Details of Disease

General Information of Disease (ID: DISYW4P6)

Disease Name Elliptocytosis 1
Synonyms
EL1; 4.1- trait; 4.1-minus trait; Protein 4.1 of erythrocyte Membrane, defect of; elliptocytosis, Rhesus-linked type; hereditary elliptocytosis caused by mutation in EPB41; elliptocytosis-1; EPB41 hereditary elliptocytosis; elliptocytosis type 1; elliptocytosis 1
Definition Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DISA71F4: Hereditary elliptocytosis
DISYW4P6: Elliptocytosis 1
Disease Identifiers
MONDO ID
MONDO_0012731
MESH ID
C567520
UMLS CUI
C2678497
OMIM ID
611804
MedGen ID
394841

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
EPB41 OTGCFPV8 Strong Autosomal dominant [1]
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References

1 Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. J Clin Invest. 1992 Nov;90(5):1713-7. doi: 10.1172/JCI116044.