{"id":27103,"date":"2024-05-26T12:31:45","date_gmt":"2024-05-26T10:31:45","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27103"},"modified":"2025-08-26T11:01:02","modified_gmt":"2025-08-26T09:01:02","slug":"etv6-deficiency","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/etv6-deficiency\/","title":{"rendered":"ETV6 Deficiency"},"content":{"rendered":"

ETV6 Deficiency \u2013\u00a0Definition<\/h2><\/div>
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ETV6 deficiency or thrombocytopenia 5 (OMIM #616216) is a genetic disease caused by pathogenic variants in the ETV6<\/em> gene. It is characterized by mild to moderate thrombocytopenia with or without a tendency to bleed, macrocytosis, and an increased risk of developing acute leukemia (especially B-ALL), myelodysplastic syndrome (MDS), and \u2013 more rarely \u2013 solid tumors.<\/p>\n<\/div>

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

TEL deficiency, thrombocytopenia 5 with a predisposition to malignancy<\/p>\n<\/div><\/div><\/div><\/div>

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

ETV6 <\/i>(also TEL<\/i>)<\/p>\n<\/div><\/div><\/div><\/div>

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

ETV6<\/p>\n<\/div><\/div><\/div><\/div>

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

Transcription factor that plays an important role in hematopoiesis and embryonic development<\/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>

Approximately 1% of B-ALL occur during childhood<\/p>\n<\/div><\/div><\/div><\/div>

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

Nearly all mutations occur in the ETS domain, which mediates DNA binding<\/p>\n<\/div><\/div><\/div><\/div>

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

Approximately 25% develop acute leukemia and\/or MDS.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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