Details of Disease

General Information of Disease (ID: DISEJNS0)

Disease Name Congenital nonspherocytic hemolytic anemia
Synonyms hereditary nonspherocytic hemolytic anaemia; HNSHA; hereditary nonspherocytic hemolytic anemia
Definition
Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DISGK35P: Inherited hemoglobinopathy
DISTW0J6: Congenital anemia
DISEJNS0: Congenital nonspherocytic hemolytic anemia
Disease Identifiers
MONDO ID
MONDO_0006506
MESH ID
D000746
UMLS CUI
C0002882
MedGen ID
284
SNOMED CT ID
301317008

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
PKLR TT31N4S Limited Genetic Variation [1]
G6PD TTKN8W0 Disputed Genetic Variation [2]
GPI TT19JIZ Strong Biomarker [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NT5C3A OT67KZJA Strong Biomarker [4]
TPI1 OT14KP4B Strong Biomarker [5]
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References

1 Mutations in pyruvate kinase.Hum Mutat. 1996;7(1):1-6. doi: 10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H.
2 Biochemical Analysis of Two Single Mutants that Give Rise to a Polymorphic G6PD A-Double Mutant.Int J Mol Sci. 2017 Oct 26;18(11):2244. doi: 10.3390/ijms18112244.
3 Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.Indian J Pediatr. 2019 Aug;86(8):692-699. doi: 10.1007/s12098-019-02928-1. Epub 2019 Apr 27.
4 Structure of pyrimidine 5'-nucleotidase type 1. Insight into mechanism of action and inhibition during lead poisoning.J Biol Chem. 2006 Jul 21;281(29):20521-9. doi: 10.1074/jbc.M602000200. Epub 2006 May 3.
5 Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.Am J Hum Genet. 1993 Jun;52(6):1260-9.