CD46 gene related symptoms and diseases
All the information presented here about the CD46 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CD46 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Renal insufficiency | Very Common - Between 80% and 100% cases |
| Thrombocytopenia | Very Common - Between 80% and 100% cases |
| Proteinuria | Very Common - Between 80% and 100% cases |
| Hypertension | Very Common - Between 80% and 100% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CD46 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hematuria
- Microangiopathic hemolytic anemia
- Anuria
- Increased blood urea nitrogen
- Hemolytic-uremic syndrome
- Elevated serum creatinine
- Acute kidney injury
- Portal hypertension
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CD46 gene
Here you will find a list of rare diseases related to the CD46. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH MCP/CD46 ANOMALY
Alternate names
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH MCP/CD46 ANOMALY Is also known as ahus with mcp/cd46 anomaly, hemolytic-uremic syndrome without diarrhea with mcp/cd46 anomaly, ahus, susceptibility to, 2, atypical hus with mcp/cd46 anomaly, d-hus with mcp/cd46 anomaly
Most common symptoms of ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH MCP/CD46 ANOMALY
- Hypertension
- Renal insufficiency
- Thrombocytopenia
- Proteinuria
- Stage 5 chronic kidney disease
More info about ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH MCP/CD46 ANOMALY
Search interest in CD46
Potential gene panels for CD46 gene
Test for CD46-Related Atypical Hemolytic-Uremic Syndrome Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the CD46 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.
MCP 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 CD46 gene.
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.
CD46. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CD46 gene.
More info about this panel Spain.
MCP. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CD46 gene.
More info about this panel Spain.
MCP. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CD46 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.
Hemolytic uremic syndrome, atypical 2 (sequence analysis of CD46 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CD46 gene.
More info about this panel Portugal.
CD46 (MCP) Sequence Analysis Panel
Netherlands.
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the CD46 gene.
More info about this panel Netherlands.
Atypical hemolytic-uremic syndrome 2 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CD46 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.
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.
CD46-Related Atypical Hemolytic-Uremic Syndrome Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the CD46 gene.
More info about this panel Germany.
CD46 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the CD46 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 CD46 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.
CD46-Related Atypical Hemolytic-Uremic Syndrome Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the CD46 gene.
More info about this panel Israel.
Test for CD46-Related Atypical Hemolytic-Uremic Syndrome Panel
Spain.
By Secugen SL
This panel specifically test the CD46 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: CD46 (MCP) gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CD46 gene.
More info about this panel Spain.
Hemolytic uremic syndrome: CD46 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CD46 gene.
More info about this panel Spain.
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.
CD46 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CD46 gene.
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.
Van Der Woude syndrome Panel
Spain.
By Bioarray
This panel specifically test the CD46 gene.
More info about this panel Spain.
Atypical hemolytic uremic syndrome 2 Panel
Spain.
By Bioarray
This panel specifically test the CD46 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 CD46 (MCP) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CD46 gene.
More info about this panel Spain.
Atypical Hemolytic Uremic Syndrome, Deletions-Duplications (MLPA) CD46 (MCP) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CD46 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.
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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