WOLCOTT-RALLISON SYNDROME

Question 1

What is  WOLCOTT-RALLISON SYNDROME?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Wolcott-Rallison-Syndrom; Multiple epiphysäre Dysplasie - früh einsetzender Diabetes

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 226980

Question 4

Which enzymes are involved?

Accepted Answer

Eukaryotic translation initiation factor 2-alpha kinase 3

Disease	WOLCOTT-RALLISON SYNDROME
Synonym	WRS; EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
OMIM	226980 OMIM = Online Mendelian Inheritance of Men
Orphanet	1667
Protein (UniProt)	Eukaryotic translation initiation factor 2-alpha kinase 3
Gene locus	2p11.2
ICD	E13
Summary	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]
Laboratory findings	Adipic acid inc (urine) 3-Hydroxysebacic acid inc (urine) D-Glucose inc (blood) Ketone bodies (urine) inc (urine)
Symptoms	diabetes mellitus epiphyseal dysplasia skeletal changes, skeletal abnormalities early death 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