Details of Disease

General Information of Disease (ID: DISBEAZY)

Disease Name	Crigler-najjar syndrome type 1
Synonyms	Crigler Najjar syndrome, type 1; Crigler-Najjar syndrome, type I; hereditary unconjugated hyperbilirubinemia type 1; bilirubin-UGT deficiency type 1; bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome, type 1; hyperbilirubinemia, Crigler-Najjar type 1; UGT deficiency type 1
Disease Class	5C58: Inborn porphyrin/heme metabolism error
Definition	Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).
Disease Hierarchy	DISDZ1YS: Crigler-Najjar syndrome DISBEAZY: Crigler-najjar syndrome type 1
ICD Code	ICD-11 ICD-11: 5C58.00
Disease Identifiers	MONDO ID MONDO_0021020 MESH ID D003414 UMLS CUI C0010324 OMIM ID 218800 MedGen ID 41346 Orphanet ID 79234 SNOMED CT ID 8933000

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Preclinical Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
mRNA-3351	DMS8R63	Preclinical	Vaccine	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UGT1A1	OTH1C8OJ	Definitive	Autosomal recessive	[2]
TTC4	OTAPMYXU	Strong	Genetic Variation	[6]
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This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F7	TTF0EGX	Strong	Genetic Variation	[3]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35A2	DT0567K	Strong	Genetic Variation	[4]
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This Disease Is Related to 9 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UGT1A3	DEF2WXN	Limited	Genetic Variation	[5]
UGT1A5	DEPF954	Limited	Genetic Variation	[5]
UGT1A9	DE85D2P	Limited	Genetic Variation	[5]
UGT1A10	DEL5N6Y	moderate	Genetic Variation	[5]
UGT1A4	DELOY3P	moderate	Genetic Variation	[5]
UGT1A6	DESD26P	moderate	Genetic Variation	[5]
UGT1A7	DEZO4N3	moderate	Genetic Variation	[5]
UGT1A8	DE2GB8N	moderate	Genetic Variation	[5]
UGT1A1	DEYGVN4	Definitive	Autosomal recessive	[2]
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⏷ Show the Full List of 9 DME(s)

References

1	Clinical pipeline report, company report or official report of Moderna
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3	Liver after hepatocyte transplantation for liver-based metabolic disorders in children.Cell Transplant. 2008;17(12):1403-14. doi: 10.3727/096368908787648083.
4	Takashi Iyanagi: UGT1 gene complex: from Gunn rat to human.Drug Metab Rev. 2010 Feb;42(1):14-22. doi: 10.3109/03602530903205757.
5	Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.J Gastrointestin Liver Dis. 2015 Dec;24(4):523-6. doi: 10.15403/jgld.2014.1121.244.ugt.
6	Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives.J Gastroenterol Hepatol. 2020 Apr;35(4):530-543. doi: 10.1111/jgh.14853. Epub 2019 Oct 24.