| Term ID: |
4358 |
| Name: |
Abnormality of superoxide metabolism |
| Synonym: |
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| Definition: |
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| Comments: |
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| Reference: |
HP:0004358 |
| Genes and Diseases: | |
Child Nodes: |
........ Decreased activity of NADPH oxidase (HP:0003206) 
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Sister Nodes: |
..Abnormal blood ion concentration (HP:0003111)
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..Abnormal calcium-phosphate regulating hormone level (HP:0100530)
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..Abnormal cellular physiology (HP:0011017)
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..Abnormal circulating carbohydrate concentration (HP:0011013)
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..Abnormal circulating carboxylic acid concentration (HP:0004354)
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..Abnormal circulating lipid concentration (HP:0003119)
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..Abnormal circulating nitrogen compound concentration (HP:0004364)
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..Abnormal circulating nucleobase concentration (HP:0010932)
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..Abnormal circulating porphyrin concentration (HP:0010472)
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..Abnormal circulating protein concentration (HP:0010876)
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..Abnormal circulating selenium concentration (HP:0031903)
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..Abnormal enzyme/coenzyme activity (HP:0012379)
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..Abnormal erythrocyte sedimentation rate (HP:0025021)
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..Abnormal homeostasis (HP:0012337)
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..Abnormal sweat homeostasis (HP:0040127)
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..Abnormality of acid-base homeostasis (HP:0004360)
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..Abnormality of fluid regulation (HP:0011032)
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..Abnormality of Krebs cycle metabolism (HP:0000816)
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..Abnormality of temperature regulation (HP:0004370)
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..Abnormality of urine homeostasis (HP:0003110)
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..Abnormality of vitamin metabolism (HP:0100508)
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..Amyloidosis (HP:0011034)
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..Bloodstream infectious agent (HP:0031863)
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..Food intolerance (HP:0012537)
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..Gangrene (HP:0100758)
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..Hyperbilirubinemia (HP:0002904)
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..Increased level of propylene glycol in blood (HP:0410069)
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..Ketosis (HP:0001946)
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..Molybdenum cofactor deficiency (HP:0003570)
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..obsolete Abnormality of glycoprotein metabolism (HP:0004367)
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..Presence of xenobiotic (HP:0031838)
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..Reduced 5-oxoprolinase level (HP:0040142)
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..Reduced acetaldehyde dehydrogenase level (HP:0003533)
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..Reduced glutathione synthetase level (HP:0003343)
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| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0004358 | HP:0004358 | Abnormality of superoxide metabolism | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | | | 27 | | | | HP:0004358 | HP:0004358 | Abnormality of superoxide metabolism | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | | | HP:0004358 | HP:0004358 | Abnormality of superoxide metabolism | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | | | | 14 | | | | HP:0004358 | HP:0004358 | Abnormality of superoxide metabolism | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | | | | 13 | | | | HP:0004358 | HP:0004358 | Abnormality of superoxide metabolism | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | | | | 67 | | | | HP:0004358 | HP:0003206 | Decreased activity of NADPH oxidase | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | | | HP:0004358 | HP:0003206 | Decreased activity of NADPH oxidase | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | | | HP:0004358 | HP:0003206 | Decreased activity of NADPH oxidase | 1 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | | | HP:0004358 | HP:0003206 | Decreased activity of NADPH oxidase | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | | | HP:0004358 | HP:0003206 | Decreased activity of NADPH oxidase | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
Genes (5) :CYBA CYBB NADK2 NCF1 NCF2
Diseases (5) :OMIM:233690 OMIM:306400 ORPHA:431361 OMIM:233700 OMIM:233710 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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