List of rare blood diseases

List of rare Blood Diseases

• 5q- syndrome
• Aagenaes syndrome
• Abdominal aortic aneurysm
• Abetalipoproteinemia
• Acatalasemia
• Aceruloplasminemia
• 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
• Afibrinogenemia
• 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
• Antiphospholipid syndrome
• Aplasia cutis congenita intestinal lymphangiectasia
• Aplastic anemia
• Arterial calcification of infancy
• Arterial tortuosity syndrome
• Atransferrinemia
• Atypical hemolytic uremic syndrome
• Autoimmune lymphoproliferative syndrome
• Autosomal recessive protein C deficiency
• Bannayan-Riley-Ruvalcaba syndrome
• Behçet disease
• Beta-thalassemia
• 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
• Diamond-Blackfan anemia
• Diamond-Blackfan anemia 2
• Diamond-Blackfan anemia 3
• Dysfibrinogenemia
• 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
• Kaposiform lymphangiomatosis
• 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
• MPI-CDG (CDG-Ib)
• Multicentric Castleman Disease
• Multifocal lymphangioendotheliomatosis with thrombocytopenia
• Multiple myeloma
• Multisystemic smooth muscle dysfunction syndrome
• Myelodysplastic syndromes
• Myelofibrosis
• 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
• Overhydrated hereditary stomatocytosis
• Paris-Trousseau thrombocytopenia
• Parkes Weber syndrome
• Paroxysmal cold hemoglobinuria
• Paroxysmal nocturnal hemoglobinuria
• Pearson syndrome
• PEHO syndrome
• PHACE syndrome
• Pheochromocytoma
• 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
• 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
• Thalassemia
• 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

NIH genetic and rare disease info

• NIH info on List of rare blood diseases

List of rare blood diseases is a rare disease.