Schimke immuno-osseous dysplasia

Summary
Synonym
  • Schimke immunoosseous dysplasia
  • Schimke syndrome
  • immunoosseous dysplasia Schimke type
  • spondyloepiphyseal dysplasia - nephrotic syndrome
Definition
A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
Super Class
autosomal recessive disease spondyloepimetaphyseal dysplasia
External Links
Disease Ontology
DOID:0060490
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2760 GM2A ganglioside GM2 activator
3074 HEXB hexosaminidase subunit beta
56994 CHPT1 choline phosphotransferase 1
57016 AKR1B10 aldo-keto reductase family 1 member B10
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024