IllnessDiamond-Blackfan anemia, aplastic; differential diagnosis

NGS +

Diamond-Blackfan anemia (DBA) is a disorder that primarily affects the bone marrow, it is associated with various other anomalies (microcephaly, hypertelorism, ptosis, broad, flat nasal bridge, micrognathia, cleft lip/palate, nuchal bridge, malformed/missing thumbs, short stature, eye, kidney and heart anomalies). In addition to anemia, DBA carries an increased risk of developing myelodysplastic syndrome, acute myeloid leukemia, osteosarcoma and other cancers. The severity of DBA can vary even within a family. Increasingly, individuals are being identified with "non-classical" DBA having less severe symptoms (mild anemia that occurs later into adulthood, sometimes no bone marrow problems). About 25-30% of DBA patients have mutations in the RPS19 gene, another 25-30% in the RPL5, RPL11, RPL35A, RPS10, RPS17, RPS24 or RPS26 genes. The disease is inherited autosomal-dominantly (rarely X-linked); more than half of patients have de novo mutations. As the molecular genetic yield barely exceeds 80%, a negative DNA test result does not rule out a clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK7047/

• Alias: Aase syndrome
• Alias: Aase-Smith-Syndrom II
• Alias: Anämie, hypoplastische, kongenitale, Typ Blackfan-Diamond
• Alias: Aplasie der roten Blutkörperchen, angeborene
• Alias: Aplastische Anämie, isolierte kongenitale
• Alias: Blackfan Diamond anemia
• Alias: Blackfan-Diamond disease
• Alias: Blackfan-Diamond syndrome
• Alias: Chronic congenital agenerative anemia
• Alias: Congenital erythroid hypoplastic anemia
• Alias: Congenital hypoplastic anemia of Blackfan and Diamond
• Alias: Congenital pure red cell anemia
• Alias: Congenital pure red cell aplasia
• Alias: Diamond-Blackfan Syndrom
• Alias: Erythrogenesis imperfecta
• Alias: Hypoplastic congenital anemia
• Alias: Inherited erythroblastopenia
• Alias: Pure hereditary red cell aplasia
• 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)