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GTR Home > Conditions/Phenotypes > Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1

Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1

Summary

Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis-1 (CHINE1) is an X-linked syndromic disorder that is phenotypically more severe in males than females. Affected males present with the full constellation of symptoms in early infancy, resulting in death in early childhood. Affected females develop early-onset hearing impairment, often with early-onset cataracts, but only rarely have nephrotic syndrome or proteinuria; they do not have enterocolitis. The variable manifestations in females may be influenced by skewed X-inactivation. Telomeres are shortened, but classic mucocutaneous features of DKCX are not typically observed. CHINE1 is due to a ribosomal pseudouridylation defect (Balogh et al., 2020). See also CHINE2 (620425), caused by mutation in the NOP10 gene (606471). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CBF5, CHINE1, DKC, DKCX, NAP57, NOLA4, XAP101, DKC1
    Summary: dyskerin pseudouridine synthase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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