Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2(CHINE2)

MedGen UID:: 1841226
•Concept ID:: C5830590
•: Disease or Syndrome

Synonym:	CHINE2

Gene (location): Gene(s) directly associated with this condition or phenotype.	NOP10 (15q14)

Monarch Initiative:	MONDO:0958193
OMIM®:	620425

Definition

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]

Clinical features

From HPO

Focal segmental glomerulosclerosis

MedGen UID:: 4904
•Concept ID:: C0017668
•: Disease or Syndrome

Segmental accumulation of scar tissue in individual (but not all) glomeruli.

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Nephrotic syndrome

MedGen UID:: 10308
•Concept ID:: C0027726
•: Disease or Syndrome

Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.

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Mesangial hypercellularity

MedGen UID:: 924090
•Concept ID:: C4281741
•: Cell or Molecular Dysfunction

Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.

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Enterocolitis

MedGen UID:: 4966
•Concept ID:: C0014356
•: Disease or Syndrome

An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).

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Cerebellar hypoplasia