Details of Disease

General Information of Disease (ID: DIS34V1Z)

Disease Name Hereditary spherocytosis type 1
Synonyms spherocytosis, hereditary, 1; spherocytosis, type 1; Sph; SPH1; hereditary spherocytosis caused by mutation in ANK1; ANK1 hereditary spherocytosis; HS1; hereditary spherocytosis 1
Definition Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.
Disease Hierarchy
DISQYJP5: Hereditary spherocytosis
DIS34V1Z: Hereditary spherocytosis type 1
Disease Identifiers
MONDO ID
MONDO_0008447
MESH ID
C567159
UMLS CUI
C2674218
OMIM ID
182900
MedGen ID
382302

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ANK1 TTKFPMH Strong Autosomal dominant [1]
ANK1 TTKFPMH Strong Biomarker [2]
GRIK1 TT0MYE2 Strong Altered Expression [3]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANK1 OTU79URK Strong Autosomal dominant [1]
DUSP22 OTEZ3U85 Strong Altered Expression [4]
IVL OT4VPNGY Strong Altered Expression [5]
KRT1 OTIOJWA4 Strong Altered Expression [5]
SPTB OT1Q9ABM Strong Genetic Variation [6]
ADD2 OTRCPCD2 Definitive Biomarker [7]
EPB42 OTKJND3Z Definitive Biomarker [8]
SPTA1 OT1YMP65 Definitive Biomarker [9]
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⏷ Show the Full List of 8 DOT(s)

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.
2 A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis.Exp Hematol. 2011 Mar;39(3):305-20, 320.e1-2. doi: 10.1016/j.exphem.2010.12.009. Epub 2010 Dec 28.
3 Altered hippocampal kainate-receptor mRNA levels in temporal lobe epilepsy patients.Neurobiol Dis. 1998 Sep;5(3):151-76. doi: 10.1006/nbdi.1998.0200.
4 DUSP22 promotes senescence of HS-1 skin cancer cells through triggering MAPK signaling pathway.Eur Rev Med Pharmacol Sci. 2018 Nov;22(22):7819-7825. doi: 10.26355/eurrev_201811_16406.
5 Investigation of Immune-Regulatory Effects of Mageumsan Hot Spring via Protein Microarray In Vitro.Ann Dermatol. 2018 Jun;30(3):322-330. doi: 10.5021/ad.2018.30.3.322. Epub 2018 Apr 23.
6 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.
7 Targeted deletion of the gamma-adducin gene (Add3) in mice reveals differences in alpha-adducin interactions in erythroid and nonerythroid cells.Am J Hematol. 2009 Jun;84(6):354-61. doi: 10.1002/ajh.21427.
8 Mild spherocytosis and altered red cell ion transport in protein 4. 2-null mice.J Clin Invest. 1999 Jun;103(11):1527-37. doi: 10.1172/JCI5766.
9 Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes.Cell. 1984 Jul;37(3):721-9. doi: 10.1016/0092-8674(84)90408-2.