Name: Schimke immunoosseous dysplasia | Acronym: SIOD
Alt. names:

Gene: SMARCAL1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2002

Last updated on: 2023-02-28 16:41:18 by

OMIM: 242900

Orphanet: 1830

MONDO: -

DOID: -

ClinGen:

It is a multisystemic disorder characterized by spondyloepiphyseal dysplasia (affects the bones and spine), short stature, facial dimorphism, T-cell immunodeficiency (increases susceptibility to infections), and glomerulonephritis with nephrotic syndrome (leads to end-stage renal failure). Other symptoms are hypertension, proteinuria, hyperpigmented macules, and fine hair. Neurological manifestations include atherosclerosis and cerebrovascular diseases, which manifest as migraines, cerebral ischemias, cardiac dysfunctions, and cognitive deficits. Additionally, hypothyroidism, enteropathy and normocytic or microcytic anemia may appear.

The involvement of multiple systems in SIOD makes a multispecialized therapeutic approach necessary for the various clinical manifestations of the disease. Dialysis and kidney transplantation (with elevated risk for rejection due to underlying immune disorder), supplementation of hematopoietic growth factors for neutropenia, orthopedic surgery if needed, preventive antiviral therapies and vaccines, anticoagulants, immunosuppressive therapy (for autoimmune manifestations) and thyroid hormone supplementation.