KEGG DISEASE: Wolcott-Rallison syndrome

KEGG

DISEASE: Wolcott-Rallison syndrome

Entry

H00766                      Disease

Name

Wolcott-Rallison syndrome

Description

Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal insulin-requiring diabetes and associated with skeletal dysplasia and growth retardation. Diabetes appears during the first months of life in most patients and major skeletal manifestations include the long bones, pelvis and vertebrae. Liver is also affected in the disease.

Category

Endocrine and metabolic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Diabetes mellitus
    5A13  Diabetes mellitus, other specified type
     H00766  Wolcott-Rallison syndrome

Pathway

Protein processing in endoplasmic reticulum

Gene

EIF2AK3 [HSA:9451] [KO:K08860]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Julier C, Nicolino M

Title

Wolcott-Rallison syndrome.

Journal

Orphanet J Rare Dis 5:29 (2010)
DOI:10.1186/1750-1172-5-29

Reference

Authors

Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG

Title

Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature.

Journal

Acta Paediatr 93:1195-201 (2004)
DOI:10.1111/j.1651-2227.2004.tb02748.x

Reference

Authors

Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn T, Wilson DI, Hanley NA

Title

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

Journal

J Med Genet 40:685-9 (2003)
DOI:10.1136/jmg.40.9.685

LinkDB

» Japanese version

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