RGDs registry under the 'Gastrointestinal disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | Celiac disease | 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 |
PubMed | Reports | |
| 2 | Hirschsprung disease |
•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 |
PubMed | Reports |
| 3 | Protein-losing enteropathy |
•Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy [CHAPLE] •CHAPLE syndrome |
Intestinal disorders |
CD55 CD55 molecule (Cromer blood group) |
PubMed | Reports |
| 4 | Achalasia cardia | Esophageal disorders |
NOS1 nitric oxide synthase 1 VIP vasoactive intestinal peptide AAAS aladin WD repeat nucleoporin CRLF1 cytokine receptor like factor 1 |
PubMed | Reports | |
| 5 | Ulcerative colitis | Inflammatory bowel diseases |
NOD2 nucleotide binding oligomerization domain containing 2 |
PubMed | Reports | |
| 6 | Congenital secretory diarrhea, chloride type |
•Congenital chloride diarrhea •Familial Chloride Diarrhea |
Diarrheal diseases |
SLC26A3 solute carrier family 26 member 3 |
PubMed | Reports |
| 7 | Multiple gastrointestinal atresias |
•Multiple intestinal atresia •Familial intestinal polyatresia syndrome |
TTC7A tetratricopeptide repeat domain 7A |
PubMed | Reports | |
| 8 | Primary intestinal lymphangiectasia |
•Waldmann disease •Primary intestinal lymphangiectasis •Familial Waldmann's disease |
Intestinal disorders |
FOXC2 forkhead box C2 PROX1 prospero homeobox 1 |
PubMed | Reports |
| 9 | Hereditary pancreatitis |
•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 |
PubMed | Reports |
| 10 | 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 |
PubMed | Reports | |
| 11 | Peutz-Jeghers syndrome |
•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 |
PubMed | Reports |
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