MITCHELL-RILEY SYNDROME (MTCHRS)

Question 1

What is  MITCHELL-RILEY SYNDROME (MTCHRS)?

Accepted Answer

very rare

autosomal recessive

mutation in the RFX6 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615710

Question 3

Which enzymes are involved?

Accepted Answer

DNA-binding protein RFX6

Disease	MITCHELL-RILEY SYNDROME (MTCHRS)
Synonym	DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA ; RFX6
OMIM	615710 OMIM = Online Mendelian Inheritance of Men
Orphanet	293864
Protein (UniProt)	DNA-binding protein RFX6
Gene locus	6q22.1
ICD
Summary	very rare autosomal recessive mutation in the RFX6 gene
Laboratory findings	Bilirubin inc (serum) D-Glucose inc (serum) Insulin dec (serum)
Symptoms	cholestasis diabetes mellitus diarrhea gallbladder abnormalities hyperglycemia intestinal atresia intestinal malabsorption intrauterine growth retardation onset, infancy onset, neonatal pancreatic dysfunction, endocrine