Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3; Ahus3

Clinical Features

Top most frequent phenotypes and symptoms related to Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3; Ahus3

  • Anemia
  • Hypertension
  • Thrombocytopenia
  • Proteinuria
  • Hemolytic anemia
  • Hematuria
  • Acute kidney injury
  • Elevated serum creatinine
  • Hemolytic-uremic syndrome
  • Increased blood urea nitrogen
And another 2 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3; Ahus3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for CFI-Related Atypical Hemolytic-Uremic Syndrome.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CFI
Specificity
100 %
Genes
100 %
AHUS/MPGN panel.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, APLN
Specificity
13 %
Genes
100 %
Genetic Renal Panel.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, PLG, ADAMTS13
Specificity
8 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE
Specificity
10 %
Genes
100 %
CFI Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CFI
Specificity
100 %
Genes
100 %
CFI Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CFI
Specificity
100 %
Genes
100 %
aHUS Genetic Susceptibility Deletion/duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CFB, CFI, C3, THBD, DGKE
Specificity
20 %
Genes
100 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Exome PLUS Proteinuria/FSGS & Hematuria.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

WT1, ALMS1, LMX1B, PAX2, GLA, TSC2, TSC1, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, MYH9, CFB, CFI , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
CFI. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CFI
Specificity
100 %
Genes
100 %
CFI. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CFI
Specificity
100 %
Genes
100 %
Hemolytic uremic syndrome 2, atypical (AHUS2, deletion/duplication analysis of CD46 and CFI gene).

By CGC Genetics in Portugal.

CFI, CD46
Specificity
50 %
Genes
100 %
Atypical hemolytic uremic syndrome (NGS panel for 14 genes).

By CGC Genetics in Portugal.

MMACHC, LMNA, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4
Specificity
8 %
Genes
100 %
Atypical hemolytic-uremic syndrome (sequence analysis of CFI gene).

By CGC Genetics in Portugal.

CFI
Specificity
100 %
Genes
100 %
CFI Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

CFI
Specificity
100 %
Genes
100 %
Atypical hemolytic-uremic syndrome 3.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFI
Specificity
100 %
Genes
100 %
AHUS/MPGN panel.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, ADAMTS13, CFHR4, CLU, CFHR2
Specificity
8 %
Genes
100 %
Atypical Hemolytic-Uremic Syndrome Panel.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, ADAMTS13, CFHR4, CLU, CFHR2
Specificity
8 %
Genes
100 %
Complement factor I deficiency.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFI
Specificity
100 %
Genes
100 %
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
100 %
Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
100 %
Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
100 %
Atypical hemolytic uremic syndrome.

By Northern Molecular Genetics Service Newcastle Upon Tyne Hospitals NHS Foundation Trust in United Kingdom.

MMACHC, INF2, CFB, CFI, CFH, CD46, C3, THBD, DGKE, ADAMTS13, C5
Specificity
10 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Atypical hemplytic-uremic syndrome.

By Institute of Human Genetics Cologne University in Germany.

MMACHC, CFI, CFH, CD46, C3, DGKE
Specificity
17 %
Genes
100 %
CFI-Related Atypical Hemolytic-Uremic Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

CFI
Specificity
100 %
Genes
100 %
CFI.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CFI
Specificity
100 %
Genes
100 %
Atypical hemolytic uremic syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, CFHR2
Specificity
8 %
Genes
100 %
Hemolytic uremic syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CFI
Specificity
100 %
Genes
100 %
Hemolytic Uremic Syndrome Panel.

By CeGaT GmbH in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4
Specificity
9 %
Genes
100 %
Complement deficiencies Panel.

By CeGaT GmbH in Germany.

PIGA, CFB, CFI, CFH, CD46, C3, THBD, C1S, C1R, CFHR1, CFHR3, DGKE, MASP1, C7, FCN3, CFD, C2, SERPING1, C1QC, C1QA , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Test for CFI-Related Atypical Hemolytic-Uremic Syndrome.

By Secugen SL in Spain.

CFI
Specificity
100 %
Genes
100 %
aHUS/DDD Genetic Evaluation.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

LMNA, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, C4BPA, C4BPB
Specificity
7 %
Genes
100 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Hemolytic-uremic, syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, CFHR4, CFHR2
Specificity
10 %
Genes
100 %
Macular Degeneration NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, TLR4, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, EFEMP1, HTRA1, RAX2, HMCN1, ERCC6, CFB, CFI, CFH, C3, C2, CST3, CX3CR1
Specificity
5 %
Genes
100 %
CFI.

By Fulgent Genetics Fulgent Genetics in United States.

CFI
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Complement System Disorder Panel.

By Blueprint Genetics in Finland.

CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Hemolytic Uremic Syndrome Panel.

By Blueprint Genetics in Finland.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, DGKE, ADAMTS13
Specificity
12 %
Genes
100 %
Complement factor I deficiency.

By Bioarray in Spain.

CFI
Specificity
100 %
Genes
100 %
Afibrinogenemia.

By Bioarray in Spain.

CFI
Specificity
100 %
Genes
100 %
aHUS/TMA/C3 Glomerulopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, CFHR2
Specificity
8 %
Genes
100 %
ATYPICAL HEMOLYTIC UREMIC SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CFB, CFI, CFH, CD46, THBD, DGKE
Specificity
17 %
Genes
100 %
ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, C1S, CFHR1, CFHR3, DGKE, C2, C9, C8A
Specificity
7 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome, Sequencing CFI Gene.

By Reference Laboratory Genetics in Spain.

CFI
Specificity
100 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome , Deletions-Duplications (MLPA) CFI Gene.

By Reference Laboratory Genetics in Spain.

CFI
Specificity
100 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, CFHR4
Specificity
10 %
Genes
100 %
Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes.

By Reference Laboratory Genetics in Spain.

FBLN5, ABCA4, HTRA1, RAX2, HMCN1, ERCC6, CFB, CFI, CFH, C3, C2, CST3, ARMS2, C9, CX3CR1
Specificity
7 %
Genes
100 %
Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFP
Specificity
9 %
Genes
100 %

Alternate names

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3; Ahus3 Is also known as ahus, susceptibility to, 3;atypical hus with i factor anomaly; d-hus with i factor anomaly; hemolytic-uremic syndrome without diarrhea with i factor anomaly; ahus with i factor anomaly.



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