{"id":27175,"date":"2024-05-26T16:11:04","date_gmt":"2024-05-26T14:11:04","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27175"},"modified":"2025-08-27T10:22:55","modified_gmt":"2025-08-27T08:22:55","slug":"shwachman-diamond-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/shwachman-diamond-syndrome\/","title":{"rendered":"Shwachman Diamond Syndrome"},"content":{"rendered":"

Shwachman Diamond Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Shwachman Diamond Syndrome (OMIM #260400) is the second most common cause of exocrine pancreatic insufficiency in children after cystic fibrosis. The disease is associated with bone marrow failure and an increased risk of malignant diseases of the hematopoietic system. Clinically, patients often present with skeletal malformations and short stature.<\/p>\n<\/div>

Synonyms:<\/p>\n<\/div><\/div><\/div>

SDS, Shwachman-Bodian-Diamond syndrome, congenital pancreatic lipomatosis<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

DNAJC21, EFL1, SBDS, SRP54<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div>

ATP-dependent DNA helicase DDX11<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Cohesion of sister chromatids and DNA replication, tumor suppressor<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

in most cases autosomal recessive (DNAJC21<\/em>, EFL1<\/em>, or SBDS<\/em>), autosomal dominant (SRP54<\/em>), de novo<\/em><\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

1: 77.000<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>