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HS
MCID: HRD011
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Hereditary Spherocytosis malady |
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Sources: 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. The condition is caused by mutations in any of several genes, including the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant pattern, but may also be inherited in an autosomal recessive pattern. Different types of hereditary spherocytosis exist and are distinguished by their severity and genetic cause. Depending on severity, treatment may involve folic acid replacement, red cell transfusions, splenectomy, and cholecystectomy.30
MalaCards: Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to anemia and iron deficiency anemia. An important gene associated with Hereditary Spherocytosis is SLC4A1 (solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)). The drugs nandrolone and oxymetholone and the compounds phenylhydrazine and nh4cl have been mentioned in the context of this disorder. Affiliated tissues include spleen and skin, and related mouse phenotypes are liver/biliary system and renal/urinary system. Genetics Home Reference: Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.17 Wikipedia: Hereditary spherocytosis is a genetically-transmitted (autosomal dominant) form of spherocytosis, an...44 more... |
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 17Genetics Home Reference, 8DISEASES, 43UMLS, 32Novoseek , 40SNOMED-CT, 24MeSH, 19ICD9CM See all sources |
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for hereditary spherocytosis Drug clinical trials:Search ClinicalTrials for hereditary spherocytosis Search NIH Clinical Center for hereditary spherocytosis Search CenterWatch for hereditary spherocytosis Inferred drug relations via UMLS/NDF-RT:43 28 darbepoetin alfa,recombinant, epoetin alfa,recombinant, nandrolone, nandrolone decanoate, nandrolone phenpropionate, oxymetholone, sodium ascorbate |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to hereditary spherocytosis:22Spleen, Skin
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to hereditary spherocytosis:25
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Sources: 35PubMed See all sources |
Articles related to hereditary spherocytosis:(show top 50) (show all 87)
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Sources: 1BioGPS See all sources |
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Sources: 32Novoseek , 18HMDB, 34PharmGKB, 9DrugBank See all sources |
Compounds related to hereditary spherocytosis according to GeneDecks:(show top 50) (show all 57)
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Sources: 12Gene Ontology See all sources |
Cellular components related to hereditary spherocytosis according to GeneDecks:
Biological processes related to hereditary spherocytosis according to GeneDecks:
Molecular functions related to hereditary spherocytosis according to GeneDecks:
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