MCID: HPR006
MIFTS: 29

Heparin Cofactor Ii Deficiency

Categories: Genetic diseases, Immune diseases, Blood diseases

Aliases & Classifications for Heparin Cofactor Ii Deficiency

MalaCards integrated aliases for Heparin Cofactor Ii Deficiency:

Name: Heparin Cofactor Ii Deficiency 57 75 29 6 40 73
Thrombophilia Due to Heparin Cofactor Ii Deficiency 57 13
Thph10 57 75
Thrombophilia Due to Heparin Cofactor Ii Deficiency; Thph10 57
Thrombophilia Due to Heparin Cofactor 2 Deficiency 75
Heparin Cofactor Ii 13
Hcf Ii Deficiency 57
Hcf2 Deficiency 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
heparin cofactor ii deficiency:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612356
MedGen 42 C0398626
MeSH 44 D019851
ICD10 33 D68.5
SNOMED-CT via HPO 69 263681008 710167004 67406007
UMLS 73 C0398626

Summaries for Heparin Cofactor Ii Deficiency

OMIM : 57 Heparin cofactor II (HCF2; 142360) rapidly inhibits thrombin in plasma in the presence of dermatan sulfate or heparin. Congenital HCF2 deficiency is associated with thromboembolism and is classified into type I (quantitative) or type II (qualitative) deficiency (Kondo et al., 1996). (612356)

MalaCards based summary : Heparin Cofactor Ii Deficiency, also known as thrombophilia due to heparin cofactor ii deficiency, is related to thrombosis and thrombophilia due to thrombin defect. An important gene associated with Heparin Cofactor Ii Deficiency is SERPIND1 (Serpin Family D Member 1). Affiliated tissues include liver, and related phenotypes are post-angioplasty coronary artery restenosis and recurrent deep vein thrombosis

UniProtKB/Swiss-Prot : 75 Thrombophilia due to heparin cofactor 2 deficiency: A hemostatic disorder characterized by a tendency to recurrent thrombosis.

Wikipedia : 76 Heparin cofactor II (HCII), a protein encoded by the SERPIND1 gene, is a coagulation factor that... more...

Related Diseases for Heparin Cofactor Ii Deficiency

Diseases related to Heparin Cofactor Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 thrombosis 10.3
2 thrombophilia due to thrombin defect 10.0
3 type i 10.0
4 arteries, anomalies of 9.9
5 supernumerary der(22)t(8 9.9
6 infantile liver failure syndrome 1 9.9
7 coronary artery anomaly 9.9
8 retinal vein occlusion 9.9
9 central retinal vein occlusion 9.9
10 retinitis 9.9
11 velocardiofacial syndrome 9.0 PI4KA PRODH

Graphical network of the top 20 diseases related to Heparin Cofactor Ii Deficiency:



Diseases related to Heparin Cofactor Ii Deficiency

Symptoms & Phenotypes for Heparin Cofactor Ii Deficiency

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
post-angioplasty coronary artery restenosis
disseminated intravascular coagulation
intracranial thrombosis
recurrent deep vein thrombosis

Laboratory Abnormalities:
heparin cofactor ii deficiency


Clinical features from OMIM:

612356

Human phenotypes related to Heparin Cofactor Ii Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 post-angioplasty coronary artery restenosis 32 HP:0004761
2 recurrent deep vein thrombosis 32 HP:0004850
3 disseminated intravascular coagulation 32 HP:0005521

GenomeRNAi Phenotypes related to Heparin Cofactor Ii Deficiency according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.53 PI4KA
2 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.53 PRODH
3 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.53 PRODH
4 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.53 PRODH
5 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.53 PRODH
6 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.53 PRODH PI4KA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.53 PRODH
8 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.53 PRODH
9 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.53 PI4KA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.53 PRODH
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.53 PI4KA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.53 PRODH
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.53 PI4KA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.53 PRODH
15 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.53 PRODH

Drugs & Therapeutics for Heparin Cofactor Ii Deficiency

Search Clinical Trials , NIH Clinical Center for Heparin Cofactor Ii Deficiency

Genetic Tests for Heparin Cofactor Ii Deficiency

Genetic tests related to Heparin Cofactor Ii Deficiency:

# Genetic test Affiliating Genes
1 Heparin Cofactor Ii Deficiency 29 SERPIND1

Anatomical Context for Heparin Cofactor Ii Deficiency

MalaCards organs/tissues related to Heparin Cofactor Ii Deficiency:

41
Liver

Publications for Heparin Cofactor Ii Deficiency

Articles related to Heparin Cofactor Ii Deficiency:

(show all 15)
# Title Authors Year
1
Heparin cofactor II deficiency. ( 12421148 )
2002
2
Hereditary homozygous heparin cofactor II deficiency and the risk of developing venous thrombosis. ( 10494755 )
1999
3
Heparin cofactor II deficiency in central retinal vein occlusion. ( 9881572 )
1998
4
Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. ( 8803768 )
1996
5
Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji). ( 8562924 )
1996
6
Prevalence of heparin cofactor II deficiency in patients with a history of venous thrombosis. ( 9112638 )
1996
7
Heparin cofactor II deficiency in patients infected with the human immunodeficiency virus. ( 8128426 )
1993
8
Hereditary heparin cofactor II deficiency and coronary artery disease. ( 1615493 )
1992
9
Lack of correction of acquired heparin cofactor II deficiency in patients with liver failure after successful orthotopic liver transplantation. ( 1412172 )
1992
10
Heparin cofactor II deficiency in the elderly: comparison with antithrombin III. ( 1381849 )
1992
11
Heparin cofactor II deficiency in renal allograft recipients: no correlation with the development of thrombosis. ( 2024235 )
1991
12
Hereditary heparin cofactor II deficiency and thrombosis: report of six patients belonging to two separate kindreds. ( 2133211 )
1990
13
Laboratory diagnosis of antithrombin and heparin cofactor II deficiency. ( 2191430 )
1990
14
Hereditary heparin cofactor II deficiency and the risk of development of thrombosis. ( 3603411 )
1987
15
Methodology and clinical significance of heparin cofactor II. Probable heparin cofactor II deficiency in a patient with cerebrovascular thrombosis. ( 3840916 )
1985

Variations for Heparin Cofactor Ii Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Heparin Cofactor Ii Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 SERPIND1 p.Arg208His VAR_007112 rs5907
2 SERPIND1 p.Glu447Lys VAR_054977 rs142451096
3 SERPIND1 p.Pro462Leu VAR_054978 rs121912420

ClinVar genetic disease variations for Heparin Cofactor Ii Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPIND1 NM_000185.3(SERPIND1): c.623G> A (p.Arg208His) single nucleotide variant Pathogenic rs5907 GRCh37 Chromosome 22, 21134223: 21134223
2 SERPIND1 NM_000185.3(SERPIND1): c.623G> A (p.Arg208His) single nucleotide variant Pathogenic rs5907 GRCh38 Chromosome 22, 20779935: 20779935
3 SERPIND1 NM_000185.3(SERPIND1): c.321dupT (p.Val108Cysfs) duplication Pathogenic rs587777759 GRCh38 Chromosome 22, 20779633: 20779633
4 SERPIND1 NM_000185.3(SERPIND1): c.321dupT (p.Val108Cysfs) duplication Pathogenic rs587777759 GRCh37 Chromosome 22, 21133921: 21133921
5 SERPIND1 NM_000185.3(SERPIND1): c.1429_1430delTT (p.Phe477Profs) deletion Pathogenic rs587777760 GRCh38 Chromosome 22, 20786995: 20786996
6 SERPIND1 NM_000185.3(SERPIND1): c.1429_1430delTT (p.Phe477Profs) deletion Pathogenic rs587777760 GRCh37 Chromosome 22, 21141283: 21141284
7 SERPIND1 NM_000185.3(SERPIND1): c.1385C> T (p.Pro462Leu) single nucleotide variant Pathogenic rs121912420 GRCh37 Chromosome 22, 21141239: 21141239
8 SERPIND1 NM_000185.3(SERPIND1): c.1385C> T (p.Pro462Leu) single nucleotide variant Pathogenic rs121912420 GRCh38 Chromosome 22, 20786951: 20786951

Expression for Heparin Cofactor Ii Deficiency

Search GEO for disease gene expression data for Heparin Cofactor Ii Deficiency.

Pathways for Heparin Cofactor Ii Deficiency

GO Terms for Heparin Cofactor Ii Deficiency

Sources for Heparin Cofactor Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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