Coffin-Siris Syndrome 3

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OMIM 57 614608 Disease Ontology 12 DOID:0070045 MedGen 42 C3553248 CN123923

MeSH 44 D008607 SNOMED-CT via HPO 69 263681008 40159009 25273001 271611007 103276001 15188001 343087000 95828007 249321001 708670007 246635007 397540003 7973008 271607001 29966009 399939002 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 16026008 199612005 22033007 111266001 64217002 123983008 237836003 78164000 more UMLS 73 C3553248

OMIM : ⁵⁷ 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, is also known as mental retardation, autosomal dominant 15, 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). Affiliated tissues include brain, bone and heart, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Disease Ontology : ¹² An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23.

Clinical features from OMIM:

614608

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

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