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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   complement factor h deficiency
  

Disease ID 1592
Disease complement factor h deficiency
Synonym
cfh deficiency
cfhd
factor h deficiency
factor h deficiency (disorder)
OMIM
UMLS
C0398777
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0019061  |  hemolytic uremic syndrome  |  2
C0022658  |  renal disease  |  2
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
3075  |  CFH  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1592
Disease complement factor h deficiency
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:7)
HP:0005389  |  Depletion of components of the alternative complement pathway
HP:0002718  |  Recurrent pyogenic infections
HP:0004746  |  Dense deposit disease
HP:0000790  |  Hematuria
HP:0012622  |  Chronic kidney disease
HP:0004722  |  Thickening of the glomerular basement membrane
HP:0005369  |  Decreased serum complement factor H
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:3)
Disease ID 1592
Disease complement factor h deficiency
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0302810  |  uremic syndrome
C0019061  |  hemolytic uremic syndrome
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C0019061  |  hemolytic uremic syndrome  |  2
C0022658  |  renal disease  |  1
C0302810  |  uremic syndrome  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:7)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121913052NA3075CFHumls:C0398777CLINVARNA0.482171535NACFH1196715679TC
rs121913053NA3075CFHumls:C0398777CLINVARNA0.482171535NACFH1196740712GA
rs121913054NA3075CFHumls:C0398777CLINVARNA0.482171535NACFH1196677613GA,T
rs121913056NA3075CFHumls:C0398777CLINVARNA0.482171535NACFH1196690194TA,G
rs121913058NA3075CFHumls:C0398777CLINVARNA0.482171535NACFH1196676018GA,T
rs121913059NA3075CFHumls:C0398777CLINVARNA0.482171535NACFH1196747245CT
rs796052138NA3075CFHumls:C0398777CLINVARNA0.482171535NACFH1196679674AGA-
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:5)
HP ID HP Name MP ID MP Name Annotation
HP:0005369Decreased serum complement factor HMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0004722Thickening of the glomerular basement membraneMP:0004465degeneration of organ of Corti supporting cellsdegeneration or loss of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti
HP:0005389Depletion of components of the alternative complement pathwayMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0012622Chronic kidney diseaseMP:0011565kidney papillary hypoplasiaunderdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx
HP:0002718Recurrent bacterial infectionsMP:0009788increased susceptibility to bacterial infection induced morbidity/mortalityincreased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria
Mapped by homologous gene(Total Items:7)
HP ID HP Name MP ID MP Name Annotation
HP:0005369Decreased serum complement factor HMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0000790HematuriaMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0012622Chronic kidney diseaseMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0005389Depletion of components of the alternative complement pathwayMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0004722Thickening of the glomerular basement membraneMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0002718Recurrent bacterial infectionsMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0004746Dense deposit diseaseMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
Disease ID 1592
Disease complement factor h deficiency
Case(Waiting for update.)