WOLFRAM SYNDROME, DIDMOAD

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Disease	WOLFRAM SYNDROME, DIDMOAD
Synonym	DIABETES MELLITUS AND INSIPIDUS WITH OPTIC ATROPHY AND DEAFNESS
OMIM	222300 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	mutations in the WFS1 gene
Gene locus	4p16.1
genetests.org	search search on genetest.org by MIM 222300 search search on genetest.org by WOLFRAM+SYNDROME Testing - View a listing of laboratories that provide clinical testing for this disorder Research - View a listing of laboratories that provide testing on a research basis only. Resources - View and print r
Summary	rare (1:770000 UK) autosomal recessive
Clinical symptoms	anemia ataxia behavior, abnormal or bizarre, confusion diabetes insipidus diabetes mellitus early death hearing defect, deafness hydronephrosis hyperglycemia ketosis optic atrophy polydipsia (increased drinking) polyuria psychosis retinopathy seizures urinary tract defects
Abnormal Findings in blood	Glucose Normal: 3.30-5.50 mmol/l \| Significant : - increased
Abnormal Findings in serum	Osmolality Normal: 275.00-295.00 mOsm/kg H2O \| Significant : - increased
Abnormal Findings in urine	Ketone bodies, manifestation of DM \| Significant : - +/++/+++ Osmolality Normal: 50.00-1400.00 mOsm/kg H2O \| Significant : - decreased
Treatment	desmopressin (DDAVP) insulin
Literature	There are 16 publications available. Click here to open the relevant WOLFRAM SYNDROME, DIDMOAD publications