Gastrointestinal Defects And Immunodeficiency Syndrome; Gidid

Description

Gastrointestinal defects and immunodeficiency syndrome (GIDID) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014).

Clinical Features

Top most frequent phenotypes and symptoms related to Gastrointestinal Defects And Immunodeficiency Syndrome; Gidid

  • Pica
  • Growth delay
  • Ptosis
  • Anemia
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Abnormality of the skeletal system
  • Diarrhea
  • Immunodeficiency
  • Polyhydramnios
And another 34 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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Gastrointestinal Defects And Immunodeficiency Syndrome; Gidid 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 in 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 in United States.

TTC7A
Specificity
100 %
Genes
100 %
Autosomal recessive early-onset inflammatory bowel disease (sequence analysis of TTC7A gene).

By CGC Genetics in Portugal.

TTC7A
Specificity
100 %
Genes
100 %
Intestinal atresia, multiple.

By Centogene AG - the Rare Disease Company in Germany.

TTC7A
Specificity
100 %
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
Specificity
2 %
Genes
100 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
TTC7A.

By Fulgent Genetics Fulgent Genetics in United States.

TTC7A
Specificity
100 %
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 %
Congenital Diarrhea Panel.

By Blueprint Genetics in Finland.

EPCAM, CYP27A1, LIPA, MVK, NCF2, NEUROG3, XIAP, IL10RA, SI, TTC37, TTC7A, SKIV2L, IL10RB, IL10, SAR1B, LCT, SLC5A1, SLC26A3, MYO5B, STX3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Gastrointestinal Atresia Panel.

By Blueprint Genetics in Finland.

SOX2, FANCC, CHD7, DHCR7, MID1, FANCB, GLI3, EFTUD2, MYCN, RFX6, PTF1A, TTC7A, CLMP
Specificity
8 %
Genes
100 %
Gastrointestinal Defects and Immunodeficiency Syndrome , Sequencing TTC7A.

By Reference Laboratory Genetics in Spain.

TTC7A
Specificity
100 %
Genes
100 %

Alternate names

Gastrointestinal Defects And Immunodeficiency Syndrome; Gidid Is also known as intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency, intestinal atresia, multiple;minat, familial intestinal polyatresia syndrome;fipa;familial intestinal polyatresia syndrome.



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