Details of Disease

General Information of Disease (ID: DISSM670)

Disease Name Elliptocytosis 3
Synonyms EL3; anemia, perinatal hemolytic, fatal or near-fatal; anemia, neonatal hemolytic, fatal or near-fatal; elliptocytosis-3; elliptocytosis 3
Disease Hierarchy
DISA71F4: Hereditary elliptocytosis
DISSM670: Elliptocytosis 3
Disease Identifiers
MONDO ID
MONDO_0054780
UMLS CUI
C1866810
OMIM ID
617948
MedGen ID
357139

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
SPTB OT1Q9ABM Strong Autosomal recessive [1]
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References

1 An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216). Blood. 1991 Jul 15;78(2):517-23.