loading...| Preferred Name |
Crigler-Najjar syndrome |
|
| Synonyms |
Bilirubin-UGT deficiency |
|
| Definitions |
A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_205 |
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| alternative_term |
Bilirubin-UGT deficiency Bilirubin uridinediphosphate glucuronosyltransferase deficiency |
|
| definition |
A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205 |
|
| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
MeSH:D003414 UMLS:C5551003 ICD-11:5C58.00 OMIM:218800 MedDRA:10011386 OMIM:606785 ICD-10:E80.5 |
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| label |
Crigler-Najjar syndrome |
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| notation |
ORPHA:205 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_506210 |
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| prefixIRI |
ORDO:Orphanet_205 |
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| prefLabel |
Crigler-Najjar syndrome |
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| present_in |
Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_506210 |
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| subClassOf |