Details of Disease | DrugMAP

General Information of Disease (ID: DISKVKXN)

Disease Name	Wolcott-Rallison syndrome
Synonyms	epiphyseal dysplasia multiple with early-onset diabetes mellitus; Iddm-Med syndrome; Med-Iddm syndrome; epiphyseal dysplasia, multiple, with early-onset diabetes mellitus; Wolcott Rallison syndrome; MED-IDDM syndrome; IDDM-MED syndrome; Wolcott-Rallison syndrome; WRS; early-onset diabetes mellitus with multiple epiphyseal dysplasia
Definition	Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DIS1JG9A: Spondyloepiphyseal dysplasia DISKVKXN: Wolcott-Rallison syndrome
Disease Identifiers	MONDO ID MONDO_0009192 MESH ID C536739 UMLS CUI C0432217 OMIM ID 226980 MedGen ID 140926 Orphanet ID 1667 SNOMED CT ID 254066006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EIF2AK3	TT5OU0D	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EIF2S1	OTM0GDTP	moderate	Genetic Variation	[2]
EIF2S2	OTXF0B09	moderate	Genetic Variation	[2]
EIF2S3	OTARRES9	moderate	Genetic Variation	[2]
ALPK3	OTLUYSMO	Strong	Genetic Variation	[3]
PPP1R15B	OTL5RWA8	Strong	Genetic Variation	[4]
EIF2AK3	OT0DZGY4	Definitive	Autosomal recessive	[1]
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⏷ Show the Full List of 6 DOT(s)

References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	Endoplasmic reticulum stress and the development of diabetes: a review.Diabetes. 2002 Dec;51 Suppl 3:S455-61. doi: 10.2337/diabetes.51.2007.s455.
3	Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome.J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):967-70. doi: 10.1515/jpem-2013-0469.
4	A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. Diabetes. 2015 Nov;64(11):3951-62. doi: 10.2337/db15-0477. Epub 2015 Jul 9.