KEGG DISEASE: Schimke immunoosseous dysplasia

DISEASE: Schimke immunoosseous dysplasia

Entry

H00580                      Disease

Name

Schimke immunoosseous dysplasia

Description

Schimke immunoosseous dysplasia is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia resulting in a short-trunk disproportionate dwarfism, T cell immunodeficiency, and progressive nephropathy with focal segmental glomerulosclerosis.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H00580  Schimke immunoosseous dysplasia

Gene

SMARCAL1 [HSA:50485] [KO:K14440]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:20301550

Authors

Baradaran-Heravi A, Morimoto M, Lucke T, Boerkoel CF

Title

Schimke Immunoosseous Dysplasia

Journal

GeneReviews (1993)

Reference

PMID:20013129

Authors

Hunter KB, Lucke T, Spranger J, Smithson SF, Alpay H, Andre JL, Asakura Y, Bogdanovic R, Bonneau D, Cairns R, Cransberg K, Frund S, Fryssira H, Goodman D, Helmke K, Hinkelmann B, Lama G, Lamfers P, Loirat C, Majore S, Mayfield C, Pontz BF, Rusu C, Saraiva JM, Schmidt B, Shoemaker L, Sigaudy S, Stajic N, Taha D, Boerkoel CF

Title

Schimke immunoosseous dysplasia: defining skeletal features.

Journal

Eur J Pediatr 169:801-11 (2010)
DOI:10.1007/s00431-009-1115-9

LinkDB

» Japanese version

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