Please note: Any medical or genetic information present in this entry is not intended as a diagnosis of your problem, but rather is provided as a helpful guide for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Information is not necessarily complete. Please see your doctor for diagnosis and treatment.

Please note: DNAtraffic database is the project under construction and information on this page is not finished yet.

Schimke immuno-osseous dysplasia (SIOD)

Defects in SMARCAL1 are a cause of Schimke immuno-osseous dysplasia (SIOD). SIOD causes spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Approximately half of all patients also exhibit hyperthyroidism, while around half also exhibit episodal cerebral ischema.

TYPE: skeletal abnormalities, immunodeficiency

Related patway(s): chromatin remodeling

DNAtraffic protein(s) related to disease: SMARCAL1

OMIM: 242900

Last modification date: Aug. 21, 2011