SE-ATLAS

Cartilage-hair hypoplasia Treacher-Collins syndrome Bowen-Conradi syndrome Multiple endocrine neoplasia Multiple endocrine neoplasia type 4 Hereditary nonpolyposis colon cancer BAP1-related tumor predisposition syndrome Hereditary leiomyomatosis and renal cell cancer Saethre-Chotzen syndrome Schinzel-Giedion syndrome Perlman syndrome Common variable immunodeficiency Shwachman-Diamond syndrome Silver-Russell syndrome Peutz-Jeghers syndrome PTEN hamartoma tumor syndrome Familial papillary thyroid carcinoma with renal papillary neoplasia Fanconi anemia Li-Fraumeni syndrome Familial atypical multiple mole melanoma syndrome Silver-Russell syndrome due to a point mutation Familial ovarian cancer RAS-associated autoimmune leukoproliferative disease Rubinstein-Taybi syndrome Oligodontia-cancer predisposition syndrome Mosaic variegated aneuploidy syndrome Hyperparathyroidism-jaw tumor syndrome Inherited renal cancer-predisposing syndrome Familial medullary thyroid carcinoma PCNA-related progressive neurodegenerative photosensitivity syndrome Blue rubber bleb nevus Beckwith-Wiedemann syndrome Ollier disease Simpson-Golabi-Behmel syndrome Tuberous sclerosis complex Constitutional mismatch repair deficiency syndrome Inherited digestive cancer-predisposing syndrome Combined immunodeficiency due to OX40 deficiency Attenuated familial adenomatous polyposis Maffucci syndrome Epidermodysplasia verruciformis Polymalformative genetic syndrome with increased risk of developing cancer Gardner syndrome Diamond-Blackfan anemia N syndrome Intestinal polyposis syndrome McCune-Albright syndrome Alagille syndrome Autoimmune lymphoproliferative syndrome with recurrent viral infections Muir-Torre syndrome Von Hippel-Lindau disease Isolated hemihyperplasia Full NF2-related schwannomatosis Rothmund-Thomson syndrome type 2 Beckwith-Wiedemann syndrome due to 11p15 microduplication Gorlin syndrome Frasier syndrome Werner syndrome Multiple endocrine neoplasia type 2A Hereditary mixed polyposis syndrome Proteus-like syndrome Hereditary clear cell renal cell carcinoma Bannayan-Riley-Ruvalcaba syndrome NTHL1-related attenuated familial adenomatous polyposis Juvenile polyposis syndrome Cockayne syndrome Tyrosinemia type 1 Cronkhite-Canada syndrome Familial colorectal cancer Type X Bloom syndrome DDX41-related hematologic malignancy predisposition syndrome Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Birt-Hogg-Dubé syndrome WAGR syndrome Xeroderma pigmentosum-Cockayne syndrome complex Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Ataxia-telangiectasia-like disorder Familial adenomatous polyposis due to 5q22.2 microdeletion Inherited cancer-predisposing syndrome Noonan syndrome Polymerase proofreading-related adenomatous polyposis Denys-Drash syndrome Nijmegen breakage syndrome Wiskott-Aldrich syndrome Familial adenomatous polyposis X-linked lymphoproliferative disease Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Multiple endocrine neoplasia type 1 Lynch syndrome Hereditary neuroendocrine tumor of small intestine Combined immunodeficiency due to CD27 deficiency Multiple endocrine neoplasia type 2 Xeroderma pigmentosum Cockayne syndrome type 1 Palmoplantar keratoderma-esophageal carcinoma syndrome Alagille syndrome due to 20p12 microdeletion Kostmann syndrome LIG4 syndrome Familial multinodular goiter MITF-related melanoma and renal cell carcinoma predisposition syndrome Lymphoproliferative syndrome Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Autoimmun-lymphoproliferatives Syndrom durch CTLA4-Haploinsuffizienz COFS-Syndrom Autoimmun-lymphoproliferatives Syndrom Cowden-Syndrom Silver-Russell-Syndrom durch Mikrodeletion 7p11.2p13 Silver-Russell-Syndrom durch Imprintingdefekt von 11p15 Beckwith-Wiedemann-Syndrom durch NSD1-Genmutation Cockayne-Syndrom Typ 2 Beckwith-Wiedemann-Syndrom durch CDKN1C-Mangel Vererbtes Krebsprädispositionssyndrom durch biallelische BRCA2-Genmutationen Polyposis-Syndrom, juveniles, frühkindliche Form Beckwith-Wiedemann-Syndrom durch Mikrodeletion 11p15 Xeroderma pigmentosum Variante (XPV) Rubinstein-Taybi-Syndrom durch Mikrodeletion 16p13.3 Cockayne-Syndrom Typ 3 Pigmentierungsdefekte-Palmoplantarkeratose-Hautkarzinom-Syndrom Bazex-Syndrom Proteus-Syndrom Warsaw-Breakage-Syndrom Rubinstein-Taybi-Syndrom durch EP300-Haploinsuffizienz Schöpf-Schulz-Passarge-Syndrom Serratiertes Polyposissyndrom Allgemeine Entwicklungsverzögerung-Lungenzysten-Großwuchs-Wilms-Tumor-Syndrom APC-abhängige adenomatöse attenuierte familiäre Polyposis Alagille-Syndrom durch NOTCH2-Gen-Punktmutationen Costello-Syndrom Nijmegen-Breakage-Syndrom-ähnliche Krankheit Megalenzephalie-Kapillarfehlbildungen-Polymikrogyrie-Syndrom Brust- und/oder Ovarialkrebssyndrom, hereditäres Multiple endokrine Neoplasie Typ 2B Ovarialkarzinom, lagespezifisches MSH3-abhängige adenomatöse attenuierte familiäre Polyposis Melanom und Tumorsyndrom des Nervensystems Autoimmun-lymphoproliferative Krankheit vom Typ Dianzani Beckwith-Wiedemann-Syndrom durch paternale uniparentale Disomie 11 Beckwith-Wiedemann-Syndrom durch 11p15 Translokation/Inversion Silver-Russell-Syndrom durch maternale uniparentale Disomie von Chromosom 11 Turcot-Syndrom mit Polyposis Silver-Russell-Syndrom durch Mikroduplikation 11p15 Dyskeratosis congenita Alagille-Syndrom durch JAG1-Gen-Punktmutationen AXIN2-abhängige adenomatöse attenuierte familiäre Polyposis Familiäre kutane Telangiektasie-Oropharyngealer Krebs-Prädispositionssyndrom Noonan-Syndrom mit multiplen Lentigines MUTYH-abhängige adenomatöse attenuierte familiäre Polyposis Generalisierte juvenile Polyposis/juvenile Polyposis coli Progeroide Merkmale-Hepatozelluläres Karzinom-Prädispositionssyndrom Rubinstein-Taybi-Syndrom durch CREBBP-Genmutation Sotos-Syndrom Ataxia-Teleangiectasia Familiäre Blutplättchen-Störungen mit assoziierter myeloischer Malignität Neurofibromatose Typ 1 STAT3-assoziierte früh beginnende multisystemische Autoimmunkrankheit Retinoblastom, familiäres Nierenzellkarzinom, papilläres, familiäres Brustkrebs, hereditärer Schwannomatose