CN1
MCID: CRG003
MIFTS: 63
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Crigler-Najjar Syndrome, Type I (CN1)
Categories:
Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Crigler-Najjar Syndrome, Type I:
Characteristics:Orphanet epidemiological data:58
crigler-najjar syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;
crigler-najjar syndrome type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; OMIM:56
Miscellaneous:
very rare death in infancy secondary to kernicterus no response to phenobarbital
Inheritance:
autosomal recessive HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Liver diseases Neuronal diseases Blood diseases
ICD10:
32
33
Orphanet: 58
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Genetics Home Reference :
25
Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).
Bilirubin has an orange-yellow tint, and hyperbilirubinemia causes yellowing of the skin and whites of the eyes (jaundice). In Crigler-Najjar syndrome, jaundice is apparent at birth or in infancy. Severe unconjugated hyperbilirubinemia can lead to a condition called kernicterus, which is a form of brain damage caused by the accumulation of unconjugated bilirubin in the brain and nerve tissues. Babies with kernicterus are often extremely tired (lethargic) and may have weak muscle tone (hypotonia). These babies may experience episodes of increased muscle tone (hypertonia) and arching of their backs. Kernicterus can lead to other neurological problems, including involuntary writhing movements of the body (choreoathetosis), hearing problems, or intellectual disability.
Crigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, and affected individuals can die in childhood due to kernicterus, although with proper treatment, they may survive longer. Type 2 (CN2) is less severe. People with CN2 are less likely to develop kernicterus, and most affected individuals survive into adulthood.
MalaCards based summary : Crigler-Najjar Syndrome, Type I, also known as crigler-najjar syndrome, is related to inherited metabolic disorder and crigler-najjar syndrome, type ii. An important gene associated with Crigler-Najjar Syndrome, Type I is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Metabolism. The drugs Diazepam and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include Liver, brain and eye, and related phenotypes are jaundice and prolonged neonatal jaundice Disease Ontology : 12 A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). NIH Rare Diseases : 52 Crigler Najjar syndrome , type 1 is an inherited disorder in which bilirubin , a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. Crigler Najjar syndrome, type 1 is caused by mutations in the UGT1A1 gene . The condition is inherited in an autosomal recessive manner. Treatment relies on regular phototherapy throughout life. Blood transfusions and calcium compounds have also been used. Liver transplantation may be considered in some individuals. KEGG : 36 Crigler-Najjar (CN) syndrome is a familial unconjugated hyperbilirubinemia. It is caused by deficiency of bilirubin-UDP-glucuronosyltransferase (UGT1A1) which is involved in the detoxification of bilirubin. There are two forms of CN. CN-1 is characterized by almost complete absence of UGT1A1 enzyme activity. Left untreated, CN-1 almost invariably results in death from bilirubin encephalopathy (kernicterus). CN-2 is characterized by intermediate levels of hyperbilirubinemia, due to a severe, but incomplete lack of UGT1A1 activity. UniProtKB/Swiss-Prot : 73 Crigler-Najjar syndrome 1: Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive. Wikipedia : 74 Crigler-Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin, a chemical... more... |
Human phenotypes related to Crigler-Najjar Syndrome, Type I:58 31 (show all 23)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:218800GenomeRNAi Phenotypes related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:26
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Drugs for Crigler-Najjar Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 24)
Interventional clinical trials:(show all 14)
Cell-based therapeutics:![]() Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Crigler-Najjar Syndrome, Type I cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Crigler-Najjar Syndrome, Type I:
Embryonic/Adult Cultured Cells Related to Crigler-Najjar Syndrome, Type I:
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MalaCards organs/tissues related to Crigler-Najjar Syndrome, Type I:40
Liver,
Brain,
Eye,
Skin,
Testes,
Thymus,
Heart
![]() Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Crigler-Najjar Syndrome, Type I:
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Articles related to Crigler-Najjar Syndrome, Type I:(show top 50) (show all 437)
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ClinVar genetic disease variations for Crigler-Najjar Syndrome, Type I:6 (show top 50) (show all 64)
UniProtKB/Swiss-Prot genetic disease variations for Crigler-Najjar Syndrome, Type I:73 (show all 21)
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Search
GEO
for disease gene expression data for Crigler-Najjar Syndrome, Type I.
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Pathways related to Crigler-Najjar Syndrome, Type I according to KEGG:36
Pathways related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:(show all 21)
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Cellular components related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:
Biological processes related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:
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