Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6; Ahus6

Genes related to Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6; Ahus6

THBD

Clinical Features

Top most frequent phenotypes and symptoms related to Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6; Ahus6

Pica
Anemia
Hypertension
Renal insufficiency
Thrombocytopenia
Proteinuria
Hemolytic anemia
Hematuria
Acute kidney injury
Elevated serum creatinine

And another 4 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

Accelerate your rare disease diagnosis with us

Learn more

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6; Ahus6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for THBD-Related Atypical Hemolytic-Uremic Syndrome. By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. THBD 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 %
THBD Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. THBD Specificity 100 % Genes 100 %
THBD Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. THBD 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 Panel GTR000531736 complete gene list CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, ITGB3, ITGA2B, ETV6, GP1BB, RBM8A, SRC, CFHR4, SLFN14, RUNX1T1, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9 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 Panel GTR000558961 complete gene list RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, ITGB3, ITGA2B, ETV6, GP1BB, RBM8A, SRC, CFHR4, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9 Specificity 3 % Genes 100 %
THBD. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. THBD Specificity 100 % Genes 100 %
Hemolytic uremic syndrome, atypical with thrombomodulin defect (sequence analysis of THBD gene). By CGC Genetics in Portugal. THBD Specificity 100 % 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 %
Hemolytic uremic syndrome type 6 (deletions/duplications analysis of THBD gene). By CGC Genetics in Portugal. THBD Specificity 100 % Genes 100 %
Hemolytic uremic syndrome type 6 (deletions/duplications analysis of THBD gene). By CGC Genetics in Portugal. THBD Specificity 100 % Genes 100 %
Atypical hemolytic-uremic syndrome. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. THBD 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 %
Thrombophilia due to thrombomodulin defect. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. THBD 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 Panel GTR000558419 complete gene list VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CYP11B1, RRM2B, SLC25A13, SDHC, HADHA, FH, CYP11B2, PDSS2, COQ6, SARS2, FAH, HMGCL, CCDC28B, XPNPEP3, G6PC, CYP24A1, SDHB, SLC9A3R1, SUCLA2, IQCB1, HADHB, ALG8, COQ2, PCCB, PCCA, STRA6, OTC, XDH, MMADHC, LMBRD1, PGAM2, CUBN, AGXT, CA2, MMAB, MMAA, MUT, SUCLG1, CBS, PYGM, ETFB, ETFA, ETFDH, GCDH, GALT, FASTKD2, COX6B1, SLC3A1, ASS1, SLC22A5, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ASL, ALMS1, CYP17A1, TMEM127, LMX1B, MEN1, PAX2, TACO1, SDHA, ABCD4, APRT, DHCR7, GLA, HRAS, NPC1, VDR, TSC2, TSC1, NF2, SDHD, FLCN, MET, MAX, SBDS, PRKAR1A, CDC73, RAD51C, COL4A3, CTNS, PEX2, NPHS2, NPHS1, PEX7, SLC7A7, GRHPR, MPL, PEX1, PKHD1, TMEM216, WNK1, AHI1, ATXN10, NF1, CASR, ANOS1, HSD11B2, HNF4A, INF2, UMOD, COL4A4, LAMB2, AVPR2, AQP2, PHEX, SLC12A3, ACTN4, SCNN1A, SCNN1G, SCNN1B, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, FGF23, KCNA1, CACNA1H, SCARB2, TBC1D24, COL4A1, KCNJ10, OFD1, SALL1, ATP6V1B1, CACNA1D, DCDC2, SIX5, PRPS1, SIX1, GATA3, MYH9, PEX6, TMEM231, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX5, KAT6B, WDR35, CLCNKA, MVK, SOX18, PTH1R, AGTR2, MAGT1, TNXB, KCNJ5, POC1B, IFT140, SLC4A4, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PGK1, MEFV, ACE, SALL4, JAK3, CD2AP, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, GNAS, NR3C2, CFHR1, CFHR3, DGKE, ADAMTS13, APOL1, CDKN1B, KLHL3, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, PIK3CA, COX10, IFT122, PCBD1, APOA1, GREM1, B9D2, LCAT, SLC2A2, GLIS3, EIF2AK3, FGA, VPS33B, FREM1, BMP4, IKZF1, TNFRSF13B, COQ8B, SLC4A1, ATP6V0A4, RBM8A, LRBA, ITGA3, NFKB2, SMARCAL1, CD19, CR2, CD81, HOGA1, ICOS, TNFRSF13C, PRKCSH, MS4A1, NOTCH2, TCTN3, IFT74, IFT172, KIAA0556, CEP104, CEP120, KIF14, PDE6D, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, GRIP1, FREM2, WNT4, CCNQ, FRAS1, NEK1, WDR60, LRP4, CFHR4, CRB2, MUC1, REN, LRP2, STX16, GCM2, ENPP1, CLCN5, SLC34A3, DMP1, DICER1, SERAC1, SLC6A19, COA5, APOPT1, WDR73, LAMC1, KANK2, MYO1E, GALNT3, CUL3, WNK4, CLDN16, CLDN19, SLC22A12, LIFR, EIF2AK4, SLC2A9, SEC63, PEX11B, SEC61A1, GANAB, SLC7A9, FXYD2, SLC5A2, UROD, KL, TRPM6, HMBS, SLC26A3, LRIG2, DIS3L2, GUCY2C, NFKB1, IL21, LYZ, HPSE2, TALDO1, CNNM2, EGF, SOX17, AGT, ARHGDIA, MAFB, ROBO2, BICC1, SLC16A12, CHRM3, WDR34, EMP2, PTPRO, ITGA8, FGF20, ANLN, EHHADH, ALAD, KANK1, TBX18, CFHR2, AGTR1, UPK3A, TRAP1, LAMA5, SGPL1, XPO5, KANK4, FAT1, NUP205, NUP93, NUP107, ARHGAP24, SIX2, BMP7, CDC5L, CHD1L, DSTYK, FAN1, FN1, PDE3A, SLC26A1, MOCOS, MAPKBP1, RMND1, IFT52, DYNC2LI1, MAGED2, NRIP1, KCNMB1, SLC22A10, SLC36A2, SLC41A1, TBC1D1, MAGEC1, SLC6A20, KANK3, TMEM260, CLDN10 Specificity 1 % 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. THBD 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 %
Thrombocytopenia Panel. By CeGaT GmbH in Germany. AP3B1, MPL, MYH9, GATA1, THBD, ADAMTS13, GP1BA, ITGB3, ITGA2B, MASTL, GP1BB, RBM8A, GP9 Specificity 8 % 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 Panel GTR000528898 complete gene list PIGA, CFB, CFI, CFH, CD46, C3, THBD, C1S, C1R, CFHR1, CFHR3, DGKE, MASP1, C7, FCN3, CFD, C2, SERPING1, C1QC, C1QA, C1QB, ITGB2, CFP, COLEC11, C4B, C5, CD59, C9, C4A, C6, C8B, C8A, C8G, MASP2 Specificity 3 % Genes 100 %
Combined immunodeficiencies Panel. By CeGaT GmbH in Germany. TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D , (...) View the complete list with 40 more genes Panel GTR000528903 complete gene list TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, ITK, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, PIK3CD, LRBA, CD27, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TTC7A, CR2, PRKDC, CARD11, ACP5, IL21R, MALT1, MBL2, CD3G, CORO1A, CD8A, CD247, LCK, IKBKB, RHOH, TNFRSF4, TRAC, TAP2, TAPBP Specificity 2 % Genes 100 %
THBD-Related Atypical Hemolytic-Uremic Syndrome. By Secugen SL in Spain. THBD 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 Panel GTR000523364 complete gene list F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1, F11, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, F9, F8, CFHR1, CFHR3, DGKE, ADAMTS13, GP1BA, GP6, FGA, FGB, GGCX, TBXA2R, FGG, PLAU, HOXA11, MASTL, GP1BB, ELANE, STXBP2, G6PC3, RBM8A, PROC, VKORC1, F7, CFHR4, ACTN1, GP9, F10, F13A1, SERPINC1, LMAN1, C4BPA, C4BPB, PLA2G4A, HRG, SERPIND1 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 %
THBD. By Fulgent Genetics Fulgent Genetics in United States. THBD Specificity 100 % Genes 100 %
Thrombocytopenia Panel. By Blueprint Genetics in Finland. RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, THBD, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL , (...) View the complete list with 14 more genes Panel GTR000552689 complete gene list RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, THBD, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, ETV6, GP1BB, RBM8A, WIPF1, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, MECOM, ARPC1B Specificity 3 % 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 Panel GTR000552725 complete gene list PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CFTR, BLM, CHD7, KRAS, NRAS, RMRP, TINF2, ATM, MRE11, NBN, GATA2, SBDS, PRF1, G6PD, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, PIGA, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, OFD1, TREX1, VPS13B, TBX1, ACTB, NLRP3, MVK, FOXP3, MAGT1, DKC1, CTSC, UNC119, LYST, TERC, TERT, PARN, DOCK8, CSF2RA, CSF2RB, PSMB8, HELLS, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, CFB, CFI, CFH, CD46, C3, THBD, CTC1, WRAP53, NHP2, NOP10, C1S, NOD2, DGKE, SLC29A3, MASP1, SRP72, USB1, SLC46A1, FERMT3, MYO5A, RAB27A, STIM1, MYD88, IKZF1, CSF3R, TNFRSF13B, AICDA, CD40, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, ACD, CARD9, CD19, CR2, CD81, ICOS, IL10RB, PRKDC, TYK2, CFD, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, DNAJC21, C2, UNC93B1, NLRP12, TMEM173, CARD11, SAMD9, SAMD9L, IL2RA, DNMT3B, RNU4ATAC, USP18, CLPB, RNF168, TRNT1, SERPING1, SPINK5, IL36RN, CARD14, NLRP1, TNFAIP3, NCSTN, PSENEN, IL1RN, DDX58, IL10, RNF31, C1QC, ACP5, C1QA, RBCK1, C1QB, PLCG2, BLNK, CD79A, IGLL1, CD79B, NCF1, ITGB2, PEPD, CFP, TMC6, TMC8, COLEC11, CEBPE, COPA, NFKB1, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, TCF3, CD3G, CORO1A, CD70, WDR1, SMARCD2, EXTL3, STAT2, MTHFD1, CD8A, CD247, IRF8, BCL10, ADAM17, CD59, ZBTB24, ERCC6L2, CTPS1, LCK, IKBKB, RPSA, SP110, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, MAP3K14, DOCK2, DCLRE1B, RORC, CD55, IFNAR2, NSMCE3, CDCA7, GINS1, MSN, MRTFA, LAT, BACH2, ARPC1B, JAK1, HYOU1, POLE2, TFRC, ZNF341, CARMIL2, RASGRP1, IRF2BP2, OTULIN, BCL11B Specificity 1 % Genes 100 %
Bleeding Disorder/Coagulopathy Panel. By Blueprint Genetics in Finland. F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...) View the complete list with 42 more genes Panel GTR000552647 complete gene list F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11, VWF, THBD, F9, F8, ADAMTS13, ABCG5, ABCG8, GP1BA, FGA, FGB, GGCX, TBXA2R, FGG, P2RY12, NBEAL2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, ETV6, GP1BB, RBM8A, PROS1, PROC, VKORC1, F7, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, F10, F12, F13A1, SERPINC1, MECOM, MCFD2, LMAN1 Specificity 2 % 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 Panel GTR000552657 complete gene list CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, ADIPOR1, CFB, CFI, CFH, CD46, C3, THBD, MAT2A, C1S, DGKE, MASP1, C7, CR2, FCN3, CFD, C2, SERPING1, C1QC, C1QA, C1QB, CFP, COLEC11, HYDIN, CLU, C5, C4BPA, CD59, C9, C6, C8B, C8A, C8G, MASP2, C4BPB, ADIPOQ, CD55, CD93, FCN2, FCN1, CRP, C3AR1, C1QBP, C5AR2, C5AR1, VSIG4, VTN, ADIPOR2, PTX3 Specificity 2 % Genes 100 %
Comprehensive Hematology Panel. By Blueprint Genetics in Finland. BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...) View the complete list with 219 more genes Panel GTR000552666 complete gene list BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2, MTR, TYR, SLC37A4, GPR143, CLCN7, DTNBP1, ALAS2, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, GPI, RPL35A, CYCS, HAX1, AP3B1, PUS1, PDHA1, ABCB7, TCN2, AK2, NT5C3A, CUBN, CYB5R3, SLC25A38, ANKRD26, PDHX, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RPS19, SOS1, TINF2, RIT1, MAP2K2, CBL, ATM, NBN, PALB2, CDKN2A, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, RAD51C, HBA1, G6PD, HBA2, MPL, RTEL1, WAS, NF1, FLNA, ATRX, VPS13B, ACTB, SLC19A2, MYH9, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, MAGT1, FANCB, DKC1, ATR, CTSC, BLOC1S6, LYST, TERC, TERT, PARN, CSF2RA, ABCA3, SFTPC, SFTPB, SH2D1A, F11, VWF, THBD, CTC1, WRAP53, NHP2, NOP10, F9, F8, ADAMTS13, FANCA, FANCG, FANCF, FANCE, ABCG5, ABCG8, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, USB1, SLC46A1, GP1BA, FGA, FGB, GGCX, MYO5A, RAB27A, TBXA2R, FGG, P2RY12, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, JAK2, IKZF1, ETV6, CSF3R, IFNGR2, SLC4A1, GP1BB, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, STXBP2, ITK, RPL15, G6PC3, VPS45, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, PROS1, FADD, WIPF1, PROC, JAGN1, VKORC1, F7, ACD, EPOR, PGM3, EPAS1, DNAJC21, SAMD9, SAMD9L, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, REN, DDX41, EGLN1, CLPB, RNF168, TRNT1, F10, F12, TF, F13A1, DHFR, SERPINC1, F13B, TMPRSS6, MECOM, RPS29, MCFD2, LMAN1, WDR1, SMARCD2, AP3D1, MTHFD1, ERCC6L2, DCLRE1B, GINS1, MRTFA, ARPC1B Specificity 1 % Genes 100 %
Hemolytic Uremic Syndrome Panel. By Blueprint Genetics in Finland. CFB, CFI, CFH, CFHR5, CD46, C3, THBD, DGKE, ADAMTS13 Specificity 12 % Genes 100 %
Anemia Panel. By Blueprint Genetics in Finland. BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...) View the complete list with 58 more genes Panel GTR000552629 complete gene list BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX, FANCC, BLM, RPS19, ATM, NBN, PALB2, BRIP1, SBDS, RAD51C, HBA1, G6PD, HBA2, ATRX, SLC19A2, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, FANCB, ATR, THBD, ADAMTS13, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, RPS7, SLC4A1, RPL15, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, DNAJC21, REN, TF, DHFR, TMPRSS6, RPS29 Specificity 2 % Genes 100 %
hrombophilia due to thrombomodulin defect. By Bioarray in Spain. THBD 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 THBD Gene. By Reference Laboratory Genetics in Spain. THBD Specificity 100 % Genes 100 %
Thrombophilia due to Thrombomodulin Defect , Sequencing THBD Gene. By Reference Laboratory Genetics in Spain. THBD 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 %
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, 6; Ahus6 Is also known as ahus, susceptibility to, 6;atypical hus with thrombomodulin anomaly; d-hus with thrombomodulin anomaly; hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly; ahus with thrombomodulin anomaly.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20 PROTEUS-LIKE SYNDROME MARTSOLF SYNDROME AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38