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	Genetic Conditions: Blood & Lymph The circulatory and lymphatic systems are the body's transport system. They carry nutrients and other important molecules to cells, and carry away waste. The body is more susceptible to illness and infection when these systems do not function properly. - A - A-alphalipoprotein Neuropathy see Tangier disease A-T see Ataxia-telangiectasia Aase-Smith syndrome II see Diamond-Blackfan anemia Aase syndrome see Diamond-Blackfan anemia Abetalipoproteinemia Acanthocytosis see Abetalipoproteinemia Acanthocytosis with neurologic disorder see Chorea-acanthocytosis Aceruloplasminemia Aldrich syndrome see Wiskott-Aldrich syndrome Alpha high density lipoprotein deficiency disease see Tangier disease Alpha thalassemia Alpha thalassemia X-linked mental retardation syndrome Analphalipoproteinemia see Tangier disease Anemia, Diamond-Blackfan see Diamond-Blackfan anemia Anemia, dyserythropoietic, congenital see Congenital dyserythropoietic anemia Anemia, hereditary sideroblastic see X-linked sideroblastic anemia Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia Angiohemophilia see von Willebrand disease ANH1 see X-linked sideroblastic anemia Antithrombin III Deficiency see hereditary antithrombin deficiency APC resistance, Leiden type see factor V Leiden thrombophilia Apolipoprotein B deficiency see Abetalipoproteinemia Arakawa syndrome 1 see Glutamate formiminotransferase deficiency Ataxia-telangiectasia ATM see Ataxia-telangiectasia ATR-X syndrome see Alpha thalassemia X-linked mental retardation syndrome ATRX syndrome see Alpha thalassemia X-linked mental retardation syndrome - B - Basal ganglia disease, adult-onset see Neuroferritinopathy Bassen-Kornzweig syndrome see Abetalipoproteinemia BDA see Diamond-Blackfan anemia BDS see Diamond-Blackfan anemia Benign paroxysmal peritonitis see Familial Mediterranean fever Beta thalassemia Betalipoprotein deficiency disease see Abetalipoproteinemia Blackfan Diamond anemia see Diamond-Blackfan anemia Blackfan-Diamond disease see Diamond-Blackfan anemia Blackfan-Diamond syndrome see Diamond-Blackfan anemia Blue baby syndrome see Methemoglobinemia, beta-globin type - C - C1 esterase inhibitor deficiency see Hereditary angioedema C1 inhibitor deficiency see Hereditary angioedema CDA see Congenital dyserythropoietic anemia Central nervous system cavernous hemangioma see Cerebral cavernous malformation Cerebral cavernous malformation Cerebroside lipidosis syndrome see Gaucher disease CHAC see Chorea-acanthocytosis Cholesterol thesaurismosis see Tangier disease Chorea-acanthocytosis Choreoacanthocytosis see Chorea-acanthocytosis Chromosome 1q21.1 deletion syndrome, 200-KB see Thrombocytopenia-absent radius syndrome Chronic congenital agenerative anemia see Diamond-Blackfan anemia Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis see Majeed syndrome CIT see Citrullinemia Citrullinemia Congenital antithrombin III deficiency see Hereditary antithrombin deficiency Congenital betalipoprotein deficiency syndrome see Abetalipoproteinemia Congenital dyserythropoietic anemia Congenital erythroid hypoplastic anemia see Diamond-Blackfan anemia Congenital familial lymphedema see Milroy disease Congenital folate malabsorption see Hereditary folate malabsorption Congenital hypoplastic anemia of Blackfan and Diamond see Diamond-Blackfan anemia Congenital methemoglobinemia see Methemoglobinemia, beta-globin type Congenital pure red cell anemia see Diamond-Blackfan anemia Congenital pure red cell aplasia see Diamond-Blackfan anemia Congenital sideroblastic anaemia see X-linked sideroblastic anemia - D - DBA see Diamond-Blackfan anemia Deficiency of glucose-6-phosphate dehydrogenase see glucose-6-phosphate dehydrogenase deficiency Deficiency of glutathione synthase see Glutathione synthetase deficiency Deficiency of glutathione synthetase see Glutathione synthetase deficiency 11q deletion disorder see Jacobsen syndrome 11q deletion syndrome see Jacobsen syndrome 11q23 deletion disorder see Jacobsen syndrome Diamond-Blackfan anemia Dysprothrombinemia see Prothrombin deficiency - E - Eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome EME see Ethylmalonic encephalopathy Encephalopathy, petechiae, and ethylmalonic aciduria see ethylmalonic encephalopathy EPEMA syndrome see Ethylmalonic encephalopathy Erythroblastic anemia see Beta thalassemia Erythrogenesis imperfecta see Diamond-Blackfan anemia Erythroid 5-aminolevulinate synthase deficiency see X-linked sideroblastic anemia Ethylmalonic encephalopathy - F - Factor II Deficiency see Prothrombin deficiency Factor V Leiden thrombophilia Familial apoceruloplasmin deficiency see Aceruloplasminemia Familial cavernous hemangioma see cerebral cavernous malformation Familial Cavernous Malformation see cerebral cavernous malformation Familial Cerebral Cavernous Angioma see cerebral cavernous malformation Familial Cerebral Cavernous Malformation see cerebral cavernous malformation Familial high density lipoprotein deficiency disease see Tangier disease Familial hypoalphalipoproteinemia see Tangier disease Familial hypobetalipoproteinemia see Abetalipoproteinemia Familial Mediterranean fever Familial Thrombotic Thrombocytopenia Purpura see thrombotic thrombocytopenic purpura Familial Turner syndrome see Noonan syndrome Familial veno-occlusive disease with immunodeficiency see Hepatic veno-occlusive disease with immunodeficiency Female pseudo-Turner syndrome see Noonan syndrome Ferritin-related neurodegeneration see Neuroferritinopathy FIGLU-uria see Glutamate formiminotransferase deficiency FMF see Familial Mediterranean fever Folic acid transport defect see Hereditary folate malabsorption Formiminoglutamic aciduria see Glutamate formiminotransferase deficiency Formiminotransferase deficiency see Glutamate formiminotransferase deficiency - G - G6PD Deficiency see glucose-6-phosphate dehydrogenase deficiency G6PDD see glucose-6-phosphate dehydrogenase deficiency Gaucher disease GD see Gaucher disease Glucocerebrosidase deficiency see Gaucher disease Glucocerebrosidosis see Gaucher disease glucose-6-phosphate dehydrogenase deficiency Glucosyl cerebroside lipidosis see Gaucher disease Glucosylceramidase deficiency see Gaucher disease Glucosylceramide beta-glucosidase deficiency see Gaucher disease Glucosylceramide lipidosis see Gaucher disease Glutamate formiminotransferase deficiency Glutathione synthetase deficiency - H - HAE see Hereditary angioedema HANE see Hereditary angioedema HbS disease see Sickle cell disease HDL lipoprotein deficiency disease see Tangier disease Hemoglobin M disease see Methemoglobinemia, beta-globin type Hemoglobin S disease see Sickle cell disease Hemoglobinuria, Paroxysmal see Paroxysmal nocturnal hemoglobinuria Hemophilia Hepatic veno-occlusive disease with immunodeficiency Hereditary angioedema Hereditary antithrombin deficiency Hereditary ceruloplasmin deficiency see Aceruloplasminemia Hereditary ferritinopathy see Neuroferritinopathy Hereditary folate malabsorption Hereditary hemorrhagic telangiectasia Hereditary iron-loading anemia see X-linked sideroblastic anemia Hereditary lymphedema type I see Milroy disease Hereditary periodic fever syndromes see Familial Mediterranean fever Hereditary resistance to activated protein C see factor V Leiden thrombophilia Hereditary thrombophilia due to protein C deficiency see Protein C deficiency Hereditary thrombophilia due to protein S deficiency see Protein S deficiency HHT see Hereditary hemorrhagic telangiectasia Hyperprothrombinemia see Prothrombin thrombophilia Hypoceruloplasminemia see Aceruloplasminemia Hypoplastic congenital anemia see Diamond-Blackfan anemia Hypoprothrombinemia see Prothrombin deficiency - I - IMD2 see Wiskott-Aldrich syndrome Immunodeficiency 2 see Wiskott-Aldrich syndrome Inherited erythroblastopenia see Diamond-Blackfan anemia Intracerebral cavernous hemangioma see Cerebral cavernous malformation - J - Jacobsen syndrome - K - Kerasin histiocytosis see Gaucher disease Kerasin lipoidosis see Gaucher disease Kerasin thesaurismosis see Gaucher disease - L - Lipoid histiocytosis (kerasin type) see Gaucher disease Lipoprotein deficiency disease, HDL, familial see Tangier disease Louis-Bar syndrome see Ataxia-telangiectasia Lymphedema-distichiasis syndrome Lymphedema with distichiasis see Lymphedema-distichiasis syndrome - M - 3MGA see 3-methylglutaconic aciduria Majeed syndrome Male Turner syndrome see Noonan syndrome Marchiafava-Micheli syndrome see Paroxysmal nocturnal hemoglobinuria McLeod neuroacanthocytosis syndrome Mediterranean anemia see Beta thalassemia Mediterranean fever, familial see Familial Mediterranean fever MEF see Familial Mediterranean fever Methemoglobinemia, beta-globin type 3-methylglutaconic aciduria Microangiopathic hemolytic anemia see thrombotic thrombocytopenic purpura Microcytemia, beta type see Beta thalassemia Microsomal triglyceride transfer protein deficiency disease see Abetalipoproteinemia Milroy disease Moschkowitz disease see Thrombotic thrombocytopenic purpura - N - Neuroacanthocytosis see Chorea-acanthocytosis Neuroferritinopathy Nonne-Milroy lymphedema see Milroy disease Noonan syndrome - O - Osler-Rendu disease see Hereditary hemorrhagic telangiectasia Osler-Rendu-Weber disease see Hereditary hemorrhagic telangiectasia Osler's disease see Hereditary hemorrhagic telangiectasia 5-oxoprolinemia see Glutathione synthetase deficiency 5-oxoprolinuria see Glutathione synthetase deficiency - P - Paroxysmal nocturnal hemoglobinuria Periodic disease see Familial Mediterranean fever Periodic peritonitis see Familial Mediterranean fever Protein C deficiency Protein S deficiency Prothrombin deficiency Prothrombin thrombophilia Pseudo-Ullrich-Turner syndrome see Noonan syndrome Pure hereditary red cell aplasia see Diamond-Blackfan anemia Purpura, thrombotic thrombocytopenic see Thrombotic thrombocytopenic purpura Pyroglutamic acidemia see Glutathione synthetase deficiency Pyroglutamic aciduria see Glutathione synthetase deficiency - Q - - R - Radial aplasia-amegakaryocytic thrombocytopenia see thrombocytopenia-absent radius syndrome Radial aplasia-thrombocytopenia syndrome see thrombocytopenia-absent radius syndrome Recurrent polyserositis see Familial Mediterranean fever Reimann periodic disease see Familial Mediterranean fever Rendu-Osler-Weber see Hereditary hemorrhagic telangiectasia Rogers syndrome see Thiamine-responsive megaloblastic anemia syndrome - S - SCD see Sickle cell disease SCIDX1 see X-linked severe combined immunodeficiency Sickle cell disease Sickling disorder due to hemoglobin S see Sickle cell disease Siegal-Cattan-Mamou disease see Familial Mediterranean fever Systemic hemosiderosis due to aceruloplasminemia see Aceruloplasminemia - T - Tangier disease TAR syndrome see thrombocytopenia-absent radius syndrome Telangiectasia, cerebello-oculocutaneous see Ataxia-telangiectasia 11q terminal deletion disorder see Jacobsen syndrome Thalassemia, beta type see Beta thalassemia Thiamine-responsive megaloblastic anemia syndrome Thrombocytopenia-absent radius syndrome Thrombotic thrombocytopenic purpura TRMA see thiamine-responsive megaloblastic anemia syndrome TTP see Thrombotic thrombocytopenic purpura Turner-like syndrome see Noonan syndrome Turner syndrome in female with X chromosome see Noonan syndrome Turner's phenotype, karyotype normal see Noonan syndrome - U - Ullrich-Noonan syndrome see Noonan syndrome - V - Veno-occlusive disease and immunodeficiency syndrome see Hepatic veno-occlusive disease with immunodeficiency VODI see Hepatic veno-occlusive disease with immunodeficiency von Willebrand disease - W - Weber-Osler see Hereditary hemorrhagic telangiectasia Wiskott-Aldrich syndrome Wolff periodic disease see Familial Mediterranean fever - X - X chromosome-linked sideroblastic anemia see X-linked sideroblastic anemia X-linked alpha-thalassemia/mental retardation syndrome see Alpha thalassemia X-linked mental retardation syndrome X-linked severe combined immunodeficiency X-linked sideroblastic anemia X-linked sideroblastic anemia and ataxia X-SCID see X-linked severe combined immunodeficiency XLMR-hypotonic face syndrome see Alpha thalassemia X-linked mental retardation syndrome XLSA see X-linked sideroblastic anemia XLSA/A see X-linked sideroblastic anemia and ataxia XSCID see X-linked severe combined immunodeficiency - Y - - Z - The information in this page is primarily for reference and education. It is not intended to be a substitute for the advice of a physician. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.