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Summary
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG FRTS4
FRTS4 WITH MODY
616026
OMIM = Online Medalian Inheritance of Men
93111
20q13.12
rare
autosomal dominant
symptoms
aminoaciduria, generalized
birthweight high (large for gestational age)
diabetes mellitus
glucosuria
hepatomegaly (large liver)
hyperinsulinism
hypoglycemia
macrosomia
metabolic acidosis
nephrocalcinosis
onset, childhood
onset, neonatal
renal dysfunction, renal defects
rickets
short stature
laboratory finding
Literature
Jessen CL,et al.Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II.Acta Paediatr10111519-5252012
Jessen CL,et al.Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II.Acta Paediatr10111519-5252012