KEGG DISEASE: Intellectual disability and myopathy syndrome

KEGG

DISEASE: Intellectual disability and myopathy syndrome

Entry

H02924                      Disease

Name

Intellectual disability and myopathy syndrome

Description

Intellectual disability and myopathy syndrome (IDMYS) is a novel syndrome characterized by mild intellectual disability, a characteristic face, myopathy, and cerebral white matter hyperintensity. It has been reported that loss-of-function mutations in ABCC9 cause this syndrome. ABCC9 encodes a subunit of ATP-sensitive potassium channels.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02924 Intellectual disability and myopathy syndrome

Gene

ABCC9 [HSA:10060] [KO:K05033]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Smeland MF, McClenaghan C, Roessler HI, Savelberg S, Hansen GAM, Hjellnes H, Arntzen KA, Muller KI, Dybesland AR, Harter T, Sala-Rabanal M, Emfinger CH, Huang Y, Singareddy SS, Gunn J, Wozniak DF, Kovacs A, Massink M, Tessadori F, Kamel SM, Bakkers J, Remedi MS, Van Ghelue M, Nichols CG, van Haaften G

Title

ABCC9-related Intellectual disability Myopathy Syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.

Journal

Nat Commun 10:4457 (2019)
DOI:10.1038/s41467-019-12428-7

LinkDB

» Japanese version

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