KEGG   DISEASE: Wolfram syndrome
Entry
H00854                      Disease                                

Name
Wolfram syndrome;
DIDMOAD syndrome
Description
Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Two different categories of WFS (WFS1 and 2) are recognized, each with its own subset of variable symptoms, and resulting from mutations in the WFS1 and CISD2 genes, respectively. The WFS1 encodes an endoplasmic reticulum membrane-embedded protein. ERIS, the protein that CISD2 encodes, also localizes to the endoplasmic reticulum.
Category
Endocrine and metabolic disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Diabetes
   H00854  Wolfram syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain specified disorders of pituitary gland
     H00854  Wolfram syndrome
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Gene
(WFS1) WFS1 [HSA:7466] [KO:K14020]
(WFS2) CISD2 [HSA:493856] [KO:K23882]
Other DBs
ICD-11: 5A61.5
ICD-10: E13.8
MeSH: D014929
OMIM: 222300 604928
Reference
  Authors
Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, Permutt A, Halaby G
  Title
Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.
  Journal
J Clin Endocrinol Metab 89:1656-61 (2004)
DOI:10.1210/jc.2002-030015
Reference
  Authors
Chen YF, Wu CY, Kirby R, Kao CH, Tsai TF
  Title
A role for the CISD2 gene in lifespan control and human disease.
  Journal
Ann N Y Acad Sci 1201:58-64 (2010)
DOI:10.1111/j.1749-6632.2010.05619.x
Reference
  Authors
Rigoli L, Lombardo F, Di Bella C
  Title
Wolfram syndrome and WFS1 gene.
  Journal
Clin Genet 79:103-17 (2011)
DOI:10.1111/j.1399-0004.2010.01522.x
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