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PedAM

Pediatric Disease Annotations & Medicines



   severe hemophilia a
  

Disease ID 1197
Disease severe hemophilia a
Definition
Severe disease manifests factor VIII activity of less than 1%, except in the U.K. and Italy, where severe disease includes factor VIII activity levels of less than 2%
Synonym
hemophilia a, severe
less than 1% of normal factor viii
severe haemophilia a
severe hemophilia a (disorder)
severe hereditary factor viii deficiency disease
severe hereditary factor viii deficiency disease (disorder)
Orphanet
UMLS
C0272322
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:7)
C0023470  |  myelogenous leukemia  |  1
C0041408  |  turner syndrome  |  1
C0022408  |  arthropathy  |  1
C0019069  |  hemophilia  |  1
C0023418  |  leukemia  |  1
C0042974  |  von willebrand disease  |  1
C0023467  |  acute myelogenous leukemia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
F8  |  2157  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:1)
F8  |  Xq28
Disease ID 1197
Disease severe hemophilia a
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:3)
HP:0001909  |  Leukemia  |  1
HP:0004808  |  Acute myelogenous leukemia  |  1
HP:0003040  |  Arthropathy  |  1
Disease ID 1197
Disease severe hemophilia a
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:4)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1800294241085392157F8umls:C0272322BeFreeNevertheless, the mutations p.Asp845Glu, p.Pro947Arg, p.Glu1057Lys, p.His1066Tyr, p.Arg1126Trp, p.Arg1329His, p.Leu1481Pro, and p.Ala1610Ser resulted in decreased FVIII:C values that may explain mild HA phenotypes.0.1284146982013F8X154929348AG
rs199630813241085392157F8umls:C0272322BeFreeNevertheless, the mutations p.Asp845Glu, p.Pro947Arg, p.Glu1057Lys, p.His1066Tyr, p.Arg1126Trp, p.Arg1329His, p.Leu1481Pro, and p.Ala1610Ser resulted in decreased FVIII:C values that may explain mild HA phenotypes.0.1284146982013F8X154930414TA
rs200316756241085392157F8umls:C0272322BeFreeNevertheless, the mutations p.Asp845Glu, p.Pro947Arg, p.Glu1057Lys, p.His1066Tyr, p.Arg1126Trp, p.Arg1329His, p.Leu1481Pro, and p.Ala1610Ser resulted in decreased FVIII:C values that may explain mild HA phenotypes.0.1284146982013F8X154931255GT
rs28933673241085392157F8umls:C0272322BeFreeNevertheless, the mutations p.Asp845Glu, p.Pro947Arg, p.Glu1057Lys, p.His1066Tyr, p.Arg1126Trp, p.Arg1329His, p.Leu1481Pro, and p.Ala1610Ser resulted in decreased FVIII:C values that may explain mild HA phenotypes.0.1284146982013F8X154930621CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)