Onkologie
Adenomatoöse Polyposis Coli APC
(APC-Gen, MIM *175100)
Brustkrebs, Familiär
(BRCA1-Gen, MIM *113705; BRCA2-Gen, +600185)
Carney-Komplex Typ 1
(PRKAR1A-Gen, MIM *188830)
Cowden Syndrom
(PTEN-Gen, MIM *601728)
Familiärer isolierter Hyperparathyreoidismus, FIHP
(HRPT2-Gen, MIM *602393; MEN1-Gen, MIM *131100; HRPT3, CASR-Gen, MIM +601199)
Familiäre isolierte Somatopinome, GH sezernierende Hypophysenadenome
(Aryl Hydrocarbon Receptor Interacting Protein, AIP-Gen, MIM *605555)
Hereditäres non-polyposis Colon-Carcinom, Lynch-Syndrom
(HNPCC, MSH2-Gen, MIM *609309; MLH1-Gen, MIM *120436; MSH6-Gen, MIM *600678; MLH3-Gen, *604395; PMS1-Gen, MIM *600258; PMS2-Gen, MIM *600259; TGFBR2-Gen, MIM *190182)
HPT-Jaw Tumor Syndrom
(HRTP2, Parafibromin-Gene, MIM *607393)
Li Fraumeni-Syndrom
(Tumorsuppressor-Gene p53, TP53, MIM *191170)
Mikrosatelliten Instabilität, MSI
Multiple endokrine Neoplasie Typ 1
(MEN 1-Gen, MIM *131100)
Multiple endokrine Neoplasie Typ 2A and 2B
(RET-Proto-Onkogen, MIM +164761)
Multiple endokrine Neoplasie Typ 4
(CDKN1B-Gen, MIM *600778)
Multiple Phäochromozytome, Paragangliom
(PGL1, Succinat Dehydrogenase Subunit D, SDHD-Gen, MIM *602690; PGL3, SDH Subunit C, SDHC-Gene, MIM *602413; PGL4, SDH Subunit B, SDHB-Gene, MIM *185470)
Neurofibromatose Typ 1
(Neurofibromin-Gen, NF1-Gen, MIM +162200)
Peutz-Jeghers Syndrom
(intestinale polypöse Hamartome, Serine/Threonine Proteinkinase 11-Gen, PJS, MIM *602216)
Septin9
(DNA-Methylierung, SEPT9-Marker, MIM *604061)
Von Hippel-Lindau-Syndrom
(VHL-Gen, MIM *688537)