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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5 (MODY5, RCAD)
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
multicystic dysplastic kidneys
onset, adolescent
onset, childhood
onset, fetus
onset, infancy
onset, neonatal
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
Popek M,et al.Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuriaClin Chim Acta411232087-20912010
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