Disease #04057 (MTCHRS (Mitchell-Riley syndrome (MTCHRS)), OMIM:615710)

Official abbreviation MTCHRS
Name Mitchell-Riley syndrome (MTCHRS)
OMIM ID 615710
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 12
Phenotype entries for this disease 12
Associated with 1 gene RFX6
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00054777 sister1 PubMed: Skopkova 2016 family, 2 affected sisters F no Slovakia (Slovak Republic) white >08y - - - MTCHRS - RFX6 RFX6 2 2 Martina Skopkova
00054834 sister 2 PubMed: Skopkova 2016 - F no Slovakia (Slovak Republic) white >13y - - - MTCHRS - RFX6 RFX6 2 1 Martina Skopkova
00054856 - PubMed: Smith 2010, Journal: Smith 2010, PubMed: Mitchell 2004 4-generation family, 2 affected sibs (F, M), unaffected heterozugous carrier parents (2nd cousins) F yes Pakistan - 00y06m15d - - - MTCHRS see paper; born 34w induced delivery (poor fetal growth,<3rd percentile), prenatal ultrasound duodenal atresia (1d-confirmed by surgery and jejunal atresia, annular pancreas, gall bladder agenesis; 2d-neonatal diabetes (39h), hyperglycemia, low insulin/C-peptide levels; liver failure, liver biopsy revealed cholestasis consistent with TPN and/or extrahepatic biliary obstruction; 194d died multi-organ failure; ... RFX6 RFX6 1 2 Johan den Dunnen
00054857 - PubMed: Smith 2010, Journal: Smith 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st-degree cousins) F yes Pakistan - >04y06m - - - MTCHRS born 35w, small (2nd percentile); 1d-duodenal atresia surgically corrected, gall bladder agenesis noted during surgery; 8d-insulin treatment after persistent hyperglycemia with low C-peptide levels, normal feeding but failed to thrive, developed hyperbilirubinemia; liver biopsy cholestatic disease, no biliary atresia on cholangiography but portal areas oedematous/narrowed by bile plugs; 11m-hyperbilirubinemia gradually resolved without signs liver disease; 4y6m-alive, insulin dependent RFX6 RFX6 1 1 Johan den Dunnen
00054858 - PubMed: Smith 2010, Journal: Smith 2010 chld from in vitro fertilisation (donated egg) F no - - >09y - - - MTCHRS in vitro fertilization donated egg; born 39w, small; prenatal ultrasoun suspected duodenal atresia; 2d-laparoscopy revealing malrotation,duodenal web necessitating lysis of bands, during hospitalization developed hyperglycemia, received insulin briefly; 1.5m-readmitted hyperbilirubinemia, failure to thrive, hyperglycemia requiring insulin, low C-peptide levels; liver biopsy consistent with cholestatic disease, normal intra/extra-hepatic ducts; 9y-alive, insulin dependent (small dose) RFX6 RFX6 2 1 Johan den Dunnen
00054859 - PubMed: Smith 2010, Journal: Smith 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - 00y02m15d - - - MTCHRS born 35w, small (<10th percentile); prenatal ultrasound poor fetal growth, duodenal atresia; 9d-duodenal atresia surgery; 2d-neonatal diabetes, hyperglycemia undetectable insulin/C-peptide levels; refractory ascites, sepsis, gastrointestinal hemorrhage causing death 2.5m; mother gestational diabetes, fatehr diabetes diagnosed as type 1 RFX6 RFX6 1 1 Johan den Dunnen
00054860 - PubMed: Smith 2010, Journal: Smith 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Belgium Morrocan 00y03m - - - MTCHRS intestinal atresia, intestinal malrotation, intrauterine growth restriction, gall bladder agenesis, hemochromatosis; 3d-insulin treatment, low C-peptide levels were low; 3m-died RFX6 RFX6 1 1 Johan den Dunnen
00106138 patient 1 PubMed: Spiegel 2011 - M ? Israel Arab >01y09m - - - MTCHRS insulin dependent diabetes mellitus, duodenal and jejunal atresia, intestinal malrotation, gall bladder agenesis, cholestasis, annulat pancreas, malabsorption unresponsive to pancreatic supplements, intractable diarrhea, neonatal anemia RFX6 RFX6 1 1 Martina Skopkova
00106140 - PubMed: Conception 2014 - M no Viet Nam - 00y05m - - - MTCHRS duodenal atresia, intestinal malrotation, jejunal perforation, diarrhea unresponsive to pancreatic supplements, gall bladder agenesis, cholestasis, anular pancreas, fluctuating glycemia - RFX6 1 1 Martina Skopkova
00106163 - PubMed: Chandra 2014 - F - India - >06y - - - MTCHRS diabetes mellitus, duodenal stenosis, jejunal atresia, neonatal chronic diarrhea, pancreas hypoplasia, gall bladder agenesis, chronic anemia RFX6 RFX6 1 1 Martina Skopkova
00106164 - PubMed: Sansbury 2015 1 family, 2 patients - double first cousins, a female and a male - yes Turkey - >09y - - - MTCHRS diabetes mellitus, duodenal atresia, jejunal web, Meckel's diverticulum, GI bleeding, heterotopy of gastric mucosa within the small bowel, gall bladder agenesis, anemia RFX6 RFX6 2 2 Martina Skopkova
00106165 - PubMed: Zegre Amorim 2015 - F yes Portugal gypsy >00y07m - - - MTCHRS diabetes mellitus, duodenal atresia, intestinal malrotation, ectopic pancreatic tissue in jejunum, unresponsive diarrhea, gall bladder agenesis, anular pancreas, anemia, anteriorly placed anus RFX6 RFX6 1 1 Martina Skopkova
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