HE
MCID: HRD012
MIFTS: 51
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Hereditary Elliptocytosis (HE)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Hereditary Elliptocytosis:
Characteristics:Orphanet epidemiological data:58
hereditary elliptocytosis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy; Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Immune diseases Blood diseases
ICD10:
32
33
Orphanet: 58
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NIH Rare Diseases :
52
Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped . Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones , and yellowing of the skin and eyes (jaundice ). Some people with this condition have an enlarged spleen . Hereditary elliptocytosis is caused by a genetic change in either the EPB41 , SPTA1 , or SPTB gene , and is inherited in an autosomal dominant pattern. Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern. Diagnosis of this condition is made by looking at the shape of the red blood cells under a microscope. Treatment is usually not necessary unless severe anemia occurs. In severe cases, surgery to remove the spleen may decrease the rate of red blood cell damage. HE is generally not life-threatening.
MalaCards based summary : Hereditary Elliptocytosis, also known as elliptocytosis, hereditary, is related to pyropoikilocytosis, hereditary and thalassemia. An important gene associated with Hereditary Elliptocytosis is EPB41 (Erythrocyte Membrane Protein Band 4.1), and among its related pathways/superpathways are L1CAM interactions and Miscellaneous transport and binding events. The drugs Iron and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include spleen, eye and skin, and related phenotypes are elliptocytosis and increased red cell osmotic fragility Disease Ontology : 12 A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. KEGG : 36 Hereditary elliptocytosis (HE) is an autosomal dominant hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia caused by fragility of the erythrocyte membrane skeleton due to defects in alpha-spectrin, beta-spectrin, or protein 4.1. Wikipedia : 74 Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an... more... |
Human phenotypes related to Hereditary Elliptocytosis:58 31 (show all 20)
GenomeRNAi Phenotypes related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:26 (show all 21)
MGI Mouse Phenotypes related to Hereditary Elliptocytosis:45
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Drugs for Hereditary Elliptocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 8)
Interventional clinical trials:
Cochrane evidence based reviews: elliptocytosis, hereditary |
Genetic tests related to Hereditary Elliptocytosis:
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MalaCards organs/tissues related to Hereditary Elliptocytosis:40
Spleen,
Eye,
Skin,
Testes,
Heart,
Kidney,
Myeloid
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Articles related to Hereditary Elliptocytosis:(show top 50) (show all 419)
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ClinVar genetic disease variations for Hereditary Elliptocytosis:6
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Search
GEO
for disease gene expression data for Hereditary Elliptocytosis.
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Cellular components related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:(show all 13)
Biological processes related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:
Molecular functions related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:
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