MCID: THR104
MIFTS: 38

Thrombophilia Due to Antithrombin Iii Deficiency malady

Genetic diseases, Bone diseases, Blood diseases, Rare diseases categories

Summaries for Thrombophilia Due to Antithrombin Iii Deficiency

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OMIM:45 Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. Two categories of AT-III... (613118) more...

MalaCards based summary: Thrombophilia Due to Antithrombin Iii Deficiency, also known as antithrombin iii deficiency, is related to nephrotic syndrome and pulmonary embolism, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and reduced antithrombin iii activity. An important gene associated with Thrombophilia Due to Antithrombin Iii Deficiency is SERPINC1 (serpin peptidase inhibitor, clade C (antithrombin), member 1). The drugs antithrombin iii, human and antithrombin iii,recombinant have been mentioned in the context of this disorder. Affiliated tissues include bone.

Disease Ontology:9 An inherited blood coagulation disease characterized by the tendency to form clots in the veins.

Aliases & Classifications for Thrombophilia Due to Antithrombin Iii Deficiency

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 20GeneTests, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 27ICD9CM, 26ICD10 via Orphanet
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Thrombophilia Due to Antithrombin Iii Deficiency, Aliases & Descriptions:

Name: Thrombophilia Due to Antithrombin Iii Deficiency 45 10
Antithrombin Iii Deficiency 45 9 11 43 60
Antithrombin Iii 10 20 22
 
Hereditary Thrombophilia Due to Congenital Antithrombin Deficiency 9 47
Hereditary Thrombophilia Due to Congenital Antithrombin 3 Deficiency 47
at Iii Deficiency 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases, Blood diseases


External Ids:

OMIM45 613118
Disease Ontology9 DOID:3755
MeSH33 D020152
SNOMED-CT55 36351005
ICD9CM27 289.81
Orphanet47 82
ICD10 via Orphanet26 D68.5

Related Diseases for Thrombophilia Due to Antithrombin Iii Deficiency

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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 for Thrombophilia Due to Antithrombin Iii Deficiency

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Symptoms by clinical synopsis from OMIM:

613118

Clinical features from OMIM:

613118

HPO human phenotypes related to Thrombophilia Due to Antithrombin Iii Deficiency:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 reduced antithrombin iii activity HP:0001976
4 pulmonary embolism HP:0002204
5 deep venous thrombosis HP:0002625
6 cerebral venous thrombosis HP:0005305

Drugs & Therapeutics for Thrombophilia Due to Antithrombin Iii Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for Thrombophilia Due to Antithrombin Iii Deficiency

Inferred drug relations via UMLS60/NDF-RT39:

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Genetic Tests for Thrombophilia Due to Antithrombin Iii Deficiency

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Genetic tests related to Thrombophilia Due to Antithrombin Iii Deficiency:

id Genetic test Affiliating Genes
1 Antithrombin-Iii Deficiency20 SERPINC1
2 Antithrombin Iii Deficiency22

Anatomical Context for Thrombophilia Due to Antithrombin Iii Deficiency

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

31
Bone

Animal Models for Thrombophilia Due to Antithrombin Iii Deficiency or affiliated genes

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Publications for Thrombophilia Due to Antithrombin Iii Deficiency

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Variations for Thrombophilia Due to Antithrombin Iii Deficiency

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

62 (show all 84)
id Symbol AA change Variation ID SNP ID
1SERPINC1p.Ile39AsnVAR_007033rs28929468
2SERPINC1p.Arg56CysVAR_007035rs28929469
3SERPINC1p.Pro73LeuVAR_007036rs121909551
4SERPINC1p.Arg79CysVAR_007037
5SERPINC1p.Arg79HisVAR_007038rs121909552
6SERPINC1p.Arg79SerVAR_007039
7SERPINC1p.Arg89CysVAR_007041rs147266200
8SERPINC1p.Phe90LeuVAR_007042
9SERPINC1p.Pro112ThrVAR_007044
10SERPINC1p.Leu131PheVAR_007045
11SERPINC1p.Leu131ValVAR_007046
12SERPINC1p.Gln133LysVAR_007047
13SERPINC1p.Ser148ProVAR_007049
14SERPINC1p.Gln150ProVAR_007050
15SERPINC1p.His152TyrVAR_007051
16SERPINC1p.Leu158ProVAR_007053
17SERPINC1p.Arg161GlnVAR_007054
18SERPINC1p.Tyr198CysVAR_007056
19SERPINC1p.Ser214TyrVAR_007057
20SERPINC1p.Asn219LysVAR_007058
21SERPINC1p.Asn219AspVAR_007059
22SERPINC1p.Glu269LysVAR_007060
23SERPINC1p.Met283IleVAR_007062
24SERPINC1p.Leu302ProVAR_007063
25SERPINC1p.Ile316AsnVAR_007064
26SERPINC1p.Glu334LysVAR_007065
27SERPINC1p.Ser381ProVAR_007067
28SERPINC1p.Ala414ThrVAR_007069
29SERPINC1p.Ala416ProVAR_007070rs28930978
30SERPINC1p.Ala416SerVAR_007071rs121909548
31SERPINC1p.Ala419ValVAR_007072
32SERPINC1p.Gly424AspVAR_007073
33SERPINC1p.Arg425HisVAR_007074
34SERPINC1p.Arg425CysVAR_007075rs121909554
35SERPINC1p.Arg425ProVAR_007076
36SERPINC1p.Ser426LeuVAR_007077
37SERPINC1p.Phe434CysVAR_007078
38SERPINC1p.Phe434SerVAR_007079
39SERPINC1p.Phe434LeuVAR_007080
40SERPINC1p.Ala436ThrVAR_007081
41SERPINC1p.Asn437LysVAR_007082
42SERPINC1p.Arg438MetVAR_007083
43SERPINC1p.Pro439LeuVAR_007084
44SERPINC1p.Pro439ThrVAR_007085
45SERPINC1p.Ile453ThrVAR_007086
46SERPINC1p.Gly456ArgVAR_007087
47SERPINC1p.Arg457ThrVAR_007088
48SERPINC1p.Ala459AspVAR_007090
49SERPINC1p.Pro461LeuVAR_007091
50SERPINC1p.Cys462PheVAR_007092
51SERPINC1p.Arg438GlyVAR_009258
52SERPINC1p.Tyr95SerVAR_012316
53SERPINC1p.Leu23ProVAR_012748
54SERPINC1p.Tyr17SerVAR_027450
55SERPINC1p.Cys32ArgVAR_027451
56SERPINC1p.Tyr95CysVAR_027452
57SERPINC1p.Leu98ProVAR_027453
58SERPINC1p.Met121LysVAR_027454
59SERPINC1p.Cys127ArgVAR_027455
60SERPINC1p.Lys146GluVAR_027456
61SERPINC1p.Cys160TyrVAR_027457
62SERPINC1p.Leu178HisVAR_027458
63SERPINC1p.Phe179LeuVAR_027459
64SERPINC1p.Tyr198HisVAR_027460
65SERPINC1p.Ser214PheVAR_027461
66SERPINC1p.Ser223ProVAR_027463
67SERPINC1p.Thr243IleVAR_027464
68SERPINC1p.Ile251ThrVAR_027465
69SERPINC1p.Trp257ArgVAR_027466
70SERPINC1p.Phe261LeuVAR_027467
71SERPINC1p.Met283ValVAR_027468
72SERPINC1p.Ser323ProVAR_027469
73SERPINC1p.Ser397ProVAR_027470
74SERPINC1p.Asp398HisVAR_027471
75SERPINC1p.Ser412ArgVAR_027472
76SERPINC1p.Leu441ProVAR_027473
77SERPINC1p.Cys53PheVAR_071199
78SERPINC1p.Gly125AspVAR_071200
79SERPINC1p.Ser170ProVAR_071201
80SERPINC1p.Ile218AsnVAR_071202
81SERPINC1p.Val248GlyVAR_071203
82SERPINC1p.Arg293ProVAR_071204
83SERPINC1p.His401ArgVAR_071205
84SERPINC1p.Pro439AlaVAR_071206

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

6 (show all 43)
id Gene Variation Type Significance SNP ID Assembly Location
1SERPINC1NM_000488.3(SERPINC1): c.1306G> A (p.Ala436Thr)single nucleotide variantPathogenicrs121909546GRCh37Chr 1, 173873116: 173873116
2SERPINC1NM_000488.3(SERPINC1): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs121909547GRCh37Chr 1, 173883864: 173883864
3SERPINC1SERPINC1undetermined variantPathogenic
4SERPINC1SERPINC1undetermined variantPathogenic
5SERPINC1NM_000488.3(SERPINC1): c.1246G> C (p.Ala416Pro)single nucleotide variantPathogenicrs121909548GRCh37Chr 1, 173873176: 173873176
6SERPINC1SERPINC1undetermined variantPathogenic
7SERPINC1NM_000488.3(SERPINC1): c.1274G> C (p.Arg425Pro)single nucleotide variantPathogenicrs121909549GRCh37Chr 1, 173873148: 173873148
8SERPINC1NM_000488.3(SERPINC1): c.1277C> T (p.Ser426Leu)single nucleotide variantPathogenicrs121909550GRCh37Chr 1, 173873145: 173873145
9SERPINC1NM_000488.3(SERPINC1): c.218C> T (p.Pro73Leu)single nucleotide variantPathogenicrs121909551GRCh37Chr 1, 173883881: 173883881
10SERPINC1NM_000488.3(SERPINC1): c.89T> A (p.Val30Glu)single nucleotide variantPathogenicrs2227624GRCh37Chr 1, 173884010: 173884010
11SERPINC1SERPINC1undetermined variantPathogenic
12SERPINC1NM_000488.3(SERPINC1): c.236G> A (p.Arg79His)single nucleotide variantPathogenicrs121909552GRCh37Chr 1, 173883863: 173883863
13SERPINC1NM_000488.3(SERPINC1): c.235C> A (p.Arg79Ser)single nucleotide variantPathogenicrs121909547GRCh37Chr 1, 173883864: 173883864
14SERPINC1NM_000488.3(SERPINC1): c.1273C> T (p.Arg425Cys)single nucleotide variantPathogenicrs121909554GRCh37Chr 1, 173873149: 173873149
15SERPINC1NM_000488.3(SERPINC1): c.1316C> T (p.Pro439Leu)single nucleotide variantPathogenicrs121909555GRCh37Chr 1, 173873106: 173873106
16SERPINC1NM_000488.3(SERPINC1): c.1274G> A (p.Arg425His)single nucleotide variantPathogenicrs121909549GRCh37Chr 1, 173873148: 173873148
17SERPINC1NM_000488.3(SERPINC1): c.1240G> A (p.Ala414Thr)single nucleotide variantPathogenicrs121909557GRCh37Chr 1, 173873182: 173873182
18SERPINC1NM_000488.3(SERPINC1): c.116T> A (p.Ile39Asn)single nucleotide variantPathogenicrs121909558GRCh37Chr 1, 173883983: 173883983
19SERPINC1NM_000488.3(SERPINC1): c.166C> T (p.Arg56Cys)single nucleotide variantPathogenicrs28929469GRCh37Chr 1, 173883933: 173883933
20SERPINC1SERPINC1, ALA384SERsingle nucleotide variantPathogenicrs121909548GRCh37Chr 1, 173873176: 173873176
21SERPINC1SERPINC1, 1-BP DEL, AdeletionPathogenic
22SERPINC1SERPINC1, 2-BP DEL, AGdeletionPathogenic
23SERPINC1SERPINC1, 1-BP INS, 780AinsertionPathogenic
24SERPINC1NM_000488.3(SERPINC1): c.967_968delAG (p.Ser323Profs)deletionPathogenicrs121909560GRCh37Chr 1, 173878875: 173878876
25SERPINC1NM_000488.3(SERPINC1): c.1021_1024delGATG (p.Asp341Asnfs)deletionPathogenicrs121909561GRCh37Chr 1, 173878819: 173878822
26SERPINC1NM_000488.3(SERPINC1): c.481C> T (p.Arg161Ter)single nucleotide variantPathogenicrs121909562GRCh37Chr 1, 173881080: 173881080
27SERPINC1NM_000488.3(SERPINC1): c.482G> A (p.Arg161Gln)single nucleotide variantPathogenicrs121909563GRCh37Chr 1, 173881079: 173881079
28SERPINC1NM_000488.3(SERPINC1): c.1382C> T (p.Pro461Leu)single nucleotide variantPathogenicrs121909564GRCh37Chr 1, 173873040: 173873040
29SERPINC1NM_000488.3(SERPINC1): c.1141T> C (p.Ser381Pro)single nucleotide variantPathogenicrs121909565GRCh37Chr 1, 173878702: 173878702
30SERPINC1NM_000488.3(SERPINC1): c.1271G> A (p.Gly424Asp)single nucleotide variantPathogenicrs121909566GRCh37Chr 1, 173873151: 173873151
31SERPINC1NM_000488.3(SERPINC1): c.391C> T (p.Leu131Phe)single nucleotide variantPathogenicrs121909567GRCh37Chr 1, 173883708: 173883708
32SERPINC1SERPINC1, 1-BP INS, T, CODON 48insertionPathogenic
33SERPINC1SERPINC1, 1-BP INS, A, CODON 208insertionPathogenic
34SERPINC1SERPINC1, 1-BP DEL, A, CODON 370deletionPathogenic
35SERPINC1NM_000488.3(SERPINC1): c.1256C> T (p.Ala419Val)single nucleotide variantPathogenicrs121909568GRCh37Chr 1, 173873166: 173873166
36SERPINC1NM_000488.3(SERPINC1): c.442T> C (p.Ser148Pro)single nucleotide variantPathogenicrs121909569GRCh37Chr 1, 173881119: 173881119
37SERPINC1NM_000488.3(SERPINC1): c.68T> C (p.Leu23Pro)single nucleotide variantPathogenicrs387906575GRCh37Chr 1, 173884031: 173884031
38SERPINC1NM_000488.3(SERPINC1): c.500A> C (p.Asn167Thr)single nucleotide variantPathogenicrs121909570GRCh37Chr 1, 173881061: 173881061
39SERPINC1NM_000488.3(SERPINC1): c.655A> G (p.Asn219Asp)single nucleotide variantPathogenicrs121909571GRCh37Chr 1, 173879999: 173879999
40SERPINC1NM_000488.3(SERPINC1): c.667T> C (p.Ser223Pro)single nucleotide variantPathogenicrs121909572GRCh37Chr 1, 173879987: 173879987
41SERPINC1NM_000488.3(SERPINC1): c.379T> C (p.Cys127Arg)single nucleotide variantPathogenicrs121909573GRCh37Chr 1, 173883720: 173883720
42SERPINC1SERPINC1, 3-BP DELdeletionPathogenic
43SERPINC1SERPINC1, 9-BP DEL, NT13395deletionPathogenic

Expression for genes affiliated with Thrombophilia Due to Antithrombin Iii Deficiency

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

Pathways for genes affiliated with Thrombophilia Due to Antithrombin Iii Deficiency

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Compounds for genes affiliated with Thrombophilia Due to Antithrombin Iii Deficiency

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GO Terms for genes affiliated with Thrombophilia Due to Antithrombin Iii Deficiency

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Products for genes affiliated with Thrombophilia Due to Antithrombin Iii Deficiency

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Sources for Thrombophilia Due to Antithrombin Iii Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet