domingo, 27 de enero de 2019

Blood Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Blood Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Blood Diseases

5q- syndrome 
Aagenaes syndrome 
Abdominal aortic aneurysm 
Acquired agranulocytosis 
Acquired hemophilia 
Acquired hemophilia A 
Acquired pure red cell aplasia 
Acquired Von Willebrand syndrome 
Acute erythroid leukemia 
Acute graft versus host disease 
Acute monoblastic leukemia 
Acute myeloblastic leukemia with maturation 
Acute myeloblastic leukemia without maturation 
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 
Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) 
Acute myelomonocytic leukemia 
Acute panmyelosis with myelofibrosis 
Acute promyelocytic leukemia 
Adenosine Deaminase 2 deficiency 
Adrenocortical carcinoma 
Adult T-cell leukemia/lymphoma 
ALK+ histiocytosis 
Alpha-thalassemia x-linked intellectual disability syndrome 
AML with myelodysplasia-related features 
Anemia due to Adenosine triphosphatase deficiency 
Anemia sideroblastic and spinocerebellar ataxia 
Aneurysm of sinus of Valsalva 
Angioimmunoblastic T-cell lymphoma 
Angioma hereditary neurocutaneous 
Angioma serpiginosum, autosomal dominant 
Angioma serpiginosum, X-linked 
Antiphospholipid syndrome 
Aplasia cutis congenita intestinal lymphangiectasia 
Aplastic anemia 
Arterial calcification of infancy 
Arterial tortuosity syndrome 
Atypical hemolytic uremic syndrome 
Autoimmune lymphoproliferative syndrome 
Autosomal recessive protein C deficiency 
Bannayan-Riley-Ruvalcaba syndrome 
Behçet disease 
Blastic plasmacytoid dendritic cell 
Bleeding disorder due to P2RY12 defect 
Bloom syndrome 
Blue rubber bleb nevus syndrome 
Buerger disease 
Burkitt lymphoma 
Campomelia Cumming type 
Castleman disease 
Cerebral cavernous malformation - Not a rare disease 
Chediak-Higashi syndrome 
Chromosome 17q11.2 deletion syndrome 
Chronic myeloid leukemia 
Chylous ascites 
CLOVES syndrome 
Cobb syndrome 
Cold agglutinin disease 
Congenital amegakaryocytic thrombocytopenia 
Congenital analbuminemia 
Congenital dyserythropoietic anemia type 1 
Congenital dyserythropoietic anemia type 2 
Congenital dyserythropoietic anemia type 3 
Congenital erythropoietic porphyria 
Congenital myasthenic syndrome with episodic apnea 
Congenital pulmonary lymphangiectasia 
Congenital thrombotic thrombocytopenic purpura 
Cutaneous mastocytoma 
Cutis laxa, autosomal recessive type 1 
Cutis marmorata telangiectatica congenita 
Cyclic neutropenia 
Cyclic thrombocytopenia 
Cystic medial necrosis of aorta 
Dahlberg Borer Newcomer syndrome 
Deafness-lymphedema-leukemia syndrome 
Dehydrated hereditary stomatocytosis 
Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema 
Diamond-Blackfan anemia 
Diamond-Blackfan anemia 2 
Diamond-Blackfan anemia 3 
Dyskeratosis congenita 
Dyskeratosis congenita autosomal dominant 
Dyskeratosis congenita autosomal recessive 
Dyskeratosis congenita X-linked 
Ehlers-Danlos syndrome, dysfibronectinemic type 
Eosinophilic granulomatosis with polyangiitis 
Erythema elevatum diutinum 
Essential thrombocythemia 
Evans syndrome 
Extranodal nasal NK/T cell lymphoma 
Fabry disease 
Factor V deficiency 
Factor V Leiden thrombophilia - Not a rare disease 
Factor VII deficiency 
Factor X deficiency 
Factor XI deficiency 
Factor XII deficiency 
Factor XIII deficiency 
Familial hyperthyroidism due to mutations in TSH receptor 
Familial LCAT deficiency 
Familial platelet disorder with associated myeloid malignancy 
Familial thoracic aortic aneurysm and dissection 
Fanconi anemia 
Fetal and neonatal alloimmune thrombocytopenia 
Fibromuscular dysplasia - Not a rare disease 
Follicular lymphoma 
Genuine diffuse phlebectasia 
Giant cell arteritis 
Giant platelet syndrome 
Glanzmann thrombasthenia 
Glucocorticoid-remediable aldosteronism 
Glutamate formiminotransferase deficiency 
Glycogen storage disease type 12 
Glycogen storage disease type 7 
Glycoprotein VI deficiency 
Goodpasture syndrome 
Gorham's disease 
Granulomatosis with polyangiitis 
Granulomatous slack skin disease 
Gray platelet syndrome 
Hairy cell leukemia 
Hashimoto-Pritzker syndrome 
Heinz body anemias 
Hemangioma thrombocytopenia syndrome 
Hemochromatosis - Not a rare disease 
Hemochromatosis type 2 
Hemochromatosis type 3 
Hemochromatosis type 4 
Hemoglobin C disease 
Hemoglobin E disease 
Hemoglobin SC disease 
Hemoglobin SE disease - Not a rare disease 
Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities 
Hemolytic uremic syndrome 
Hemophilia A 
Hemophilia B 
Hemorrhagic shock and encephalopathy syndrome 
Hennekam syndrome 
Henoch-Schonlein purpura 
Heparin-induced thrombocytopenia 
Hereditary antithrombin deficiency 
Hereditary elliptocytosis 
Hereditary folate malabsorption 
Hereditary hemorrhagic telangiectasia 
Hereditary hemorrhagic telangiectasia type 2 
Hereditary hemorrhagic telangiectasia type 3 
Hereditary hemorrhagic telangiectasia type 4 
Hereditary lymphedema type II 
Hereditary methemoglobinemia 
Hereditary paraganglioma-pheochromocytoma 
Hereditary spherocytosis 
Hermansky Pudlak syndrome 2 
High molecular weight kininogen deficiency 
Histiocytosis-lymphadenopathy plus syndrome 
Hoyeraal Hreidarsson syndrome 
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 
Hypereosinophilic syndrome 
Hypersensitivity vasculitis 
Hypocomplementemic urticarial vasculitis 
Hypofibrinogenemia, familial 
Hypotrichosis-lymphedema-telangiectasia syndrome 
Idiopathic neutropenia - Not a rare disease 
Idiopathic thrombocytopenic purpura 
Imerslund-Grasbeck syndrome 
Inclusion body myopathy 2 
Inherited bone marrow failure syndromes - Not a rare disease 
Internal carotid agenesis 
Intrinsic factor deficiency 
Iron-refractory iron deficiency anemia 
Jacobsen syndrome 
Juvenile myelomonocytic leukemia 
Juvenile temporal arteritis 
Kanzaki disease 
Kaposi sarcoma 
Kaposiform Hemangioendothelioma 
Kawasaki disease 
Klippel-Trenaunay syndrome 
Langerhans cell sarcoma 
Large granular lymphocyte leukemia 
Lesch Nyhan syndrome 
Liddle syndrome 
Lipedema - Not a rare disease 
Lissencephaly 2 
Loeys-Dietz syndrome 
Loeys-Dietz syndrome type 1 
Loeys-Dietz syndrome type 2 
Loeys-Dietz syndrome type 3 
Loeys-Dietz syndrome type 4 
Lymphedema and cerebral arteriovenous anomaly 
Lymphedema-distichiasis syndrome 
Lymphomatoid papulosis 
Maffucci syndrome 
Majeed syndrome 
Mantle cell lymphoma 
McLeod neuroacanthocytosis syndrome 
Megalencephaly-capillary malformation syndrome 
Megaloblastic anemia due to dihydrofolate reductase deficiency 
Methemoglobinemia, beta-globin type 
Methylcobalamin deficiency cbl G type 
Methylmalonic acidemia and homocysteinemia type cblX 
Methylmalonic acidemia with homocystinuria type cblC 
Methylmalonic acidemia with homocystinuria type cblD 
Methylmalonic acidemia with homocystinuria type cblF 
Methylmalonic acidemia with homocystinuria type cblJ 
Microcystic lymphatic malformation 
Microscopic polyangiitis 
Milroy disease 
Multicentric Castleman Disease 
Multifocal lymphangioendotheliomatosis with thrombocytopenia 
Multiple myeloma 
Multisystemic smooth muscle dysfunction syndrome 
Myelodysplastic syndromes 
Myeloid sarcoma 
MYH9 related thrombocytopenia 
Neonatal hemochromatosis 
Neutropenia chronic familial 
Neutropenia lethal congenital with eosinophilia 
Non-involuting congenital hemangioma 
Nonspherocytic hemolytic anemia due to hexokinase deficiency 
Noonan syndrome 
Noonan syndrome 1 - See Noonan syndrome 
Noonan syndrome 2 - See Noonan syndrome 
Noonan syndrome 3 - See Noonan syndrome 
Noonan syndrome 4 - See Noonan syndrome 
Noonan syndrome 5 - See Noonan syndrome 
Noonan syndrome 6 - See Noonan syndrome 
Orotic aciduria type 1 
Paris-Trousseau thrombocytopenia 
Parkes Weber syndrome 
Paroxysmal cold hemoglobinuria 
Paroxysmal nocturnal hemoglobinuria 
Pearson syndrome 
PEHO syndrome 
PHACE syndrome 
Phosphoglycerate kinase deficiency 
Plasmablastic lymphoma 
Plasminogen activator inhibitor type 1 deficiency 
Platelet storage pool deficiency 
Plummer Vinson syndrome 
POEMS syndrome 
Poikiloderma with neutropenia 
Polycythemia vera 
Prekallikrein deficiency, congenital 
Primary angiitis of the central nervous system 
Primary central nervous system lymphoma 
Primary familial and congenital polycythemia 
Primary intestinal lymphangiectasia 
Primary release disorder of platelets 
Prolidase deficiency 
Protein C deficiency - Not a rare disease 
Protein S deficiency 
Proteus syndrome 
Prothrombin deficiency 
Pseudo-Von Willebrand disease 
Pseudohyperkalemia Cardiff 
Pseudoxanthoma elasticum 
Pulmonary arterio-veinous fistula 
Pulmonary atresia with intact ventricular septum 
Pulmonary vein stenosis 
Purpura simplex - Not a rare disease 
Pyropoikilocytosis hereditary 
Pyruvate kinase deficiency 
Quebec platelet disorder 
Red cell phospholipid defect with hemolysis 
Refractory cytopenia with unilineage dysplasia 
Revesz syndrome 
Reynolds syndrome 
Rh deficiency syndrome 
Rosai-Dorfman disease 
Rotor syndrome 
Scott syndrome 
Severe congenital neutropenia autosomal dominant 
Severe congenital neutropenia autosomal recessive 3 
Sezary syndrome 
Shwachman-Diamond syndrome 
Sickle beta thalassemia 
Sickle cell - hemoglobin D disease 
Sickle cell anemia 
Sideroblastic anemia - Not a rare disease 
Sideroblastic anemia and mitochondrial myopathy 
Sideroblastic anemia pyridoxine-refractory autosomal recessive 
Sideroblastic anemia pyridoxine-responsive autosomal recessive 
Slow-channel congenital myasthenic syndrome 
Sneddon syndrome 
Stomatocytosis I 
Stomatocytosis II 
Sturge-Weber syndrome 
Supraumbilical midabdominal raphe and facial cavernous hemangiomas 
Supravalvular aortic stenosis 
Susac syndrome 
Swyer syndrome 
Systemic mastocytosis 
T-cell/histiocyte rich large B cell lymphoma 
Takayasu arteritis 
TAR syndrome 
Thiamine responsive megaloblastic anemia syndrome 
Thoracolaryngopelvic dysplasia 
Thrombocytopathy asplenia miosis 
Thrombocytopenia 2 
Thrombocytopenia with elevated serum IgA and renal disease 
Thrombomodulin anomalies, familial 
Thrombotic thrombocytopenic purpura, acquired 
Transient erythroblastopenia of childhood 
Transient myeloproliferative syndrome 
Triosephosphate isomerase deficiency 
Tuberous sclerosis 
Tufted angioma 
Twin to twin transfusion syndrome 
Type 1 plasminogen deficiency 
Unicentric Castleman disease 
Vascular Ehlers-Danlos syndrome 
Vein of Galen aneurysm 
Von Hippel-Lindau disease 
Von Willebrand disease - Not a rare disease 
Warm antibody hemolytic anemia 
White platelet syndrome 
Williams syndrome 
Wiskott Aldrich syndrome 
WT limb blood syndrome 
Wyburn-Mason syndrome 
X-linked sideroblastic anemia 
X-linked thrombocytopenia 
Yellow nail syndrome 

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