Klinische FragestellungKnochenmarks-Dysfunktion, erblich; Differentialdiagnose

NGS +

[Sanger]

Triphasisch, mit 2-5 Jahren (am häufigsten vererbt), zwischen 20-25 Jahren, nach 65 Jahren (erworbene Ursachen); vererbt 10%-15%, 30% pädiatrisch -> 65/1 000 000 Lebendgeburten/Jahr

• Alias: Bone marrow failure syndromes, inherited
• Allelic: AIDS, rapid progression to (IFNG)
• Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
• Allelic: Cartilage-hair hypoplasia (RMRP)
• Allelic: Dyskeratosis congenita, AD 2 (TERT)
• Allelic: Dyskeratosis congenita, AD 4 (RTEL1)
• Allelic: Dyskeratosis congenita, AR 4 (TERT)
• Allelic: Dyskeratosis congenita, AR 5 (RTEL1)
• Allelic: Emberger syndrome (GATA2)
• Allelic: Hepatitis C virus, response to therapy of (IFNG)
• Allelic: Immunodeficiency 21 (GATA2)
• Allelic: Immunodeficiency 69, mycobacteriosis (IFNG)
• Allelic: Juvenile myelomonocytic leukemia (CBL)
• Allelic: Leukemia, acute lymphoblastic (NBN)
• Allelic: Leukemia, acute myeloid (TERT)
• Allelic: Leukemia, acute myeloid, susceptibility to (GATA2)
• Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
• Allelic: Melanoma, cutaneous malignant, 9 (TERT)
• Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
• Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
• Allelic: Myocardial infarction, susceptibility to (GCLC)
• Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTR)
• Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTRR)
• Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
• Allelic: Neuropathy, hereditary motor + sensory, Russe type (HK1)
• Allelic: Nijmegen breakage syndrome (NBN)
• Allelic: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (CBL)
• Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Allelic: Proteinuria, chronic benign (CUBN)
• Allelic: Resistance to malaria due to G6PD deficiency (G6PD)
• Allelic: Retinitis pigmentosa 79 (HK1)
• Allelic: TSC2 angiomyolipomas, renal, modifier of (IFNG)
• Allelic: Thrombocythemia 2 (MPL)
• Allelic: Thrombocytopenia with beta-thalassemia, XL (GATA1)
• Allelic: Thrombocytopenia, XL (WAS)
• Allelic: Thrombocytopenia, XL, intermittent (WAS)
• Allelic: Thrombocytopenia, XL, with /-out dyserythropoietic anemia (GATA1)
• Allelic: Thrombocytopenia, congenital amegakaryocytic (MPL)
• Allelic: Tuberculosis, protection against (IFNG)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Allelic: Wilms tumor (BRCA2)
• Allelic: Wiskott-Aldrich syndrome (WAS)
• Allelic: XFE progeroid syndrome (ERCC4)
• Allelic: Xeroderma pigmentosum, group F (ERCC4)
• Allelic: Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
• Acute myeloid leukaemia [panelapp] (NPM1)
• Adenosine triphosphate, elevated, of erythrocytes (PKLR)
• Allelic: Cowden syndrome 7 (SEC23B
• Allelic: Distal renal tubular acidosis 1 (SLC4A1)
• Allelic: Dystonia 9 (SLC2A1)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Allelic: Lymphatic malformation 6 (PIEZO1)
• Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Alpha-thalassemia/mental retardation syndrome (ATRX)
• Anauxetic dysplasia 1 (RMRP)
• Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
• Anemia, hemolytic, Rh-null, regulator type (RHAG)
• Anemia, hemolytic, due to UMPH1 deficiency (NT5C3A)
• Anemia, hypochromic microcytic, with iron overload 1 (SLC11A2)
• Anemia, neonatal hemolytic, fatal or near-fatal (SPTB)
• Anemia, sideroblastic, 1 (ALAS2)
• Anemia, sideroblastic, 2, pyridoxine-refractory (SLC25A38)
• Anemia, sideroblastic, with ataxia (ABCB7)
• Aplastic anemia (IFNG; NBN, PRF1, SBDS)
• Aplastic anemia, susceptibility to (SBDS)
• Ataxia-pancytopenia syndrome (SAMD9L)
• Atransferrinemia (TF)
• Bone marrow failure syndrome 2 (ERCC6L2)
• Bone marrow failure syndrome 3 (DNAJC21)
• Congenital dyserythropoietic anemia type III [panelapp] (KIF23)
• Cryohydrocytosis (SLC4A1)
• Dehydrated hereditary stomatocytosis with/-out pseudohyperkalemia +/- perinatal edema (PIEZO1)
• Diamond-Blackfan anemia 1 (RPS19)
• Diamond-Blackfan anemia 10 (RPS26)
• Diamond-Blackfan anemia 13 (RPS29)
• Diamond-Blackfan anemia 4 (RPS17)
• Diamond-Blackfan anemia 5 (RPL35A)
• Diamond-Blackfan anemia 6 (RPL5)
• Diamond-Blackfan anemia 7 (RPL11)
• Diamond-Blackfan anemia 8 (RPS7)
• Diamond-Blackfan anemia 9 (RPS10)
• Diamond-blackfan anemia 3 (RPS24)
• Distal renal tubular acidosis 4 with hemolytic anemia (SLC4A1)
• Dyserythropoietic anemia, congenital, type II (SEC23B)
• Dyserythropoietic anemia, congenital, type Ia (CDAN1)
• Dyserythropoietic anemia, congenital, type Ib (C15orf41 syn. CDIN1)
• Dyskeratosis congenita, AD 3 (TINF2)
• Dyskeratosis congenita, AR 2 (NHP2)
• Dyskeratosis congenita, AR 3 (WRAP53)
• Dyskeratosis congenita, XL (DKC1)
• Elliptocytosis-1 (EPB41)
• Elliptocytosis-2 (SPTA1)
• Elliptocytosis-3 (SPTB)
• Exocrine pancreatic insufficiency, dyserythropoietic anemia + calvarial hyperostosis (COX4I2)
• Familial MDS; Myelodysplastic syndromes (CEBPA)
• 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 (BRIP)
• Fanconi anemia, complementation group L (FANCL)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group O (RAD51C)
• Fanconi anemia, complementation group P (SLX4)
• Fanconi anemia, complementation group Q (ERCC4)
• Fanconi anemia, complementation group S (BRCA1)
• Fanconi anemia, complementation group T (UBE2T)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• Glycogen storage disease VII (PFKM)
• Glycogen storage disease XII (ALDOA)
• Hemolytic anemia due to adenylate kinase deficiency (AK1)
• Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (GCLC)
• Hemolytic anemia due to hexokinase deficiency (HK1)
• Hemolytic anemia due to triosephosphate isomerase deficiency (TPI1)
• Hemolytic anemia, CD59-mediated, with/-out immune-mediated polyneuropathy (CD59)
• Hemolytic anemia, G6PD deficient; favism (G6PD)
• Homocystinuria-megaloblastic anemia, cbl E type (MTRR)
• Homocystinuria-megaloblastic anemia, cblG complementation type (MTR)
• Imerslund-Grasbeck syndrome 1 (CUBN)
• Imerslund-Grasbeck syndrome 2 (AMN)
• Immunodeficiency 52 (LAT)
• Immunodeficiency, common variable, 13 (IKZF1)
• Iron-refractory iron deficiency anemia (TMPRSS6)
• MIRAGE s. [myelodyspl., infection, growth restr., adr. hypoplasia, genit. abn., enteropathy] (SAMD9)
• Majeed syndrome (LPIN2)
• Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFR)
• Mental retardation-hypotonic facies syndrome, XL (ATRX)
• Monosomy 7 myelodysplasia and leukemia syndrome 1 (SAMD9L)
• Myelodysplastic syndrome (MDS), Paediatric (CBL)
• Myelodysplastic syndrome (MDS), Paediatric (FLT3)
• Myelodysplastic syndrome, susceptibility to (GATA2)
• Myelofibrosis with myeloid metaplasia, somatic (MPL)
• Myelokathexis, isolated (CXCR4)
• Myopathy, lactic acidosis + sideroblastic anemia 1 (PUS1)
• Myopathy, lactic acidosis + sideroblastic anemia 2 (YARS2)
• 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 5, AR (VPS45)
• Neutropenia, severe congenital 7, AR (CSF3R)
• Neutropenia, severe congenital, XL (WAS)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Ovalocytosis, SA type (SLC4A1)
• Overhydrated hereditary stomatocytosis (RHAG)
• Porphyria, congenital erythropoietic (UROS)
• Protoporphyria, erythropoietic, XL (ALAS2)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL)
• Pyropoikilocytosis (SPTA1)
• Pyruvate kinase deficiency (PKLR)
• Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (HOXA11)
• Revesz syndrome (TINF2)
• Shwachman-Diamond syndrome (SBDS)
• Shwachman-Diamond syndrome 2 (EFL1)
• Sneddon syndrome (ADA2)
• Spherocytosis, type 1 (ANK1)
• Spherocytosis, type 2 (SPTB)
• Spherocytosis, type 3 (SPTA1)
• Spherocytosis, type 4 (SLC4A1)
• Spherocytosis, type 5 (EPB42)
• Syndromic intellectual disability; cytopenia [panelapp] (RAP1B)
• Thiamine-responsive megaloblastic anemia syndrome (SLC19A2)
• Thrombotic thrombocytopenic purpura, hereditary (ADAMTS13)
• Transcobalamin II deficiency (TCN2)
• Vasculitis, autoinflammation, immunodeficiency + hematologic defects syndrome (ADA2)
• WHIM syndrome (CXCR4)
• [Blood groups Diego, Froese, Swann, Waldner, Wright (SLC4A1)
• [Malaria, resistance to (SLC4A1)