Coffin-Siris Syndrome 3 (CSS3)

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Disease Ontology 12 DOID:0070045 OMIM 56 614608 OMIM Phenotypic Series 56 PS135900 PS156200 MeSH 43 D000015 D008607

MedGen 41 C3553248 CN123923 SNOMED-CT via HPO 68 103276001 111266001 123983008 128613002 13213009 15188001 16026008 199612005 22033007 224958001 228156007 237836003 246545002 246635007 247578003 249321001 25273001 263681008 271607001 271611007 29966009 313307000 343087000 397540003 399939002 40159009 64217002 708670007 78164000 7973008 84757009 91138005 91175000 95828007 more UMLS 71 C3553248

OMIM : ⁵⁶ Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). (614608)

MalaCards based summary : Coffin-Siris Syndrome 3, also known as mental retardation, autosomal dominant 15, is related to peripheral nerve schwannoma and spinal canal and spinal cord meningioma, and has symptoms including seizures An important gene associated with Coffin-Siris Syndrome 3 is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include brain, bone and heart, and related phenotypes are seizures and microcephaly

Disease Ontology : ¹² A Coffin-Siris syndrome that has material basis in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23.

UniProtKB/Swiss-Prot : ⁷³ Coffin-Siris syndrome 3: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.

Clinical features from OMIM:

614608

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased IL-13 protein expression	GR00219-A	8.62	CSGALNACT1 SMARCB1

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 3

Search GEO for disease gene expression data for Coffin-Siris Syndrome 3.