Crigler-Najjar Syndrome, Type Ii (CN2)

Alias:
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2
Bilirubin-Ugt Deficiency Type 2
Crigler-Najjar Syndrome Type 2
Hyperbilirubinemia, Crigler-Najjar Type Ii
Crigler-Najjar Syndrome Type Ii
Crigler Najjar Syndrome, Type 2
Crigler-Najjar Syndrome 2
Hblrcn2
Cn-Ii
Cn2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Crigler-Najjar Syndrome, Type Ii, also known as bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2, is related to cardiomyopathy, dilated, with hypergonadotropic hypogonadism and cholestasis, benign recurrent intrahepatic, 1, and has symptoms including icterus An important gene associated with Crigler-Najjar Syndrome, Type Ii is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include liver and skin, and related phenotypes are prolonged neonatal jaundice and neonatal hyperbilirubinemia

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
9
10
47

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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