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Summary
WOLCOTT-RALLISON SYNDROME
WRS
226980
OMIM = Online Medalian Inheritance of Men
1667
2p11.2
rare (60 cases)
autosomal recessive
symptoms
diabetes mellitus
early death
epiphyseal dysplasia
hemolysis
hypoglycemia
infections (severe or recurrent)
liver failure
microcephaly
neutropenia (decreased neutrophils)
onset, infant
pancreatic insufficiency
renal failure, acute/chronic
short stature
laboratory finding
Adipic acid0.000.00 increasedurineno data
Literature
Wenger DAWilliams CScreening for lysosomals disordersTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00587-6171991
Fregin Aet al.Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16Blood10003229-32322002
Robbins RCet al.Cardiac transplantation for hypertrophic cardiomyopathy associated with Sengers syndromeAnn Thorac Surg6001425-14271995
Ausseil Jet al.Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8J Med Genet410941-9452004
White PCAldosterone synthase deficiency and related disordersMol Cell Endocrinol217081-872004