Human Phenotype Ontology 
Grandparent Node:
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Abnormality of blood and blood-forming tissues (HP:0001871)help
Parent Node:
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Abnormal enzyme/coenzyme activity (HP:0012379)help
Parent Node:
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Abnormal erythrocyte morphology (HP:0001877)help
..Starting node
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Abnormal erythrocyte enzyme level (HP:0030272)help
Term ID: 30272
Name: Abnormal erythrocyte enzyme level
Synonym:
Definition: An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.
Comments:
Reference: HP:0030272
Genes and Diseases:
 
       Child Nodes:
........expandReduced red cell pyruvate kinase activity (HP:0025109) help
........expandElevated red cell adenosine deaminase activity (HP:0030270) help
........expandReduced red cell adenosine deaminase activity (HP:0030273) help

 Sister Nodes: 
..expandAbnormal hematocrit (HP:0031850) help
..expandAbnormal hemoglobin (HP:0011902) help
..expandAbnormal mean corpuscular volume (HP:0025065) help
..expandAbnormal number of erythroid precursors (HP:0012131) help
..expandAbnormal reticulocyte morphology (HP:0004312) help
..expandAnemia (HP:0001903) help
..expandAnisocytosis (HP:0011273) help
..expandBlood group antigen abnormality (HP:0010970) help
..expandDysplastic erythropoesis (HP:0012134) help
..expandIncreased hemoglobin oxygen affinity (HP:0004825) help
..expandIncreased red cell osmotic fragility (HP:0005502) help
..expandIncreased red cell osmotic resistance (HP:0005546) help
..expandPoikilocytosis (HP:0004447) help
..expandPolycythemia (HP:0001901) help
..expandReduced erythrocyte 2,3-diphosphoglycerate concentration (HP:0030271) help
..expandRouleaux formation (HP:0031898) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040282 - Frequent62
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040281 - Very frequent351
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0KHK CL E G H37956315ORPHA:2056Essential fructosuriaHP:0040281 - Very frequent49
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040281 - Very frequent54
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040281 - Very frequent48
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040280 - Obligate46
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0PKLR CL E G H53139020ORPHA:766Hemolytic anemia due to red cell pyruvate kinase deficiency51
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells51
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040281 - Very frequent49
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPL15 CL E G H613810306OMIM:615550Diamond-Blackfan anemia 123
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS24 CL E G H622910411OMIM:610629Diamond-Blackfan anemia 322
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS29 CL E G H623510419OMIM:615909Diamond-Blackfan anemia 133
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0030272HP:0030272Abnormal erythrocyte enzyme level0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0030272HP:0030273Reduced red cell adenosine deaminase level1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent22
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent29
HP:0030272HP:0025109Reduced red cell pyruvate kinase level1PKLR CL E G H53139020ORPHA:766Hemolytic anemia due to red cell pyruvate kinase deficiencyHP:0040281 - Very frequent51
HP:0030272HP:0025109Reduced red cell pyruvate kinase level1PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells51
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent22
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent3
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPL15 CL E G H613810306OMIM:615550Diamond-Blackfan anemia 12.3
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent3
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent1
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent11
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent40
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent26
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent5
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent42
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent1
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent22
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS24 CL E G H622910411OMIM:610629Diamond-Blackfan anemia 322
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent20
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent1
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent1
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent3
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS29 CL E G H623510419OMIM:615909Diamond-Blackfan anemia 13.3
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent20
HP:0030272HP:0030270Elevated red cell adenosine deaminase level1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040281 - Very frequent1


Genes (33) :ADA ADA2 ALAD GALT GATA1 KHK PHKA2 PHKG2 PIGA PKLR PRPS1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 TSR2 VPS13A

Diseases (15) :OMIM:102700 ORPHA:124 ORPHA:100924 ORPHA:79239 ORPHA:2056 ORPHA:264580 ORPHA:447 ORPHA:766 OMIM:266200 ORPHA:1187 OMIM:615550 OMIM:105650 OMIM:610629 OMIM:615909 ORPHA:2388
 

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