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:69 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), and among its related pathways is Sertoli-Sertoli Cell Junction Dynamics. Related mouse phenotypes are liver/biliary system and renal/urinary system.
Description from OMIM:51 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:
Search GEO for disease gene expression data for Elliptocytosis-2.
Cellular components related to Elliptocytosis-2 according to GeneCards Suite gene sharing:
Biological processes related to Elliptocytosis-2 according to GeneCards Suite gene sharing:
Molecular functions related to Elliptocytosis-2 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet