Details of Disease

General Information of Disease (ID: DISGEL3Z)

Disease Name Schimke immuno-osseous dysplasia
Synonyms
spondyloepiphyseal dysplasia nephrotic syndrome; IMMUNOOSSEOUS dysplasia, Schimke type; Schimke Immunoosseous dysplasia; SIOD; Schimke IMMUNOOSSEOUS dysplasia; spondyloepiphyseal dysplasia-nephrotic syndrome; Schimke syndrome; Schimke immunoosseous dysplasia; immunoosseous dysplasia Schimke type; spondyloepiphyseal dysplasia - nephrotic syndrome; Schimke immuno-osseous dysplasia
Definition A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
Disease Hierarchy
DIS1TMWN: Immuno-osseous dysplasia
DIS1JG9A: Spondyloepiphyseal dysplasia
DISGEL3Z: Schimke immuno-osseous dysplasia
Disease Identifiers
MONDO ID
MONDO_0009458
MESH ID
C536629
UMLS CUI
C0877024
OMIM ID
242900
MedGen ID
164078
Orphanet ID
1830
SNOMED CT ID
723995003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GM2A TTGOFW6 Limited Genetic Variation [1]
HEXB TTKIBKM Limited Genetic Variation [1]
SMARCA4 TTVQEZS Strong Genetic Variation [2]
ANGPTL4 TTWALY5 Definitive Genetic Variation [2]
PTN TTA9EJK Definitive Genetic Variation [2]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
AKR1B10 DEP6GT1 Definitive Genetic Variation [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SMARCA2 OTSGJ8SV Strong Genetic Variation [2]
ANGPTL2 OTB6JG41 Definitive Genetic Variation [2]
ANKS4B OT1MREUS Definitive Genetic Variation [2]
PANK2 OTFBW889 Definitive Genetic Variation [2]
SMARCAL1 OTTKXLUZ Definitive Autosomal recessive [3]
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References

1 Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.Mol Cell Probes. 2013 Feb;27(1):32-7. doi: 10.1016/j.mcp.2012.08.007. Epub 2012 Aug 27.
2 Annealing helicase HARP closes RPA-stabilized DNA bubbles non-processively.Nucleic Acids Res. 2017 May 5;45(8):4687-4695. doi: 10.1093/nar/gkx147.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.