Details of Disease

General Information of Disease (ID: DIS0V0LT)

Disease Name Elliptocytosis 2
Synonyms EL2; elliptocytosis, Rhesus-unlinked type; SPTA1 hereditary elliptocytosis; elliptocytosis-2; elliptocytosis 2; elliptocytosis type 2; hereditary elliptocytosis caused by mutation in SPTA1
Definition Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DISA71F4: Hereditary elliptocytosis
DIS0V0LT: Elliptocytosis 2
Disease Identifiers
MONDO ID
MONDO_0007533
MESH ID
C565058
UMLS CUI
C1851741
OMIM ID
130600
MedGen ID
343643

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SPTA1 OT1YMP65 Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.