immunoosseous dysplasia, Schimke type

Genetics

• caused by mutations in the SMARCAL1 gene

Clinical manifestations

• spondyloepiphyseal dysplasia
• peculiar clinical phenotype
• numerous lentigines
• slowly progressive immune defect
• immune-complex nephritis
• leads to death at about age 8 years.

More general terms

• skeletal dysplasia

Additional terms

• SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1; sucrose nonfermenting protein 2-like 1; hepA-related protein; hHARP (SMARCAL1, HARP)