Crigler-Najjar Syndrome, Type I (CN1)

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Disease Ontology 12 DOID:3803 OMIM 56 218800 OMIM Phenotypic Series 56 PS237450 KEGG 36 H02054 MeSH 43 D003414 NCIt 49 C84656 SNOMED-CT 67 28259009 8933000 ICD10 32 E80.5

MESH via Orphanet 44 C536212 D003414 ICD10 via Orphanet 33 E80.5 UMLS via Orphanet 72 C0010324 C2931131 Orphanet 58 ORPHA205 ORPHA79234 MedGen 41 C0010324 SNOMED-CT via HPO 68 103276001 105997008 128613002 15188001 162294008 18165001 214264003 228156007 229721007 246545002 247578003 258211005 26079004 271789005 281610001 29164008 313307000 343087000 386807006 387712008 388980004 398151007 398152000 399090003 399153001 404640003 45170000 50143004 55533009 62415009 74925009 7752002 81308009 84757009 91138005 91175000 95828007 more UMLS 71 C0010324

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 carbamide peroxide and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include Liver, brain and eye, and related phenotypes are jaundice and neonatal hyperbilirubinemia

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...

More information from OMIM: 218800 PS237450

Clinical features from OMIM:

218800

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