{"id":27173,"date":"2024-05-26T16:02:54","date_gmt":"2024-05-26T14:02:54","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27173"},"modified":"2025-08-26T13:51:59","modified_gmt":"2025-08-26T11:51:59","slug":"samd9l-deficiency","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/samd9l-deficiency\/","title":{"rendered":"SAMD9L Deficiency"},"content":{"rendered":"

SAMD9L Deficiency \u2013\u00a0Definition<\/h2><\/div>
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SAMD9L deficiency, also called ataxia pancytopenia syndrome (ATXPC, OMIM #159550) is a genetic disease caused by pathogenic variants in the SAMD9L<\/em> gene. It is characterized by cerebellar ataxia, varying degrees of hematological cytopenia, and a predisposition to bone marrow failure, myelodysplastic syndrome, and acute myeloid leukemia.<\/p>\n<\/div>

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

Ataxia pancytopenia syndrome<\/p>\n<\/div><\/div><\/div><\/div>

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

SAMD9L<\/em> (sterile alpha motif domain containing 9-like gene)<\/p>\n<\/div><\/div><\/div><\/div>

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

SAMD9L<\/p>\n<\/div><\/div><\/div><\/div>

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

Plays a role in cell proliferation, mostly as a tumor suppressor<\/p>\n<\/div><\/div><\/div><\/div>

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

Autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

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

Unknown<\/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>

Incomplete
\nThe overall phenotypic pattern of hematological and neurological manifestations is very variable.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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