Complement Factor H Deficiency; Cfhd

Description

Complement factor H deficiency (CFHD) can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3 (OMIM ), and a decrease in other alternative pathway components, indicating activation of the alternative complement pathway. Homozygotes and heterozygotes may show increased susceptibility to meningococcal infections. In addition, a number of renal diseases have been associated with factor H defect or deficiency, including atypical hemolytic-uremic syndrome (aHUS ), membranoproliferative glomerulonephritis type II (MPGN II), and nonspecific hematuria or nephritis (Ault, 2000). See also complement factor I deficiency (OMIM ), which shows phenotypic overlap with this disorder.Welch (2002) discussed the role of complement in renal disease. Membranoproliferative Glomerulonephritis type IIAbrera-Abeleda et al. (2006) summarized features of MPGN relevant to the complement cascade. MPGN type II, also known as dense deposit disease, causes chronic renal dysfunction that progresses to end-stage renal disease in about half of patients within 10 years of diagnosis. MPGN types I and III are variants of immune complex-mediated disease; MPGN II, in contrast, has no known association with immune complexes (Appel et al., 2005). MPGN II accounts for less than 20% of cases of MPGN in children and only a fractional percentage of cases in adults. Both sexes are affected equally, with the diagnosis usually made in children between the ages of 5 and 15 years who present with nonspecific findings such as hematuria, proteinuria, acute nephritic syndrome, or nephrotic syndrome. More than 80% of patients with MPGN II are positive for serum C3 nephritic factor (C3NeF), an autoantibody directed against C3bBb, the convertase of the alternative pathway of the complement cascade. C3NeF prolongs the half-life of C3 convertase. Patients with MPGN type II without C3NeF often have mutations in the CFH gene, which also results in prolonged activation of C3 convertase.

Clinical Features

Top most frequent phenotypes and symptoms related to Complement Factor H Deficiency; Cfhd

  • Pica
  • Renal insufficiency
  • Thrombocytopenia
  • Erythema
  • Proteinuria
  • Respiratory tract infection
  • Ranula
  • Autoimmunity
  • Nephropathy
  • Sepsis
And another 19 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Complement Factor H Deficiency; Cfhd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CFH
Specificity
100 %
Genes
100 %
Test for CFH-Related Atypical Hemolytic-Uremic Syndrome.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CFH
Specificity
100 %
Genes
100 %
AHUS/MPGN panel.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, APLN
Specificity
13 %
Genes
100 %
Genetic Renal Panel.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, PLG, ADAMTS13
Specificity
8 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE
Specificity
10 %
Genes
100 %
CFH Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CFH
Specificity
100 %
Genes
100 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Exome PLUS Proteinuria/FSGS & Hematuria.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

WT1, ALMS1, LMX1B, PAX2, GLA, TSC2, TSC1, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, MYH9, CFB, CFI , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
CFH mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CFH
Specificity
100 %
Genes
100 %
CFH. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CFH
Specificity
100 %
Genes
100 %
CFH. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CFH
Specificity
100 %
Genes
100 %
Hemolytic uremic syndrome 1, atypical (sequence analysis of CFH gene).

By CGC Genetics in Portugal.

CFH
Specificity
100 %
Genes
100 %
Hemolytic uremic syndrome 1, atypical (AHUS1, deletions/ duplications analysis on CFH gene).

By CGC Genetics in Portugal.

CFH
Specificity
100 %
Genes
100 %
Atypical hemolytic uremic syndrome (NGS panel for 14 genes).

By CGC Genetics in Portugal.

MMACHC, LMNA, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4
Specificity
8 %
Genes
100 %
CFH Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

CFH
Specificity
100 %
Genes
100 %
Atypical hemolytic-uremic syndrome 1.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFH, CFHR1, CFHR3
Specificity
34 %
Genes
100 %
Test for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFH
Specificity
100 %
Genes
100 %
AHUS/MPGN panel.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, ADAMTS13, CFHR4, CLU, CFHR2
Specificity
8 %
Genes
100 %
Atypical Hemolytic-Uremic Syndrome Panel.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, ADAMTS13, CFHR4, CLU, CFHR2
Specificity
8 %
Genes
100 %
Macular degeneration, age-related, 4.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFH
Specificity
100 %
Genes
100 %
Membranoproliferative glomerulonephritis.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MTHFR, CFH, CFHR5, C1QB, PLA2R1
Specificity
20 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
100 %
Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
100 %
Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
100 %
Atypical hemolytic uremic syndrome.

By Northern Molecular Genetics Service Newcastle Upon Tyne Hospitals NHS Foundation Trust in United Kingdom.

MMACHC, INF2, CFB, CFI, CFH, CD46, C3, THBD, DGKE, ADAMTS13, C5
Specificity
10 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Atypical hemplytic-uremic syndrome.

By Institute of Human Genetics Cologne University in Germany.

MMACHC, CFI, CFH, CD46, C3, DGKE
Specificity
17 %
Genes
100 %
CFH-Related Atypical Hemolytic-Uremic Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

CFH
Specificity
100 %
Genes
100 %
Atypical hemolytic uremic syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, CFHR2
Specificity
8 %
Genes
100 %
Age-related macular degeneration (ARMD).

By Centogene AG - the Rare Disease Company in Germany.

CFH
Specificity
100 %
Genes
100 %
Hemolytic Uremic Syndrome Panel.

By CeGaT GmbH in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4
Specificity
9 %
Genes
100 %
Single gene testing CFH.

By CeGaT GmbH in Germany.

CFH
Specificity
100 %
Genes
100 %
Complement deficiencies Panel.

By CeGaT GmbH in Germany.

PIGA, CFB, CFI, CFH, CD46, C3, THBD, C1S, C1R, CFHR1, CFHR3, DGKE, MASP1, C7, FCN3, CFD, C2, SERPING1, C1QC, C1QA , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
Test for CFH-Related Atypical Hemolytic-Uremic Syndrome.

By Secugen SL in Spain.

CFH
Specificity
100 %
Genes
100 %
aHUS/DDD Genetic Evaluation.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

LMNA, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, C4BPA, C4BPB
Specificity
7 %
Genes
100 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Hemolytic uremic syndrome: CFH (HF1) gene sequence analysis (exons 18-22).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CFH
Specificity
100 %
Genes
100 %
Hemolytic uremic syndrome: CFH gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CFH
Specificity
100 %
Genes
100 %
Hemolytic-uremic, syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, CFHR4, CFHR2
Specificity
10 %
Genes
100 %
Macular Degeneration NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, TLR4, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, EFEMP1, HTRA1, RAX2, HMCN1, ERCC6, CFB, CFI, CFH, C3, C2, CST3, CX3CR1
Specificity
5 %
Genes
100 %
CFH.

By Fulgent Genetics Fulgent Genetics in United States.

CFH
Specificity
100 %
Genes
100 %
Macular Degeneration Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

CFH, ARMS2
Specificity
50 %
Genes
100 %
Macular Degeneration Mutation Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

CFH, ARMS2
Specificity
50 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Complement System Disorder Panel.

By Blueprint Genetics in Finland.

CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Hemolytic Uremic Syndrome Panel.

By Blueprint Genetics in Finland.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, DGKE, ADAMTS13
Specificity
12 %
Genes
100 %
Atypical hemolytic uremic syndrome 1.

By Bioarray in Spain.

CFH
Specificity
100 %
Genes
100 %
Complement factor H deficiency.

By Bioarray in Spain.

CFH
Specificity
100 %
Genes
100 %
aHUS/TMA/C3 Glomerulopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, CFHR2
Specificity
8 %
Genes
100 %
ATYPICAL HEMOLYTIC UREMIC SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CFB, CFI, CFH, CD46, THBD, DGKE
Specificity
17 %
Genes
100 %
BENIGN FAMILIAL HEMATURIA.

By Laboratorio de Genetica Clinica SL in Spain.

COL4A3, CFH
Specificity
50 %
Genes
100 %
ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, C1S, CFHR1, CFHR3, DGKE, C2, C9, C8A
Specificity
7 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome, Sequencing CFH Gene.

By Reference Laboratory Genetics in Spain.

CFH
Specificity
100 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome, Sequencing Exons (18-22) CFH (HF1) Gene.

By Reference Laboratory Genetics in Spain.

CFH
Specificity
100 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome , Deletions-Duplications (MLPA) CFH Gene.

By Reference Laboratory Genetics in Spain.

CFH
Specificity
100 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, CFHR4
Specificity
10 %
Genes
100 %
Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes.

By Reference Laboratory Genetics in Spain.

FBLN5, ABCA4, HTRA1, RAX2, HMCN1, ERCC6, CFB, CFI, CFH, C3, C2, CST3, ARMS2, C9, CX3CR1
Specificity
7 %
Genes
100 %
Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFP
Specificity
9 %
Genes
100 %

Alternate names

Complement Factor H Deficiency; Cfhd Is also known as factor h deficiency, cfh deficiency;.


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