Egenskap
Abnormal circulating enzyme concentration or activity
Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.
Sammendrag
- Kroppssystem
- Laboratory abnormality
ReferansegenomGRCh38hg38
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Få mitt Genome Test66 gener knyttet til Abnormal circulating enzyme concentration or activity
Endringer i disse genene forårsaker sjeldne tilstander der Abnormal circulating enzyme concentration or activity forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALG12ALG12 alpha-1,6-mannosyltransferase | Alltid | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Alltid | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Alltid | I 1 tilstand |
| KHKketohexokinase | Alltid | I 1 tilstand |
| MPImannose phosphate isomerase | Alltid | I 1 tilstand |
| AKR1D1aldo-keto reductase family 1 member D1 | Svært ofte (80–99 %) | I 1 tilstand |
| ALADaminolevulinate dehydratase | Svært ofte (80–99 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Svært ofte (80–99 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Svært ofte (80–99 %) | I 1 tilstand |
| ANO10anoctamin 10 | Svært ofte (80–99 %) | I 1 tilstand |
| APRTadenine phosphoribosyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| ARSLarylsulfatase L | Svært ofte (80–99 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| B4GALT1beta-1,4-galactosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BCHEbutyrylcholinesterase | Svært ofte (80–99 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CPceruloplasmin | Svært ofte (80–99 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| DMGDHdimethylglycine dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| DOLKdolichol kinase | Svært ofte (80–99 %) | I 1 tilstand |
| FBP1fructose-bisphosphatase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FTCDformimidoyltransferase cyclodeaminase | Svært ofte (80–99 %) | I 1 tilstand |
| GAAalpha glucosidase | Svært ofte (80–99 %) | I 1 tilstand |
| GALCgalactosylceramidase | Svært ofte (80–99 %) | I 2 tilstander |
| GALK1galactokinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GALMgalactose mutarotase | Svært ofte (80–99 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Svært ofte (80–99 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Svært ofte (80–99 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Svært ofte (80–99 %) | I 2 tilstander |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Svært ofte (80–99 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Svært ofte (80–99 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PHKBphosphorylase kinase regulatory subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
Vis 26 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Svært ofte (80–99 %) | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Svært ofte (80–99 %) | I 1 tilstand |
| PSAPprosaposin | Svært ofte (80–99 %) | I 1 tilstand |
| SECISBP2SECIS binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| SLCO1B1solute carrier organic anion transporter family member 1B1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLCO1B3solute carrier organic anion transporter family member 1B3 | Svært ofte (80–99 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| TREHtrehalase | Svært ofte (80–99 %) | I 1 tilstand |
| URODuroporphyrinogen decarboxylase | Svært ofte (80–99 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Ofte (30–79 %) | I 1 tilstand |
| ASPAaspartoacylase | Ofte (30–79 %) | I 1 tilstand |
| CASRcalcium sensing receptor | Ofte (30–79 %) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ofte (30–79 %) | I 1 tilstand |
| CPA1carboxypeptidase A1 | Ofte (30–79 %) | I 1 tilstand |
| CTRCchymotrypsin C | Ofte (30–79 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ofte (30–79 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| PRSS1serine protease 1 | Ofte (30–79 %) | I 1 tilstand |
| PRSS2serine protease 2 | Ofte (30–79 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Ofte (30–79 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| DYMdymeclin | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
- Abnormal circulating lactate dehydrogenase concentration21 gener
- Abnormal circulating aldolase concentration15 gener
- Abnormality of Krebs cycle metabolism12 gener
- Decreased methionine synthase activity7 gener
- Elevated total serum tryptase6 gener
- Decreased beta-glucocerebrosidase level3 gener
- Molybdenum cofactor deficiency3 gener
- Propionyl-CoA carboxylase deficiency3 gener
- Reduced level of N-acetylglucosaminyltransferase II3 gener
- Sulfite oxidase deficiency3 gener
- Aldehyde oxidase deficiency2 gener
- Decreased 3-hydroxyacyl-CoA dehydrogenase level2 gener
- Decreased small intestinal mucosa lactase level2 gener
- Glyoxalase deficiency2 gener
- Low cholesterol esterification rate2 gener
- Reduced dihydropyrimidine dehydrogenase level2 gener
- Reduced peroxisomal glutaryl-CoA oxidase activity2 gener
- Reduced xanthine dehydrogenase level2 gener
- Abnormality of alkaline phosphatase level1 gen
- Decreased acid ceramidase activity1 gen
- Decreased acid sphingomyelinase activity1 gen
- Decreased alpha-galactosidase A activity1 gen
- Decreased circulating carboxypeptidase N activity1 gen
- Decreased glucosephosphate isomerase level1 gen
- Decreased lecithin cholesterol acyl transferase level1 gen
- Decreased mucosal sucrase-isomaltase activity1 gen
- Decreased Succinyl-CoA 3-ketoacid CoA transferase activity1 gen
- Diminished circulating hyaluronidase activity1 gen
- Elevated circulating beta-glucuronidase activity1 gen
- Elevated circulating chitotriosidase activity1 gen
- Platelet-activating factor acetylhydrolase deficiency1 gen
- Reduced 3-phosphoglycerate dehydrogenase activity1 gen
- Reduced acetaldehyde dehydrogenase level1 gen
- Reduced beta-hexosaminidase B activity1 gen
- Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity1 gen
- Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity1 gen
- Reduced circulating 5-oxoprolinase activity1 gen
- Reduced circulating 6-pyruvoyltetrahydropterin synthase activity1 gen
- Reduced circulating acyl-CoA oxidase activity1 gen
- Reduced circulating adenosine deaminase-2 activity1 gen
- Reduced circulating aromatic L-amino acid decarboxylase activity1 gen
- Reduced circulating catalase activity1 gen
- Reduced circulating dopamine beta-hydroxylase activity1 gen
- Reduced circulating pyrimidine 5-prime-nucleotidase activity1 gen
- Reduced circulating xanthine oxidase activity1 gen
- Reduced glutathione synthetase level1 gen
- Reduced lysosomal acid lipase activity1 gen
- Reduced orotidine 5-prime phosphate decarboxylase level1 gen
- Reduced phenylalanine hydroxylase level1 gen
- Reduced uroporphyrinogen decarboxylase activity1 gen
- Abnormal circulating alpha mannosidase activity
- Abnormal circulating alpha-L-fucosidase activity
- Abnormal circulating beta-mannosidase activity
- Abnormal circulating biotinidase concentration
- Abnormal circulating hepatic transaminase concentration
- Abnormal circulating lipoprotein lipase concentration
- Abnormal gamma-glutamyltransferase level
- Abnormal glycosidase enzyme activity
- Abnormal iduronate sulfatase concentration
- Abnormal phosphoribosylpyrophosphate synthetase level
- Abnormality of superoxide metabolism
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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