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 ?
In Schimke immuno-osseous dysplasia, the disease is due to ESRD, recurrent infections and cerebrovascular complications.
It has been reported that diffuse and progressive atherosclerosis is the basic cause of cerebrovascular events in patients with Schimke immuno-osseous dysplasia (7,10).
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.