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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Blood Diseases

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* 5q- syndrome
* Aagenaes syndrome
* Aarskog syndrome
* Abdominal aortic aneurysm
* Abetalipoproteinemia
* Absent T lymphocytes
* Acanthocytosis
* Acatalasemia
* Aceruloplasminemia
* Acquired agranulocytosis
* Acquired hemophilia
* Acquired hypoprothrombinemia
* Acquired pure red cell aplasia
* Acquired Von Willebrand syndrome
* Acute promyelocytic leukemia
* Adrenocortical carcinoma
* Afibrinogenemia
* ALK+ histiocytosis
* Alpha-thalassemia x-linked intellectual disability syndrome
* Anemia due to Adenosine triphosphatase deficiency
* 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
* Atransferrinemia
* Atypical hemolytic uremic syndrome
* Autoimmune lymphoproliferative syndrome
* Behcet's disease
* Beta-thalassemia
* Bloom syndrome
* Blue rubber bleb nevus syndrome
* Buerger disease
* Burkitt lymphoma
* Campomelia Cumming type
* Cerebral cavernous malformation
* Chediak-Higashi syndrome
* Chronic myeloid leukemia
* Chylous ascites
* CLOVES syndrome
* Cold agglutinin disease
* Congenital amegakaryocytic thrombocytopenia
* Congenital disorder of glycosylation type 1B
* Congenital dyserythropoietic anemia type 1
* Congenital dyserythropoietic anemia type 2
* Congenital myasthenic syndrome with episodic apnea
* Congenital porphyria
* Congenital pulmonary lymphangiectasia
* Cutaneous necrotizing vasculitis
* Cutis laxa, autosomal recessive type 1
* Cutis marmorata telangiectatica congenita
* Cyclic neutropenia
* Cyclic thrombocytopenia
* Cystic medial necrosis of aorta
* Dahlberg Borer Newcomer syndrome
* Dehydrated hereditary stomatocytosis
* Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
* Diamond-Blackfan anemia
* Diamond-Blackfan anemia 2
* Diamond-Blackfan anemia 3
* Dysfibrinogenemia
* Dyskeratosis congenita
* Dyskeratosis congenita autosomal dominant
* Ehlers-Danlos syndrome vascular type
* Erythema elevatum diutinum
* Essential thrombocythemia
* Evans syndrome
* Fabry disease
* Factor V deficiency
*   Factor V Leiden thrombophilia
* Factor VII deficiency
* Factor X deficiency
* Factor XII deficiency
* Factor XIII deficiency
* Familial platelet disorder with associated myeloid malignancy
* Familial thoracic aortic aneurysm and dissection
* Fanconi anemia
* Fetal and neonatal alloimmune thrombocytopenia
*   Fibromuscular dysplasia
* Follicular lymphoma
* Giant cell arteritis
* Giant platelet syndrome
* Glanzmann thrombasthenia
* Glucocorticoid-remediable aldosteronism
* Glutamate formiminotransferase deficiency
* Glycogen storage disease type 12
* Glycogen storage disease type 7
* Gorham's disease
* Granulomatosis with polyangiitis (Wegener's)
* Gray platelet syndrome
* Heinz body anemias
*   Hemangioma
* Hemangioma thrombocytopenia syndrome
*   Hemochromatosis
* Hemochromatosis type 2
* Hemochromatosis type 3
* Hemochromatosis type 4
* Hemoglobin C disease
* Hemoglobin E disease
* Hemoglobin SC disease
* Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities
* Hemolytic uremic syndrome
* Hemophilia A, acquired
* Hemophilia A, congenital
* Hemorrhagic shock and encephalopathy syndrome
* Hennekam syndrome
* Henoch-Schonlein purpura
* Heparin-induced thrombocytopenia
* Hereditary elliptocytosis
* Hereditary hemorrhagic telangiectasia
* Hereditary hemorrhagic telangiectasia type 4
* Hereditary lymphedema type II
* Hereditary paraganglioma-pheochromocytoma
* Hereditary spherocytosis
* Hermansky Pudlak syndrome 2
* Histiocytosis with joint contractures and sensorineural deafness
* Hoyeraal Hreidarsson syndrome
* Hypereosinophilic syndrome
*   Idiopathic neutropenia
* Idiopathic thrombocytopenic purpura
* Imerslund-Grasbeck syndrome
*   Inherited bone marrow failure syndromes
* Inherited hypoprothrombinemia
* Internal carotid agenesis
* Intrinsic factor deficiency
* Iron-refractory iron deficiency anemia
* Juvenile myelomonocytic leukemia
* Kanzaki disease
* Kawasaki syndrome
* Klippel-Trenaunay syndrome
* Langerhans cell sarcoma
* Large granular lymphocyte leukemia
* Lesch Nyhan syndrome
* Liddle syndrome
* Lissencephaly 2
* Loeys-Dietz syndrome
* Lymphedema-distichiasis syndrome
* Macrocephaly-capillary malformation
* Maffucci syndrome
* Majeed syndrome
* Mantle cell lymphoma
* McLeod neuroacanthocytosis syndrome
* Methylcobalamin deficiency cbl G type
* Methylmalonic aciduria with homocystinuria cbl f
* Microscopic polyangiitis
* Multifocal lymphangioendotheliomatosis with thrombocytopenia
* Multiple myeloma
* Myelodysplastic syndromes
* Myelofibrosis
* MYH9 related thrombocytopenia
* Neonatal hemochromatosis
* Neutropenia chronic familial
* Neutropenia lethal congenital with eosinophilia
* Nevo syndrome
* Non-involuting congenital hemangioma
* Nonspherocytic hemolytic anemia due to hexokinase deficiency
* Noonan syndrome
* Noonan syndrome 1
* Orotic aciduria type 1
* Paris-Trousseau thrombocytopenia
* 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 disorder, familial, with associated myeloid malignancy
* Platelet storage pool deficiency
* POEMS syndrome
* Poikiloderma with neutropenia
* Polycythemia vera
* Preeyasombat Varavithya syndrome
* Primary angiitis of the central nervous system
* Primary release disorder of platelets
* Proconvertin deficiency, congenital
* Prolidase deficiency
*   Protein C deficiency
* Protein S deficiency
* Proteus syndrome
* Pseudo-Von Willebrand disease
* Pseudohyperkalemia Cardiff
* Pseudoxanthoma elasticum
* Pulmonary arterio-veinous fistula
*   Purpura simplex
* Pyropoikilocytosis hereditary
* Pyruvate kinase deficiency
* Quebec platelet disorder
* Red cell phospholipid defect with hemolysis
* Refractory cytopenia with unilineage dysplasia
* Reynolds 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 cell anemia
*   Sideroblastic anemia
* 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
* Susac syndrome
* Swyer syndrome
* Systemic mastocytosis
* 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
* Thrombotic thrombocytopenic purpura, congenital
* Transient erythroblastopenia of childhood
* Triose phosphate-isomerase deficiency
* Tuberous sclerosis
* Tufted angioma
* Twin twin transfusion syndrome
* Type 1 plasminogen deficiency
* Vein of Galen aneurysm
* Von Hippel-Lindau disease
*   Von Willebrand disease
* Warm antibody hemolytic anemia
* White platelet syndrome
* Williams syndrome
* Wiskott Aldrich syndrome
* WT limb blood syndrome
* X-linked sideroblastic anemia
* Yellow nail syndrome