MCID: THR104
MIFTS: 48

Thrombophilia Due to Antithrombin Iii Deficiency

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

Aliases & Classifications for Thrombophilia Due to Antithrombin Iii Deficiency

MalaCards integrated aliases for Thrombophilia Due to Antithrombin Iii Deficiency:

Name: Thrombophilia Due to Antithrombin Iii Deficiency 54 13
Antithrombin Iii Deficiency 12 71 29 52 42 14 69
Hereditary Thrombophilia Due to Congenital Antithrombin Deficiency 12 56
Antithrombin-Iii Deficiency 24 71
Hereditary Thrombophilia Due to Congenital Antithrombin 3 Deficiency 56
Thrombophilia Due to Antithrombin-Iii Deficiency 71
Antithrombin 3 Deficiency 71
Antithrombin Deficiency 71
at Iii Deficiency 12
at-Iii Deficiency 71
Antithrombin Iii 13
Thph7 71
At3d 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive


HPO:

32
thrombophilia due to antithrombin iii deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613118
Disease Ontology 12 DOID:3755
ICD10 33 D68.59
MeSH 42 D020152
NCIt 47 C98815
SNOMED-CT 64 36351005
Orphanet 56 ORPHA82
ICD10 via Orphanet 34 D68.5
MedGen 40 C0272375
UMLS 69 C0272375

Summaries for Thrombophilia Due to Antithrombin Iii Deficiency

OMIM : 54
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)

MalaCards based summary : Thrombophilia Due to Antithrombin Iii Deficiency, also known as antithrombin iii deficiency, is related to hereditary antithrombin deficiency and stoll alembik finck syndrome, and has symptoms including pulmonary embolism, deep venous thrombosis and cerebral venous thrombosis. An important gene associated with Thrombophilia Due to Antithrombin Iii Deficiency is SERPINC1 (Serpin Family C Member 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Dalteparin and Heparin have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotypes are homeostasis/metabolism and mortality/aging

UniProtKB/Swiss-Prot : 71 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.

Disease Ontology : 12 An inherited blood coagulation disease characterized by the tendency to form clots in the veins.

Wikipedia : 72 4EB1, 1ANT, 1ATH, 1AZX, 1BR8, 1DZG, 1DZH, 1E03, 1E04, 1E05, 1JVQ, 1LK6, 1NQ9, 1OYH, 1R1L, 1SR5, 1T1F,... more...

Related Diseases for Thrombophilia Due to Antithrombin Iii Deficiency

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

(show top 50) (show all 121)
id Related Disease Score Top Affiliating Genes
1 hereditary antithrombin deficiency 11.3
2 stoll alembik finck syndrome 10.4 F5 SERPINC1
3 multicentric osteolysis nephropathy 10.3 F5 MTHFR
4 mental retardation dysmorphism hypogonadism diabetes 10.3 F5 SERPINC1
5 coronary sinus stenosis 10.3 F5 MTHFR
6 amelogenesis imperfecta hypomaturation type 10.3 F5 MTHFR
7 pyridoxine deficiency anemia 10.3 F2 SERPINC1
8 fragile x syndrome type 2 10.3 F2 SERPINC1
9 myiasis 10.2 F2 SERPINC1
10 egg allergy 10.2 F2 SERPINC1
11 rectum neuroendocrine neoplasm 10.2 F2 SERPINC1
12 syndactyly, mesoaxial synostotic, with phalangeal reduction 10.2 F2 SERPINC1
13 variably protease-sensitive prionopathy 10.2 F2 F5
14 midline cystocele 10.2 F2 SERPINC1
15 littre gland carcinoma 10.2 F2 SERPINC1
16 pilomyxoid astrocytoma 10.2 F2 SERPINC1
17 inferolateral myocardial infarct 10.2 F2 SERPINC1
18 angelucci's syndrome 10.2 F2 SERPINC1
19 lethal congenital contracture syndrome 10.2 F2 SERPINC1
20 lujo hemorrhagic fever 10.2 F2 SERPINC1
21 bile duct cystadenoma 10.2 F2 F5
22 essential thrombocythemia 10.2 F2 SERPINC1
23 schizencephaly 10.2 F5 MTHFR
24 childhood brain stem glioma 10.2 F2 SERPINC1
25 facioscapulohumeral muscular dystrophy 1 10.2 F2 F5
26 porphyria 10.2 F2 MTHFR
27 hepadnavirus infection 10.1 F2 SERPINC1
28 factor v deficiency 10.1 F2 F5
29 inherited blood coagulation disease 10.1 F2 F5
30 irak4 deficiency 10.1 F2 F5
31 scapuloperoneal myopathy, x-linked dominant 10.1 F2 SERPINC1
32 acute lymphocytic leukemia 10.1 F2 F5
33 moderately severe hemophilia b 10.0 F2 F5
34 hemolytic-uremic syndrome 10.0 F2 SERPINC1
35 mcgillivray syndrome 10.0 APOH F5
36 accessory deep peroneal nerve 10.0 APOH F5
37 agenesis of the dorsal pancreas 10.0 F2 F5
38 pyelonephritis 9.9 F2 SERPINC1
39 primary cerebellar degeneration 9.9 F5 MTHFR SERPINC1
40 atrophic nonflaccid tympanic membrane 9.9 F2 F5
41 priapism 9.9 F5 MTHFR SERPINC1
42 mediastinum leiomyoma 9.9 F2 MTHFR
43 myxomatous pattern testicular yolk sac tumor 9.9 APOH F5
44 granulomatous hepatitis 9.9 F2 SERPINC1
45 testicular gonadoblastoma 9.9 F2 F5 SERPINC1
46 neuroaxonal dystrophy 9.9 F2 F5 SERPINC1
47 spinocerebellar ataxia 27 9.8 F2 F5 SERPINC1
48 otopalatodigital syndrome, type i 9.8 F2 F5 SERPINC1
49 brill-zinsser disease 9.8 F2 F5 SERPINC1
50 landau-kleffner syndrome 9.8 APOH F2

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



Diseases related to Thrombophilia Due to Antithrombin Iii Deficiency

Symptoms & Phenotypes for Thrombophilia Due to Antithrombin Iii Deficiency

Symptoms via clinical synopsis from OMIM:

54

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

Abdomen- Gastroin testinal:
mesenteric vein thrombosis

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

Respiratory- Lung:
pulmonary embolism

Neurologic- Central Nervous System:
cerebral vein thrombosis


Clinical features from OMIM:

613118

Human phenotypes related to Thrombophilia Due to Antithrombin Iii Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 pulmonary embolism 32 HP:0002204
2 deep venous thrombosis 32 HP:0002625
3 cerebral venous thrombosis 32 HP:0005305
4 recurrent thrombophlebitis 32 HP:0004419
5 reduced antithrombin iii activity 32 HP:0001976

MGI Mouse Phenotypes related to Thrombophilia Due to Antithrombin Iii Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 APOH F2 F5 MTHFR SERPINC1 SERPIND1
2 mortality/aging MP:0010768 9.1 APOH F2 F5 MTHFR SERPINC1 SERPIND1

Drugs & Therapeutics for Thrombophilia Due to Antithrombin Iii Deficiency

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

(show all 21)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4 9005-49-6
2
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
3
Benzocaine Approved Phase 4,Phase 3 1994-09-7, 94-09-7 2337
4 tannic acid Approved, Nutraceutical Phase 4,Phase 3
5 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
6 calcium heparin Phase 4
7 Fibrinolytic Agents Phase 4
8 Heparin, Low-Molecular-Weight Phase 4
9 Antithrombin III Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
10 Antithrombins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
11 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
13 Serine Proteinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Calcium, Dietary Phase 4
15 serine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16
Thrombin Approved Phase 2, Phase 3,Early Phase 1
17 Vaccines Phase 3
18 Coagulants Phase 2
19 Hemostatics Phase 2
20 Anesthetics Phase 2
21
Sulfamethazine Approved, Vet_approved 57-68-1 5327

Interventional clinical trials:

(show all 15)

id Name Status NCT ID Phase Drugs
1 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4 Enoxaparin
2 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4 Recombinant antithrombin (rhAT)
3 Atenativ Effect on Uterine Blood Flow and Preeclampsia Withdrawn NCT02278575 Phase 4 Atenativ
4 Pharmacokinetic Study of Recombinant AT III in Neonates Undergoing ECMO Withdrawn NCT01913444 Phase 4 Recombinant Antithrombin
5 Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery Completed NCT00110513 Phase 3
6 Assess Incidence of Deep Vein Thrombosis(DVT)Following Administration of Recombinant Human Antithrombin (rhAT) to Hereditary Antithrombin(AT) Deficient Patients in High Risk Situations. Completed NCT00056550 Phase 3
7 Safety, Pharmacokinetics and Efficacy of an AT-III Concentrate. Recruiting NCT00319228 Phase 2, Phase 3 Plasma-derived AT-III concentrate
8 Anti-thrombin III (ATIII) vs Placebo in Children (<7mo) Undergoing Open Congenital Cardiac Surgery Completed NCT02103114 Phase 2 Anti-thrombin III
9 Use of Antithrombin in Cardiac Surgery With Cardiopulmonary Bypass Completed NCT00823082 Phase 2 Antithrombin III
10 A Study of KW-3357 in Congenital Antithrombin Deficiency Completed NCT00938288 Phase 1 KW-3357
11 Evaluation Of The Pharmacokinetics Of Antithrombin III In Neonates And Infants Undergoing CPB And ECMO Support Recruiting NCT02631174 Phase 1 Antithrombin III
12 Effects of Combined Resistance and Aerobic Training vs Aerobic Training on Cognition and Mobility Following Stroke Completed NCT01712724
13 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" Recruiting NCT02503267
14 The 3D Reconstruction Research of Pelvic Organ Prolapse Disease Recruiting NCT03146195
15 Response of Continuous Recombinant Antithrombin Infusion in Postcardiotomy ECMO Patients Not yet recruiting NCT03090893 Early Phase 1 ATryn continuous infusion

Search NIH Clinical Center for Thrombophilia Due to Antithrombin Iii Deficiency

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: antithrombin iii deficiency

Genetic Tests for Thrombophilia Due to Antithrombin Iii Deficiency

Genetic tests related to Thrombophilia Due to Antithrombin Iii Deficiency:

id Genetic test Affiliating Genes
1 Antithrombin Iii Deficiency 29
2 Antithrombin-Iii Deficiency 24 SERPINC1

Anatomical Context for Thrombophilia Due to Antithrombin Iii Deficiency

MalaCards organs/tissues related to Thrombophilia Due to Antithrombin Iii Deficiency:

39
Bone, Heart

Publications for Thrombophilia Due to Antithrombin Iii Deficiency

Variations for Thrombophilia Due to Antithrombin Iii Deficiency

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

71 (show top 50) (show all 84)
id 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
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
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 rs28930978
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
42 SERPINC1 p.Arg438Met VAR_007083
43 SERPINC1 p.Pro439Leu VAR_007084 rs121909555
44 SERPINC1 p.Pro439Thr VAR_007085
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

ClinVar genetic disease variations for Thrombophilia Due to Antithrombin Iii Deficiency:

6 (show all 42)
id Gene Variation Type Significance SNP ID Assembly Location
1 SERPINC1 AT-III Trento undetermined variant Pathogenic
2 SERPINC1 NM_000488.3(SERPINC1): c.1306G> A (p.Ala436Thr) single nucleotide variant Pathogenic rs121909546 GRCh37 Chromosome 1, 173873116: 173873116
3 SERPINC1 NM_000488.3(SERPINC1): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs121909547 GRCh37 Chromosome 1, 173883864: 173883864
4 SERPINC1 AT-III Roma undetermined variant Pathogenic
5 SERPINC1 NM_000488.3(SERPINC1): c.1246G> C (p.Ala416Pro) single nucleotide variant Pathogenic rs121909548 GRCh37 Chromosome 1, 173873176: 173873176
6 SERPINC1 AT-III Fontainebleu undetermined variant Pathogenic
7 SERPINC1 NM_000488.3(SERPINC1): c.1274G> C (p.Arg425Pro) single nucleotide variant Pathogenic rs121909549 GRCh37 Chromosome 1, 173873148: 173873148
8 SERPINC1 NM_000488.3(SERPINC1): c.1277C> T (p.Ser426Leu) single nucleotide variant Pathogenic rs121909550 GRCh37 Chromosome 1, 173873145: 173873145
9 SERPINC1 AT-III Barcelona undetermined variant Pathogenic
10 SERPINC1 NM_000488.3(SERPINC1): c.235C> A (p.Arg79Ser) single nucleotide variant Pathogenic rs121909547 GRCh37 Chromosome 1, 173883864: 173883864
11 SERPINC1 NM_000488.3(SERPINC1): c.1273C> T (p.Arg425Cys) single nucleotide variant Pathogenic rs121909554 GRCh37 Chromosome 1, 173873149: 173873149
12 SERPINC1 NM_000488.3(SERPINC1): c.1316C> T (p.Pro439Leu) single nucleotide variant Pathogenic rs121909555 GRCh37 Chromosome 1, 173873106: 173873106
13 SERPINC1 NM_000488.3(SERPINC1): c.1274G> A (p.Arg425His) single nucleotide variant Pathogenic rs121909549 GRCh37 Chromosome 1, 173873148: 173873148
14 SERPINC1 NM_000488.3(SERPINC1): c.1240G> A (p.Ala414Thr) single nucleotide variant Pathogenic rs121909557 GRCh37 Chromosome 1, 173873182: 173873182
15 SERPINC1 NM_000488.3(SERPINC1): c.116T> A (p.Ile39Asn) single nucleotide variant Pathogenic rs121909558 GRCh37 Chromosome 1, 173883983: 173883983
16 SERPINC1 NM_000488.3(SERPINC1): c.166C> T (p.Arg56Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28929469 GRCh37 Chromosome 1, 173883933: 173883933
17 SERPINC1 SERPINC1, 1-BP DEL, A deletion Pathogenic
18 SERPINC1 SERPINC1, 2-BP DEL, AG deletion Pathogenic
19 SERPINC1 SERPINC1, 1-BP INS, 780A insertion Pathogenic
20 SERPINC1 NM_000488.3(SERPINC1): c.967_968delAG (p.Ser323Profs) deletion Pathogenic rs121909560 GRCh37 Chromosome 1, 173878875: 173878876
21 SERPINC1 NM_000488.3(SERPINC1): c.1021_1024delGATG (p.Asp341Asnfs) deletion Pathogenic rs121909561 GRCh37 Chromosome 1, 173878819: 173878822
22 SERPINC1 NM_000488.3(SERPINC1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs121909562 GRCh37 Chromosome 1, 173881080: 173881080
23 SERPINC1 NM_000488.3(SERPINC1): c.1382C> T (p.Pro461Leu) single nucleotide variant Pathogenic rs121909564 GRCh37 Chromosome 1, 173873040: 173873040
24 SERPINC1 NM_000488.3(SERPINC1): c.1141T> C (p.Ser381Pro) single nucleotide variant Pathogenic rs121909565 GRCh37 Chromosome 1, 173878702: 173878702
25 SERPINC1 NM_000488.3(SERPINC1): c.1271G> A (p.Gly424Asp) single nucleotide variant Pathogenic rs121909566 GRCh37 Chromosome 1, 173873151: 173873151
26 SERPINC1 NM_000488.3(SERPINC1): c.391C> T (p.Leu131Phe) single nucleotide variant Pathogenic rs121909567 GRCh37 Chromosome 1, 173883708: 173883708
27 SERPINC1 SERPINC1, 1-BP INS, T, CODON 48 insertion Pathogenic
28 SERPINC1 SERPINC1, 1-BP INS, A, CODON 208 insertion Pathogenic
29 SERPINC1 SERPINC1, 1-BP DEL, A, CODON 370 deletion Pathogenic
30 SERPINC1 NM_000488.3(SERPINC1): c.442T> C (p.Ser148Pro) single nucleotide variant Pathogenic rs121909569 GRCh37 Chromosome 1, 173881119: 173881119
31 SERPINC1 NM_000488.3(SERPINC1): c.68T> C (p.Leu23Pro) single nucleotide variant Pathogenic rs387906575 GRCh37 Chromosome 1, 173884031: 173884031
32 SERPINC1 NM_000488.3(SERPINC1): c.500A> C (p.Asn167Thr) single nucleotide variant Pathogenic rs121909570 GRCh37 Chromosome 1, 173881061: 173881061
33 SERPINC1 NM_000488.3(SERPINC1): c.655A> G (p.Asn219Asp) single nucleotide variant Pathogenic rs121909571 GRCh37 Chromosome 1, 173879999: 173879999
34 SERPINC1 NM_000488.3(SERPINC1): c.667T> C (p.Ser223Pro) single nucleotide variant Pathogenic rs121909572 GRCh37 Chromosome 1, 173879987: 173879987
35 SERPINC1 NM_000488.3(SERPINC1): c.379T> C (p.Cys127Arg) single nucleotide variant Pathogenic rs121909573 GRCh37 Chromosome 1, 173883720: 173883720
36 SERPINC1 SERPINC1, 3-BP DEL deletion Pathogenic
37 SERPINC1 SERPINC1, 9-BP DEL, NT13395 deletion Pathogenic
38 SERPINC1 NM_000488.3(SERPINC1): c.462_464delCTT (p.Phe155del) deletion Pathogenic rs786204063 GRCh37 Chromosome 1, 173881097: 173881099
39 SERPINC1 NM_000488.3(SERPINC1): c.1060delC (p.Arg354Alafs) deletion Pathogenic rs863224495 GRCh37 Chromosome 1, 173878783: 173878783
40 SERPINC1 NM_000488.3(SERPINC1): c.662G> C (p.Trp221Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 173910854: 173910854
41 SERPINC1 NC_000001.11: g.(?_173903804)_(173917378_?)del deletion Pathogenic GRCh37 Chromosome 1, 173872942: 173886516
42 SERPINC1 NM_000488.3(SERPINC1): c.1154-14G> A single nucleotide variant Likely pathogenic rs542881762 GRCh38 Chromosome 1, 173907528: 173907528

Expression for Thrombophilia Due to Antithrombin Iii Deficiency

Search GEO for disease gene expression data for Thrombophilia Due to Antithrombin Iii Deficiency.

Pathways for Thrombophilia Due to Antithrombin Iii Deficiency

GO Terms for Thrombophilia Due to Antithrombin Iii Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.55 APOH F2 F5 SERPINC1 SERPIND1
2 extracellular space GO:0005615 9.35 APOH F2 F5 SERPINC1 SERPIND1
3 endoplasmic reticulum lumen GO:0005788 8.92 F2 F5 SERPINC1 SERPIND1

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

id Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.63 F5 SERPINC1 SERPIND1
2 cellular protein metabolic process GO:0044267 9.56 F2 F5 SERPINC1 SERPIND1
3 blood coagulation GO:0007596 9.46 F2 F5 SERPINC1 SERPIND1
4 blood circulation GO:0008015 9.43 F5 MTHFR
5 blood coagulation, intrinsic pathway GO:0007597 9.4 APOH F2
6 positive regulation of blood coagulation GO:0030194 9.37 APOH F2
7 negative regulation of fibrinolysis GO:0051918 9.32 APOH F2
8 regulation of blood coagulation GO:0030193 9.13 APOH F2 SERPINC1
9 hemostasis GO:0007599 8.92 F2 F5 SERPINC1 SERPIND1

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

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase inhibitor activity GO:0004867 8.96 SERPINC1 SERPIND1
2 heparin binding GO:0008201 8.92 APOH F2 SERPINC1 SERPIND1

Sources for Thrombophilia Due to Antithrombin Iii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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