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Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity

MedGen UID:
1053266
•Concept ID:
CN377387
•
Finding
HPO: HP:6000555

Definition

Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased erythrocyte fructose-1,6-bisphosphate aldolase activity

Conditions with this feature

HNSHA due to aldolase A deficiency
MedGen UID:
82895
•Concept ID:
C0272066
•
Disease or Syndrome
Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987).
See: Condition Record
HNSHA due to aldolase A deficiency

Recent clinical studies

Etiology

Decrease of aldolase and pyruvate kinase activity in erythrocytes of individuals with male hypogonadism as an expression of lack of androgen influence on the bone marrow.
Medras M, Checińska E, Silber-Kasprzak D, Gwóźdź K
Andrologia 1983 Jan-Feb;15(1):44-9. doi: 10.1111/j.1439-0272.1983.tb00113.x. PMID: 6837952

Prognosis

EPB41 suppresses the Wnt/β-catenin signaling in non-small cell lung cancer by sponging ALDOC.
Yuan J, Xing H, Li Y, Song Y, Zhang N, Xie M, Liu J, Xu Y, Shen Y, Wang B, Zhang L, Yang M
Cancer Lett 2021 Feb 28;499:255-264. Epub 2020 Nov 24 doi: 10.1016/j.canlet.2020.11.024. PMID: 33242559
Decrease of aldolase and pyruvate kinase activity in erythrocytes of individuals with male hypogonadism as an expression of lack of androgen influence on the bone marrow.
Medras M, Checińska E, Silber-Kasprzak D, Gwóźdź K
Andrologia 1983 Jan-Feb;15(1):44-9. doi: 10.1111/j.1439-0272.1983.tb00113.x. PMID: 6837952

Clinical prediction guides

Decrease of aldolase and pyruvate kinase activity in erythrocytes of individuals with male hypogonadism as an expression of lack of androgen influence on the bone marrow.
Medras M, Checińska E, Silber-Kasprzak D, Gwóźdź K
Andrologia 1983 Jan-Feb;15(1):44-9. doi: 10.1111/j.1439-0272.1983.tb00113.x. PMID: 6837952

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