Details of Disease

General Information of Disease (ID: DISQH167)

Disease Name Primary CD59 deficiency
Synonyms HACD59; hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy; CD59 deficiency; primary CD59 deficiency
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DISSYRHC: Hereditary peripheral neuropathy
DISQH167: Primary CD59 deficiency
Disease Identifiers
MONDO ID
MONDO_0012858
MESH ID
C567355
UMLS CUI
C2676767
OMIM ID
612300
MedGen ID
393582
Orphanet ID
169464

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
CD59 TTBGTEJ Limited Genetic Variation [1]
CD59 TTBGTEJ Strong Autosomal recessive [2]
CD55 TT5Z9WY Definitive Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CD59 OTSUMQDH Strong Autosomal recessive [2]
PIGA OT51UWUR Strong Genetic Variation [3]
PIGM OTY98K40 Strong Genetic Variation [4]
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References

1 Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management.Mol Immunol. 2019 Oct;114:299-311. doi: 10.1016/j.molimm.2019.08.002. Epub 2019 Aug 14.
2 Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene. Eur J Immunol. 1992 Oct;22(10):2669-73. doi: 10.1002/eji.1830221029.
3 CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy. Blood. 2013 Jan 3;121(1):129-35. doi: 10.1182/blood-2012-07-441857. Epub 2012 Nov 13.
4 Heterogeneity in the molecular pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH) syndromes and expansion mechanism of a PNH clone.Int J Hematol. 2006 Aug;84(2):97-103. doi: 10.1532/IJH97.06083.