Tunnus
Abnormal circulating enzyme concentration or activity
Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.
Kokkuvõte
- Kehasüsteem
- Laboratory abnormality
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
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Telli oma Genome Test66 geeni on seotud tunnusega Abnormal circulating enzyme concentration or activity
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal circulating enzyme concentration or activity. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALG12ALG12 alpha-1,6-mannosyltransferase | Alati | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Alati | Esineb 1 haiguses |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Alati | Esineb 1 haiguses |
| KHKketohexokinase | Alati | Esineb 1 haiguses |
| MPImannose phosphate isomerase | Alati | Esineb 1 haiguses |
| AKR1D1aldo-keto reductase family 1 member D1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALADaminolevulinate dehydratase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| AMACRalpha-methylacyl-CoA racemase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANO10anoctamin 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| APRTadenine phosphoribosyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARSLarylsulfatase L | Väga sageli (80–99%) | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| B4GALT1beta-1,4-galactosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BCHEbutyrylcholinesterase | Väga sageli (80–99%) | Esineb 1 haiguses |
| CA2carbonic anhydrase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CPceruloplasmin | Väga sageli (80–99%) | Esineb 1 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DLATdihydrolipoamide S-acetyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| DMGDHdimethylglycine dehydrogenase | Väga sageli (80–99%) | Esineb 1 haiguses |
| DOLKdolichol kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| FBP1fructose-bisphosphatase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FTCDformimidoyltransferase cyclodeaminase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GAAalpha glucosidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Väga sageli (80–99%) | Esineb 2 haiguses |
| GALK1galactokinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GALMgalactose mutarotase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GALTgalactose-1-phosphate uridylyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GCDHglutaryl-CoA dehydrogenase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GLYCTKglycerate kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HMBShydroxymethylbilane synthase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MPDU1mannose-P-dolichol utilization defect 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MTHFRmethylenetetrahydrofolate reductase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PHKBphosphorylase kinase regulatory subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 26 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PPOXprotoporphyrinogen oxidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PSAPprosaposin | Väga sageli (80–99%) | Esineb 1 haiguses |
| SECISBP2SECIS binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLCO1B1solute carrier organic anion transporter family member 1B1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLCO1B3solute carrier organic anion transporter family member 1B3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| TREHtrehalase | Väga sageli (80–99%) | Esineb 1 haiguses |
| URODuroporphyrinogen decarboxylase | Väga sageli (80–99%) | Esineb 1 haiguses |
| AASSaminoadipate-semialdehyde synthase | Sageli (30–79%) | Esineb 1 haiguses |
| ASPAaspartoacylase | Sageli (30–79%) | Esineb 1 haiguses |
| CASRcalcium sensing receptor | Sageli (30–79%) | Esineb 1 haiguses |
| COL13A1collagen type XIII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Sageli (30–79%) | Esineb 1 haiguses |
| CPA1carboxypeptidase A1 | Sageli (30–79%) | Esineb 1 haiguses |
| CTRCchymotrypsin C | Sageli (30–79%) | Esineb 1 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PRSS1serine protease 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PRSS2serine protease 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Sageli (30–79%) | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| DYMdymeclin | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
- Abnormal circulating lactate dehydrogenase concentration21 geeni
- Abnormal circulating aldolase concentration15 geeni
- Abnormality of Krebs cycle metabolism12 geeni
- Decreased methionine synthase activity7 geeni
- Elevated total serum tryptase6 geeni
- Decreased beta-glucocerebrosidase level3 geeni
- Molybdenum cofactor deficiency3 geeni
- Propionyl-CoA carboxylase deficiency3 geeni
- Reduced level of N-acetylglucosaminyltransferase II3 geeni
- Sulfite oxidase deficiency3 geeni
- Aldehyde oxidase deficiency2 geeni
- Decreased 3-hydroxyacyl-CoA dehydrogenase level2 geeni
- Decreased small intestinal mucosa lactase level2 geeni
- Glyoxalase deficiency2 geeni
- Low cholesterol esterification rate2 geeni
- Reduced dihydropyrimidine dehydrogenase level2 geeni
- Reduced peroxisomal glutaryl-CoA oxidase activity2 geeni
- Reduced xanthine dehydrogenase level2 geeni
- Abnormality of alkaline phosphatase level1 geen
- Decreased acid ceramidase activity1 geen
- Decreased acid sphingomyelinase activity1 geen
- Decreased alpha-galactosidase A activity1 geen
- Decreased circulating carboxypeptidase N activity1 geen
- Decreased glucosephosphate isomerase level1 geen
- Decreased lecithin cholesterol acyl transferase level1 geen
- Decreased mucosal sucrase-isomaltase activity1 geen
- Decreased Succinyl-CoA 3-ketoacid CoA transferase activity1 geen
- Diminished circulating hyaluronidase activity1 geen
- Elevated circulating beta-glucuronidase activity1 geen
- Elevated circulating chitotriosidase activity1 geen
- Platelet-activating factor acetylhydrolase deficiency1 geen
- Reduced 3-phosphoglycerate dehydrogenase activity1 geen
- Reduced acetaldehyde dehydrogenase level1 geen
- Reduced beta-hexosaminidase B activity1 geen
- Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity1 geen
- Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity1 geen
- Reduced circulating 5-oxoprolinase activity1 geen
- Reduced circulating 6-pyruvoyltetrahydropterin synthase activity1 geen
- Reduced circulating acyl-CoA oxidase activity1 geen
- Reduced circulating adenosine deaminase-2 activity1 geen
- Reduced circulating aromatic L-amino acid decarboxylase activity1 geen
- Reduced circulating catalase activity1 geen
- Reduced circulating dopamine beta-hydroxylase activity1 geen
- Reduced circulating pyrimidine 5-prime-nucleotidase activity1 geen
- Reduced circulating xanthine oxidase activity1 geen
- Reduced glutathione synthetase level1 geen
- Reduced lysosomal acid lipase activity1 geen
- Reduced orotidine 5-prime phosphate decarboxylase level1 geen
- Reduced phenylalanine hydroxylase level1 geen
- Reduced uroporphyrinogen decarboxylase activity1 geen
- 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
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast