CFH gene related symptoms and diseases

All the information presented here about the CFH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CFH gene

Symptoms // Phenotype % Cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Macular degeneration Uncommon - Between 30% and 50% cases
Stage 5 chronic kidney disease Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CFH gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Drusen
  • Hypertension
  • Hemolytic-uremic syndrome
  • Rarely - Less than 30% cases

  • Visual loss
  • Membranoproliferative glomerulonephritis
  • Decreased serum complement factor H
  • Glomerulonephritis
  • Anemia

And 73 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to CFH gene

Here you will find a list of rare diseases related to the CFH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BASAL LAMINAR DRUSEN


Alternate names

BASAL LAMINAR DRUSEN Is also known as drusen of bruch membrane, drusen, cuticular, drusen, early adult-onset, grouped

Most common symptoms of BASAL LAMINAR DRUSEN

  • Visual loss
  • Retinal degeneration
  • Progressive visual loss
  • Macular degeneration
  • Macular dystrophy


More info about BASAL LAMINAR DRUSEN

SOURCES: MESH OMIM

MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4


Most common symptoms of MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4

  • Macular degeneration


More info about MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4

SOURCES: OMIM MESH

HELLP SYNDROME


Alternate names

HELLP SYNDROME Is also known as hemolysis-elevated liver enzymes-low platelets syndrome, toxemia of pregnancy, hemolysis, elevated liver enzymes, low platelets in pregnancy, preg1, pee

Description

Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

Most common symptoms of HELLP SYNDROME

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency


More info about HELLP SYNDROME

SOURCES: OMIM ORPHANET MESH

FAMILIAL DRUSEN


Alternate names

FAMILIAL DRUSEN Is also known as doyne honeycomb degeneration of retina, malattia leventinese, dominant drusen, dhd, doyne honeycomb retinal dystrophy, dominant radial drusen, dhrd

Most common symptoms of FAMILIAL DRUSEN

  • Neoplasm
  • Visual impairment
  • Blindness
  • Visual loss
  • Retinal degeneration


More info about FAMILIAL DRUSEN

SOURCES: OMIM ORPHANET

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Alternate names

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Description

Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

Most common symptoms of HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

SOURCES: OMIM ORPHANET

DENSE DEPOSIT DISEASE


Alternate names

DENSE DEPOSIT DISEASE Is also known as membranoproliferative glomerulonephritis type 2

Description

Dense deposit disease, a histological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term).


More info about DENSE DEPOSIT DISEASE

SOURCES: ORPHANET

IMMUNODEFICIENCY WITH FACTOR H ANOMALY


Alternate names

IMMUNODEFICIENCY WITH FACTOR H ANOMALY Is also known as factor h deficiency, cfh deficiency

Description

Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properin, complement C3 and terminal complement components.

Most common symptoms of IMMUNODEFICIENCY WITH FACTOR H ANOMALY

  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria
  • Abnormality of the kidney
  • Autoimmunity


More info about IMMUNODEFICIENCY WITH FACTOR H ANOMALY

SOURCES: ORPHANET OMIM

IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS


Alternate names

IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS Is also known as ig-mediated mpgn, immunoglobulin-mediated mpgn, ig-mediated membranoproliferative glomerulonephritis, nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis

Description

Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy (summary by Ozaltin et al., 2013).Atypical hemolytic uremic syndrome-7 is characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system (summary by Lemaire et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (OMIM ).For a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 (OMIM ).

Most common symptoms of IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS

  • Anemia
  • Hypertension
  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria


More info about IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS

SOURCES: ORPHANET OMIM

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH H FACTOR ANOMALY


Alternate names

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH H FACTOR ANOMALY Is also known as atypical hus with h factor anomaly, ahus with h factor anomaly, d-hus with h factor anomaly, hemolytic-uremic syndrome without diarrhea with h factor anomaly


More info about ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH H FACTOR ANOMALY

SOURCES: ORPHANET


Potential gene panels for CFH gene

Test for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the CFH gene.

More info about this panel

Test for CFH-Related Atypical Hemolytic-Uremic Syndrome Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the CFH gene.

More info about this panel

AHUS/MPGN panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht AHUS/MPGN panel that also includes the following genes: CFB THBD C3 APLN CFHR5 CFH CFI CD46

More info about this panel

Genetic Renal Panel Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics Genetic Renal Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel that also includes the following genes: CFB THBD C3 CFHR3 CFHR5 DGKE CFH CFHR1 CFI CD46

More info about this panel

CFH Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CFH gene.

More info about this panel

Thrombocytopenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5

More info about this panel

Thrombocytopenia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13

More info about this panel

Exome PLUS Proteinuria/FSGS & Hematuria Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13

More info about this panel

CFH mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the CFH gene.

More info about this panel

CFH. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CFH gene.

More info about this panel

CFH. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CFH gene.

More info about this panel

Hemolytic uremic syndrome 1, atypical (sequence analysis of CFH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CFH gene.

More info about this panel

Hemolytic uremic syndrome 1, atypical (AHUS1, deletions/ duplications analysis on CFH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CFH gene.

More info about this panel

Atypical hemolytic uremic syndrome (NGS panel for 14 genes) Panel

Portugal.

By CGC Genetics Atypical hemolytic uremic syndrome (NGS panel for 14 genes) that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 MMACHC CFHR5 DGKE CFH

More info about this panel

CFH Sequence Analysis Panel

Netherlands.

By Translational Metabolic Laboratory Radboud University Medical Centre

This panel specifically test the CFH gene.

More info about this panel

Atypical hemolytic-uremic syndrome 1 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Atypical hemolytic-uremic syndrome 1 that also includes the following genes: CFHR3 CFH CFHR1

More info about this panel

Test for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CFH gene.

More info about this panel

AHUS/MPGN panel Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders AHUS/MPGN panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CLU CFHR5 CFH CFHR1

More info about this panel

Atypical Hemolytic-Uremic Syndrome Panel Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Atypical Hemolytic-Uremic Syndrome Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CLU CFHR5 CFH CFHR1

More info about this panel

Macular degeneration, age-related, 4 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CFH gene.

More info about this panel

Membranoproliferative glomerulonephritis Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Membranoproliferative glomerulonephritis that also includes the following genes: C1QB CFHR5 CFH MTHFR PLA2R1

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

Atypical hemolytic uremic syndrome Panel

United Kingdom.

By Northern Molecular Genetics Service Newcastle Upon Tyne Hospitals NHS Foundation Trust Atypical hemolytic uremic syndrome that also includes the following genes: CFB THBD C3 C5 ADAMTS13 INF2 MMACHC DGKE CFH CFI

More info about this panel

Atypical hemolytic-uremic syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Atypical hemolytic-uremic syndrome that also includes the following genes: CFB THBD C3 MMACHC DGKE CFH CFI CD46

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

CFH-Related Atypical Hemolytic-Uremic Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CFH gene.

More info about this panel

Atypical hemolytic uremic syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Atypical hemolytic uremic syndrome panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE CFH CFHR1

More info about this panel

Age-related macular degeneration (ARMD) Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CFH gene.

More info about this panel

Hemolytic Uremic Syndrome Panel Panel

Germany.

By CeGaT GmbH Hemolytic Uremic Syndrome Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE CFH CFHR1

More info about this panel

Single gene testing CFH Panel

Germany.

By CeGaT GmbH

This panel specifically test the CFH gene.

More info about this panel

Complement deficiencies Panel Panel

Germany.

By CeGaT GmbH Complement deficiencies Panel that also includes the following genes: CFB THBD SERPING1 C1QA C1QB C1QC C1R C1S C2 C3

More info about this panel

Syndromes with immunodeficiency Panel Panel

Germany.

By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Test for CFH-Related Atypical Hemolytic-Uremic Syndrome Panel

Spain.

By Secugen SL

This panel specifically test the CFH gene.

More info about this panel

aHUS/DDD Genetic Evaluation Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aHUS/DDD Genetic Evaluation that also includes the following genes: CFB THBD C3 C4BPA C4BPB ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE

More info about this panel

aCGH Deletion/Duplication Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB

More info about this panel

Hemolytic uremic syndrome: CFH (HF1) gene sequence analysis (exons 18-22) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CFH gene.

More info about this panel

Hemolytic uremic syndrome: CFH gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CFH gene.

More info about this panel

Hemolytic-uremic, syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hemolytic-uremic, syndrome that also includes the following genes: CFB THBD C3 CFHR4 CFHR3 CFHR5 CFH CFHR1 CFHR2 CFI

More info about this panel

Macular Degeneration NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Macular Degeneration NGS Panel that also includes the following genes: RLBP1 RPGR CFB TLR4 C2 C3 ELOVL4 RAX2 HMCN1 CNGB3

More info about this panel

CFH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CFH gene.

More info about this panel

Macular Degeneration Mutation Analysis Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano Macular Degeneration Mutation Analysis that also includes the following genes: ARMS2 CFH

More info about this panel

Macular Degeneration Mutation Analysis (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano Macular Degeneration Mutation Analysis (NY) that also includes the following genes: ARMS2 CFH

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Complement System Disorder Panel Panel

Finland.

By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S

More info about this panel

Hemolytic Uremic Syndrome Panel Panel

Finland.

By Blueprint Genetics Hemolytic Uremic Syndrome Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR5 DGKE CFH CFI CD46

More info about this panel

Atypical hemolytic uremic syndrome 1 Panel

Spain.

By Bioarray

This panel specifically test the CFH gene.

More info about this panel

Complement factor H deficiency Panel

Spain.

By Bioarray

This panel specifically test the CFH gene.

More info about this panel

aHUS/TMA/C3 Glomerulopathy Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis aHUS/TMA/C3 Glomerulopathy Gene Set that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE CFH CFHR1

More info about this panel

ATYPICAL HEMOLYTIC UREMIC SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL ATYPICAL HEMOLYTIC UREMIC SYNDROME that also includes the following genes: CFB THBD C3 DGKE CFH CFI CD46

More info about this panel

BENIGN FAMILIAL HEMATURIA Panel

Spain.

By Laboratorio de Genetica Clinica SL BENIGN FAMILIAL HEMATURIA that also includes the following genes: COL4A3 CFH

More info about this panel

ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL that also includes the following genes: CFB THBD C1S C2 C3 C3AR1 C8A C9 CFHR4 CFHR3

More info about this panel

Atypical Hemolytic Uremic Syndrome, Sequencing CFH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CFH gene.

More info about this panel

Atypical Hemolytic Uremic Syndrome, Sequencing Exons (18-22) CFH (HF1) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CFH gene.

More info about this panel

Atypical Hemolytic Uremic Syndrome , Deletions-Duplications (MLPA) CFH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CFH gene.

More info about this panel

Atypical Hemolytic Uremic Syndrome , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Atypical Hemolytic Uremic Syndrome , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: CFB THBD C3 CFHR4 CFHR3 CFHR5 CFH CFHR1 CFI CD46

More info about this panel

Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes Panel

Spain.

By Reference Laboratory Genetics Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: CFB C2 C3 C9 RAX2 HMCN1 CST3 CX3CR1 ARMS2 ABCA4

More info about this panel

Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 CFHR5 DGKE CFH CFHR1 CFI

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COL25A1 ARG1 CNTN6 GFER KLKB1 MYO15A MMAA

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more