THPH10
MCID: HPR006
MIFTS: 37

Heparin Cofactor Ii Deficiency (THPH10)

Categories: Blood diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Heparin Cofactor Ii Deficiency

MalaCards integrated aliases for Heparin Cofactor Ii Deficiency:

Name: Heparin Cofactor Ii Deficiency 57 12 72 29 6 44 15 39 70
Thrombophilia Due to Heparin Cofactor Ii Deficiency 57 12 13
Thph10 57 12 72
Hcf Ii Deficiency 57 12
Thrombophilia Due to Heparin Cofactor Ii Deficiency; Thph10 57
Thrombophilia Due to Heparin Cofactor 2 Deficiency 72
Hcf 2 Deficiency 12
Hcf2 Deficiency 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
heparin cofactor ii deficiency:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111901
OMIM® 57 612356
OMIM Phenotypic Series 57 PS188050
SNOMED-CT 67 234468009
MedGen 41 C0398626
SNOMED-CT via HPO 68 263681008 67406007 710167004
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Heparin Cofactor Ii Deficiency, also known as thrombophilia due to heparin cofactor ii deficiency, is related to thrombophlebitis and thrombosis. An important gene associated with Heparin Cofactor Ii Deficiency is SERPIND1 (Serpin Family D Member 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include liver, and related phenotypes are disseminated intravascular coagulation and recurrent deep vein thrombosis

Disease Ontology : 12 A thrombophilia characterized by increased risk of thromboembolism that has material basis in heterozygous mutation in HCF2 on chromosome 22q11.21.

UniProtKB/Swiss-Prot : 72 Thrombophilia due to heparin cofactor 2 deficiency: A hemostatic disorder characterized by a tendency to recurrent thrombosis.

Wikipedia : 73 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 top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 thrombophlebitis 29.9 SERPINC1 PLG
2 thrombosis 29.8 SERPIND1 SERPINC1 PLG
3 thrombophilia 10.3
4 voyeurism 10.2 SERPINA3 PRODH
5 thrombophilia due to thrombin defect 10.2
6 angina pectoris 10.2
7 van den ende-gupta syndrome 10.2 PRODH PI4KA
8 platelet aggregation, spontaneous 10.2 SERPINC1 SERPINA3
9 gamma-amino butyric acid metabolism disorder 10.2 SERPINA3 PRODH
10 splenic infarction 10.2 SERPINC1 SERPINA3
11 intestinal perforation 10.2 SERPINA3 PRODH
12 dysfibrinogenemia, congenital 10.2 SERPIND1 SERPINC1
13 phobic disorder 10.2 SERPINA3 PRODH
14 papilledema 10.1 SERPINC1 SERPINA3
15 chromosome 6q24-q25 deletion syndrome 10.1 PRODH AIFM3
16 fatal familial insomnia 10.1 SERPINA3 PRODH
17 social phobia 10.1 SERPINA3 PRODH
18 arteries, anomalies of 10.1
19 hyperprolinemia, type i 10.1
20 lipoprotein quantitative trait locus 10.1
21 proteinuria, chronic benign 10.1
22 scoliosis 10.1
23 hyperprolinemia 10.1
24 portal hypertension 10.1
25 portal vein thrombosis 10.1
26 retinal vein occlusion 10.1
27 central retinal vein occlusion 10.1
28 liver disease 10.1
29 lymphopenia 10.1
30 pulmonary embolism 10.1
31 angiomatosis 10.1
32 succinic semialdehyde dehydrogenase deficiency 10.1 SERPINA3 PRODH
33 encephalopathy, familial, with neuroserpin inclusion bodies 10.0 SERPIND1 SERPINC1 SERPINA3
34 amino acid metabolic disorder 10.0 SERPINC1 SERPINA3 PRODH
35 placenta disease 10.0 SERPINC1 SERPINA3 PRODH
36 early-onset parkinson's disease 10.0 SERPINA3 PRODH
37 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0 SERPINC1 SERPINA3 PRODH
38 autosomal genetic disease 10.0 SERPINC1 SERPINA3 PRODH
39 thoracic outlet syndrome 9.9 SERPINC1 PLG
40 livedoid vasculitis 9.9 SERPINC1 PLG
41 intracranial sinus thrombosis 9.9 SERPINC1 PLG
42 cholesterol embolism 9.9 SERPINC1 PLG
43 lateral myocardial infarction 9.9 SERPINC1 PLG
44 intracranial embolism 9.9 SERPINC1 PLG
45 sagittal sinus thrombosis 9.9 SERPINC1 PLG
46 branch retinal artery occlusion 9.9 SERPINC1 PLG
47 retinal artery occlusion 9.9 SERPINC1 PLG
48 anterior cerebral artery infarction 9.9 SERPINC1 PLG
49 central retinal artery occlusion 9.9 SERPINC1 PLG
50 alpha-2-plasmin inhibitor deficiency 9.9 SERPINC1 PLG

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

Human phenotypes related to Heparin Cofactor Ii Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 disseminated intravascular coagulation 31 HP:0005521
2 recurrent deep vein thrombosis 31 HP:0004850
3 post-angioplasty coronary artery restenosis 31 HP:0004761

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
disseminated intravascular coagulation
recurrent deep vein thrombosis
post-angioplasty coronary artery restenosis
intracranial thrombosis

Laboratory Abnormalities:
heparin cofactor ii deficiency

Clinical features from OMIM®:

612356 (Updated 05-Apr-2021)

Drugs & Therapeutics for Heparin Cofactor Ii Deficiency

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

Cochrane evidence based reviews: 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:

40
Liver

Publications for Heparin Cofactor Ii Deficiency

Articles related to Heparin Cofactor Ii Deficiency:

(show all 36)
# Title Authors PMID Year
1
Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji). 57 6 61
8562924 1996
2
Molecular mechanism of type I congenital heparin cofactor (HC) II deficiency caused by a missense mutation at reactive P2 site: HC II Tokushima. 57 6
11204559 2001
3
Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate. 57 6
2647747 1989
4
Hereditary homozygous heparin cofactor II deficiency and the risk of developing venous thrombosis. 61 57
10494755 1999
5
A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects. 61 6
8902986 1996
6
Hereditary heparin cofactor II deficiency and coronary artery disease. 61 57
1615493 1992
7
Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11. 57
1671335 1991
8
Low heparin cofactor II associated with abnormal crossed immunoelectrophoresis pattern in two Norwegian families. 57
2443998 1987
9
Constitutional heparin co-factor II deficiency associated with recurrent thrombosis. 57
2863445 1985
10
Association of hereditary heparin co-factor II deficiency with thrombosis. 57
2863444 1985
11
Recurrent miscarriage syndrome and infertility due to blood coagulation protein/platelet defects: a review and update. 61
15678268 2005
12
Heparin cofactor II deficiency. 61
12421148 2002
13
[Role of newly developed technology in blood coagulation disorders]. 61
12078050 2002
14
Acute brachial artery thrombosis as the initial manifestation of human immunodeficiency virus infection. 61
10814996 2000
15
[Juvenile cerebral infarction associated with heparin cofactor II abnormality. A case report]. 61
10967662 2000
16
Causes of venous thrombosis in fifty Chinese patients. 61
10629572 2000
17
Heparin cofactor II deficiency in central retinal vein occlusion. 61
9881572 1998
18
[Hemostasis and human immunodeficiency virus (HIV) infection]. 61
9754240 1998
19
[Heparin cofactor II deficiency]. 61
9851078 1998
20
Laboratory evaluation and clinical characteristics of 2,132 consecutive unselected patients with venous thromboembolism--results of the Spanish Multicentric Study on Thrombophilia (EMET-Study). 61
9065991 1997
21
Development of argatroban, a direct thrombin inhibitor, and its clinical application. 61
9469623 1997
22
Prevalence of heparin cofactor II deficiency in patients with a history of venous thrombosis. 61
9112638 1996
23
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. 61
8803768 1996
24
[Cerebral infarction in human immunodeficiency virus infection]. 61
7638144 1995
25
Heparin cofactor II deficiency in patients infected with the human immunodeficiency virus. 61
8128426 1993
26
Hereditary thrombophilia among 217 consecutive patients with thromboembolic disease in Jordan. 61
8266926 1993
27
Lack of correction of acquired heparin cofactor II deficiency in patients with liver failure after successful orthotopic liver transplantation. 61
1412172 1992
28
Thromboembolic disease--critical evaluation of laboratory investigation. 61
1514176 1992
29
Heparin cofactor II deficiency in the elderly: comparison with antithrombin III. 61
1381849 1992
30
[Recurrent venous thromboembolism caused by heparin cofactor II deficiency. A case]. 61
1831893 1991
31
Heparin cofactor II deficiency in renal allograft recipients: no correlation with the development of thrombosis. 61
2024235 1991
32
Hereditary heparin cofactor II deficiency and thrombosis: report of six patients belonging to two separate kindreds. 61
2133211 1990
33
[Right ventricular thrombosis due to familial heparin cofactor II deficiency]. 61
2214444 1990
34
Laboratory diagnosis of antithrombin and heparin cofactor II deficiency. 61
2191430 1990
35
Hereditary heparin cofactor II deficiency and the risk of development of thrombosis. 61
3603411 1987
36
Methodology and clinical significance of heparin cofactor II. Probable heparin cofactor II deficiency in a patient with cerebrovascular thrombosis. 61
3840916 1985

Variations for Heparin Cofactor Ii Deficiency

ClinVar genetic disease variations for Heparin Cofactor Ii Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PI4KA , SERPIND1 NM_000185.4(SERPIND1):c.321dup (p.Val108fs) Duplication Pathogenic 14953 rs587777759 GRCh37: 22:21133920-21133921
GRCh38: 22:20779632-20779633
2 PI4KA , SERPIND1 NM_000185.4(SERPIND1):c.1429_1430del (p.Phe477fs) Deletion Pathogenic 14954 rs587777760 GRCh37: 22:21141281-21141282
GRCh38: 22:20786993-20786994
3 PI4KA , SERPIND1 NM_000185.4(SERPIND1):c.1385C>T (p.Pro462Leu) SNV Pathogenic 14955 rs121912420 GRCh37: 22:21141239-21141239
GRCh38: 22:20786951-20786951
4 PI4KA , SERPIND1 NM_000185.4(SERPIND1):c.890-1G>A SNV Pathogenic 1032241 GRCh37: 22:21138259-21138259
GRCh38: 22:20783971-20783971
5 PI4KA , SERPIND1 NM_000185.4(SERPIND1):c.220dup (p.Glu74fs) Duplication Uncertain significance 930228 GRCh37: 22:21133815-21133816
GRCh38: 22:20779527-20779528
6 PI4KA , SERPIND1 NM_000185.4(SERPIND1):c.623G>A (p.Arg208His) SNV Benign 14952 rs5907 GRCh37: 22:21134223-21134223
GRCh38: 22:20779935-20779935

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

72
# 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

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

Cellular components related to Heparin Cofactor Ii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.8 SERPINC1 SERPINA3 PLG

Biological processes related to Heparin Cofactor Ii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.5 SERPIND1 SERPINC1 PLG
2 negative regulation of endopeptidase activity GO:0010951 9.43 SERPIND1 SERPINC1 SERPINA3
3 negative regulation of peptidase activity GO:0010466 9.33 SERPIND1 SERPINC1 SERPINA3
4 hemostasis GO:0007599 9.13 SERPIND1 SERPINC1 PLG
5 blood coagulation GO:0007596 8.92 SERPIND1 SERPINC1 PLG P2RX6

Molecular functions related to Heparin Cofactor Ii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.13 SERPIND1 SERPINC1 SERPINA3
2 serine-type endopeptidase inhibitor activity GO:0004867 8.8 SERPIND1 SERPINC1 SERPINA3

Sources for Heparin Cofactor Ii 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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