KEGG DISEASE: Wolfram syndrome

KEGG

DISEASE: Wolfram syndrome

Entry

H00854                      Disease

Name

Wolfram syndrome

Subgroup

Autosomal dominant Wolfram-like syndrome (WFSL)

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 in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain other specified disorders of pituitary gland
     H00854  Wolfram syndrome

Pathway

Protein processing in endoplasmic reticulum

Gene

(WFS1/WFSL) WFS1 [HSA:7466] [KO:K14020]
(WFS2) CISD2 [HSA:493856] [KO:K23882]

Other DBs

ICD-11:

MeSH:

OMIM:

222300 604928 614296

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

PMID:20738327 (WFS1)

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

Reference

PMID:20649540 (WFS2)

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

PMID:16648378 (WFSL)

Authors

Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L

Title

Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

Journal

J Med Genet 43:435-40 (2006)
DOI:10.1136/jmg.2005.034892

LinkDB

» Japanese version

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