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.
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
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).
Most common symptoms of HELLP SYNDROME
- Seizures
- Hypertension
- Intrauterine growth retardation
- Edema
- Renal insufficiency
More info about HELLP SYNDROME
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
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
Search interest in CFI
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 Netherlands.
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 Netherlands.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Portugal.
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 Portugal.
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 Portugal.
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 Netherlands.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
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 United Kingdom.
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 Germany.
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 Germany.
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 Germany.
CFI Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the CFI gene.
More info about this panel Netherlands.
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 Germany.
Hemolytic uremic syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CFI gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Spain.
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 United States.
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 United States.
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 Spain.
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 United States.
CFI Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CFI gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Finland.
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 Finland.
Complement factor I deficiency Panel
Spain.
By Bioarray
This panel specifically test the CFI gene.
More info about this panel Spain.
Afibrinogenemia Panel
Spain.
By Bioarray
This panel specifically test the CFI gene.
More info about this panel Spain.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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