MCID: HMP004
MIFTS: 77

Hemophilia B malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Hemophilia B

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Hemophilia b is a bleeding disorder that slows the blood clotting process. people with this condition experience prolonged bleeding or oozing following an injury or surgery. in severe cases of hemophilia, heavy bleeding occurs after minor trauma or even in the absence of injury. serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. people with an unusual form of hemophilia b, known as hemophilia b leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. hemophilia b is inherited in an x-linked recessive pattern and is caused by mutations in the f9 gene. last updated: 6/16/2011

MalaCards: Hemophilia B, also known as factor ix deficiency, is related to hepatitis and factor xi deficiency. An important gene associated with Hemophilia B is F9 (coagulation factor IX), and among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. The drugs recombinant fviia and factor ix,recombinant and the compounds organon and rfviii have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and skeletal muscle, and related mouse phenotypes are embryogenesis and hematopoietic system.

Disease Ontology:9 An inherited blood coagulation disease that has material basis in factor ix deficiency, which makes coagulation much more prolonged. the disease is inherited as an x-linked recessive trait.

Wikipedia:66 Haemophilia B (or hemophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene,... more...

Description from OMIM:48 306900

GeneReviews summary for hemo-b

Aliases & Classifications for Hemophilia B

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 28ICD9CM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
hemophilia b:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hemophilia b 9 10 20 44 21 23 48 11 46 50 63
factor ix deficiency 9 20 44 50
christmas disease 20 44 50
deficiency, functional factor ix 9
congenital factor ix deficiency 9
congenital factor ix disorder 9
hemorrhage 63
hem b 44


External Ids:

Disease Ontology9 DOID:12259
OMIM48 306900
MeSH36 D002836
NCIt41 C26721
ICD9CM28 286.1
MESH via Orphanet37 D002836
ICD10 via Orphanet27 D67
SNOMED-CT via Orphanet60 41788008
UMLS via Orphanet64 C0008533

Related Diseases for Hemophilia B

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18GeneCards, 19GeneDecks
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Diseases in the Hemophilia B family:

Hemophilia Acquired Hemophilia
Hemophilia a, Acquired Hemophilia a, Congenital
Severe Hemophilia a Severe Hemophilia B

Diseases related to Hemophilia B via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 120)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis30.6F2, F9, F10, F8, HNF4A
2factor xi deficiency30.3F2, F9, F11, F3, F8, F5
3factor vii deficiency30.3F2, F9, F10, F3, F8, HNF4A
4central retinal vein occlusion30.2F5
5coronary artery disease30.2F10, PF4, F7
6prothrombin deficiency30.2F2, F5
7hemarthrosis30.2F8, F3, F10, F9
8hepatitis b30.1F2, F9, F8, HNF4A
9myocardial infarction30.0F9, F7, F5, CKM, F8, F3
10thrombophilia30.0PF4, F3, F8, F5, F7, F2
11venous thrombosis29.9F2, F9, F10, F11, PF4, F3
12thrombocytopenia29.9F2, F9, F7, F5, F8, F3
13disseminated intravascular coagulation29.8PF4, F3, F8, F5, F7, CPB2
14hemophilia11.4
15severe hemophilia b10.8
16mild hemophilia b10.5
17moderately severe hemophilia b10.4
18nephrotic syndrome10.3
19artery disease10.2
20hiv-110.2
21symptomatic form of hemophilia b in female carriers10.2
22thrombophlebitis10.1F8
23nasopharyngitis10.1
24hemophilic arthropathy10.1
25homocysteinemia10.1F5
26purpura fulminans10.1F5
27warfarin sensitivity10.1F9
28carotid artery thrombosis10.1F3
29hemorrhagic disease10.1F9
30sagittal sinus thrombosis10.1F5
31cardiac tamponade10.1F8
32coronary thrombosis10.1F3
33factor xii deficiency10.1F3, F5
34inherited hypoprothrombinemia10.1F2, F10
35dysfibrinogenemia10.1F5, F2
36vitamin k deficiency hemorrhagic disease10.1F2, F8
37combined factor v and viii deficiency10.1F8, F5
38quebec platelet disorder10.1F10, F5
39blood protein disease10.1F5, F2
40blood platelet disease10.1F8, F10
41marfan syndrome10.1F9, FBN1
42hepatitis a10.1F8, F2
43thrombotic thrombocytopenic purpura, acquired10.1F8, F3
44bernard-soulier syndrome10.1F8, F9, F2
45intracranial thrombosis10.1F3, F8, F5
46placental abruption10.1F2, F5
47portal vein thrombosis10.1F2, F8, F5
48protein c deficiency10.1F2, F9, F5
49bilirubin metabolic disorder10.1F9, F2
50antithrombin iii deficiency10.1F2, F10, F5

Graphical network of the top 20 diseases related to Hemophilia B:



Diseases related to hemophilia b

Symptoms for Hemophilia B

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

306900

Clinical features from OMIM:

306900

Drugs & Therapeutics for Hemophilia B

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Hemophilia B

Drug clinical trials:

Search ClinicalTrials for Hemophilia B

Search NIH Clinical Center for Hemophilia B

Search CenterWatch for Hemophilia B

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Hemophilia B

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21GeneTests, 23GTR
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Genetic tests related to Hemophilia B:

id Genetic test Affiliating Genes
1 Hemophilia B21 F9
2 Hemophilia B(m)23

Anatomical Context for Hemophilia B

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34MalaCards
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MalaCards organs/tissues related to Hemophilia B:

34
Brain, Liver, Skeletal muscle, Skin, Testes, Kidney, Whole blood, Bone, Colon, T cells, Endothelial

Animal Models for Hemophilia B or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hemophilia B:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.6F2, F9, FBN1, F3, HNF4A, F5
2MP:00053978.6F9, FBN1, F11, PF4, F3, F8
3MP:00107718.6F2, FBN1, F3, F5, KRT5, EGF
4MP:00053708.0F9, F11, ONECUT2, ONECUT1, HNF4A, F5
5MP:00053877.8F2, F9, FBN1, F11, CPB2, ONECUT1
6MP:00053857.6F2, F9, FBN1, F10, F11, ONECUT1
7MP:00053787.3CPB2, F11, FBN1, F2, ONECUT1, F3
8MP:00107686.2DBP, F11, F10, FBN1, F9, F2
9MP:00053765.7F7, F2, F9, FBN1, F10, F11

Publications for Hemophilia B

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Sources:
53PubMed
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Articles related to Hemophilia B:

(show top 50)    (show all 476)
idTitleAuthorsYear
1
FVIIa as used pharmacologically is not TF dependent in hemophilia B mice. (24425804)
2014
2
Perioperative management of a hemophilia B infant with intracranial hemorrhage. (23560023)
2012
3
Sensitivity of whole blood clotting time and activated partial thromboplastin time for factor IX: relevance to gene therapy and determination of post-transfusion elimination time of canine factor IX in hemophilia B dogs. (22482117)
2012
4
Poly-N-acetylglucosamine fibers amplify the effectiveness of recombinant factor VIIA on clot formation in hemophilia B canine blood. (21814114)
2011
5
Pelvic pseudotumor and pseudoaneurysm in a pediatric patient with moderate hemophilia B: successful management with arterial embolization and surgical excision. (21105052)
2011
6
A diagnostic challenge: mild hemophilia B with normal activated partial thromboplastin time. (20305539)
2010
7
Factor IX ectopically expressed in platelets can be stored in alpha-granules and corrects the phenotype of hemophilia B mice. (20445020)
2010
8
Endovascular abdominal aortic aneurysm repair in a patient with severe hemophilia B. (19281292)
2009
9
Double mutation, a 2-bp deletion and Val211Ile, in the blood coagulation factor IX gene of a patient with severe hemophilia B]. (19522246)
2009
10
Use of recombinant factor IX and thromboelastography in a patient with hemophilia B undergoing liver transplantation: a case report. (18675136)
2008
11
Non-invasive viral gene transfer of factor IX to colonic epithelial cells in hemophilia B mice. (18182037)
2008
12
Functions of AAV-CMV-F.IX And AAV-EF1alpha-F.IX in gene therapy for hemophilia B. (17266422)
2007
13
Pharmacokinetic study of recombinant human factor IX in previously treated patients with hemophilia B in Taiwan. (17475604)
2007
14
Ulnar artery pseudoaneurysm in a patient with factor IX deficiency (hemophilia B). (19554182)
2007
15
Cutaneous wound healing is impaired in hemophilia B. (16825491)
2006
16
A new potent hFIX plasmid for hemophilia B gene therapy. (15290864)
2004
17
Does an enzyme other than thrombin contribute to unexpected changes in the levels of the different forms of thrombin activatable fibrinolysis inhibitor in patients with hemophilia A, hemophilia B and von Willebrand disease? (15719893)
2004
18
Functional analysis of the EGF-like domain mutations Pro55Ser and Pro55Leu, which cause mild hemophilia B. (12871416)
2003
19
Complete and sustained phenotypic correction of hemophilia B in mice following hepatic gene transfer of a high-expressing human factor IX plasmid. (12871546)
2003
20
A study of gene transfer and expression of human clotting factor IX in hemophilia B mice mediated by mini-adenoviral vector. (18758720)
2003
21
Deep intronic mutations are rarely a cause of hemophilia B. (10477436)
1999
22
An ex vivo keratinocyte model for gene therapy of hemophilia B. (9242498)
1997
23
Replacing the first epidermal growth factor-like domain of factor IX with that of factor VII enhances activity in vitro and in canine hemophilia B. (9259588)
1997
24
Serologic evidence that factor IX inhibitor in the plasma of hemophilia B patients detects factor IX on normal red cells. (8693515)
1996
25
Continuous infusion of factor concentrates: review of use in hemophilia A and demonstration of safety and efficacy in hemophilia B. (7571993)
1995
26
Concomitant treatment with factor IX concentrates and antifibrinolytics in hemophilia B. (7571994)
1995
27
Hemophilia B in a neonate: unusual early spontaneous gastrointestinal bleeding. (8048983)
1994
28
Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411. (7981722)
1994
29
Gene therapy of hemophilia B. (8236102)
1993
30
Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis. (8320491)
1993
31
Delayed human immunodeficiency virus-1 seroconversion in a hemophilia B patient in Japan. (1781835)
1991
32
Group B streptococcal polyarthritis complicating hemophilia B. (2120893)
1990
33
Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs. (1969838)
1990
34
Canine hemophilia B resulting from a point mutation with unusual consequences. (2481310)
1989
35
Hemophilia B in a male with a four-base insertion that arose in the germline of his mother. (2557585)
1989
36
Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B. (2929599)
1989
37
The putative factor IX gene promoter in hemophilia B Leyden. (3416069)
1988
38
Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families. (2893549)
1988
39
Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients. (3029178)
1987
40
An intragenic deletion of the factor IX gene in a family with hemophilia B. (3001143)
1985
41
Incidence, significance, and subtypes of hemophilia BM in a large population of hemophilia B patients. (7059689)
1982
42
Hemophilia B with associated factor VII deficiency: a distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen. (7370439)
1980
43
Hemophilia B (factor IX deficiency) in an Old English Sheepdog. (7353989)
1980
44
The abnormal factor IX of hemophilia B+ variants. (734633)
1978
45
Subacute subdural hematoma in hemophilia B: a case report of successful treatment. (74030)
1977
46
Tricuspid atresia with christmas disease (hemophilia B). Report of a case. (1117747)
1975
47
Hemophilia B+ or Bm. First case reported in Italy. (4700225)
1973
48
Multiple extractions in hemophilia B--use of a PTC (factor IX) concentrate: report of case. (5309178)
1970
49
Hemophilia B associated with a decreased factor VII activity. (13925578)
1962
50
Subcutaneous plasma in therapy of hemophilia B. (13863105)
1961

Variations for Hemophilia B

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hemophilia B:

65 (show all 137)
id Symbol AA change Variation ID SNP ID
1F9p.Ile17AsnVAR_006521
2F9p.Cys28ArgVAR_006522
3F9p.Val30IleVAR_006523
4F9p.Arg43GlnVAR_006524
5F9p.Arg43LeuVAR_006525
6F9p.Arg43TrpVAR_006526
7F9p.Lys45AsnVAR_006527
8F9p.Arg46SerVAR_006528
9F9p.Arg46ThrVAR_006529
10F9p.Asn48IleVAR_006530
11F9p.Ser49ProVAR_006531
12F9p.Glu53AlaVAR_006532
13F9p.Glu54GlyVAR_006533
14F9p.Phe55CysVAR_006534
15F9p.Gly58AlaVAR_006535
16F9p.Gly58ArgVAR_006536
17F9p.Glu66ValVAR_006538
18F9p.Glu67LysVAR_006539
19F9p.Phe71SerVAR_006540
20F9p.Glu73LysVAR_006541
21F9p.Glu73ValVAR_006542
22F9p.Tyr91CysVAR_006543
23F9p.Asp93GlyVAR_006544
24F9p.Gln96ProVAR_006545
25F9p.Cys97SerVAR_006546
26F9p.Pro101ArgVAR_006547
27F9p.Cys102ArgVAR_006548
28F9p.Gly106SerVAR_006549
29F9p.Cys108SerVAR_006550
30F9p.Asp110AsnVAR_006551
31F9p.Ile112SerVAR_006552
32F9p.Asn113LysVAR_006553
33F9p.Tyr115CysVAR_006554
34F9p.Cys119PheVAR_006555
35F9p.Cys119ArgVAR_006556
36F9p.Gly125GluVAR_006557
37F9p.Gly125ValVAR_006558
38F9p.Ile136ThrVAR_006560
39F9p.Gly139AspVAR_006561
40F9p.Gly139SerVAR_006562
41F9p.Cys155PheVAR_006563
42F9p.Gly160GluVAR_006564
43F9p.Gln167HisVAR_006565
44F9p.Cys178ArgVAR_006566
45F9p.Cys178TrpVAR_006567
46F9p.Arg191HisVAR_006568
47F9p.Arg191CysVAR_006569
48F9p.Arg226TrpVAR_006570
49F9p.Arg226GlyVAR_006571
50F9p.Arg226GlnVAR_006572
51F9p.Val227AspVAR_006573
52F9p.Val228LeuVAR_006574
53F9p.Gln241HisVAR_006575
54F9p.Gly253GluVAR_006576
55F9p.Gly253ArgVAR_006577
56F9p.Ala265ThrVAR_006578
57F9p.Ala279ThrVAR_006579
58F9p.Asn283AspVAR_006580
59F9p.Arg294GlyVAR_006582
60F9p.Arg294GlnVAR_006583
61F9p.His302ArgVAR_006584
62F9p.Ile316PheVAR_006585
63F9p.Leu321GlnVAR_006586
64F9p.Pro333HisVAR_006587
65F9p.Thr342LysVAR_006588
66F9p.Thr342MetVAR_006589
67F9p.Gly351AspVAR_006590
68F9p.Trp356CysVAR_006591
69F9p.Gly357GluVAR_006592
70F9p.Lys362GluVAR_006593
71F9p.Gly363TrpVAR_006594
72F9p.Ala366AspVAR_006595
73F9p.Arg379GlyVAR_006596
74F9p.Arg379GlnVAR_006597
75F9p.Cys382TyrVAR_006598
76F9p.Lys387GluVAR_006599
77F9p.Ile390PheVAR_006600
78F9p.Met394LysVAR_006601
79F9p.Cys396SerVAR_006602
80F9p.Arg404ThrVAR_006603
81F9p.Cys407SerVAR_006604
82F9p.Gly413ArgVAR_006605
83F9p.Val419GluVAR_006606
84F9p.Phe424ValVAR_006607
85F9p.Thr426ProVAR_006608
86F9p.Ser430ThrVAR_006609
87F9p.Trp431GlyVAR_006610
88F9p.Trp431ArgVAR_006611
89F9p.Gly432SerVAR_006612
90F9p.Gly432ValVAR_006613
91F9p.Glu433AlaVAR_006614
92F9p.Glu433LysVAR_006615
93F9p.Ala436ValVAR_006616
94F9p.Arg449GlnVAR_006618
95F9p.Arg449TrpVAR_006619
96F9p.Tyr450CysVAR_006620
97F9p.Ile454ThrVAR_006621
98F9p.Arg75GlnVAR_017308
99F9p.Glu79AspVAR_017309
100F9p.Val227PheVAR_017310
101F9p.Val228PheVAR_017311
102F9p.Cys252SerVAR_017312
103F9p.Cys268TrpVAR_017313
104F9p.Glu291ValVAR_017314
105F9p.Asn306SerVAR_017315
106F9p.Gly357ArgVAR_017316
107F9p.Ala397ProVAR_017317
108F9p.Asp410HisVAR_017318
109F9p.Ser411IleVAR_017319
110F9p.Ser411GlyVAR_017320
111F9p.Pro414ThrVAR_017321
112F9p.Gly442ArgVAR_017322
113F9p.Ile443ThrVAR_017323
114F9p.Trp453ArgVAR_017324
115F9p.Cys28TyrVAR_017343
116F9p.Leu52SerVAR_017344
117F9p.Thr84ArgVAR_017345
118F9p.Gly106AspVAR_017346
119F9p.Glu124LysVAR_017347
120F9p.Gly125ArgVAR_017348
121F9p.Cys134TyrVAR_017349
122F9p.Ser169CysVAR_017350
123F9p.Cys170PheVAR_017351
124F9p.Gln241LysVAR_017352
125F9p.Cys252TyrVAR_017353
126F9p.Leu318ArgVAR_017354
127F9p.Pro333ThrVAR_017355
128F9p.Ile344LeuVAR_017356
129F9p.Leu383IleVAR_017357
130F9p.Leu383PheVAR_017358
131F9p.Phe395IleVAR_017359
132F9p.Phe395LeuVAR_017360
133F9p.Cys396PheVAR_017361
134F9p.Cys407ArgVAR_017362
135F9p.Gly412GluVAR_017363
136F9p.Cys435TyrVAR_017364
137F9p.Gly442GluVAR_017365

Clinvar genetic disease variations for Hemophilia B:

1 (show all 95)
id Gene Name Type Significance SNP ID Assembly Location
1F9F9, ARG-4TRPsingle nucleotide variantPathogenic
2F9F9, ARG-1SERundetermined variantPathogenic
3F9F9, GLU7ASPundetermined variantPathogenic
4F9NM_000133.3(F9): c.169C> T (p.Gln57Ter)single nucleotide variantPathogenicrs137852223GRCh37Chr X, 138619249: 138619249
5F9NM_000133.3(F9): c.52T> C (p.Cys18Arg)single nucleotide variantPathogenicrs387906474GRCh37Chr X, 138612975: 138612975
6F9F9, ARG-4GLNsingle nucleotide variantPathogenic
7F9NM_000133.3(F9): c.79G> A (p.Glu27Lys)single nucleotide variantPathogenicrs387906475GRCh37Chr X, 138613002: 138613002
8F9NM_000133.3(F9): c.218A> T (p.Glu73Val)single nucleotide variantPathogenicrs137852226GRCh37Chr X, 138613003: 138613003
9F9NM_000133.3(F9): c.223C> T (p.Arg75Ter)single nucleotide variantPathogenicrs137852227GRCh37Chr X, 138619303: 138619303
10F9NM_000133.3(F9): c.224G> A (p.Arg75Gln)single nucleotide variantPathogenicrs137852228GRCh37Chr X, 138619304: 138619304
11F9NM_000133.3(F9): c.237A> C (p.Glu79Asp)single nucleotide variantPathogenicrs137852229GRCh37Chr X, 138619317: 138619317
12F9F9, IVS3DS, T-Gsingle nucleotide variantPathogenic
13F9NM_000133.3(F9): c.278A> G (p.Asp93Gly)single nucleotide variantPathogenicrs137852230GRCh37Chr X, 138623235: 138623235
14F9NM_000133.3(F9): c.287A> C (p.Gln96Pro)single nucleotide variantPathogenicrs137852231GRCh37Chr X, 138623244: 138623244
15F9NM_000133.3(F9): c.301C> G (p.Pro101Ala)single nucleotide variantPathogenicrs137852232GRCh37Chr X, 138623258: 138623258
16F9NM_000133.3(F9): c.316G> A (p.Gly106Ser)single nucleotide variantPathogenicrs137852233GRCh37Chr X, 138623273: 138623273
17F9NM_000133.3(F9): c.329A> G (p.Asp110Gly)single nucleotide variantPathogenicrs137852234GRCh37Chr X, 138623286: 138623286
18F9NM_000133.3(F9): c.479G> C (p.Gly160Ala)single nucleotide variantPathogenicrs137852235GRCh37Chr X, 138630609: 138630609
19F9NM_000133.3(F9): c.496A> T (p.Asn166Tyr)single nucleotide variantPathogenicrs137852236GRCh37Chr X, 138630626: 138630626
20F9F9, TRP194TERundetermined variantPathogenic
21F9NM_000133.3(F9): c.571C> T (p.Arg191Cys)single nucleotide variantPathogenicrs137852237GRCh37Chr X, 138633271: 138633271
22F9NM_000133.3(F9): c.572G> A (p.Arg191His)single nucleotide variantPathogenicrs137852238GRCh37Chr X, 138633272: 138633272
23F9F9, IVS7AS, G-Asingle nucleotide variantPathogenic
24F9NM_000133.3(F9): c.880C> T (p.Arg294Ter)single nucleotide variantPathogenicrs137852248GRCh37Chr X, 138643724: 138643724
25F9NM_000133.3(F9): c.655C> T (p.Gln219Ter)single nucleotide variantPathogenicrs137852239GRCh37Chr X, 138633355: 138633355
26F9NM_000133.3(F9): c.676C> T (p.Arg226Trp)single nucleotide variantPathogenicrs137852240GRCh37Chr X, 138633376: 138633376
27F9NM_000133.3(F9): c.541G> T (p.Val181Phe)single nucleotide variantPathogenicrs387906477GRCh37Chr X, 138633241: 138633241
28F9NM_000133.3(F9): c.682G> T (p.Val228Phe)single nucleotide variantPathogenicrs137852243GRCh37Chr X, 138633382: 138633382
29F9NM_000133.3(F9): c.709C> T (p.Gln237Ter)single nucleotide variantPathogenicrs137852244GRCh37Chr X, 138633409: 138633409
30F9NM_000133.3(F9): c.710A> T (p.Gln237Leu)single nucleotide variantPathogenicrs137852245GRCh37Chr X, 138633410: 138633410
31F9F9, IVS6DS, G-Tsingle nucleotide variantPathogenic
32F9F9, TRP215TERundetermined variantPathogenic
33F9NM_000133.3(F9): c.804T> G (p.Cys268Trp)single nucleotide variantPathogenicrs137852246GRCh37Chr X, 138642980: 138642980
34F9NM_000133.3(F9): c.697G> A (p.Ala233Thr)single nucleotide variantPathogenicrs387906478GRCh37Chr X, 138633397: 138633397
35F9NM_000133.3(F9): c.881G> A (p.Arg294Gln)single nucleotide variantPathogenicrs137852249GRCh37Chr X, 138643725: 138643725
36F9NM_000133.3(F9): c.892C> T (p.Arg298Ter)single nucleotide variantPathogenicrs137852250GRCh37Chr X, 138643736: 138643736
37F9NM_000133.3(F9): c.917A> G (p.Asn306Ser)single nucleotide variantPathogenicrs137852251GRCh37Chr X, 138643761: 138643761
38F9NM_000133.3(F9): c.998C> T (p.Pro333Leu)single nucleotide variantPathogenicrs137852252GRCh37Chr X, 138643842: 138643842
39F9NM_000133.3(F9): c.1009G> C (p.Ala337Pro)single nucleotide variantPathogenicrs137852253GRCh37Chr X, 138643853: 138643853
40F9NM_000133.3(F9): c.1025C> T (p.Thr342Met)single nucleotide variantPathogenicrs137852254GRCh37Chr X, 138643869: 138643869
41F9NM_000133.3(F9): c.1058T> C (p.Val353Ala)single nucleotide variantPathogenicrs137852255GRCh37Chr X, 138643902: 138643902
42F9NM_000133.3(F9): c.1064G> T (p.Gly355Val)single nucleotide variantPathogenicrs137852256GRCh37Chr X, 138643908: 138643908
43F9F9, TRP310TERundetermined variantPathogenic
44F9NM_000133.3(F9): c.1069G> A (p.Gly357Arg)single nucleotide variantPathogenicrs137852257GRCh37Chr X, 138643913: 138643913
45F9NM_000133.3(F9): c.1135C> T (p.Arg379Ter)single nucleotide variantPathogenicrs137852258GRCh37Chr X, 138643979: 138643979
46F9NM_000133.3(F9): c.1136G> A (p.Arg379Gln)single nucleotide variantPathogenicrs137852259GRCh37Chr X, 138643980: 138643980
47F9NM_000133.3(F9): c.1144T> C (p.Cys382Arg)single nucleotide variantPathogenicrs137852260GRCh37Chr X, 138643988: 138643988
48F9NM_000133.3(F9): c.1150C> T (p.Arg384Ter)single nucleotide variantPathogenicrs137852261GRCh37Chr X, 138643994: 138643994
49F9NM_000133.3(F9): c.1180A> G (p.Met394Val)single nucleotide variantPathogenicrs137852262GRCh37Chr X, 138644024: 138644024
50F9NM_000133.3(F9): c.1217C> T (p.Ser406Leu)single nucleotide variantPathogenicrs137852263GRCh37Chr X, 138644061: 138644061
51F9NM_000133.3(F9): c.1088G> T (p.Gly363Val)single nucleotide variantPathogenicrs387906479GRCh37Chr X, 138643932: 138643932
52F9F9, GLY367ARGundetermined variantPathogenic
53F9NM_000133.3(F9): c.1240C> A (p.Pro414Thr)single nucleotide variantPathogenicrs137852265GRCh37Chr X, 138644084: 138644084
54F9F9, PHE378LEUundetermined variantPathogenic
55F9NM_000133.3(F9): c.1307C> A (p.Ala436Glu)single nucleotide variantPathogenicrs137852266GRCh37Chr X, 138644151: 138644151
56F9NM_000133.3(F9): c.1307C> T (p.Ala436Val)single nucleotide variantPathogenicrs137852266GRCh37Chr X, 138644151: 138644151
57F9NM_000133.3(F9): c.1324G> A (p.Gly442Arg)single nucleotide variantPathogenicrs137852267GRCh37Chr X, 138644168: 138644168
58F9F9, EX4DELdeletionPathogenic
59F9F9, EX4INSinsertionPathogenic
60F9NM_000133.3(F9): c.1328T> C (p.Ile443Thr)single nucleotide variantPathogenicrs137852268GRCh37Chr X, 138644172: 138644172
61F9NM_000133.3(F9): c.1357T> C (p.Trp453Arg)single nucleotide variantPathogenicrs137852269GRCh37Chr X, 138644201: 138644201
62F9NM_000133.3(F9): c.1369A> T (p.Lys457Ter)single nucleotide variantPathogenicrs137852270GRCh37Chr X, 138644213: 138644213
63F9F9, EX1-8DELdeletionPathogenic
64F9F9, EX1DELdeletionPathogenic
65F9F9, EX1-3DELdeletionPathogenic
66F9F9, EX2-8DELdeletionPathogenic
67F9F9, EX4-5DELdeletionPathogenic
68F9F9, EX5-8DELdeletionPathogenic
69F9F9, EX51INSinsertionPathogenic
70F9F9, EX7DELdeletionPathogenic
71F9F9, 1-BP DEL, ASP85FSdeletionPathogenic
72F9NM_000133.3(F9): c.1120G> T (p.Val374Phe)single nucleotide variantPathogenicrs137852271GRCh37Chr X, 138643964: 138643964
73F9NM_000133.3(F9): c.484C> T (p.Arg162Ter)single nucleotide variantPathogenicrs137852272GRCh37Chr X, 138630614: 138630614
74F9NM_000133.3(F9): c.1187G> C (p.Cys396Ser)single nucleotide variantPathogenicrs137852273GRCh37Chr X, 138644031: 138644031
75F9NM_000133.3(F9): c.328G> A (p.Asp110Asn)single nucleotide variantPathogenicrs137852274GRCh37Chr X, 138623285: 138623285
76F9NM_000133.3(F9): c.1070G> A (p.Gly357Glu)single nucleotide variantPathogenicrs137852275GRCh37Chr X, 138643914: 138643914
77F9F9, IVS4, 4442-BP DELdeletionPathogenic
78F9NM_000133.3(F9): c.1232G> T (p.Ser411Ile)single nucleotide variantPathogenicrs137852276GRCh37Chr X, 138644076: 138644076
79F9NM_000133.3(F9): c.1231A> G (p.Ser411Gly)single nucleotide variantPathogenicrs137852277GRCh37Chr X, 138644075: 138644075
80F9NM_000133.3(F9): c.1228G> C (p.Asp410His)single nucleotide variantPathogenicrs137852278GRCh37Chr X, 138644072: 138644072
81F9NM_000133.3(F9): c.872A> T (p.Glu291Val)single nucleotide variantPathogenicrs137852279GRCh37Chr X, 138643716: 138643716
82F9F9, ALU INSERTION, EX5insertionPathogenic
83F9F9, 17747G-Csingle nucleotide variantPathogenic
84F9NM_000133.3(F9): c.31T> A (p.Ser11Thr)single nucleotide variantPathogenicrs387906480GRCh37Chr X, 138612954: 138612954
85F9NM_000133.3(F9): c.82T> C (p.Cys28Arg)single nucleotide variantPathogenicrs387906481GRCh37Chr X, 138613005: 138613005
86F9NM_000133.3(F9): c.1256T> A (p.Val419Glu)single nucleotide variantPathogenicrs137852280GRCh37Chr X, 138644100: 138644100
87F9NM_000133.3(F9): c.1151G> C (p.Arg384Pro)single nucleotide variantPathogenicrs137852283GRCh37Chr X, 138643995: 138643995
88F9NM_000133.3(F9): c.1189G> C (p.Ala397Pro)single nucleotide variantPathogenicrs137852281GRCh37Chr X, 138644033: 138644033
89F9F9, 17747G-Asingle nucleotide variantPathogenic
90F9NM_000133.3(F9): c.277+2T> Csingle nucleotide variantPathogenicGRCh37Chr X, 138619547: 138619547
91F9NM_000133.3(F9): c.1031T> C (p.Ile344Thr)single nucleotide variantPathogenicrs387906482GRCh37Chr X, 138643875: 138643875
92F9NM_000133.3(F9): c.755G> C (p.Cys252Ser)single nucleotide variantPathogenicrs267606792GRCh37Chr X, 138642931: 138642931
93F9NM_000133.3(F9): c.540_541delAG (p.Arg180Serfs)deletionPathogenicGRCh37Chr X, 138633240: 138633241
94F9NM_000133.3(F9): c.1151G> T (p.Arg384Leu)single nucleotide variantPathogenicrs137852283GRCh37Chr X, 138643995: 138643995
95F9F9, IVS3, A-G, -3single nucleotide variantPathogenic

Expression for genes affiliated with Hemophilia B

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hemophilia B

Search GEO for disease gene expression data for Hemophilia B.

Pathways for genes affiliated with Hemophilia B

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Sources:
51PathCards, 56Reactome, 52PharmGKB, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN, 55R&D Systems
See all sources

Pathways related to Hemophilia B according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4F2, F9, F10, F7
2
Show member pathways
9.1F2, F9, F10, CPB2, F7
3
Show member pathways
9.0PF4, F8, F5, EGF
4
Show member pathways
9.0EGF, PF4, FBN1, F2
5
Show member pathways
8.4F2, F9, F10, F11, F3, F8
6
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
8.1F2, F9, F10, F11, CPB2, F3
7
Show member pathways
7.9F7, F2, F5, F8, F3, PF4
8
Show member pathways
7.4F2, F9, F10, F11, PF4, F3

Compounds for genes affiliated with Hemophilia B

About this section
Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 3BitterDB, 25HMDB, 62Tocris Bioscience, 30IUPHAR
See all sources

Compounds related to Hemophilia B according to GeneCards/GeneDecks:

(show top 50)    (show all 161)
idCompoundScoreTop Affiliating Genes
1organon469.9F2, F10, F3, F9
2rfviii469.9F10, F8, F5, F9
3ecarin469.9F3, F5, F2, F10
4spectrozyme469.8F5, F3, F2, F10
5ximelagatran46 1210.8F2, F10, F3, F5
6acenocoumarol46 52 1211.8F3, F5, F9, F2
7heparinoids469.8F10, F5, F3, F2
8tranexamic acid46 1210.8F2, F9, F3, F8
9bivalirudin46 1210.8F2, F10, F3, F5
10argatroban46 1210.7F3, F5, F2, F10
11coumarins469.7F2, F3, F10, F9, F5
12coumarin46 3 52 2512.6F3, F10, F2, F9, F5
13cardiolipin46 1210.6F10, F2, F3, F8, F5
14ristocetin469.5F9, F8, F3, F11, F2, F5
15cacl2469.5F8, F9, FBN1, F10, F3, F5
16kaolin469.5F2, F9, F5, F8, F3, F10
17desmopressin46 62 30 1212.5F3, F9, F8, F11, F5, F2
18inogatran469.4F2, F5, F3
19tirofiban46 1210.4PF4, F10, F2, F3
20danaparoid469.4PF4, F3, F2, F10, F5
21acetaminophen46 3 52 25 1213.4F2, F9, F8, F10, F5
22protamine sulfate469.4F5, F3, PF4, F2, F10
23abciximab46 1210.2F3, F10, F2, PF4
24protamine469.2F10, F3, F5, PF4, F2
25homocysteine46 2510.2F9, F2, FBN1, F11, F3, F8
26levonorgestrel46 62 30 1212.2F7, F3, F5, F2
27phosphatidylserine46 30 1211.2F10, F3, F9, F2, F5, F8
28dextran sulfate469.2PF4, F3, F5, F10, F9, F11
29fondaparinux469.2F5, F3, PF4, F10, F9, F2
30phospholipid469.1F8, F2, F9, F10, F11, F3
31dermatan sulfate469.0F5, F3, PF4, F2, F9, F10
32aprotinin46 129.9F2, F9, F10, PF4, F3, F11
33polyethylene glycol468.9PF4, F10, F2, F8, F5
34citrate468.9F8, PF4, F3, F10, F9, F5
35kininogen468.8F11, F7, F5, F3, PF4, F2
36hirudin468.7F5, F8, F3, PF4, F11, F10
37aspirin46 52 30 2511.7PF4, F10, F3, F2, F8, HNF4A
38aspartate468.6F2, F5, F10, F7, F8, F3
39warfarin46 52 25 1211.6F2, F9, F7, F5, F8, F3
40gamma-carboxyglutamic acid468.3F2, F9, F10, PF4, F3, F5
41lysine468.3KRT5, HNF4A, F8, F9, PF4, CPB2
42creatinine468.1F7, F9, CPB2, F5, CKM, F8
43fibrinogen468.0F2, F9, F10, F11, CPB2, PF4
44estrogen468.0F10, EGF, F5, F8, FBN1, KRT5
45alanine467.9F8, HNF4A, F2, F5, F9, KRT5
46arginine467.8F5, CKM, HNF4A, F8, PF4, CPB2
47cysteine467.7FBN1, F10, PF4, F3, F8, HNF4A
48heparin46 30 25 1210.7F5, F8, F3, PF4, F2, F9
49serine467.1F9, F10, KRT5, HNF4A, F8, CKM
50calcium46 52 25 129.8CKM, CPB2, PF4, F9, F8, FBN1

GO Terms for genes affiliated with Hemophilia B

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Sources:
17Gene Ontology
See all sources

Cellular components related to Hemophilia B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of external side of plasma membraneGO:03123310.0F3, F10
2Golgi lumenGO:0057969.4F2, F9, F10, F7
3endoplasmic reticulum lumenGO:0057889.1F2, F9, F10, F7
4platelet alpha granule lumenGO:0310939.0PF4, F8, F5, EGF
5plasma membraneGO:0058867.5F2, F9, F10, F11, F3, F8
6extracellular regionGO:0055767.5F2, F9, FBN1, F10, F11, PF4
7extracellular spaceGO:0056157.5F7, F2, FBN1, F11, CPB2, PF4

Biological processes related to Hemophilia B according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of platelet-derived growth factor receptor signaling pathwayGO:01064110.1F7, F3
2negative regulation of fibrinolysisGO:05191810.0CPB2, F2
3positive regulation of positive chemotaxisGO:0509279.9F3, F7
4positive regulation of protein kinase B signalingGO:0518979.8F10, F3, F7
5blood coagulation, extrinsic pathwayGO:0075989.7F7, F3, F10, F9
6positive regulation of blood coagulationGO:0301949.7F7, F2
7peptidyl-glutamic acid carboxylationGO:0171879.7F2, F9, F10, F7
8blood coagulation, intrinsic pathwayGO:0075979.7F2, F9, F10, F11, F8
9fibrinolysisGO:0427309.6CPB2, F2
10post-translational protein modificationGO:0436879.6F2, F9, F10, F7
11proteolysisGO:0065089.4F2, F9, F10, CPB2, F7
12cellular protein metabolic processGO:0442679.4F7, F10, F9, F2
13platelet degranulationGO:0025769.3PF4, F8, F5, EGF
14epithelial cell developmentGO:0020649.3ONECUT1, ONECUT2
15regulation of cell-matrix adhesionGO:0019529.2ONECUT2, ONECUT1
16platelet activationGO:0301689.0EGF, F5, F8, PF4, F2
17endocrine pancreas developmentGO:0310188.9HNF4A, ONECUT1, ONECUT2
18liver developmentGO:0018898.7ONECUT1, ONECUT2, DBP
19positive regulation of cell migrationGO:0303358.5F7, F3, ONECUT1, ONECUT2, F10
20positive regulation of transcription from RNA polymerase II promoterGO:0459447.7HNF4A, ONECUT1, ONECUT2, PF4, DBP
21blood coagulationGO:0075967.1F7, F2, F9, F10, F11, CPB2

Molecular functions related to Hemophilia B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:0010778.7DBP, ONECUT1, HNF4A
2serine-type endopeptidase activityGO:0042528.6F7, F2, F9, F10, F11, F8
3calcium ion bindingGO:0055098.5F2, F9, FBN1, F10, EGF, F7
4protein bindingGO:0055157.2FBN1, F10, F11, F3, F8, HNF4A

Products for genes affiliated with Hemophilia B

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemophilia B

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet