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Summary
WOLCOTT-RALLISON SYNDROME
WRS EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
226980
OMIM = Online Medalian Inheritance of Men
1667
2p11.2
very rare (~60 cases)
autosomal recessive
mutation in the EIF2AK3 gene
multisystem disorder with onset of diabetes in the neonatal period or early infancy [Uca A et al. 2016]
symptoms
diabetes mellitus
early death
epiphyseal dysplasia
hemolysis
hepatomegaly (large liver)
hyperglycemia
hypoaldosteronism
infections (severe or recurrent)
ketosis, ketoacidosis
liver failure
microcephaly (<2 SD for age)
multicystic dysplastic kidneys
neutropenia (decreased neutrophils)
onset, childhood
onset, infancy
onset, neonatal
osteoporosis
pancreatic insufficiency
renal failure, acute/chronic
short stature
skeletal changes, skeletal abnormalities
laboratory finding
Adipic acid15.00300.00 mmol/mol creatinineurine
D-Glucose5.0030.00 mmol/lblood
3-Hydroxysebacic acid50.00500.00 increasedurine
Ketone bodies increasedurine
Literature
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Tuschl K,et al.Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in manAm J Hum Genet903457-4662012
Segni MDisorders of the Thyroid Gland in Infancy, Childhood and AdolescenceEndotext Internet002017
Wenger DAWilliams CScreening for lysosomals disordersTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00587-6171991
Whyte MPHypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatmentNat Rev Endocrinol124233-2462016
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
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Ausseil Jet al.Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8J Med Genet410941-9452004
Scott LJAsfotase Alfa: A Review in Paediatric-Onset HypophosphatasiaDrugs762255-2622016
Orimo HPathophysiology of hypophosphatasia and the potential role of asfotase alfaTher Clin Risk Manag120777-7862016
White PCAldosterone synthase deficiency and related disordersMol Cell Endocrinol217081-872004
International Alport Mutation ConsortiumDNA variant databases improve test accuracy and phenotype prediction in Alport syndromePediatr Nephrol296971-9772014
Mornet E,Nunes MEHypophosphatasiaGeneReviews-« Internet002016