart septal defect 29.4 SERPINC1 PLG MTHFR F2
29 purpura fulminans 29.4 SERPINC1 F5 F2 APOH
30 thrombocytosis 29.3 SERPINC1 PF4 JAK2 FGA F2
31 pre-eclampsia 29.3 SERPINC1 MTHFR F5 F2 APOH
32 thrombophlebitis 29.2 SERPINC1 PLG MTHFR F5 F2 APOH
33 portal vein thrombosis 29.2 SERPINC1 MTHFR JAK2 F5 F2 APOH
34 inflammatory bowel disease 29.2 SERPINC1 MTHFR JAK2 F5 F2
35 cerebral sinovenous thrombosis 29.2 MTHFR F5 F2 APOH
36 ischemic colitis 29.2 SERPINC1 JAK2 F5 F2 APOH
37 protein c deficiency 29.2 SERPINC1 MTHFR F5 F2 APOH
38 respiratory failure 29.1 PF4 FGA F2
39 beta-thalassemia 29.1 SERPINC1 MTHFR JAK2 F5 F2
40 thrombophilia due to thrombin defect 29.0 SERPINC1 PF4 MTHFR FGA F5 F2
41 afibrinogenemia, congenital 29.0 SERPINC1 PLG FGA F2 F10
42 retinal vein occlusion 28.9 SERPINC1 MTHFR F5 F2 APOH
43 hellp syndrome 28.9 SERPINC1 MTHFR F5 F2 APOH
44 placental abruption 28.9 SERPINC1 MTHFR F5 F2 APOH
45 placenta disease 28.9 SERPINC1 MTHFR F5 F2 APOH
46 homocysteinemia 28.9 SERPINC1 MTHFR F5 F2 APOH
47 livedoid vasculitis 28.8 SERPINC1 PLG MTHFR F2 APOH
48 antiphospholipid syndrome 28.7 SERPINC1 PF4 MTHFR F5 F2 F10
49 central retinal vein occlusion 28.7 SERPINC1 MTHFR JAK2 F5 F2 APOH
50 retinal vascular occlusion 28.5 SERPINC1 PLG MTHFR F5 F2 APOH

Graphical network of the top 20 diseases related to Antithrombin Iii Deficiency:



Diseases related to Antithrombin Iii Deficiency

Symptoms & Phenotypes for Antithrombin Iii Deficiency

Human phenotypes related to Antithrombin Iii Deficiency:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced antithrombin iii activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001976
2 reduced antithrombin antigen 58 31 hallmark (90%) Very frequent (99-80%) HP:0040246
3 pulmonary embolism 58 31 frequent (33%) Frequent (79-30%) HP:0002204
4 deep venous thrombosis 58 31 frequent (33%) Frequent (79-30%) HP:0002625
5 pregnancy exposure 58 31 frequent (33%) Frequent (79-30%) HP:0031437
6 recurrent thromboembolism 58 31 frequent (33%) Frequent (79-30%) HP:0004831
7 superficial thrombophlebitis 58 31 frequent (33%) Frequent (79-30%) HP:0002638
8 arterial thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004420
9 portal vein thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030242
10 retinal vein occlusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0012636
11 mesenteric venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030248
12 hepatic vein thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030243
13 recurrent spontaneous abortion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200067
14 cerebral venous thrombosis 58 31 very rare (1%) Very rare (<4-1%) HP:0005305
15 spontaneous abortion 58 Occasional (29-5%)
16 arterial occlusion 31 HP:0025324
17 recurrent thrombophlebitis 31 HP:0004419

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Lung:
pulmonary embolism

Laboratory Abnormalities:
antithrombin iii deficiency
type i, classic, decreased antithrombin iii levels
type ii, normal antithrombin iii level but decreased activity

Neurologic Central Nervous System:
cerebral vein thrombosis

Cardiovascular Vascular:
deep vein thrombosis
venoocclusive disease
recurrent thrombophlebitis (e.g. homozygous at-iii toyama)
arterial occlusion rare

Abdomen Gastrointestinal:
mesenteric vein thrombosis

Clinical features from OMIM®:

613118 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Antithrombin Iii Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 APOH F10 F2 F5 FGA JAK2
2 cardiovascular system MP:0005385 9.91 F10 F2 F5 FGA JAK2 PLG
3 integument MP:0010771 9.73 F2 F5 FGA JAK2 MTHFR PLG
4 liver/biliary system MP:0005370 9.63 F5 FGA JAK2 MTHFR PLG SERPINC1
5 mortality/aging MP:0010768 9.61 APOH F10 F2 F5 FGA JAK2
6 reproductive system MP:0005389 9.17 F10 F2 FGA JAK2 MTHFR PLG

Drugs & Therapeutics for Antithrombin Iii Deficiency

Drugs for Antithrombin Iii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
2 calcium heparin Phase 4
3 Vaccines Phase 3
4
Thrombin Approved, Investigational Phase 2
5 Anesthetics Phase 2
6 Coagulants Phase 2
7 Hemostatics Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4 Recombinant antithrombin (rhAT)
2 Clinical Effect of Atenativ Treatment on Uterine Blood Flow and the Amount of Atenativ Needed to Maintain a Normal Antithrombin Lvels During Two Weeks in Early and Severe Preeclampsia Withdrawn NCT02278575 Phase 4 Atenativ
3 A Multicenter, Multinational Study to Assess the Safety and Efficacy of Antithrombin Alfa in Hereditary Antithrombin (AT) Deficient Patients in High-Risk Situations for Thrombosis Completed NCT00110513 Phase 3
4 A Study to Assess the Incidence of Deep Vein Thrombosis (DVT) Following Prophylactic Intravenous Administration of Recombinant Human Antithrombin(rhAT) to Hereditary Antithrombin (AT) Deficient Patients in High Risk Situations. Completed NCT00056550 Phase 3
5 A Phase II/III Pivotal Trial Evaluating the Safety, Pharmacokinetic Properties and Efficacy of a Plasma-Derived Anti-thrombin III Concentrate With Administration in Surgery, Pregnancy and Thromboembolic or Thrombotic Events. Active, not recruiting NCT00319228 Phase 2, Phase 3 Plasma-derived AT-III concentrate
6 A Prospective Randomized Pilot Study to Evaluate the Effect of Preoperative Antithrombin Supplementation on Postoperative Levels of Antithrombin in Patients Undergoing Cardiac Surgery With Cardiopulmonary Bypass Completed NCT00823082 Phase 2 Antithrombin III
7 Double Blind Randomized Placebo-controlled Study in Children (<6mo) Comparing the Effects of Anti-thrombin III (ATIII) or Placebo on the Coagulation System in Infants With Known Low ATIII Levels Undergoing Open Congenital Cardiac Surgery Completed NCT02103114 Phase 2 Anti-thrombin III
8 A Phase I Study to Determine the Pharmacokinetic Profile, Safety and Tolerability of a Single Dose (50IU/kg) of KW-3357 in Subjects With Congenital Antithrombin Deficiency. Completed NCT00938288 Phase 1 KW-3357
9 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG) Unknown status NCT02503267
10 Evaluation of Antithrombin Deficiency in Patients of Intensive Care Unit Placed on Extracorporeal Membrane Oxygenation Recruiting NCT04133844
11 A Pilot Study, Prospective, Non-Randomized, Non-Blinded, Single-Center Study Evaluating the Response of Continuous Recombinant Antithrombin (ATryn) Infusion in Postcardiotomy ECMO Patients Withdrawn NCT03090893 Early Phase 1 ATryn continuous infusion

Search NIH Clinical Center for Antithrombin Iii Deficiency

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Antithrombin III, Human
ANTITHROMBIN III,RECOMBINANT

Cochrane evidence based reviews: antithrombin iii deficiency

Genetic Tests for Antithrombin Iii Deficiency

Genetic tests related to Antithrombin Iii Deficiency:

# Genetic test Affiliating Genes
1 Antithrombin Iii Deficiency 29 SERPINC1

Anatomical Context for Antithrombin Iii Deficiency

MalaCards organs/tissues related to Antithrombin Iii Deficiency:

40
Heart, Liver, Kidney, Spinal Cord, Brain, Whole Blood, Myeloid

Publications for Antithrombin Iii Deficiency

Articles related to Antithrombin Iii Deficiency:

(show top 50) (show all 703)
# Title Authors PMID Year
1
Molecular genetic survey of 16 kindreds with hereditary antithrombin III deficiency. 61 6 57
3663935 1987
2
Recurrent deletion in the human antithrombin III gene. 57 6
1868237 1991
3
The incidence of dysfunctional antithrombin variants: four cases in 210 patients with thromboembolic disease. 57 6
2012760 1991
4
Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding. 6 57
2365065 1990
5
Antithrombin III Avranches, a new variant with defective serine-protease inhibition--comparison with antithrombin III Charleville. 6 57
3187951 1988
6
Antithrombin Oslo: type Ib classification of the first reported antithrombin-deficient family, with a review of hereditary antithrombin variants. 6 57
3055413 1988
7
Proposed heparin binding site in antithrombin based on arginine 47. A new variant Rouen-II, 47 Arg to Ser. 6 57
3350974 1988
8
Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability. 6 57
6582486 1984
9
INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA. 6 57
14347873 1965
10
Mortality in hereditary antithrombin-III deficiency--1830 to 1989. 61 57
1671110 1991
11
Premature arterial disease associated with familial antithrombin III deficiency. 57 61
2339350 1990
12
Mesenteric venous thrombosis and antithrombin III deficiency. 61 57
3654990 1987
13
Hereditary antithrombin III deficiency and pregnancy: report of two cases and review of the literature. 57 61
4039808 1985
14
Heterogeneity of the "classical" antithrombin III deficiency. 57 61
7455972 1980
15
Platelet antithrombin deficiency: a new clinical entity. 61 57
102191 1978
16
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
17
Pulmonary embolism presenting with acute abdominal pain in a girl with stable ankle fracture and inherited antithrombin deficiency. 6
29662868 2018
18
Expression and functional characterization of two natural heparin-binding site variants of antithrombin. 6
29215785 2018
19
Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center. 6
29153735 2017
20
Defects of splicing in antithrombin deficiency. 6
30046692 2017
21
Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients. 6
28607330 2017
22
SERPINC1 gene mutations in antithrombin deficiency. 6
28317092 2017
23
Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency. 6
28300866 2017
24
Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency. 6
27098529 2016
25
Ultrasound Assisted Endovascular Thrombolysis in Adolescents: 2 Case Reports. 6
27283015 2016
26
Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort. 6
26748602 2016
27
Heparanase Activates Antithrombin through the Binding to Its Heparin Binding Site. 6
27322195 2016
28
Antithrombin heparin binding site deficiency: A challenging diagnosis of a not so benign thrombophilia. 6
25837307 2015
29
Discordant diagnoses obtained by different approaches in antithrombin mutation analysis. 6
24956267 2014
30
A complex genomic abnormality found in a patient with antithrombin deficiency and autoimmune disease-like symptoms. 6
24889358 2014
31
Homozygous antithrombin deficiency in adolescents presenting with lower extremity thrombosis and renal complications: two case reports from Turkey. 6
24072242 2014
32
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. 6
24162787 2014
33
A new case of successful outcome of pregnancy in a carrier of homozygous type II (L99F) antithrombin deficiency. 6
24158114 2014
34
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. 6
23910795 2013
35
Recurrent ischemic cerebrovascular events in a patient with type I antithrombin deficiency caused by 9788 G>A splice site mutation: a case report. 6
23358206 2013
36
Use of recombinant human antithrombin concentrate in pregnancy. 6
24082793 2013
37
The infective polymerization of conformationally unstable antithrombin mutants may play a role in the clinical severity of antithrombin deficiency. 6
22481271 2012
38
Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism. 6
22498748 2012
39
Molecular basis of antithrombin deficiency. 6
21264449 2011
40
A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. 6
21325262 2011
41
Influence of natural SERPINC1 mutations on ex vivo thrombin generation. 6
20088933 2010
42
Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography. 6
16956830 2006
43
Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene. 6
16705712 2006
44
[A heterozygous point mutation G13328A in antithrombin gene causes thrombosis]. 6
16620552 2005
45
Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors. 6
15164384 2004
46
Deletion of P1 arginine in a novel antithrombin variant (antithrombin London) abolishes inhibitory activity but enhances heparin affinity and is associated with early onset thrombosis. 6
12591924 2003
47
Intracellular accumulation of antithrombin Morioka (C95R), a novel mutation causing type I antithrombin deficiency. 6
12399451 2002
48
Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate. 6
11713457 2001
49
Creation of an additional glycosylation site as a mechanism for type I antithrombin deficiency. 6
11686319 2001
50
Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency--partial/complete deletions and rearrangement of the antithrombin gene. 6
10823268 2000

Variations for Antithrombin Iii Deficiency

ClinVar genetic disease variations for Antithrombin Iii Deficiency:

6 (show top 50) (show all 132)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINC1 AT-III Roma Variation Pathogenic 18005 GRCh37:
GRCh38:
2 SERPINC1 AT-III Trento Variation Pathogenic 18006 GRCh37:
GRCh38:
3 SERPINC1 NM_000488.3(SERPINC1):c.1246G>C (p.Ala416Pro) SNV Pathogenic 18007 rs121909548 GRCh37: 1:173873176-173873176
GRCh38: 1:173904038-173904038
4 SERPINC1 AT-III Fontainebleu Variation Pathogenic 18008 GRCh37:
GRCh38:
5 SERPINC1 NM_000488.3(SERPINC1):c.1274G>C (p.Arg425Pro) SNV Pathogenic 18009 rs121909549 GRCh37: 1:173873148-173873148
GRCh38: 1:173904010-173904010
6 SERPINC1 NM_000488.3(SERPINC1):c.1277C>T (p.Ser426Leu) SNV Pathogenic 18010 rs121909550 GRCh37: 1:173873145-173873145
GRCh38: 1:173904007-173904007
7 SERPINC1 NM_000488.3(SERPINC1):c.1306G>A (p.Ala436Thr) SNV Pathogenic 18003 rs121909546 GRCh37: 1:173873116-173873116
GRCh38: 1:173903978-173903978
8 SERPINC1 AT-III Barcelona Variation Pathogenic 18013 GRCh37:
GRCh38:
9 SERPINC1 NM_000488.3(SERPINC1):c.235C>A (p.Arg79Ser) SNV Pathogenic 18015 rs121909547 GRCh37: 1:173883864-173883864
GRCh38: 1:173914726-173914726
10 SERPINC1 NM_000488.3(SERPINC1):c.1273C>T (p.Arg425Cys) SNV Pathogenic 18016 rs121909554 GRCh37: 1:173873149-173873149
GRCh38: 1:173904011-173904011
11 SERPINC1 NM_000488.3(SERPINC1):c.1316C>T (p.Pro439Leu) SNV Pathogenic 18017 rs121909555 GRCh37: 1:173873106-173873106
GRCh38: 1:173903968-173903968
12 SERPINC1 NM_000488.3(SERPINC1):c.1274G>A (p.Arg425His) SNV Pathogenic 18019 rs121909549 GRCh37: 1:173873148-173873148
GRCh38: 1:173904010-173904010
13 SERPINC1 NM_000488.3(SERPINC1):c.1240G>A (p.Ala414Thr) SNV Pathogenic 18020 rs121909557 GRCh37: 1:173873182-173873182
GRCh38: 1:173904044-173904044
14 SERPINC1 NM_001365052.1(SERPINC1):c.-29T>A SNV Pathogenic 18021 rs121909558 GRCh37: 1:173883983-173883983
GRCh38: 1:173914845-173914845
15 SERPINC1 NM_000488.3(SERPINC1):c.166C>T (p.Arg56Cys) SNV Pathogenic 18022 rs28929469 GRCh37: 1:173883933-173883933
GRCh38: 1:173914795-173914795
16 SERPINC1 SERPINC1, 1-BP DEL, A Deletion Pathogenic 18024 GRCh37:
GRCh38:
17 SERPINC1 SERPINC1, 2-BP DEL, AG Deletion Pathogenic 18025 GRCh37:
GRCh38:
18 SERPINC1 NM_000488.3(SERPINC1):c.779dup (p.Phe261fs) Duplication Pathogenic 18026 rs1572088837 GRCh37: 1:173879063-173879064
GRCh38: 1:173909925-173909926
19 SERPINC1 NM_000488.3(SERPINC1):c.965_966AG[1] (p.Ser323fs) Microsatellite Pathogenic 18027 rs121909560 GRCh37: 1:173878875-173878876
GRCh38: 1:173909737-173909738
20 SERPINC1 NM_000488.3(SERPINC1):c.1021_1024del (p.Asp341fs) Deletion Pathogenic 18028 rs121909561 GRCh37: 1:173878819-173878822
GRCh38: 1:173909681-173909684
21 SERPINC1 NM_000488.3(SERPINC1):c.481C>T (p.Arg161Ter) SNV Pathogenic 18029 rs121909562 GRCh37: 1:173881080-173881080
GRCh38: 1:173911942-173911942
22 SERPINC1 NM_000488.3(SERPINC1):c.482G>A (p.Arg161Gln) SNV Pathogenic 18030 rs121909563 GRCh37: 1:173881079-173881079
GRCh38: 1:173911941-173911941
23 SERPINC1 NM_000488.3(SERPINC1):c.1382C>T (p.Pro461Leu) SNV Pathogenic 18031 rs121909564 GRCh37: 1:173873040-173873040
GRCh38: 1:173903902-173903902
24 SERPINC1 NM_000488.3(SERPINC1):c.1141T>C (p.Ser381Pro) SNV Pathogenic 18032 rs121909565 GRCh37: 1:173878702-173878702
GRCh38: 1:173909564-173909564
25 SERPINC1 NM_000488.3(SERPINC1):c.1271G>A (p.Gly424Asp) SNV Pathogenic 18033 rs121909566 GRCh37: 1:173873151-173873151
GRCh38: 1:173904013-173904013
26 SERPINC1 SERPINC1, 1-BP INS, T, CODON 48 Insertion Pathogenic 18035 GRCh37:
GRCh38:
27 SERPINC1 SERPINC1, 1-BP INS, A, CODON 208 Insertion Pathogenic 18036 GRCh37:
GRCh38:
28 SERPINC1 SERPINC1, 1-BP DEL, A, CODON 370 Deletion Pathogenic 18037 GRCh37:
GRCh38:
29 SERPINC1 NM_000488.3(SERPINC1):c.1256C>T (p.Ala419Val) SNV Pathogenic 18038 rs121909568 GRCh37: 1:173873166-173873166
GRCh38: 1:173904028-173904028
30 SERPINC1 NM_000488.3(SERPINC1):c.442T>C (p.Ser148Pro) SNV Pathogenic 18039 rs121909569 GRCh37: 1:173881119-173881119
GRCh38: 1:173911981-173911981
31 SERPINC1 NM_000488.3(SERPINC1):c.500A>C (p.Asn167Thr) SNV Pathogenic 18041 rs121909570 GRCh37: 1:173881061-173881061
GRCh38: 1:173911923-173911923
32 SERPINC1 NM_000488.3(SERPINC1):c.667T>C (p.Ser223Pro) SNV Pathogenic 18043 rs121909572 GRCh37: 1:173879987-173879987
GRCh38: 1:173910849-173910849
33 SERPINC1 NM_000488.3(SERPINC1):c.379T>C (p.Cys127Arg) SNV Pathogenic 18044 rs121909573 GRCh37: 1:173883720-173883720
GRCh38: 1:173914582-173914582
34 SERPINC1 SERPINC1, 3-BP DEL Deletion Pathogenic 18045 GRCh37:
GRCh38:
35 SERPINC1 SERPINC1, 9-BP DEL, NT13395 Deletion Pathogenic 18046 GRCh37:
GRCh38:
36 SERPINC1 NM_001365052.1(SERPINC1):c.312_314CTT[2] (p.Phe107del) Microsatellite Pathogenic 188092 rs786204063 GRCh37: 1:173881097-173881099
GRCh38: 1:173911959-173911961
37 SERPINC1 NM_000488.3(SERPINC1):c.1060del (p.Arg354fs) Deletion Pathogenic 216071 rs863224495 GRCh37: 1:173878783-173878783
GRCh38: 1:173909645-173909645
38 SERPINC1 NC_000001.11:g.(?_173903804)_(173917378_?)del Deletion Pathogenic 417521 GRCh37: 1:173872942-173886516
GRCh38: 1:173903804-173917378
39 SERPINC1 NM_000488.3(SERPINC1):c.766del (p.Leu256fs) Deletion Pathogenic 645305 rs1572088865 GRCh37: 1:173879077-173879077
GRCh38: 1:173909939-173909939
40 SERPINC1 NM_000488.3(SERPINC1):c.415_420del (p.Lys139_Phe140del) Deletion Pathogenic 661362 rs1572090368 GRCh37: 1:173881141-173881146
GRCh38: 1:173912003-173912008
41 SERPINC1 NM_000488.3(SERPINC1):c.448dup (p.Gln150fs) Duplication Pathogenic 661606 rs1572090305 GRCh37: 1:173881112-173881113
GRCh38: 1:173911974-173911975
42 SERPINC1 NM_001365052.1(SERPINC1):c.686_687del (p.Glu229fs) Microsatellite Pathogenic 961679 GRCh37: 1:173879012-173879013
GRCh38: 1:173909874-173909875
43 SERPINC1 NM_000488.3(SERPINC1):c.624+1G>A SNV Pathogenic 694627 rs1572090079 GRCh37: 1:173880936-173880936
GRCh38: 1:173911798-173911798
44 SERPINC1 NC_000001.11:g.(?_173903889)_(173917430_?)del Deletion Pathogenic 833112 GRCh37: 1:173873027-173886568
GRCh38:
45 SERPINC1 NM_000488.3(SERPINC1):c.341G>A (p.Ser114Asn) SNV Pathogenic 843350 GRCh37: 1:173883758-173883758
GRCh38: 1:173914620-173914620
46 SERPINC1 NM_001365052.1(SERPINC1):c.-77T>C SNV Pathogenic 18040 rs387906575 GRCh37: 1:173884031-173884031
GRCh38: 1:173914893-173914893
47 SERPINC1 NM_000488.3(SERPINC1):c.1154-14G>A SNV Pathogenic/Likely pathogenic 410384 rs542881762 GRCh37: 1:173876666-173876666
GRCh38: 1:173907528-173907528
48 SERPINC1 NM_000488.3(SERPINC1):c.391C>T (p.Leu131Phe) SNV Pathogenic/Likely pathogenic 18034 rs121909567 GRCh37: 1:173883708-173883708
GRCh38: 1:173914570-173914570
49 SERPINC1 NM_000488.3(SERPINC1):c.235C>T (p.Arg79Cys) SNV Pathogenic/Likely pathogenic 18004 rs121909547 GRCh37: 1:173883864-173883864
GRCh38: 1:173914726-173914726
50 SERPINC1 NM_000488.3(SERPINC1):c.218C>T (p.Pro73Leu) SNV Pathogenic/Likely pathogenic 18011 rs121909551 GRCh37: 1:173883881-173883881
GRCh38: 1:173914743-173914743

UniProtKB/Swiss-Prot genetic disease variations for Antithrombin Iii Deficiency:

72 (show top 50) (show all 84)
# Symbol AA change Variation ID SNP ID
1 SERPINC1 p.Ile39Asn VAR_007033 rs121909558
2 SERPINC1 p.Arg56Cys VAR_007035 rs28929469
3 SERPINC1 p.Pro73Leu VAR_007036 rs121909551
4 SERPINC1 p.Arg79Cys VAR_007037 rs121909547
5 SERPINC1 p.Arg79His VAR_007038 rs121909552
6 SERPINC1 p.Arg79Ser VAR_007039 rs121909547
7 SERPINC1 p.Arg89Cys VAR_007041 rs147266200
8 SERPINC1 p.Phe90Leu VAR_007042
9 SERPINC1 p.Pro112Thr VAR_007044
10 SERPINC1 p.Leu131Phe VAR_007045 rs121909567
11 SERPINC1 p.Leu131Val VAR_007046
12 SERPINC1 p.Gln133Lys VAR_007047 rs141133120
13 SERPINC1 p.Ser148Pro VAR_007049 rs121909569
14 SERPINC1 p.Gln150Pro VAR_007050 rs765445413
15 SERPINC1 p.His152Tyr VAR_007051
16 SERPINC1 p.Leu158Pro VAR_007053
17 SERPINC1 p.Arg161Gln VAR_007054 rs121909563
18 SERPINC1 p.Tyr198Cys VAR_007056 rs142553203
19 SERPINC1 p.Ser214Tyr VAR_007057 rs483352854
20 SERPINC1 p.Asn219Lys VAR_007058
21 SERPINC1 p.Asn219Asp VAR_007059 rs121909571
22 SERPINC1 p.Glu269Lys VAR_007060 rs758087836
23 SERPINC1 p.Met283Ile VAR_007062
24 SERPINC1 p.Leu302Pro VAR_007063
25 SERPINC1 p.Ile316Asn VAR_007064
26 SERPINC1 p.Glu334Lys VAR_007065
27 SERPINC1 p.Ser381Pro VAR_007067 rs121909565
28 SERPINC1 p.Ala414Thr VAR_007069 rs121909557
29 SERPINC1 p.Ala416Pro VAR_007070 rs121909548
30 SERPINC1 p.Ala416Ser VAR_007071 rs121909548
31 SERPINC1 p.Ala419Val VAR_007072 rs121909568
32 SERPINC1 p.Gly424Asp VAR_007073 rs121909566
33 SERPINC1 p.Arg425His VAR_007074 rs121909549
34 SERPINC1 p.Arg425Cys VAR_007075 rs121909554
35 SERPINC1 p.Arg425Pro VAR_007076 rs121909549
36 SERPINC1 p.Ser426Leu VAR_007077 rs121909550
37 SERPINC1 p.Phe434Cys VAR_007078
38 SERPINC1 p.Phe434Ser VAR_007079
39 SERPINC1 p.Phe434Leu VAR_007080
40 SERPINC1 p.Ala436Thr VAR_007081 rs121909546
41 SERPINC1 p.Asn437Lys VAR_007082 rs130135185
42 SERPINC1 p.Arg438Met VAR_007083
43 SERPINC1 p.Pro439Leu VAR_007084 rs121909555
44 SERPINC1 p.Pro439Thr VAR_007085 rs148741156
45 SERPINC1 p.Ile453Thr VAR_007086
46 SERPINC1 p.Gly456Arg VAR_007087
47 SERPINC1 p.Arg457Thr VAR_007088
48 SERPINC1 p.Ala459Asp VAR_007090
49 SERPINC1 p.Pro461Leu VAR_007091 rs121909564
50 SERPINC1 p.Cys462Phe VAR_007092

Expression for Antithrombin Iii Deficiency

Search GEO for disease gene expression data for Antithrombin Iii Deficiency.

Pathways for Antithrombin Iii Deficiency

Pathways related to Antithrombin Iii Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Antithrombin Iii Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 SERPINC1 PLG PF4 JAK2 FGA F5
2
Show member pathways
12.39 SERPINC1 FGA F5 F2 F10
3
Show member pathways
11.94 PLG MTHFR F2
4 11.59 SERPINC1 PLG FGA F5 F2 F10
5
Show member pathways
11.37 SERPINC1 PLG PF4 FGA F5 F2
6 10.9 PLG F2
7 10.69 PLG F2
8 10.5 F2 F10

GO Terms for Antithrombin Iii Deficiency

Cellular components related to Antithrombin Iii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 SERPINC1 PLG PF4 FGA F5 F2
2 extracellular space GO:0005615 9.76 SERPINC1 PLG PF4 FGA F5 F2
3 endoplasmic reticulum lumen GO:0005788 9.65 SERPINC1 FGA F5 F2 F10
4 blood microparticle GO:0072562 9.62 SERPINC1 PLG FGA F2
5 platelet alpha granule GO:0031091 9.4 FGA F5
6 platelet alpha granule lumen GO:0031093 9.26 PLG PF4 FGA F5
7 collagen-containing extracellular matrix GO:0062023 9.1 SERPINC1 PLG PF4 FGA F2 APOH

Biological processes related to Antithrombin Iii Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.72 SERPINC1 PLG FGA F5 F2
2 ER to Golgi vesicle-mediated transport GO:0006888 9.69 F5 F2 F10
3 platelet activation GO:0030168 9.63 PF4 FGA F2
4 fibrinolysis GO:0042730 9.58 PLG FGA F2
5 platelet degranulation GO:0002576 9.55 PLG PF4 FGA F5 APOH
6 regulation of blood coagulation GO:0030193 9.54 SERPINC1 F2 APOH
7 blood coagulation GO:0007596 9.5 SERPINC1 PLG JAK2 FGA F5 F2
8 blood coagulation, intrinsic pathway GO:0007597 9.49 F2 APOH
9 positive regulation of blood coagulation GO:0030194 9.48 F2 APOH
10 plasminogen activation GO:0031639 9.43 FGA APOH
11 negative regulation of fibrinolysis GO:0051918 9.43 PLG F2 APOH
12 hemostasis GO:0007599 9.1 SERPINC1 PLG FGA F5 F2 F10

Molecular functions related to Antithrombin Iii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.43 PLG F2 F10
2 serine-type peptidase activity GO:0008236 9.33 PLG F2 F10
3 signaling receptor binding GO:0005102 9.26 PLG JAK2 FGA F2
4 heparin binding GO:0008201 8.92 SERPINC1 PF4 F2 APOH

Sources for Antithrombin Iii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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