THPH8
MCID: THR055
MIFTS: 15

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 57 75 29 13 6 73
Deep Venous Thrombosis, Protection Against 57 29 6
Thph8 57 75

Characteristics:

HPO:

32
thrombophilia, x-linked, due to factor ix defect:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300807
MeSH 44 D019851
UMLS 73 C2749016

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

UniProtKB/Swiss-Prot : 75 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). 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

Clinical features from OMIM:

300807

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

32
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 32 HP:0100724
2 abnormality of the intrinsic pathway 32 HP:0010989
3 deep venous thrombosis 32 HP:0002625

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

Search Clinical Trials , 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 29 F9
2 Deep Venous Thrombosis, Protection Against 29

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

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

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:

75
# 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 GRCh38 Chromosome X, 139530759: 139562076
20 F9 NC_000023.11: g.(?_139530759)_(139562076_?)del deletion Pathogenic GRCh37 Chromosome X, 138612918: 138644235
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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