Details of Disease

General Information of Disease (ID: DISN6K2V)

Disease Name Hereditary spherocytosis type 3
Synonyms spherocytosis, type 3; spherocytosis, hereditary, 3; SPTA1 hereditary spherocytosis; HS3; SPH3; hereditary spherocytosis caused by mutation in SPTA1; hereditary spherocytosis 3
Definition Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.
Disease Hierarchy
DISQYJP5: Hereditary spherocytosis
DISN6K2V: Hereditary spherocytosis type 3
Disease Identifiers
MONDO ID
MONDO_0010053
MESH ID
C567489
UMLS CUI
C2678338
OMIM ID
270970
MedGen ID
394798

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 Definitive Autosomal recessive [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.