Schimke immuno-osseous dysplasia

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Schimke immuno-osseous dysplasia

An autosomal recessive condition (OMIM:242900) characterised by spondyloepiphyseal dysplasia with growth retardation, renal failure, T-cell immunodeficiency and recurrent infections, skin pigmentation beginning in childhood and, in about half of patients, hyperthyroidism; about half have episodic cerebral ischaemia with infarcts.

Molecular pathology
Defects of SMARCAL1, which encodes a protein with helicase and ATPase activities that regulates gene transcription, cause Schimke immuno-osseous dysplasia.
References in periodicals archive ?
Conclusively, SIOD should be considered especially in patients with steroid-resistant nephrotic syndrome displaying disproportionate growth failure and other common and life-threatening findings should be investigated.