Details of Disease

General Information of Disease (ID: DISCYPC8)

Disease Name Hereditary spherocytosis type 2
Synonyms
spherocytosis, hereditary, 2; spherocytosis, type 2; hereditary spherocytosis type 2; hereditary spherocytosis caused by mutation in SPTB; hereditary spherocytosis 2; SPTB hereditary spherocytosis; SPH2; HS2
Definition Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.
Disease Hierarchy
DISQYJP5: Hereditary spherocytosis
DISCYPC8: Hereditary spherocytosis type 2
Disease Identifiers
MONDO ID
MONDO_0000913
UMLS CUI
C2674219
OMIM ID
616649
MedGen ID
436112

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 dominant [1]
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References

1 Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. Clin Genet. 2016 Jul;90(1):69-78. doi: 10.1111/cge.12749. Epub 2016 Mar 15.