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.

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 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.

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

Search interest in CFH

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.

CFH gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CFH 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 CFH gene

BASAL LAMINAR DRUSEN

Alternate names

Most common symptoms of BASAL LAMINAR DRUSEN

MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4

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

HELLP SYNDROME

Alternate names

Description

Most common symptoms of HELLP SYNDROME

FAMILIAL DRUSEN

Alternate names

Most common symptoms of FAMILIAL DRUSEN

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

IMMUNODEFICIENCY WITH FACTOR H ANOMALY

Alternate names

Description

Most common symptoms of IMMUNODEFICIENCY WITH FACTOR H ANOMALY

IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS

Alternate names

Description

Most common symptoms of IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH H FACTOR ANOMALY

Alternate names

Search interest in CFH

Potential gene panels for CFH gene

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

Test for CFH-Related Atypical Hemolytic-Uremic Syndrome Panel

AHUS/MPGN panel Panel

Genetic Renal Panel Panel

Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel Panel

CFH Sequencing Panel

Thrombocytopenia Sequencing Panel Panel

Thrombocytopenia Deletion/Duplication Panel Panel

Exome PLUS Proteinuria/FSGS & Hematuria Panel

CFH mutation analysis Panel

CFH. Complete sequencing Panel

CFH. Complete sequencing Panel

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

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

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

CFH Sequence Analysis Panel

Atypical hemolytic-uremic syndrome 1 Panel

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

AHUS/MPGN panel Panel

Atypical Hemolytic-Uremic Syndrome Panel Panel

Macular degeneration, age-related, 4 Panel

Membranoproliferative glomerulonephritis Panel

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

Atypical hemolytic uremic syndrome Panel

Atypical hemolytic-uremic syndrome Panel

Hereditary kidney disorders - different panels Panel

CFH-Related Atypical Hemolytic-Uremic Syndrome Panel

Atypical hemolytic uremic syndrome panel Panel

Age-related macular degeneration (ARMD) Panel

Hemolytic Uremic Syndrome Panel Panel

Single gene testing CFH Panel

Complement deficiencies Panel Panel

Syndromes with immunodeficiency Panel Panel

Eye diseases comprehensive panel Panel

Retinal Dystrophy Panel Panel

MVL Vision Panel Panel

Test for CFH-Related Atypical Hemolytic-Uremic Syndrome Panel

aHUS/DDD Genetic Evaluation Panel

aCGH Deletion/Duplication Analysis Panel

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