Details of Disease

General Information of Disease (ID: DIS3GSDJ)

Disease Name Anemia, nonspherocytic hemolytic
Disease Hierarchy
DISEJNS0: Congenital nonspherocytic hemolytic anemia
DIS3GSDJ: Anemia, nonspherocytic hemolytic
Disease Identifiers
MONDO ID
MONDO_0000105
UMLS CUI
C4025735
MedGen ID
871250
HPO ID
HP:0001930

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
G6PD TTKN8W0 Limited Biomarker [1]
GPI TT19JIZ Strong Genetic Variation [2]
PKLR TT31N4S Strong Genetic Variation [3]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
HK1 DEDMAGE Strong Biomarker [4]
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References

1 Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan.Int J Mol Sci. 2016 May 21;17(5):787. doi: 10.3390/ijms17050787.
2 Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant.Clin Chim Acta. 2017 May;468:81-84. doi: 10.1016/j.cca.2017.02.012. Epub 2017 Feb 20.
3 Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.Pediatr Blood Cancer. 2016 May;63(5):914-6. doi: 10.1002/pbc.25878. Epub 2016 Jan 5.
4 Hexokinase mutations that produce nonspherocytic hemolytic anemia.Blood Cells Mol Dis. 1995;21(1):2-8. doi: 10.1006/bcmd.1995.0002.