Summaries for Hemophilia B

Sources:
6Disease Ontology, 30NIH Rare Diseases, 44Wikipedia, 33OMIM, 15GeneReviews, 22MalaCards
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NIH Rare Diseases: 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.30

MalaCards: Hemophilia B, also known as factor ix deficiency, is related to hemophilic arthropathy and hemophilia. An important gene associated with Hemophilia B is F9 (coagulation factor IX), and among its related pathways are Gamma-carboxylation of protein precursors and BMAL1:CLOCK/NPAS2 Activates Circadian Expression. The drugs factor ix,recombinant and factor viia,recombinant and the compounds clopidogrel and Gamma-Carboxy-Glutamic Acid have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and liver, and related mouse phenotypes are hematopoietic system and immune system.

Disease Ontology: 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.6

Wikipedia: Haemophilia B (or hemophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene,...44 more...

OMIM: 306900

GeneReviews summary for hemo-b

Aliases & Descriptions for Hemophilia B

Sources:
6Disease Ontology, 7diseasecard, 15GeneReviews, 30NIH Rare Diseases, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS, 16GeneTests, 19ICD9CM, 27NCIt, 24MeSH, 40SNOMED-CT
See all sources

Aliases & Descriptions:

hemophilia b 6 7 15 30 8 33 32 43
factor ix deficiency 6 15 30 16
christmas disease 15 30 16
hemophilia b (disorder) 6 16
deficiency, functional factor ix 6
congenital factor ix deficiency 6
congenital factor ix disorder 6
malnutrition 43
hem b 30

External Ids:

ICD9CM19 286.1

Related Diseases for Hemophilia B

Sources:
13GeneCards, 14GeneDecks
See all sources

Disease types for hemophilia family:

hemophilia b

Diseases related to hemophilia b by text searches and GeneDecks gene sharing:

(show top 50)    (show all 472)
idRelated DiseaseScoreTop Affiliating Genes
1hemophilic arthropathy30.0F9, F8
2hemophilia29.4VWF, CKM, FBN1, F9, F8, F7
3factor xi deficiency29.0VWF, F9, F8, F7, F3, F2
4thrombosis29.0F8, F2
5peritonitis28.1VWF, F7, F3, F2, F10, EGF
6twinning27.7VWF, F9, F8, F7, F3, F2
7uremia27.2VWF, F8, F2, PF4
8von willebrand's disease26.8VWF, F9, F8, F7, F3, F2
9nephrotic syndrome26.7VWF, F9, F8, F3, F2, PF4
10factor xii deficiency26.5F3, F2
11chondrodysplasia punctata 1, x-linked26.5F8, F2
12anemia26.4VWF, CKM, F9, F8, F3, F2
13liver cirrhosis26.3F9, F8, F3, F2, HNF4A
14cystic fibrosis25.9VWF, F9, F8, F3, F2, PF4
15thrombophilia25.7VWF, F9, F8, F7, F3, F2
16myocardial infarction25.7VWF, CKM, F9, F8, F7, F3
17disseminated intravascular coagulation25.7VWF, F9, F8, F7, F3, F2
18vitamin k deficiency hemorrhagic disease25.6F9, F7, F3, F2
19hyperhomocysteinemia25.5VWF, FBN1, F9, F8, F7, F3
20chronic obstructive pulmonary disease25.4VWF, F3, F2, EGF, DBP
21short bowel syndrome25.3F3, F2, EGF
22factor v deficiency25.3F9, F8, F7, F3, F2
23hyperthyroidism25.1VWF, F9, F3, F2, CPB2
24pulmonary disease25.0VWF, F3, F2, F11, EGF, DBP
25factor vii deficiency24.8F9, F8, F7, F3, F2, F10
26sepsis24.8F9, F7, F3, F2, F10, CPB2
27hypothyroidism24.8VWF, F9, F8, F3, F2, CPB2
28atherosclerosis24.8VWF, FBN1, F9, F8, F7, F3
29insulin resistance24.6VWF, CKM, F9, F8, F7, HNF4A
30hepatitis24.6VWF, FBN1, F9, F8, F7, F3
31osteoporosis24.5FBN1, F3, F2, EGF, DBP
32diabetes mellitus24.4VWF, FBN1, F8, F7, F3, F2
33fibrosis24.3VWF, FBN1, F9, F8, F3, F2
34periodontitis23.5VWF, FBN1, F9, F7, F3, EGF
35nephropathy22.7VWF, F8, F3, F10, HNF4A, PF4
36hepatitis b22.4F9, F8, F7, F3, F2, HNF4A
37arthritis22.4VWF, FBN1, F3, F2, F10, PF4
38obesity22.3VWF, CKM, F9, F8, F7, F3
39carcinoma21.7VWF, CKM, FBN1, F9, F8, F7
40hepatocellular carcinoma21.2VWF, CKM, FBN1, F9, F8, F7
41cholesterol21.2VWF, F9, F8, F7, F3, F2
42leukemia20.3VWF, CKM, F9, F8, F3, F2
43dysprothrombinemia13.5F2, F10
44thrombophilia, x-linked, due to factor ix defect13.5F9, EMB
45acute fatty liver of pregnancy13.4F3, F2
46peripheral vertigo13.4F3, F2
47ectopia lentis13.4FBN1, F9
48intracranial thrombosis13.4F2, F10
49lymphoplasmacytic lymphoma13.4F3, F2
50carotid artery thrombosis13.4F3, F10

Graphical network of the top 20 diseases related to hemophilia b:



Graphical network of diseases related to hemophilia b

Clinical Features for Hemophilia B

Sources:
33OMIM
See all sources
Clinical features from OMIM: 306900

Drugs & Therapeutics for Hemophilia B

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
See all sources

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 UMLS/NDF-RT:

43 28 factor ix,recombinant, factor viia,recombinant

Genetic Tests for Hemophilia B

Sources:
16GeneTests
See all sources

Genetic tests related to hemophilia b:

id Genetic test Affiliating Genes
1 Hemophilia B
clinical/research
F9

Anatomical Context for Hemophilia B

Sources:
22MalaCards
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MalaCards organs/tissues related to hemophilia b:

22
Brain, Skeletal muscle, Liver, Skin, T cells, B cells, Endothelial

Phenotypes for genes affiliated with Hemophilia B

Sources:
25MGI
See all sources

MGI Mouse Phenotypes related to hemophilia b:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1hematopoietic system phenotypeMP:00053979.7FBN1, F11, TIMD4
2immune system phenotypeMP:00053878.5CPB2, F11, F2, F8, F9, FBN1
3cardiovascular system phenotypeMP:00053857.5F11, F10, F2, F3, F7, F9
4mortality/agingMP:00107686.4F11, HNF4A, KRT5, DBP, CPB2, F10
5homeostasis/metabolism phenotypeMP:00053766.1VWF, CPB2, DBP, PF4, HNF4A, F11

Publications for genes affiliated with Hemophilia B

Sources:
35PubMed
See all sources

Articles related to hemophilia b:

(show top 50)    (show all 123)
idTitleAuthorsYearAffiliating Genes
1A diagnostic challenge: mild hemophilia B with normal activated partial thromboplastin time. (20305539)Park C.H.... Kim S.H.2010F9, F3
2Oral delivery of bioencapsulated coagulation factor I X prevents inhibitor formation and fatal anaphylaxis in hemophilia B mice. (20351275)Verma D.... Daniell H.2010F9
3Major differences in bleeding symptoms between factor VII deficiency and hemophilia B. (19245420)Bernardi F.... Mariani G.2009F9
4An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden. (19416882)Kurachi S.... Kurachi K.2009F9
5Use of recombinant factor IX and thromboelastography in a patient with hemophilia B undergoing liver transplantation: a case report. (18675136)De Pietri L.... Gerunda G.E.2008F9
6First factor IX mutations in Albanian hemophilia B patients. (17985356)Castaman G.... Rodeghiero F.2008F9
7The use of rituximab as an adjuvant for immune tolerance therapy in a hemophilia B boy with inhibitor and anaphylaxis to factor IX concentrate. (18388500)Chuansumrit A.... Wongwerawattanakoon P.2008F9
8Molecular analysis of factor IX gene in an Iranian female with severe hemophilia B. (18434706)Karimipoor M.... Zeinali S.2008F9
9Pharmacokinetic study of recombinant human factor IX in previously treated patients with hemophilia B in Taiwan. (17475604)Chang H.H.... Shen M.C.2007F9
10Recurrent bleeding following traumatic hyphema due to mild hemophilia B (Christmas disease). (17720569)Wilker S.C.... Ellis F.J.2007F9
11Nonoperative management of delayed splenic rupture in a patient with hemophilia B. (16952601)Terry N.E.... Boswell W.C.2006F9
12Remarkable variation in the informativeness of RFLP markers linked to hemophilia B locus in Indian population groups: implication in the strategy for carrier detection. (17264403)Mukherjee S.... Ray K.2006F9
13Molecular genotyping of the Italian cohort of patients with hemophilia B. (15921378)Belvini D.... Tagariello G.2005F9
14Regional intravascular delivery of AAV-2-F.IX to skeletal muscle achieves long-term correction of hemophilia B in a large animal model. (15479726)Arruda V.R.... High K.A.2005F9
15Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene. (15009460)Di Paola J.... Schute B.C.2004F9
16Clinical gene transfer studies for hemophilia B. (15118937)High K.A.2004F9
17Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency. (15266608)Cutler J.A.... Savidge G.F.2004F9
18Complete and sustained phenotypic correction of hemophilia B in mice following hepatic gene transfer of a high-expressing human factor IX plasmid. (12871546)Ye X.... Miao C.H.2003F3
19Abciximab for the treatment of an acute thrombotic coronary occlusion during stent implantation in a patient with severe hemophilia B. (14664288)Bovenzi F.... de Luca I.2003F9
20AAV-mediated factor IX gene transfer to skeletal musc le in patients with severe hemophilia B. (12515715)Manno C.S.... Glader B.2003F9
21Reduced bleeding events with subcutaneous administrat ion of recombinant human factor IX in immune-tolerant hemophilia B dogs. (12933577)Russell K.E.... Nichols T.C.2003F9
22Functional mapping of anti-factor IX inhibitors developed in patients with severe hemophilia B. (11520790)Christophe O.D.... Mertens K.2001F9
23Sustained correction of bleeding disorder in hemophilia B mice by gene therapy. (10097136)Wang L.... Verma I.M.1999F9
24Membranous glomerulonephritis and nephrosis post factor IX infusions in hemophilia B. (9811389)Dharnidharka V.R.... Harris H.W.1998F9
25Recombinant human factor IX: replacement therapy, pro phylaxis, and pharmacokinetics in canine hemophilia B. (8839853)Brinkhous K.M.... Schaub R.G.1996F9
26Implantation of autologous skin fibroblast genetically modified to secrete clotting factor IX partially corrects the hemorrhagic tendencies in two hemophilia B patients. (9275366)Qiu X.... Hsueh J.L.1996F9
27Safety and efficacy of monoclonal antibody purified factor IX concentrate in previously untreated patients with hemophilia B. (8713776)Shapiro A.D.... Hannan M.M.1996F9
28Recent human germ-line mutation: inferences from pati ents with hemophilia B. (7732592)Sommer S.S.1995F9
29In vitro characterization of high purity factor IX co ncentrates for the treatment of hemophilia B. (7495063)Limentani S.A.... Deitcher S.R.1995F9
30Radical prostatectomy in a patient with hemophilia B (7474642)Irie A.... Handa M.1995F9, F3
31Hemophilia B in a neonate: unusual early spontaneous gastrointestinal bleeding. (8048983)Reish O.... Merlob P.1994F9
32Markers of hypercoagulability in patients with hemophilia B given repeated, large doses of factor IX concentrates during and after surgery. (7974341)Santagostino E.... Rosenberg R.D.1994F9
33Six novel and three recurrent mutations in nine Austrian patients with hemophilia B. (7974379)Walter J.... Watzke H.H.1994F9
34Extracorporeal shock wave lithotripsy in a patient with hemophilia B (8515646)Yokoyama T.... Nasu Y.1993F9
35Purified factor IX using monoclonal immunoaffinity technique: clinical trials in hemophilia B and comparison to prothrombin complex concentrates. (1531035)Kim H.C.... Saidi P.1992F9, F2
36Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. (1346975)Ludwig M.... Bajaj S.P.1992F9
37An A to T transversion at position -5 of the factor I X promoter results in hemophilia B. (1733855)Picketts D.J.... Lillicrap D.1992F9
38Myocardial infarction after FEIBA therapy in a hemophilia-B patient with a factor IX inhibitor. (1637888)Mizon P.... Marey A.1992F9
39Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden. (1631121)Reijnen M.J.... Reitsma P.H.1992HNF4A
40Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). (1986380)Taylor S.A.... Lillicrap D.P.1991F9
41T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection. (1864609)Ketterling R.P.... Sommer S.S.1991F9
42Characterization of genetic defects of hemophilia B o f Chinese origin. (1796396)Lin S.W.... Shen M.C.1991F9
43Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes. (1671714)Kuppuswamy M.N.... Bajaj S.P.1991F9
44Human factor IX for the treatment of hemophilia B. (1865518)Cardo L.J.1991F9
45Evidence that descendants of three founders constitut e about 25% of hemophilia B in the United States. (1916816)Ketterling R.P.... Sommer S.S.1991EGF, F9
46Factor IX New London: substitution of proline for glutamine at position 50 causes severe hemophilia B. (2306516)Lozier J.N.... High K.A.1990F9
47Factor IX concentrate versus prothrombin complex concentrate for the treatment of hemophilia B during surgery. (2360238)Bardin J.M.... Sultan Y.1990F9
48Expression of human factor IX in rabbit hepatocytes by retrovirus-mediated gene transfer: potential for gene therapy of hemophilia B. (2385589)Armentano D.... Woo S.L.1990F9
49A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B. (2875754)Vidaud M.... Goossens M.1986F9
50Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). (6320191)Camerino G.... Mandel J.L.1984F9

Expression for genes affiliated with Hemophilia B

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Hemophilia B

Pathways for genes affiliated with Hemophilia B

Sources:
38Reactome, 36QIAGEN, 34PharmGKB, 37R&D Systems, 20KEGG
See all sources

Compounds for genes affiliated with Hemophilia B

Sources:
32Novoseek , 34PharmGKB, 9DrugBank, 18HMDB, 42Tocris Bioscience
See all sources

Compounds related to hemophilia b according to GeneDecks:

(show top 50)    (show all 136)
idCompoundScoreTop Affiliating Genes
1clopidogrel32 34 9 18 9 14.4F10
2Gamma-Carboxy-Glutamic Acid9 9 11.1F10, F2, F9
3ecarin32 10.0F10, F2, F3
4organon32 10.0F3, F9, F2, F10
5spectrozyme32 10.0F3, F2, F10
6coumarins32 10.0F3, F2, F10, F9
7acetaminophen32 34 9 18 9 13.9F10, F8, F9, F2
8kaolin32 9.9F10, F2, F3, F8, F9
9tributylphosphate32 9.8VWF, F9, F8
10cacl232 9.8F9, F10, FBN1, F3, F8
11citrate32 9.8F8, F9, PF4, F10
12danaparoid32 9.8F2, PF4, F10, F3
13polybrene32 9.7F3, F2, PF4
14rfviii32 9.7F9, VWF, F10, F8
15protamine sulfate32 9.7F10, PF4, F2, F3
16abciximab32 9 9 11.7VWF, F3, F10, F2
17hydroxyethyl starch32 9.7VWF, F8, F2, F3
18Coagulation factor VIIa9 9 10.6F3, F7, F10
19coumarin32 18 10.6F9, F3, F2, F10
20ppack32 9.6F10, F2, F3, VWF
21cardiolipin32 9 9 11.6F8, F3, F2, F10
22fondaparinux32 9.6F9, F3, F2, F10, PF4
23phosphatidylserine32 9 9 11.5VWF, F9, F2, F10
24dextran sulfate32 9.5F9, F3, F10, PF4, F11
25tranexamic acid32 9 9 11.5F2, F3, F8, F9, VWF
26rivaroxaban32 9 9 11.5F3, F10, F2
27Coagulation Factor IX9 9 10.4F10, F11, F2, F8, F7
28ristocetin32 9.4F8, F9, VWF, F2, F11, F3
29desmopressin32 42 9 9 12.3F2, F11, F3, F8, F9, VWF
30tirofiban32 9 9 11.2F2, VWF, F3, F10, PF4
31homocysteine32 18 10.1FBN1, F9, F8, F3, F2, F11
32dermatan sulfate32 8.9F3, F10, PF4, F11, F2, F9
33aprotinin32 9 9 10.9F11, F3, F9, VWF, F10, F2
34lysine32 8.8FBN1, HNF4A, PF4, KRT5
35fibrinogen32 8.8F10, PF4, F9, F7, F3, F11
36hirudin32 8.7F9, F3, F2, F8, F10, F11
37phospholipid32 8.7GFM1, F11, F10, VWF, F9, F8
38kininogen32 8.5F11, F7, F9, VWF, F2, PF4
39aspirin32 34 18 10.5HNF4A, F10, F2, F3, F8, PF4
40cysteine32 8.5HNF4A, EGF, CKM, PF4, FBN1
41warfarin32 34 9 18 9 12.3VWF, F9, F8, F7, F3, F2
42aspartate32 8.2F8, VWF, F9, F10, F7, F3
43heparin32 9 18 9 11.1F2, F3, F8, VWF, EGF, FBN1
44creatinine32 7.8F3, F7, F9, VWF, CKM, F2
45gamma-carboxyglutamic acid32 7.8F9, F7, F10, F2, F3, PF4
46alanine32 7.7FBN1, KRT5, PF4, HNF4A, F10, VWF
47arginine32 7.5PF4, KRT5, HNF4A, F10, F8, F9
48estrogen32 7.2FBN1, EGF, F9, F10, KRT5, HNF4A
49serine32 5.8F2, F10, HNF4A, KRT5, EGF, GFM1
50calcium32 9 18 9 8.6KRT5, F10, EGF, HNF4A, PF4, GFM1

GO Terms for genes affiliated with Hemophilia B

Sources:
12Gene Ontology
See all sources

Cellular components related to hemophilia b according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic to external side of plasma membraneGO:0312339.8F3, F10
2endoplasmic reticulum lumenGO:0057889.2F9, F7, F2, F10
3Golgi lumenGO:0057969.1F10, F2, F7, F9
4platelet alpha granule lumenGO:0310938.5EGF, PF4, F8, VWF
5extracellular spaceGO:0056157.3FBN1, CPB2, EGF, PF4, F11, F2
6extracellular regionGO:0055766.8EGF, PF4, F11, F10, F2, F7

Biological processes related to hemophilia b according to GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fibrinolysisGO:05191810.0F2, CPB2
2positive regulation of platelet-derived growth factor receptor signaling pathwayGO:0106419.8F3, F7
3positive regulation of positive chemotaxisGO:0509279.6F7, F3
4positive regulation of protein kinase B signaling cascadeGO:0518979.5F7, F3, F10
5blood coagulation, extrinsic pathwayGO:0075989.5F10, F3, F7, F9
6peptidyl-glutamic acid carboxylationGO:0171879.4F9, F7, F2, F10
7positive regulation of blood coagulationGO:0301949.3F7, F2
8post-translational protein modificationGO:0436879.2F10, F2, F7, F9
9blood coagulation, intrinsic pathwayGO:0075979.1F11, F10, F2, F8, F9, VWF
10proteolysisGO:0065088.9CPB2, F11, F10, F2, F7, F9
11platelet degranulationGO:0025768.7EGF, PF4, F8, VWF
12platelet activationGO:0301688.4EGF, PF4, F2, F8, VWF
13blood coagulationGO:0075966.3VWF, CPB2, EGF, PF4, HNF4A, F11

Molecular functions related to hemophilia b according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042528.7F9, F7, F2, F10, F11
2calcium ion bindingGO:0055098.2F10, F2, F7, F9, FBN1, EGF

Sources for Hemophilia B

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS