CFHR1 gene related symptoms and diseases

All the information presented here about the CFHR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CFHR1 gene

Symptoms // Phenotype % Cases
Hematuria Uncommon - Between 30% and 50% cases
Scarring Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Renal insufficiency 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 CFHR1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Proteinuria
  • Hypertension
  • Nephropathy
  • Rarely - Less than 30% cases

  • Reticulocytosis
  • Acute kidney injury
  • Azotemia
  • Elevated serum creatinine
  • Enterocolitis

And 58 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 CFHR1 gene

Here you will find a list of rare diseases related to the CFHR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1


Alternate names

MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Is also known as maculopathy, age-related, 1

Description

Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular DegenerationARMD2 (OMIM ) is associated with mutation in the ABCR gene (OMIM ) on chromosome 1p, and ARMD3 (OMIM ) is caused by mutation in the FBLN5 gene (OMIM ) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4 ) appears to be explained by a polymorphism in the CFH gene ({134370.0008}). ARMD5 (OMIM ) and ARMD6 (OMIM ) are associated with mutation in the ERCC6 (OMIM ) and RAX2 (OMIM ) genes, respectively. ARMD7 (OMIM ) and ARMD8 (OMIM ), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (OMIM ) and ARMS2 (OMIM ) genes, respectively. ARMD9 (OMIM ) is associated with single-nucleotide polymorphisms in the C3 gene (OMIM ). ARMD10 (OMIM ) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (OMIM ). ARMD11 (OMIM ) is association with variation in the CST3 gene (OMIM ); ARMD12 (OMIM ) with variation in the CX3CR1 gene (OMIM ); and ARMD13 (OMIM ) with variation in the CFI gene (OMIM ). ARMD14 (OMIM ) is associated with variation in or near the C2 (OMIM ) and CFB (OMIM ) genes on chromosome 6p21. ARMD15 (OMIM ) is associated with variation in the C9 gene (OMIM ). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (OMIM ).A haplotype carrying deletion of the complement factor H-related genes CFHR1 (OMIM ) and CFHR3 (OMIM ) is also associated with reduced risk of ARMD.Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.

Most common symptoms of MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

  • Cataract
  • Visual impairment
  • Hypertension
  • Blindness
  • Visual loss


More info about MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

SOURCES: MESH OMIM

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

C3 GLOMERULONEPHRITIS


Most common symptoms of C3 GLOMERULONEPHRITIS

  • Fever
  • Renal insufficiency
  • Proteinuria
  • Scarring
  • Stage 5 chronic kidney disease


More info about C3 GLOMERULONEPHRITIS

SOURCES: OMIM ORPHANET

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH ANTI-FACTOR H ANTIBODIES


Alternate names

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


More info about ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH ANTI-FACTOR H ANTIBODIES

SOURCES: ORPHANET


Potential gene panels for CFHR1 gene

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

CFHR1 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 CFHR1 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

CFHR1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CFHR1 gene.

More info about this panel

Hemolytic uremic syndrome, atypical, susceptibility to (sequence analysis of CFHR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CFHR1 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

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

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

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

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

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

Hemolytic uremic syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CFHR1 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

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

Test for CFHR1-Related Atypical Hemolytic Uremic Syndrome Panel

Spain.

By Secugen SL

This panel specifically test the CFHR1 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 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

CFHR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CFHR1 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: 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 , 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

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 NR2F1 DSC2 MN1 EFEMP1 MYO1E CAMTA1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more