Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal enzyme/coenzyme activity (HP:0012379)

Grandparent Node:
Abnormal erythrocyte morphology (HP:0001877)

Parent Node:
Abnormal erythrocyte enzyme level (HP:0030272)

..Starting node
..Reduced red cell pyruvate kinase level (HP:0025109)

Term ID:

25109

Name:

Reduced red cell pyruvate kinase level

Synonym:

Reduced erythrocyte pyruvate kinase activity

Definition:

Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.

Comments:

Reference:

HP:0025109

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated red cell adenosine deaminase level (HP:0030270)

Reduced red cell adenosine deaminase level (HP:0030273)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025109	HP:0025109	Reduced red cell pyruvate kinase level	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040281 - Very frequent	51
HP:0025109	HP:0025109	Reduced red cell pyruvate kinase level	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51

Genes (1) :PKLR

Diseases (2) :ORPHA:766 OMIM:266200

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.