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encyclopedia of Rare Disease Annotation for Precision Medicine



   hemophilia b
  

Disease ID 196
Disease hemophilia b
Definition
A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)
Synonym
antihemophilic factor b deficiency
autoprothrombin ii deficiency
b haemophilia
b hemophilia
bs, hemophilia
christmas dis
christmas disease
cong factor ix disorder
congenital factor ix deficiency
congenital factor ix deficiency (disorder)
congenital factor ix disorder
defic factor ix
deficiencies, f9
deficiencies, factor ix
deficiency, f9
deficiency, factor ix
deficiency, functional factor ix
deficiency, plasma thromboplastin component
deficiency, ptc
disease, christmas
f9 deficiencies
f9 deficiency
factor ix defic
factor ix deficiencies
factor ix deficiency
factor ix deficiency (disorder)
factor viiii deficiency
haemophilia b
haemophilia b, nos
haemophilia bs
hemb
hemophilia b (disorder)
hemophilia b [disease/finding]
hemophilia b leyden
hemophilia b(m)
hemophilia b, nos
hemophilia bs
hemophilia bs (m)
hereditary factor ix deficiency disease
hereditary factor ix deficiency disease (disorder)
plasma thromboplastin component deficiency
ptc deficiency
ptc deficiency disease
sex-linked factor ix deficiency disease
Orphanet
OMIM
DOID
UMLS
C0008533
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:16)
C0040053  |  thrombosis  |  2
C0008533  |  haemophilia b  |  1
C0008533  |  hemophilia b  |  1
C0023470  |  myelogenous leukemia  |  1
C0023467  |  acute myelogenous leukemia  |  1
C0011847  |  diabetes  |  1
C0015523  |  haemophilia c  |  1
C0023895  |  liver disease  |  1
C0008533  |  christmas disease  |  1
C0019069  |  haemophilia  |  1
C0010068  |  coronary artery disease  |  1
C0019069  |  hemophilia  |  1
C0011849  |  diabetes mellitus  |  1
C0023418  |  leukemia  |  1
C0022408  |  arthropathy  |  1
C0008533  |  factor ix deficiency  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
2158  |  F9  |  CLINVAR;CTD_human;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
2158  |  F9  |  CIPHER;CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:27)
60  |  ACTB  |  2.162  |  DISEASES
55811  |  ADCY10  |  1.236  |  DISEASES
79969  |  ATAT1  |  1.837  |  DISEASES
285193  |  DUSP28  |  2.277  |  DISEASES
2027  |  ENO3  |  2.725  |  DISEASES
2159  |  F10  |  3.02  |  DISEASES
2160  |  F11  |  3.684  |  DISEASES
2152  |  F3  |  5.112  |  DISEASES
2155  |  F7  |  4.879  |  DISEASES
2157  |  F8  |  5.455  |  DISEASES
85476  |  GFM1  |  3.511  |  DISEASES
50618  |  ITSN2  |  1.203  |  DISEASES
23641  |  LDOC1  |  1.928  |  DISEASES
286411  |  LINC00632  |  3.665  |  DISEASES
5627  |  PROS1  |  2.388  |  DISEASES
343035  |  RD3  |  2.305  |  DISEASES
6406  |  SEMG1  |  1.274  |  DISEASES
5265  |  SERPINA1  |  1.206  |  DISEASES
462  |  SERPINC1  |  3.051  |  DISEASES
6461  |  SHB  |  1.515  |  DISEASES
83650  |  SLC35G5  |  1.594  |  DISEASES
6658  |  SOX3  |  2.098  |  DISEASES
64663  |  SPANXC  |  2.919  |  DISEASES
64648  |  SPANXD  |  2.649  |  DISEASES
84000  |  TMPRSS13  |  2.579  |  DISEASES
8995  |  TNFSF18  |  1.425  |  DISEASES
7499  |  XG  |  1.817  |  DISEASES
Locus(Waiting for update.)
Disease ID 196
Disease hemophilia b
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:20)
HP:0005261  |  Joint hemorrhage
HP:0001934  |  Excessive bleeding after minor trauma
HP:0011858  |  Reduced factor IX activity
HP:0002239  |  Gastrointestinal hemorrhage
HP:0040232  |  Delayed onset bleeding
HP:0003645  |  Prolonged partial thromboplastin time
HP:0003645  |  Delayed thromboplastin generation
HP:0003010  |  Prolonged bleeding time
HP:0005542  |  Prolonged whole-blood clotting time
HP:0004406  |  Spontaneous, recurrent epistaxis
HP:0012541  |  Cephalohematoma
HP:0004846  |  Prolonged bleeding after surgery
HP:0002758  |  Osteoarthritis
HP:0001892  |  Bleeding diathesis
HP:0400008  |  Menometrorrhagia
HP:0000790  |  Hematuria
HP:0002170  |  Intracranial hemorrhage
HP:0006298  |  Prolonged bleeding after dental extraction
HP:0012233  |  Intramuscular hematoma
HP:0001058  |  Poor wound healing
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:10)
HP:0001909  |  Leukemia  |  1
HP:0004936  |  Blood clot in vein  |  1
HP:0004808  |  Acute myelogenous leukemia  |  1
HP:0100310  |  Extradural hematoma  |  1
HP:0001677  |  Coronary artery disease  |  1
HP:0000819  |  Diabetes mellitus  |  1
HP:0002170  |  Intracranial hemorrhage  |  1
HP:0012531  |  Pain  |  1
HP:0003040  |  Arthropathy  |  1
HP:0001342  |  Intracerebral hemorrhage  |  1
Disease ID 196
Disease hemophilia b
Manually Symptom
UMLS  | Name(Total Manually Symptoms:18)
C2363741  |  hiv-1 infection
C1962958  |  hematoma
C1402315  |  vascular lesions
C0850803  |  anaphylaxis
C0748324  |  renal obstruction
C0398623  |  hypercoagulability
C0302809  |  fulminant hepatitis
C0154841  |  central retinal vein occlusion
C0042951  |  volkmann's syndrome
C0038525  |  subarachnoid hemorrhage
C0037140  |  b virus infection
C0032285  |  pneumonitis
C0027726  |  nephrotic syndrome
C0023473  |  chronic myeloid leukemia
C0019080  |  hemorrhage
C0019064  |  hemopericardium
C0008533  |  factor ix deficiency
C0005779  |  coagulopathy
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C0018944  |  hematoma  |  2
C0019080  |  hemorrhage  |  2
C0008533  |  factor ix deficiency  |  1
Manually Genotype(Total Manually Genotypes:1)
Gene Mutation DOI Article Title
F9-doi:10.1038/gim.2015.51Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:67)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs137852223NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139537090CT
rs137852226NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139537139AT
rs137852227NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139537144CT
rs137852228NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139537145GA
rs137852229NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139537158AC
rs137852230NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139541076AG
rs137852231NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139541085AC
rs137852232NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139541099CG
rs137852233NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139541114GA
rs137852234NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139541127AG
rs137852235NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139548450GC
rs137852236NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139548467AT
rs137852237NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139551112CT
rs137852238NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139551113GA
rs137852239NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139551196CT
rs137852240NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139551217CT
rs137852243NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139551223GC,T
rs137852244NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139551250CT
rs137852245NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139551251AT
rs137852246NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139560821TG
rs137852247NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139560852GA
rs137852248NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561565CT
rs137852249NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561566GA
rs137852250NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561577CT
rs137852251NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561602AG
rs137852252NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561683CT
rs137852253NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561694GC
rs137852254NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561710CT
rs137852255NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561743TC
rs137852256NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561749GT
rs137852257NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561754GA
rs137852258NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561820CT
rs137852259NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561821GA
rs137852260NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561829TA,C
rs137852261NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561835CA,T
rs137852262NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561865AG
rs137852263NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561902CT
rs137852265NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561925CA,T
rs137852266NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561992CA,T
rs137852267NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139562009GA
rs137852268NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139562013TC
rs137852269NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139562042TC
rs137852270NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139562054AT
rs137852271NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561805GT
rs137852272NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139548455CT
rs137852273NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561872GC
rs137852274NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139541126GA
rs137852275NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561755GA
rs137852276NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561917GT
rs137852277NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561916AG
rs137852278NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561913GC
rs137852279NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561557AT
rs137852280NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561941TA
rs137852281NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561874GC
rs137852283NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561836GC,T
rs267606792NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139560772GC
rs387906474NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139530816TC
rs387906475NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139530843GA
rs387906477NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139551082GT
rs387906478NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139551238GA
rs387906479NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561773GT
rs387906480NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139530795TA
rs387906481NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139530846TC
rs387906482109424102158F9umls:C0008533BeFreeSequencing the complete factor IX gene of 2 sisters with hemophilia B with different phenotypes and no family history of hemorrhagic diathesis revealed a common 5' splice site mutation in intron 3 (T6704C) in both and an additional missense mutation (I344T) in one.0.5461715482000F9X139561716TC
rs387906482NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139561716TC
rs587776735NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139537388TC
rs587776736NA2158F9umls:C0008533CLINVARNA0.546171548NAF9X139551081AG-
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:11)
HP ID HP Name MP ID MP Name Annotation
HP:0003645Prolonged partial thromboplastin timeMP:0012359increased partial thromboplastin timeincreased amount of time it takes blood to clot after the addition of phospholipid, calcium, and an activator, e.g., silica, kaolin; measure of the quality of the intrinsic and common coagulation pathways
HP:0002239Gastrointestinal hemorrhageMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0004846Prolonged bleeding after surgeryMP:0005606increased bleeding timegreater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
HP:0001058Poor wound healingMP:0002999abnormal bone healingdefects in the restoration of integrity to bone after trauma
HP:0002170Intracranial hemorrhageMP:0006203eye hemorrhagebleeding into the eye
HP:0005542Prolonged whole-blood clotting timeMP:0005606increased bleeding timegreater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
HP:0006298Prolonged bleeding after dental extractionMP:0005606increased bleeding timegreater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
HP:0005261Joint hemorrhageMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0003010Prolonged bleeding timeMP:0005606increased bleeding timegreater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
HP:0001934Persistent bleeding after traumaMP:0005606increased bleeding timegreater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
HP:0001892Abnormal bleedingMP:0005606increased bleeding timegreater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
Mapped by homologous gene(Total Items:16)
HP ID HP Name MP ID MP Name Annotation
HP:0000790HematuriaMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0005261Joint hemorrhageMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0002758OsteoarthritisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0011858Reduced factor IX activityMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0004406Spontaneous, recurrent epistaxisMP:0013241embryo tissue necrosismorphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage
HP:0003010Prolonged bleeding timeMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0001058Poor wound healingMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0006298Prolonged bleeding after dental extractionMP:0005606increased bleeding timegreater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
HP:0012233Intramuscular hematomaMP:0011110preweaning lethality, incomplete penetrancethe appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
HP:0004846Prolonged bleeding after surgeryMP:0009763increased sensitivity to induced morbidity/mortalitydecrease in the amount of an external agent required to cause death or diseased state
HP:0001892Abnormal bleedingMP:0020138delayed bone mineralizationlate onset of the process by which minerals are deposited into bone
HP:0002170Intracranial hemorrhageMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001934Persistent bleeding after traumaMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0002239Gastrointestinal hemorrhageMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0005542Prolonged whole-blood clotting timeMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0003645Prolonged partial thromboplastin timeMP:0020215impaired blood coagulationimpaired ability of the blood to clot
Disease ID 196
Disease hemophilia b
Case(Waiting for update.)