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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in CFHR1

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

CFHR1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CFHR1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to CFHR1 gene

MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

Alternate names

Description

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

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

Alternate names

Description

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

DENSE DEPOSIT DISEASE

Alternate names

Description

C3 GLOMERULONEPHRITIS

Most common symptoms of C3 GLOMERULONEPHRITIS

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH ANTI-FACTOR H ANTIBODIES

Alternate names

Search interest in CFHR1

Potential gene panels for CFHR1 gene

Genetic Renal Panel Panel

Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel Panel

CFHR1 Sequencing Panel

Thrombocytopenia Sequencing Panel Panel

Thrombocytopenia Deletion/Duplication Panel Panel

Exome PLUS Proteinuria/FSGS & Hematuria Panel

CFHR1. Complete sequencing Panel

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

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

Atypical hemolytic-uremic syndrome 1 Panel

AHUS/MPGN panel Panel

Atypical Hemolytic-Uremic Syndrome Panel Panel

Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel Panel

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

Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel Panel

Hereditary kidney disorders - different panels Panel

Atypical hemolytic uremic syndrome panel Panel

Hemolytic uremic syndrome Panel

Hemolytic Uremic Syndrome Panel Panel

Complement deficiencies Panel Panel

Test for CFHR1-Related Atypical Hemolytic Uremic Syndrome Panel

aHUS/DDD Genetic Evaluation Panel

aCGH Deletion/Duplication Analysis Panel

Hemolytic-uremic, syndrome Panel

CFHR1 Panel

aHUS/TMA/C3 Glomerulopathy Gene Set Panel

ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL Panel

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

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