Notes in syndromes

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Status	Last Update	Fields
Published	12/13/2024	~40% of retinoblastoma syndrome cases are inhertited in an {{c4::autosomal-dominant}} pattern due to {{c5::RB}} genetic alter…
Published	12/13/2024	{{c1::BAP1 hereditary cancer predisposition syndrome}} are inhertited in an {{c2::autosomal-dominant}} pattern due to {{c3::B…
Published	12/13/2024	{{c1::Familial atypical multiple mole melanoma syndrome (FAMMM)}} is inhertited in an {{c2::autosomal-dominant}} pattern due to {{…
Published	12/13/2024	{{c8::WAGR}} syndrome is a {{c1::NON-familially}} inherited syndrome involving {{c2::deletion}} of the {{c3::WT1}}&…
Published	12/13/2024	{{c8::Denys-Drash}} is a {{c1::NON-familially}} inherited syndrome involving {{c2::point mutations}} of the {{c3::WT1}}&…
Published	12/13/2024	{{c1::Von Hippel-Lindau}} syndrome is an {{c2::autosomal dominantly}} inherited syndrome involving the {{c3::VHL}} gene …
Published	12/13/2024	{{c1::Rhabdoid tumor predisposition}} syndrome is an {{c2::autosomal dominantly}} inherited syndrome involving the {{c3:…
Published	12/13/2024	{{c1::Li Fraumeni}} syndrome is an {{c2::autosomal dominantly}} inherited syndrome involving the {{c3::P53}} gene a…
Published	12/13/2024	{{c1::Hereditary diffuse gastric cancer}} syndrome is an {{c2::autosomal dominantly}} inherited syndrome involving the {…
Published	12/13/2024	{{c1::Peutz-Jeghers}} syndrome is an {{c2::autosomal dominantly}} inherited syndrome involving the {{c3::STK11/LKB1}}&nb…
Published	12/13/2024	{{c1::Gorlin}} syndrome is an {{c2::autosomal dominantly}} OR {{c3::sporadically}} inherited syndrome involving the {{c4…
Published	12/13/2024	Slide-to-syndrome: hybrid chromophobe renal cell carcinma and oncocytoma.Most likely syndrome?{{c1::Birt-Hogg-Dube syndrome (~100%)}}.
Published	12/13/2024	Slide-to-syndrome: Medullary thyroid carcinoma.Most likely syndrome?{{c1::MEN2A}} OR {{c1::MEN2B}} syndrome (~25%).
Published	12/13/2024	Slide-to-syndrome: Angiomyolipoma.Most likely syndrome?{{c1::Tuberous sclerosis}} syndrome (~20%).
Published	12/13/2024	Slide-to-syndrome: Gynelogical sex cord stromal tumor with annular tubules.Most likely syndrome?{{c1::Peutz-Jeghers}} syndrome (~30-40%).
Published	12/13/2024	Slide-to-syndrome: Pancreas with clear cell neuroendocrine tumor and clear cell serous cystadenoma.Most likely syndrome?{{c1::Von Hippel-Lindau}} synd…
Published	12/13/2024	Slide-to-syndrome: Mammary medullary carcinoma.Most likely syndrome?{{c1::BRCA1}} mutation (~10%).
Published	12/13/2024	Slide-to-syndrome: Breast carcinoma in males.Most likely syndrome?{{c1::BRCA2}} mutation (~5-40%).
Published	12/13/2024	Slide-to-syndrome: Breast and ovarian serous carcinoma.Most likely syndrome?{{c1::BRCA1}} mutation (>50%).
Published	12/13/2024	Slide-to-syndrome: Wilms tumor.Most likely syndrome?{{c1::WAGR}}, {{c1::Denys-Drash}}, or {{c1::Beckwith–Wiedemann}} syndromes (~10-15%).
Published	12/13/2024	{{c1::Amyloidosis}} can result from a a paraneoplastic syndrome associated with {{c2::multiple myeloma}} or {{c3::Waldenstrom macr…
Published	12/13/2024	{{c1::Necrolytic migratory erythema}} can result from a a paraneoplastic syndrome associated with {{c2::pancreatic glucagonoma/neu…
Published	12/13/2024	{{c1::Acanthosis nigricans}} can result from a a paraneoplastic syndrome associated with {{c2::gastric adenocarcinomas}} due …
Published	12/13/2024	{{c1::Myasthenia gravis}} can result from a a paraneoplastic syndrome associated with {{c2::thymoma}} due to a immunologic me…
Published	12/13/2024	{{c1::Pure red cell aplasia}} can result from a a paraneoplastic syndrome associated with {{c2::thymoma}} due to a immunologi…
Published	12/13/2024	{{c1::Syndrome of innappropriate ADH (SIADH)}} can result from a a paraneoplastic syndrome associated with {{c2::small cell carcin…
Published	12/13/2024	{{c1::Trousseau}} syndrome/{{c4::migratory superficial phlebitis}} can result from a a paraneoplastic syndrome associated with&nbs…
Published	12/13/2024	{{c1::Dermatomyositis}} can result from a a paraneoplastic syndrome associated with {{c2::adenocarcinomas (lung, pancreas, stomach…
Published	12/13/2024	{{c1::McCune-Albright}} syndrome is a {{c2::NON-familially}} inherited syndrome involving {{c3::mosaicism for a mutation}}&nb…
Published	12/13/2024	{{c3::Familial SDHB-related paraganglioma/ pheochromocytoma}} syndromes include:1. {{c1::Carney-Stratakis syndrome}}.2. {{c2::Carney triad}}.
Published	12/13/2024	{{c1::Carney triad}} is inhertited in a {{c2::non-familial}} pattern due to {{c3::SDHC}} genetic alterations involving&n…
Published	12/13/2024	{{c1::Carney-Stratakis}} syndrome is inhertited in a {{c2::autosomal dominant}} pattern due to gentic alterations involving {…
Published	12/13/2024	{{c1::MEN2A}} or {{c4::Sipple}} syndrome is inhertited in a {{c2::autosomal dominant}} pattern due to {{c3::RET}} g…
Published	12/13/2024	{{c1::MEN2B}} or {{c4::Gorlin}} syndrome is inhertited in a {{c2::autosomal dominant}} pattern due to {{c3::RET}}&n…
Published	12/13/2024	{{c1::MEN1}} or {{c4::Wermer}} syndrome is inhertited in a {{c2::autosomal dominant}} pattern due to {{c3::MEN1 (me…
Published	12/13/2024	{{c1::Hereditary papillary renal cell carcinoma}} syndrome is inhertited in a {{c2::autosomal dominant}} pattern due to {{c3::MET}…
Status	Last Update	Fields