FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: Coffin-Siris syndrome 1
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General Information
Name
Coffin-Siris syndrome 1
FlyBase ID
FBhh0001090
Disease Ontology Term
Parent Disease
OMIM
COFFIN-SIRIS SYNDROME 1; CSS1
Overview

This report describes Coffin-Siris syndrome 1 (CSS1), which is a subtype of Coffin-Siris syndrome; it is also called mental retardation autosomal dominant 12 (MRD12). CSS1 exhibits autosomal dominant inheritance. The human gene implicated in this disease is ARID1A, which encodes a component of SWI/SNF complexes; these complexes regulate transcription via chromatin remodeling. See the report for 'Coffin-Siris syndrome, ARID1A,1B-related' (FBhh0001089) for information on experimental results using Drosophila models of this and related diseases.

[updated Jul. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: Coffin-Siris syndrome
Symptoms and phenotype

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014; pubmed:25169447). [from MIM:135900; 2019.07.19]

(OMIM, 2013-)

Coffin-Siris syndrome is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014; pubmed:25169447). [from MIM:135900; 2019.07.19]

(FlyBase Curators, 2013-)
Specific Disease Summary: Coffin-Siris syndrome 1
OMIM report

[COFFIN-SIRIS SYNDROME 1; CSS1](https://omim.org/entry/135900)

Human gene(s) implicated

[AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1B; ARID1B](https://omim.org/entry/614556)

Symptoms and phenotype
Genetics

Coffin-Siris syndrome-1 (CSS1) is caused by heterozygous mutation in the ARID1B gene. [from OIMI:135900 ; 2019.07.20]

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

ARID1A 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, ARID1A, ARID1B; 2019.07.22]

(FlyBase Curators, 2013-)
External links
Disease synonyms
CSS1
mental retardation autosomal dominant 12
MRD12
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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        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (4)