Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Schimke Immunoosseous dysplasia

Immunoosseous dysplasia of the Schimke type is an autosomal recessive disorder characterized by skeletal abnormalities, T-cell defects, and nephrotic type progressive nephritis. Mutations of the SMARCAL1 gene are responsible for the disease.

Historical Aspects

The disease was first described, when Schimke in 1971 published a case report.[Error: Macro 'ref' doesn't exist]

Clinical Findings

Schimke immunoosseous dysplasia (SIOD) is characterized by bone abnormalities, nephrotic syndrome, and T-cell deficiency. The disproportionate short stature is the result of spondyloepiphyseal dysplasia. Other radiological findings are ovoid and mildly flattened vertebral bodies, small deformed capital femoral epiphyses, and shallow dysplastic acetabular fossae.

The patient are diagnosed with steroid resistant nephrotic syndrome within 5 years after growth retardation becomes obvious. Renal injury develops into end stage renal failure.

Systematic

Nephrotic syndrome
Congenital nephrotic syndrome type 01 (Finnish type)
Congenital nephrotic syndrome type 02
Congenital nephrotic syndrome type 03
Congenital nephrotic syndrome type 04
Congenital nephrotic syndrome type 05 (Pierson syndrome)
Congenital nephrotic syndrome type 06
Congenital nephrotic syndrome type 07
Congenital nephrotic syndrome type 08
Congenital nephrotic syndrome type 09
Congenital nephrotic syndrome type 10
Congenital nephrotic syndrome type 11
Congenital nephrotic syndrome type 12
Congenital nephrotic syndrome type 13
Donnai-Barrow syndrome
GPC5
Glomerulotubular nephropathy
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Lipoprotein glomerulopathy
Schimke Immunoosseous dysplasia
SMARCAL1
XPO5

References:

1.

Boerkoel CF et al. (2002) Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

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2.

Taha D et al. (2004) Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.

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3.

Clewing JM et al. (2007) Schimke immuno-osseous dysplasia: a clinicopathological correlation.

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4.

Clewing JM et al. (2007) Schimke immunoosseous dysplasia: suggestions of genetic diversity.

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5.

Spranger J et al. (1991) Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

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6.

Schimke RN et al. (1971) Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.

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7.

OMIM.ORG article

Omim 242900 [^]
Update: May 10, 2019