Combined Immunodeficiency-enteropathy Spectrum

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Combined Immunodeficiency-enteropathy Spectrum

TTC7A

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Immunodeficiency-enteropathy Spectrum

Intrauterine growth retardation
Ventricular septal defect
Immunodeficiency
Polyhydramnios
Sparse hair
Autoimmunity
Nail dystrophy
Abdominal distention
Intestinal malrotation
Hepatitis

And another 20 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Combined Immunodeficiency-enteropathy Spectrum Is also known as cid-mia/early-onset ibd.

Researches and researchers

Doctors, researchs, and experts related to Combined Immunodeficiency-enteropathy Spectrum extracted from public data.

Combined Immunodeficiency-enteropathy Spectrum Experts map

Current Researchs and researchers

FREIBURG — Pr Klaus WARNATZ
Clinical expert - Investigator of research project
- Institution/s:
  — Universitätsklinikum Freiburg
  — CCI am Universitätsklinikum Freiburg
- Research area/topic::
  Discovery and Evaluation of new Combined Immunodeficiency Disease Entities (DECIDE)

Combined Immunodeficiency-enteropathy Spectrum Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TTC7A Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). TTC7A Specificity 100 % Genes 100 %
TTC7A Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). TTC7A Specificity 100 % Genes 100 %
Autosomal recessive early-onset inflammatory bowel disease (sequence analysis of TTC7A gene). By CGC Genetics (Portugal). TTC7A Specificity 100 % Genes 100 %
Intestinal atresia, multiple. By Centogene AG - the Rare Disease Company (Germany). TTC7A Specificity 100 % Genes 100 %
Combined immunodeficiencies Panel. By CeGaT GmbH (Germany). RMRP, SEMA3E, STAT5B, STIM1, STK4, TAPBP, TBX1, THBD, TNFRSF4, CD40, CD27, CD40LG, TRAC, ACP5, FOXN1, ZAP70, CARD11, CD3D, CD3E, CD3G , (...) View the complete list with 39 more genes Panel complete gene list RMRP, SEMA3E, STAT5B, STIM1, STK4, TAPBP, TBX1, THBD, TNFRSF4, CD40, CD27, CD40LG, TRAC, ACP5, FOXN1, ZAP70, CARD11, CD3D, CD3E, CD3G, CD247, CD8A, LRBA, DCLRE1C, ADA, DOCK8, TTC7A, CHD7, CORO1A, CR2, NHEJ1, ORAI1, MAGT1, AK2, TAP1, TAP2, IKBKB, IL12RB1, IL21R, IL2RG, IL7R, ITK, JAK3, LCK, LIG4, MALT1, RHOH, MBL2, CIITA, PNP, PIK3CD, POLE, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP Specificity 2 % Genes 100 %
Invitae Monogenic Inflammatory Bowel Disease Panel. By Invitae (United States). SH2D1A, BTK, STAT1, STAT3, STIM1, STXBP2, CD40LG, WAS, ZAP70, AICDA, RTEL1, NLRC4, CD3G, LRBA, DCLRE1C, ADA, DOCK8, ADAM17, TTC7A, G6PC3 , (...) View the complete list with 26 more genes Panel complete gene list SH2D1A, BTK, STAT1, STAT3, STIM1, STXBP2, CD40LG, WAS, ZAP70, AICDA, RTEL1, NLRC4, CD3G, LRBA, DCLRE1C, ADA, DOCK8, ADAM17, TTC7A, G6PC3, CTLA4, CYBA, CYBB, DKC1, SLC37A4, ICOS, XIAP, IL10, IL10RA, IL10RB, IL21, IL2RA, IL2RG, FOXP3, ITGB2, LIG4, MEFV, MVK, NCF2, NCF4, NFAT5, PIK3CD, PIK3R1, PLCG2, RAG1, RAG2 Specificity 3 % Genes 100 %
Invitae Primary Immunodeficiency Panel. By Invitae (United States). RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...) View the complete list with 187 more genes Panel complete gene list RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2, TERC, TERT, TINF2, TLR3, TNFRSF1A, TNFRSF4, FAS, CD27, TNFSF12, CD40LG, FASLG, TPP2, TRAF3, TREX1, ACP5, TYK2, UNG, WAS, WIPF1, FOXN1, ZAP70, ACTB, AICDA, TRAF3IP2, UNC93B1, ITCH, BLNK, NHP2, NOP10, LPIN2, VPS45, CASP10, CASP8, SPINK5, IL36RN, RBCK1, RTEL1, SAMHD1, CARD9, CARD11, NLRP3, IL17F, NLRC4, CARD14, CD3D, CD3E, CD3G, CD247, HAX1, CD79A, CD79B, CD8A, TRNT1, LRBA, DCLRE1B, DCLRE1C, TNFRSF13C, IRAK4, TMC6, TNFRSF13B, TICAM1, IL17RC, CEBPE, ADA2, RNASEH2A, ADA, IFIH1, DOCK8, ADAM17, LYST, TTC7A, SLC35C1, TMC8, CHD7, ZBTB24, VPS13B, COPA, ADAR, CORO1A, NLRP12, SLC29A3, UNC13D, FERMT3, CR2, RNASEH2C, CSF2RA, CSF3R, G6PC3, MOGS, CTLA4, ACD, CTPS1, CTSC, CXCR4, RNASEH2B, NHEJ1, CYBA, CYBB, ORAI1, CTC1, JAGN1, TMEM173, MAGT1, DKC1, EPG5, DNMT3B, LAMTOR2, DOCK2, CLPB, ELANE, FADD, AIRE, AK2, FPR1, ISG15, SLC37A4, GATA2, GFI1, TAP1, TAP2, NOD2, ICOS, IRF8, SP110, IFNGR1, IFNGR2, AP3B1, IGLL1, XIAP, IKBKB, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL7R, FOXP3, IRF7, ITGB2, ITK, JAK3, LCK, LIG4, MALT1, MAP3K14, RHOH, MEFV, CIITA, MVK, MYD88, NBN, NCF2, NCF4, NFAT5, NFKB2, NFKBIA, PNP, ATM, BLOC1S6, PARN, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, B2M, POLE, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, BCL10, RFX5, RFXANK, RFXAP Specificity 1 % Genes 100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel. By Invitae (United States). RMRP, SEMA3E, SMARCAL1, STAT3, STAT5B, STIM1, TBX1, TCN2, TERC, TERT, TINF2, WAS, WIPF1, FOXN1, NHP2, NOP10, SPINK5, RTEL1, DCLRE1B, TTC7A , (...) View the complete list with 17 more genes Panel complete gene list RMRP, SEMA3E, SMARCAL1, STAT3, STAT5B, STIM1, TBX1, TCN2, TERC, TERT, TINF2, WAS, WIPF1, FOXN1, NHP2, NOP10, SPINK5, RTEL1, DCLRE1B, TTC7A, CHD7, ZBTB24, ACD, ORAI1, CTC1, DKC1, EPG5, DNMT3B, SP110, NBN, NFKBIA, PNP, ATM, PARN, PGM3, PMS2, POLE Specificity 3 % Genes 100 %