What is WOLFRAM SYNDROME 1 (WFS1)?

rare (1:770000 UK) autosomal recessive

Gibt es eine deutsche Bezeichnung?

Wolfram-Syndrom Typ 1; DIDMOAD-Syndrom

Disease	WOLFRAM SYNDROME 1 (WFS1)
Synonym	DIABETES MELLITUS AND INSIPIDUS WITH OPTIC ATROPHY AND DEAFNESS
OMIM	222300 OMIM = Online Mendelian Inheritance of Men
Orphanet	3463
Protein (UniProt)	Wolframin
Gene locus	4p16.1
ICD	E13.8
Summary	rare (1:770000 UK) autosomal recessive
Laboratory findings	D-Glucose inc (blood) Ketone bodies (urine) inc (urine) Osmolality dec (urine) Osmolality inc (serum)
Symptoms	anemia ataxia behavior, abnormal or bizarre, confusion behavior, anxiety cardiomyopathy dementia diabetes insipidus diabetes mellitus dysarthria dysphagia early death growth retardation, poor growth hearing defect, deafness hydronephrosis hyperglycemia hypothyroidism ketosis, ketoacidosis nystagmus onset, adolescent onset, childhood optic atrophy peripheral neuropathy polydipsia (increased drinking) polyuria psychosis ptosis (drooping eyelid) retinopathy seizures strokelike episodes tremor or twitching urinary tract defects