Klinische FragestellungDiamond-Blackfan Anämie, aplastische; Differentialdiagnose

NGS +

• Alias: Aase-Smith-Syndrom II Aase-Syndrom
• Alias: Anämie, hypoplastische, kongenitale, Typ Blackfan-Diamond
• Alias: Aplasie der roten Blutkörperchen, angeborene
• Alias: Aplastische Anämie, isolierte kongenitale
• Alias: Diamond-Blackfan Syndrom
• Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
• Allelic: Breast cancer, male, susceptibility to (BRCA2)
• Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: Erythrocytosis, familial, 5 (EPO)
• Allelic: Glioblastoma 3 (BRCA2)
• Allelic: Medulloblastoma (BRCA2)
• Allelic: Melanoma, cutaneous malignant, 9 (TERT)
• Allelic: Microvascular complications of diabetes 2 (EPO)
• Allelic: Pancreatic cancer 2 (BRCA2)
• Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Allelic: Prostate cancer (BRCA2)
• Allelic: Wilms tumor (BRCA2)
• Anauxetic dysplasia 1 (RMRP)
• Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
• Aplastic anemia, susceptibility to (SBDS)
• Bone marrow failure syndrome 3 (DNAJC21)
• Bone marrow failure syndrome 4 (MYSM1)
• Cartilage-hair hypoplasia (RMRP)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Diamond-Blackfan anemia 1 (RPS19)
• Diamond-Blackfan anemia 10 (RPS26)
• Diamond-Blackfan anemia 11 (RPL26)
• Diamond-Blackfan anemia 12 (RPL15)
• Diamond-Blackfan anemia 13 (RPS29)
• Diamond-Blackfan anemia 14 with mandibulofacial dysostosi (TSR2)
• Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
• Diamond-Blackfan anemia 16 (RPL27)
• Diamond-Blackfan anemia 18 (RPL18)
• Diamond-Blackfan anemia 19 (RPL35)
• Diamond-Blackfan anemia 20 (RPS15A)
• 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 8 (RPS57)
• Diamond-Blackfan anemia 9 (RPS10)
• Diamond-Blackfan anemia-like (EPO)
• Dyskeratosis congenita, AD 2 (TERT)
• Dyskeratosis congenita, AD 4 (RTEL1)
• Dyskeratosis congenita, AD 6 (ACD)
• Dyskeratosis congenita, AD(TINF2)
• Dyskeratosis congenita, AR 1 (NOP10)
• Dyskeratosis congenita, AR 2 (NNHP2)
• Dyskeratosis congenita, AR 3 (WRAP53)
• Dyskeratosis congenita, AR 4 (TERT)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Dyskeratosis congenita, AR 6 (PARN)
• Dyskeratosis congenita, AR 7 (ACD)
• Dyskeratosis congenita, XL (DKC1)
• Fanconi anemia complementation group... (FANCA, -B, -C, -D2, -E, -F, -G, -I)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group S (BRCA1)
• Leukemia, acute myeloid (TERT)
• Metaphyseal dysplasia without hypotrichosis (RMRP)
• Neutropenia, severe congenital, 8, AD (SRP54)
• 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)
• Revesz syndrome (TINF2)
• Severe combined immunodef., microceph., growth retard., sensitivity ionizing radiation (NHEJ1)
• Shwachman-Diamond syndrome (SBDS)
• Shwachman-Diamond syndrome 2 (EFL1)
• Sneddon syndrome (ADA2)
• Thrombocytopenia with beta-thalassemia, XL (GATA1)
• Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
• Vasculitis, autoinflammation, immunodeficiency + hematologic defects syndrome (ADA2)