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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5 (RCAD, MODY5)
MODY 5 RENAL CYSTS AND DIABETES SYNDROME RCAD
137920
OMIM = Online Medalian Inheritance of Men
93111
17q12
rare
autosomal dominant
mutation in the hepatocyte nuclear factor-1-beta gene
symptoms
diabetes mellitus
glucosuria
gout
hypospadia
liver involvement or dysfunction
onset, infancy
onset, variable age
pancreatic dysfunction, exocrine
proteinuria
renal cysts
renal dysfunction, renal defects
renal failure, acute/chronic
laboratory finding
Creatinine increasedserum
Uric acid increasedserum
Literature
Collinet E,et al.Four cases of aldosterone synthase deficiency in childhoodArch Pediatr19111191-11952012
Voelker Cet al.Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)Glycobiology128473-4832002
Collinet E,et al.Four cases of aldosterone synthase deficiency in childhoodArch Pediatr19111191-11952012
Gucev Z,et al.Aldosterone synthase deficiency type II with hypospadiasIndian Pediatr494318-3202012