Klinische FragestellungMonosomie 7-Prädisposition-Syndrome, Differentialdiagnose

NGS +

• Alias: Watson disease (NF1)
• Allelic: Colorectal cancer (TP53)
• Allelic: Dursun syndrome (G6PC3)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Noonan syndrome 3 (KRAS)
• Allelic: Oculoectodermal syndrome, somatic (KRAS)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
• Aplastic anemia, susceptibility to (SBDS)
• Ataxia-pancytopenia syndrome (SAMD9L)
• Ataxia-telangiectasia (ATM) Bloom syndrome (BLM)
• Bone marrow failure syndrome 1 (SRP72)
• Bone marrow failure syndrome 2 (ERCC6L2)
• Bone marrow failure syndrome 3 (DNAJC21)
• Bone marrow failure syndrome 5 (TP53)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Diamond-Blackfan anemia 1 (RPS19)
• Diamond-Blackfan anemia 10 (RPS26)
• Diamond-Blackfan anemia 3 (RPS24)
• Diamond-Blackfan anemia 4 (RPS17)
• Diamond-Blackfan anemia 5 (RPL35A)
• Diamond-Blackfan anemia 6 (RPL5)
• Diamond-Blackfan anemia 7 (RPL11)
• Diamond-Blackfan anemia 9 (RPS10)
• Dyskeratosis congenita, AD 2 (TERT)
• Dyskeratosis congenita, AD 3 (TINF2)
• Dyskeratosis congenita, AD 4 (RTEL1)
• Dyskeratosis congenita, AR 1 (NOP10)
• Dyskeratosis congenita, AR 2 (NHP2)
• Dyskeratosis congenita, AR 3 (WRAP53)
• Dyskeratosis congenita, AR 4 (TERT)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Dyskeratosis congenita, AR 6 (PARN)
• Dyskeratosis congenita, XL (DKC1)
• Emberger syndrome (GATA2)
• Familial adenomatous polyposis 4 (MSH3)
• Fanconi anemia, complementation group A (FANCA)
• Fanconi anemia, complementation group B (FANCB)
• Fanconi anemia, complementation group C (FANCC)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group D2 (FANCD2)
• Fanconi anemia, complementation group E (FANCE)
• Fanconi anemia, complementation group F (FANCF)
• Fanconi anemia, complementation group G (FANCG)
• Fanconi anemia, complementation group I (FANCI)
• Fanconi anemia, complementation group J (BRIP1)
• Immunodeficiency 21 (GATA2)
• Juvenile myelomonocytic leukemia (CBL)
• LEOPARD syndrome 1 (PTPN11)
• LIG4 syndrome (LIG4)
• Leukemia, acute myeloid (CEBPA)
• Leukemia, acute myeloid (RUNX1)
• Leukemia, acute myeloid (TERT)
• Leukemia, acute myeloid, somatic (CEBPA)
• Leukemia, acute myeloid, somatic (ETV6)
• Leukemia, acute myeloid, somatic (KRAS)
• Leukemia, acute myeloid, susceptibility to (GATA2)
• Leukemia, juvenile myelomonocytic, somatic (PTPN11)
• Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
• MIRAGE syndrome (SAMD9)
• Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
• Monosomy 7 myelodysplasia and leukemia syndrome 2 (SAMD9)
• Multiple myeloma, resistance to (LIG4)
• Myelodysplastic syndrome, susceptibility to (GATA2)
• Myelofibrosis with myeloid metaplasia, somatic (MPL)
• Myeloproliferative/lymphoproliferative neoplasms, familial, multiple types, susceptibility (DDX41)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Neutropenia, cyclic (ELANE)
• Neutropenia, nonimmune chronic idiopathic, of adults (GFI1)
• Neutropenia, severe congenital 1, AD (ELANE)
• Neutropenia, severe congenital 2, AD (GFI1)
• Neutropenia, severe congenital 3, AR (HAX1)
• Neutropenia, severe congenital 4, AR (G6PC3)
• Neutropenia, severe congenital, 5, AR (VPS45)
• Neutropenia, severe congenital, 6, AR (JAGN1)
• Neutropenia, severe congenital, 8, AD (SRP54)
• Nijmegen breakage syndrome (NBN)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Osteopetrosis, AR 1 (TCIRG)
• Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
• RAS-associated autoimmune leukoproliferative disorder (KRAS)
• RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
• Revesz syndrome (TINF2)
• Shwachman-Diamond syndrome (SBDS)
• Shwachman-Diamond syndrome 2 (EFL1)
• Thrombocythemia 2 (MPL)
• Thrombocytopenia 2 (ANKRD26)
• Thrombocytopenia 5 (ETV6)
• Thrombocytopenia with beta-thalassemia, XL (GATA1)
• Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
• Thrombocytopenia, congenital amegakaryocytic (MPL)
• Werner syndrome (WRN)
• Xeroderma pigmentosum, group C (XPC)