CFI gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CFI gene

Symptoms // Phenotype % Cases
Proteinuria Common - Between 50% and 80% cases
Blindness Uncommon - Between 30% and 50% cases
Hemolytic-uremic syndrome Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Hematuria
  • Visual loss
  • Drusen
  • Macular degeneration
  • Renal insufficiency
  • Rarely - Less than 30% cases

  • Choroidal neovascularization
  • Macular scar
  • Cerebral hemorrhage

And 60 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CFI gene

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


IMMUNODEFICIENCY WITH FACTOR I ANOMALY


Alternate names

IMMUNODEFICIENCY WITH FACTOR I ANOMALY Is also known as complement component 3 inactivator deficiency, c3 inactivator deficiency

Description

Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.

Most common symptoms of IMMUNODEFICIENCY WITH FACTOR I ANOMALY

  • Fever
  • Renal insufficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections


More info about IMMUNODEFICIENCY WITH FACTOR I ANOMALY

SOURCES: OMIM MESH ORPHANET

MACULAR DEGENERATION, AGE-RELATED, 13; ARMD13


Description

Age-related macular degeneration (ARMD) is a multifactorial disorder of the central retina that is the most prevalent cause of progressive vision loss in the developed world. As in other chronic age-related diseases, most cases result from interplay between multiple environmental and genetic factors, with a resultant spectrum of phenotypes. In rare cases, ARMD may manifest early, but there is an exponential rise in prevalence after the age of 60 years (summary by Pras et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration (ARMD), see {603075}.

Most common symptoms of MACULAR DEGENERATION, AGE-RELATED, 13; ARMD13

  • Blindness
  • Visual loss
  • Progressive visual loss
  • Macular degeneration
  • Drusen


More info about MACULAR DEGENERATION, AGE-RELATED, 13; ARMD13

SOURCES: OMIM

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

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY


Alternate names

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY Is also known as atypical hus with i factor anomaly, d-hus with i factor anomaly, ahus, susceptibility to, 3, hemolytic-uremic syndrome without diarrhea with i factor anomaly, ahus with i factor anomaly

Most common symptoms of ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY

  • Anemia
  • Hypertension
  • Thrombocytopenia
  • Proteinuria
  • Hemolytic anemia


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

SOURCES: OMIM ORPHANET


Potential gene panels for CFI gene

Test for CFI-Related Atypical Hemolytic-Uremic Syndrome Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the CFI 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

CFI 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 CFI gene.

More info about this panel

CFI Deletion/duplication analysis 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 CFI gene.

More info about this panel

aHUS Genetic Susceptibility Deletion/duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center aHUS Genetic Susceptibility Deletion/duplication panel that also includes the following genes: CFB THBD C3 DGKE CFI

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

CFI. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CFI gene.

More info about this panel

CFI. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CFI gene.

More info about this panel

Hemolytic uremic syndrome 2, atypical (AHUS2, deletion/duplication analysis of CD46 and CFI gene) Panel

Portugal.

By CGC Genetics Hemolytic uremic syndrome 2, atypical (AHUS2, deletion/duplication analysis of CD46 and CFI gene) that also includes the following genes: CFI CD46

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 (sequence analysis of CFI gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CFI gene.

More info about this panel

CFI Sequence Analysis Panel

Netherlands.

By Translational Metabolic Laboratory Radboud University Medical Centre

This panel specifically test the CFI gene.

More info about this panel

Atypical hemolytic-uremic syndrome 3 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CFI 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

Complement factor I deficiency Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CFI gene.

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

CFI-Related Atypical Hemolytic-Uremic Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CFI gene.

More info about this panel

CFI Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the CFI 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

Hemolytic uremic syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CFI 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 CFI-Related Atypical Hemolytic-Uremic Syndrome Panel

Spain.

By Secugen SL

This panel specifically test the CFI 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

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

CFI Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CFI gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

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

Complement factor I deficiency Panel

Spain.

By Bioarray

This panel specifically test the CFI gene.

More info about this panel

Afibrinogenemia Panel

Spain.

By Bioarray

This panel specifically test the CFI 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

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 CFI Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CFI gene.

More info about this panel

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

Spain.

By Reference Laboratory Genetics

This panel specifically test the CFI 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


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