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URL: http://www.FH-HUS.org

Proper Citation: FH HUS Mutation Database (RRID:SCR_008512)

Description: The database has now been updated to include ALL mutations found in HUS patients, including those in Factor I(FI) and Membrane (MCP). Homology models are available for the domains of FI and MCP and all analysis previously available for Factor H (FH) are now also available for FI and MCP. All SNP records for FH, FI and MCP are also now included in the database on the SNP pages. Only those SNPs within coding regions will be included in the full list of mutations and within the advanced search. For more information on the different versions of the database click here. We have also redesigned the site in order to display information more clearly. Please let us know what you think of the new design. Home Information Mutations Models References Links Submit Contact Us Help Collaborators NEWS !! SEP 2009 The database has now been recovered. Please report any bugs that you notice. NEWS !! MAY 2009 We have suffered from a complete server failure this month but these issues have been sorted out and work is being carried out to restore all the data within our FH-HUS database. Sorry for any inconvenience this may have caused. NEWS !! JAN 2007 Mutations within complement Factor B have also been associated with aHUS. (Goicoechea de Jorge et al., 2007) NEW !! Nov 2006 FH-HUS Database Version 2.1 The database has now been updated to include ALL mutations found in HUS patients, including those in Factor I(FI) and Membrane (MCP). Homology models are available for the domains of FI and MCP and all analysis previously available for Factor H (FH) are now also available for FI and MCP. All SNP records for FH, FI and MCP are also now included in the database on the SNP pages. Only those SNPs within coding regions will be included in the full list of mutations and within the advanced search. For more information on the different versions of the database click here. We have also redesigned the site in order to display information more clearly. Please let us know what you think of the new design. Quick Search Enter Codon No : Choose Protein : Advanced Search Have you or someone you know been diagnosed with aHUS? The information contained on this web site is provided for scientific research purposes only. We do not give medical advice or recommend any particular treatment for specific individuals. Here are several links for patient information on aHUS: http://renux.dmed.ed.ac.uk/ http://en.wikipedia.org/ http://kidney.niddk.nih.gov http://www.webmd.com HUS HUS (Haemolytic Uraemic Syndrome) is a disease associated with microangiopathic haemolytic anemia, thrombocytopenia and acute renal failure. A subgroup of the syndrome is strongly associated with abnormalities within the complement regulator factor H gene. To read information on HUS click here. To read information on Factor H (FH) click here. FH Mutations There are currently 74 Factor H mutations, 10 Factor I mutations and 25 MCP mutations linked with HUS patients within this database. There are also 5 mutations within FH that are associated with MPGN patients. . Following HGVS guidelines, mutations are numbered starting from the ATG initiation codon and include the 18-residue signal peptide. The number of the codon with respect to the mature FH protein and consistent with the RSCB PDB entry for secreted FH (1haq.pdb) is shown alongside in parenthesis. Type I and Type II Phenotype Type I indicates that the mutant protein is either absent from the plasma or present in lower amounts. This indicates the mutation has a structural effect on the mutant protein - ie reducing the stability Type II indicates that the mutant protein is present in normal amounts in plasma. This indicates that the mutation has a functional effect on the protein ie affecting substrate binding References There are three references you can use to reference this database Saunders et al, 2007. The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models. Hum Mutat. 2007 28:222-234. Saunders et al, 2006. An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations. Hum Mutat. 2006 27:21-30. Saunders & Perkins, 2006. A user''s guide to the interactive Web database of factor H-associated hemolytic uremic syndrome. Semin Thromb Hemost. 2006 32:160-8. Abstract. BACKGROUND: cblC disease is a cause of hemolytic uremic syndrome (HUS), which has been primarily described in neonates and infants with severe renal and neurological lesions. PATIENTS: Two sisters aged 6 and 8.5 years presented with a latent hemolytic process characterized by undetectable or low plasma haptoglobin, respectively, associated with renal failure and gross proteinuria. Renal biopsies performed in both patients found typical findings of thrombotic microangiopathy suggesting the diagnosis of HUS. Both patients were free of neurologic signs. RESULTS: Biochemical investigations found a cobalamin processing deficiency of the cblC type. Search for additional factors susceptible to worsen endothelial damage revealed homozygosity 677C--> T mutation in the methylenetetrahydrofolate reductase gene as well as heterozygosity for a 3254T--> C mutation in factor H in the patient with the most severe clinical presentation. Long-term subcutaneous administration of hydroxocobalamin in combination with oral betaine and folic acid resulted in clinical and biological improvement in both patients. CONCLUSION: cblC disease may be a cause of chronic HUS with delayed onset in childhood. Superimposed mutation of factor H gene might influence clinical severity.

Synonyms: FH HUS Mutation Database

Resource Type: database, data or information resource