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Summary
DIABETES MELLITUS, INSULIN-DEPENDENT
INSULIN-DEPENDENT DIABETES MELLITUS (IDDM) DIABETES MELLITUS, INSULIN DEPENDENT TYPE
222100
OMIM = Online Medalian Inheritance of Men
6p21.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • diet
  • exercise
  • insulin
  • sodium bicarbonate
  • volume replacement
rare (1:600) polygenic
autosomal recessive susceptibility
heterogenous
symptoms
acetone-like odor
coma
dehydration
glucosuria
ketosis, ketoacidosis
metabolic acidosis
onset, childhood
onset, infancy
polydipsia (increased drinking)
polyuria
unusual odor / odour
weight loss
laboratory finding
D-Glucose5.5010.003.305.50mmol/lserum
Sodium150.00180.00135.00145.00mmol/lserum
Ketone bodies ++/+++urine
Insulin 3.0023.00lowplasma
pH6.907.357.357.45no unitblood
Bicarbonate15.0024.0024.0027.00mmol/lblood
pCO220.0030.0038.0042.00mm Hgblood
C-peptide decreasedserum/plasma
reducing substances, urine (Clinitest)0.000.00 +urineno data
D-Glucose0.000.00 increasedurineno data
D-Galactonic acid0.000.00 increasedurineno data
Literature
Etzioni Aet al.Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlationAm J Med Genet1102131-1352002
Sturla Let al.Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG IIc)J Biol Chem2782926727-332003
Ward Cet al.A mild form of mucolipidosis type III in four Baluch siblingsClin Genet446313-3191993
Koch Ret al.The international collaborative study of maternal phenylketonuria: status report 1994Acta Paediatr Scan4070111-1191994
Morava Eet al.A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermiaEur J Hum Genet156638-6452007
Wu Xet al.Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorderNat Med105518-5232004
Lenke RRLevy HLMaternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnanciesN Engl J Med30301202-12081980
Ishikawa HOet al.Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIcProc Natl Acad Sci U S A1025118532-72005
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991