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GTR Home > Conditions/Phenotypes > Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2

Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2

Summary

Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis-2 (CHINE2) is an autosomal recessive syndromic disorder characterized by onset of this constellation of features in infancy, resulting in death in early childhood. Telomeres are shortened, but classic mucocutaneous features of DKCB1 are not typically observed. CHINE2 is due to a ribosomal pseudouridylation defect (Balogh et al., 2020). See also CHINE1 (301108), caused by mutation in the DKC1 gene (300126). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CHINE2, DKCB1, NOLA3, NOP10P, PFBMFT9, NOP10
    Summary: NOP10 ribonucleoprotein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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