GenTIGS

RGDs registry under the 'Gastrointestinal disorders'

Disorder Name (Total=14)	Aliases	Sub-Category	Gene	Indian Reports	Link
Celiac disease Autosomal recessive		Disorder of abdomen	CTLA4 cytotoxic T-lymphocyte associated protein 4 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1	Reports Updated as of Mar 09, 2023	PubMed
Hirschsprung disease Autosomal dominant, Autosomal recessive	•Aganglionic megacolon •Colonic aganglionosis •Congenital intestinal aganglionosis •HSCR	Intestinal disorders	PHOX2B paired like homeobox 2B ECE1 endothelin converting enzyme 1 RET ret proto-oncogene EDNRB endothelin receptor type B EDN3 endothelin 3 SOX10 SRY-box transcription factor 10 FBN1 fibrillin 1 IHH Indian hedgehog signaling molecule TBATA thymus, brain and testes associated NCLN nicalin NUP98 nucleoporin 98 and 96 precursor DENND3 DENN domain containing 3 GDNF glial cell derived neurotrophic factor	Reports Updated as of Mar 09, 2023	PubMed
Protein-losing enteropathy Autosomal recessive	•Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy [CHAPLE] •CHAPLE syndrome	Intestinal disorders	CD55 CD55 molecule (Cromer blood group)	Reports Updated as of Mar 09, 2023	PubMed
Achalasia cardia Autosomal recessive		Esophageal disorders	NOS1 nitric oxide synthase 1 VIP vasoactive intestinal peptide AAAS aladin WD repeat nucleoporin CRLF1 cytokine receptor like factor 1	Reports Updated as of Mar 09, 2023	PubMed
Ulcerative colitis		Inflammatory bowel diseases	NOD2 nucleotide binding oligomerization domain containing 2	Reports Updated as of Sep 05, 2023	PubMed
Congenital secretory diarrhea, chloride type Autosomal recessive	•Chloride diarrhea, congenital, finnish type •Chloridorrhea, congenital •Congenital chloride diarrhea •Congenital chloride diarrhea finnish type •Congenital chloride diarrhoea finnish type •Congenital chloridorrhea •Congenital secretory chloride diarrhea 1 •Congenital secretory chloride diarrhea type 1 •Congenital secretory chloride diarrhoea type 1 •Defective cl^-^/hco^-^>3< exchange in ileum and/or colon •Diarrhea 1, secretory chloride, congenital •Familial chloride diarrhea •Secretory diarrhea caused by mutation in SLC26A3 •Secretory diarrhoea caused by mutation in SLC26A3 •SLC26A3 secretory diarrhea •SLC26A3 secretory diarrhoea •DIAR1	Diarrheal diseases	SLC26A3 solute carrier family 26 member 3	Reports Updated as of Dec 07, 2023	PubMed
Multiple gastrointestinal atresias Autosomal recessive	•Multiple intestinal atresia •Familial intestinal polyatresia syndrome		TTC7A tetratricopeptide repeat domain 7A	Reports Updated as of Feb 01, 2024	PubMed
Primary intestinal lymphangiectasia	•Waldmann disease •Primary intestinal lymphangiectasis •Familial Waldmann's disease	Intestinal disorders	FOXC2 forkhead box C2 PROX1 prospero homeobox 1	Reports Updated as of Jul 20, 2024	PubMed
Hereditary pancreatitis Autosomal dominant	•Hereditary chronic pancreatitis	Disorder of pancreas	PRSS1 serine protease 1 SPINK1 serine peptidase inhibitor Kazal type 1 CFTR CF transmembrane conductance regulator CTRC chymotrypsin C CPA1 carboxypeptidase A1	Reports Updated as of Jul 20, 2024	PubMed
Autoimmune pancreatitis		Disorder of pancreas	IL33 interleukin 33 IFNA1 interferon alpha 1 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 SPINK1 serine peptidase inhibitor Kazal type 1 CA2 carbonic anhydrase 2 PRSS1 serine protease 1 CELA1 chymotrypsin like elastase 1 CELA3B chymotrypsin like elastase 3B PRSS58 serine protease 58	Reports Updated as of Jul 20, 2024	PubMed
Peutz-Jeghers syndrome Autosomal dominant	•Hamartomatous intestinal polyposis •Periorificial lentiginosis syndrome •Lentiginosis, perioral •Peutz-Jeghers polyposis •Polyposis, hamartomatous intestinal •Polyps-and-spots syndrome	Intestinal polyposis syndrome	STK11 serine/threonine kinase 11	Reports Updated as of Jul 20, 2024	PubMed
Congenital diarrhea 5 with tufting enteropathy Autosomal recessive	•Secretory diarrhea caused by mutation in EPCAM •Congenital familial intractable diarrhea with epithelial or epithelium abnormalities •Congenital familial intractable diarrhoea with epithelial or epithelium abnormalities •Congenital tufting enteropathy •EPCAM secretory diarrhea •EPCAM secretory diarrhoea •Intestinal epithelial dysplasia •Intestinal epithelial cell dysplasia •Non-syndromic congenital tufting enteropathy •Secretory diarrhoea caused by mutation in EPCAM •Tufting enteropathy •Congenital tufting enteropathy •DIAR5 •IED	Diarrheal diseases	EPCAM epithelial cell adhesion molecule	Reports Updated as of Feb 10, 2026	PubMed
Congenital microvillous atrophy Autosomal recessive	•Davidson disease •Diarrhea 2 with microvillus atrophy, with or without cholestasis •Congenital familial protracted diarrhea with enterocyte brush-border abnormalities •Congenital familial protracted diarrhoea with enterocyte brush-border abnormalities •Congenital microvillus atrophy •Diarrhea 2 with microvillus atrophy •Diarrhea with microvillus atrophy 2 •Diarrhoea 2 with microvillus atrophy •Microvillous inclusion disease •Microvillus atrophy, congenital •Microvillus inclusion disease •myo5b secretory diarrhea •myo5b secretory diarrhoea •Secretory diarrhea caused by mutation in myo5b •Secretory diarrhoea caused by mutation in myo5b •MVD •MVID •DIAR2	Diarrheal diseases	MYO5B myosin VB	Reports Updated as of Aug 17, 2026	PubMed
Congenital sodium diarrhea Autosomal recessive	•Defective Na^+^/H^+^ exchange in jejunum AND/OR ileum •Na-H exchange deficiency •Congenital secretory diarrhea, sodium type •Non-syndromic congenital sodium diarrhea	Diarrheal diseases	SPINT2 serine peptidase inhibitor, Kunitz type 2	Reports Updated as of Aug 17, 2026	PubMed