Chromosome 2p16.3 Deletion Syndrome (SCZD17)

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OMIM® 57 614332 MeSH 44 D012559

MedGen 41 C3280524 C3808494 UMLS 71 C3280524 C3808494

UniProtKB/Swiss-Prot : ⁷³ Schizophrenia 17: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.

MalaCards based summary : Chromosome 2p16.3 Deletion Syndrome, is also known as schizophrenia 17. An important gene associated with Chromosome 2p16.3 Deletion Syndrome is NRXN1 (Neurexin 1). Affiliated tissues include eye, brain and cortex.

OMIM® : ⁵⁷ Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility to autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features. The phenotype is highly variable and shows incomplete penetrance (summary by Dabell et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see 181500. (614332) (Updated 05-Mar-2021)

Clinical features from OMIM®:

614332 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Chromosome 2p16.3 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 2p16.3 Deletion Syndrome.