List of rare blood diseases
From WikiMD's Food, Medicine & Wellness Encyclopedia
List of rare Blood Diseases[edit | edit source]
- 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[edit source]
List of rare blood diseases is a rare disease.
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Contributors: Prab R. Tumpati, MD