Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases
Aliases & Descriptions for Elliptocytosis-2:
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases
UniProtKB/Swiss-Prot:68 Elliptocytosis 2: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
MalaCards based summary: Elliptocytosis-2, also known as elliptocytosis 2, is related to ovalocytosis, hereditary hemolytic and ovalocytosis, southeast asian, and has symptoms including elliptocytosis An important gene associated with Elliptocytosis-2 is SPTA1 (Spectrin Alpha, Erythrocytic 1).
Description from OMIM:50 130600
Diseases in the Elliptocytosis-1 family:
Diseases related to Elliptocytosis-2 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Elliptocytosis-2:
UniProtKB/Swiss-Prot genetic disease variations for Elliptocytosis-2:68 (show all 19)
Clinvar genetic disease variations for Elliptocytosis-2:5 (show all 16)
Search GEO for disease gene expression data for Elliptocytosis-2.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet