Details of Disease

General Information of Disease (ID: DISPYJ1G)

Disease Name Hereditary spherocytosis type 4
Synonyms spherocytosis, type 4; spherocytosis, hereditary, 4; hereditary spherocytosis caused by mutation in SLC4A1; SLC4A1 hereditary spherocytosis; hereditary spherocytosis 4; SPH4; HS4
Definition Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.
Disease Hierarchy
DISQYJP5: Hereditary spherocytosis
DISPYJ1G: Hereditary spherocytosis type 4
Disease Identifiers
MONDO ID
MONDO_0012981
MESH ID
C567208
UMLS CUI
C2675212
OMIM ID
612653
MedGen ID
436375

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC4A1 DTB0Q3P Disputed Genetic Variation [1]
SLC4A1 DTB0Q3P Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC4A1 OT3EFUK8 Strong Autosomal dominant [2]
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References

1 Band 3Tamba: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane.Eur J Haematol. 2005 May;74(5):396-401. doi: 10.1111/j.1600-0609.2004.00405.x.
2 Hereditary spherocytosis. Lancet. 2008 Oct 18;372(9647):1411-26. doi: 10.1016/S0140-6736(08)61588-3.