FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: Nicolaides-Baraitser syndrome
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General Information
Name
Nicolaides-Baraitser syndrome
FlyBase ID
FBhh0001096
Disease Ontology Term
Parent Disease
OMIM
NICOLAIDES-BARAITSER SYNDROME; NCBRS
Overview

This report describes Nicolaides-Baraitser syndrome (NCBRS), a form of syndromic intellectual disability; NCBRS exhibits autosomal dominant inheritance. The human gene implicated in this disease is SMARCA2, which encodes a core component of SWI/SNF complexes; these complexes regulate transcription via chromatin remodeling. See the report for 'intellectual developmental disorders, SMARCA2,4-related' (FBhh0001097) for information on experimental results using Drosophila models of this and related diseases.

[updated Jul. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: Nicolaides-Baraitser syndrome
OMIM report

[NICOLAIDES-BARAITSER SYNDROME; NCBRS](https://omim.org/entry/601358)

Human gene(s) implicated

[SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 2; SMARCA2](https://omim.org/entry/600014)

Symptoms and phenotype

Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair (summary by Sousa et al., 2009; pubmed:19606471). [from MIM:601358; 2019.07.20]

(OMIM, 2013-)
Genetics

Nicolaides-Baraitser syndrome (NCBRS) is caused by heterozygous mutation in the SMARCA2 gene. [from MIM:601358; 2019.07.20]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

SMARCA2 encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by localized chromatin remodeling (alteration of DNA-nucleosome topology). [Gene Cards, SMARCA2, SMARCA4; 2019.07.22]

(FlyBase Curators, 2013-)
External links
Disease synonyms
NBS
NCBRS
SSRIDD
SWI/SNF-related intellectual disability disorder
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Publicly Available Stocks
        Selected Drosophila transgenes
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        Publicly Available Stocks
        RNAi constructs available
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        Publicly Available Stocks
        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (4)