KEGG DISEASE: Schaaf-Yang syndrome

KEGG

DISEASE: Schaaf-Yang syndrome

Entry

H02325                      Disease

Name

Schaaf-Yang syndrome

Supergrp

Prader-Willi syndrome [DS:H00478]
Male hypogonadism [DS:H02027]

Description

Schaaf-Yang syndrome is a Prader-Willi-like disease [DS:H00478], manifesting developmental delay, intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. It has been reported that truncating mutations in MAGEL2, which is located in the Prader-Willi critical region 15q11-13, cause this disease.

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
H02325 Schaaf-Yang syndrome

Gene

MAGEL2 [HSA:54551] [KO:K23950]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y

Title

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Journal

Nat Genet 45:1405-8 (2013)
DOI:10.1038/ng.2776

Reference

Authors

Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP

Title

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Journal

Genet Med 19:45-52 (2017)
DOI:10.1038/gim.2016.53

LinkDB

» Japanese version

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