THPH8
MCID: THR055
MIFTS: 19

Thrombophilia, X-Linked, Due to Factor Ix Defect (THPH8)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Thrombophilia, X-Linked, Due to Factor Ix Defect

MalaCards integrated aliases for Thrombophilia, X-Linked, Due to Factor Ix Defect:

Name: Thrombophilia, X-Linked, Due to Factor Ix Defect 58 76 30 13 6 74
Deep Venous Thrombosis, Protection Against 58 30 6
Thph8 58 76

Characteristics:

HPO:

33
thrombophilia, x-linked, due to factor ix defect:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 300807
MeSH 45 D019851
UMLS 74 C2749016

Summaries for Thrombophilia, X-Linked, Due to Factor Ix Defect

UniProtKB/Swiss-Prot : 76 Thrombophilia, X-linked, due to factor IX defect: A hemostatic disorder characterized by a tendency to thrombosis.

MalaCards based summary : Thrombophilia, X-Linked, Due to Factor Ix Defect, is also known as deep venous thrombosis, protection against. An important gene associated with Thrombophilia, X-Linked, Due to Factor Ix Defect is F9 (Coagulation Factor IX). The drugs Heparin and Tinzaparin have been mentioned in the context of this disorder. Related phenotypes are hypercoagulability and abnormality of the intrinsic pathway

Description from OMIM: 300807

Related Diseases for Thrombophilia, X-Linked, Due to Factor Ix Defect

Symptoms & Phenotypes for Thrombophilia, X-Linked, Due to Factor Ix Defect

Human phenotypes related to Thrombophilia, X-Linked, Due to Factor Ix Defect:

33
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 33 HP:0100724
2 abnormality of the intrinsic pathway 33 HP:0010989
3 deep venous thrombosis 33 HP:0002625

Clinical features from OMIM:

300807

Drugs & Therapeutics for Thrombophilia, X-Linked, Due to Factor Ix Defect

Drugs for Thrombophilia, X-Linked, Due to Factor Ix Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational 9005-49-6 46507594 772
2
Tinzaparin Approved 9041-08-1, 9005-49-6 25244225
3 Fibrinolytic Agents
4 calcium heparin
5 Heparin, Low-Molecular-Weight
6 Anticoagulants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of the Bioaccumulation of Tinzaparin in Renally Impaired Patients When Given at Prophylactic Doses Completed NCT02719418 Tinzaparin

Search NIH Clinical Center for Thrombophilia, X-Linked, Due to Factor Ix Defect

Genetic Tests for Thrombophilia, X-Linked, Due to Factor Ix Defect

Genetic tests related to Thrombophilia, X-Linked, Due to Factor Ix Defect:

# Genetic test Affiliating Genes
1 Thrombophilia, X-Linked, Due to Factor Ix Defect 30 F9
2 Deep Venous Thrombosis, Protection Against 30

Anatomical Context for Thrombophilia, X-Linked, Due to Factor Ix Defect

Publications for Thrombophilia, X-Linked, Due to Factor Ix Defect

Articles related to Thrombophilia, X-Linked, Due to Factor Ix Defect:

# Title Authors Year
1
X-linked thrombophilia with a mutant factor IX (factor IX Padua). ( 19846852 )
2009
2
Gene variants associated with deep vein thrombosis. ( 18349091 )
2008
3
Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers. ( 2564457 )
1989
4
The Malmö polymorphism of coagulation factor IX, an immunologic polymorphism due to dimorphism of residue 148 that is in linkage disequilibrium with two other F.IX polymorphisms. ( 2450455 )
1988
5
Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX. ( 3857619 )
1985

Variations for Thrombophilia, X-Linked, Due to Factor Ix Defect

UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia, X-Linked, Due to Factor Ix Defect:

76
# Symbol AA change Variation ID SNP ID
1 F9 p.Arg384Leu VAR_062999 rs137852283

ClinVar genetic disease variations for Thrombophilia, X-Linked, Due to Factor Ix Defect:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 F9 NM_000133.3(F9): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs137852227 GRCh37 Chromosome X, 138619303: 138619303
2 F9 NM_000133.3(F9): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs137852227 GRCh38 Chromosome X, 139537144: 139537144
3 F9 NM_000133.3(F9): c.580A> G (p.Thr194Ala) single nucleotide variant Benign rs6048 GRCh37 Chromosome X, 138633280: 138633280
4 F9 NM_000133.3(F9): c.580A> G (p.Thr194Ala) single nucleotide variant Benign rs6048 GRCh38 Chromosome X, 139551121: 139551121
5 F9 NM_000133.3(F9): c.819T> C (p.Val273=) single nucleotide variant Benign/Likely benign rs1800455 GRCh37 Chromosome X, 138642995: 138642995
6 F9 NM_000133.3(F9): c.819T> C (p.Val273=) single nucleotide variant Benign/Likely benign rs1800455 GRCh38 Chromosome X, 139560836: 139560836
7 F9 NM_000133.3(F9): c.1151G> T (p.Arg384Leu) single nucleotide variant Pathogenic rs137852283 GRCh37 Chromosome X, 138643995: 138643995
8 F9 NM_000133.3(F9): c.1151G> T (p.Arg384Leu) single nucleotide variant Pathogenic rs137852283 GRCh38 Chromosome X, 139561836: 139561836
9 F9 NM_000133.3(F9): c.391+10T> G single nucleotide variant Benign/Likely benign rs375734226 GRCh37 Chromosome X, 138623358: 138623358
10 F9 NM_000133.3(F9): c.391+10T> G single nucleotide variant Benign/Likely benign rs375734226 GRCh38 Chromosome X, 139541199: 139541199
11 F9 NM_000133.3(F9): c.391+7A> G single nucleotide variant Benign rs6049 GRCh37 Chromosome X, 138623355: 138623355
12 F9 NM_000133.3(F9): c.391+7A> G single nucleotide variant Benign rs6049 GRCh38 Chromosome X, 139541196: 139541196
13 F9 NM_000133.3(F9): c.1095A> G (p.Ser365=) single nucleotide variant Benign/Likely benign rs112057482 GRCh37 Chromosome X, 138643939: 138643939
14 F9 NM_000133.3(F9): c.1095A> G (p.Ser365=) single nucleotide variant Benign/Likely benign rs112057482 GRCh38 Chromosome X, 139561780: 139561780
15 F9 NM_000133.3(F9): c.1381A> C (p.Thr461Pro) single nucleotide variant Benign/Likely benign rs4149751 GRCh37 Chromosome X, 138644225: 138644225
16 F9 NM_000133.3(F9): c.1381A> C (p.Thr461Pro) single nucleotide variant Benign/Likely benign rs4149751 GRCh38 Chromosome X, 139562066: 139562066
17 F9 NM_000133.3(F9): c.19A> T (p.Ile7Phe) single nucleotide variant Benign/Likely benign rs150190385 GRCh37 Chromosome X, 138612942: 138612942
18 F9 NM_000133.3(F9): c.19A> T (p.Ile7Phe) single nucleotide variant Benign/Likely benign rs150190385 GRCh38 Chromosome X, 139530783: 139530783
19 F9 NC_000023.11: g.(?_139530759)_(139562076_?)del deletion Pathogenic GRCh37 Chromosome X, 138612918: 138644235
20 F9 NC_000023.11: g.(?_139530759)_(139562076_?)del deletion Pathogenic GRCh38 Chromosome X, 139530759: 139562076
21 F9 NM_000133.3(F9): c.253-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome X, 138619520: 138619520
22 F9 NM_000133.3(F9): c.253-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome X, 139537361: 139537361
23 F9 NM_000133.3(F9): c.1148T> C (p.Leu383Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 138643992: 138643992
24 F9 NM_000133.3(F9): c.1148T> C (p.Leu383Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 139561833: 139561833

Expression for Thrombophilia, X-Linked, Due to Factor Ix Defect

Search GEO for disease gene expression data for Thrombophilia, X-Linked, Due to Factor Ix Defect.

Pathways for Thrombophilia, X-Linked, Due to Factor Ix Defect

GO Terms for Thrombophilia, X-Linked, Due to Factor Ix Defect

Sources for Thrombophilia, X-Linked, Due to Factor Ix Defect

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10 dbSNP
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70 SNOMED-CT via HPO
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72 TGDB
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74 UMLS
75 UMLS via Orphanet
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