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Crigler Najjar syndrome, type 1(HBLRCN1)

MedGen UID:
41346
Concept ID:
C0010324
Disease or Syndrome
Synonyms: Crigler-Najjar Syndrome, Type I
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Crigler-Najjar syndrome, type I (8933000); Deficiency of glucuronosyltransferase (8933000); Glucuronyltransferase deficiency (8933000); UDP glucuronyl transferase deficiency (8933000); Crigler-Najjar syndrome (28259009); Crigler-Najjar type 1 (8933000); Bilirubin UDP glucuronyl transferase deficiency (8933000); Bilirubin glucuronosyltransferase deficiency (8933000); Crigler-Najjar syndrome type I (8933000)
 
OMIM®: 218800
Orphanet: ORPHA205

Definition

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.
[from GHR]

Clinical features

Ophthalmoparesis
MedGen UID:
463310
Concept ID:
C3151960
Finding
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Encephalopathy
MedGen UID:
368408
Concept ID:
C1963101
Finding
Memory impairment
MedGen UID:
368424
Concept ID:
C1963167
Finding
Kernicterus
MedGen UID:
504810
Concept ID:
CN001231
Finding
Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.
Jaundice
MedGen UID:
427849
Concept ID:
CN000891
Finding
Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Abnormality of the liver
MedGen UID:
428258
Concept ID:
CN001274
Finding
An abnormality of the liver.
Elevated hepatic transaminases
MedGen UID:
505403
Concept ID:
CN002632
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Jaundice
MedGen UID:
427849
Concept ID:
CN000891
Finding
Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Unconjugated hyperbilirubinemia
MedGen UID:
506201
Concept ID:
CN007281
Finding
An increased amount of unconjugated (indirect) bilurubin in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Etiology

Erlinger S, Arias IM, Dhumeaux D
Gastroenterology 2014 Jun;146(7):1625-38. Epub 2014 Apr 1 doi: 10.1053/j.gastro.2014.03.047. [Epub ahead of print] PMID: 24704527
Bayram E, Öztürk Y, Hız S, Topçu Y, Kılıç M, Zeytunlu M
Turk J Pediatr 2013 May-Jun;55(3):349-53. PMID: 24217087
Nilyanimit P, Krasaelap A, Foonoi M, Chongsrisawat V, Poovorawan Y
Genet Mol Res 2013 Sep 4;12(3):3391-7. doi: 10.4238/2013.September.4.5. PMID: 24065680
Peña L, Pico M, Rosatelli C, Meloni A, Del Río E, Tizzano EF, Baiget M
J Pediatr Gastroenterol Nutr 2012 Nov;55(5):e136-7. doi: 10.1097/MPG.0b013e318234ecd9. PMID: 22722682
Iijima S, Ohzeki T, Maruo Y
Yonsei Med J 2011 Mar;52(2):369-72. doi: 10.3349/ymj.2011.52.2.369. PMID: 21319362Free PMC Article

Diagnosis

Li Y, Qu YJ, Zhong XM, Cao YY, Jin LM, Bai JL, Ma X, Jin YW, Wang H, Zhang YL, Song F
J Zhejiang Univ Sci B 2014 May;15(5):474-81. doi: 10.1631/jzus.B1300233. PMID: 24793765Free PMC Article
Mohammadi Asl J, Tabatabaiefar MA, Galehdari H, Riahi K, Masbi MH, Zargar Shoshtari Z, Rahim F
Biomed Res Int 2013;2013:342371. Epub 2013 Oct 28 doi: 10.1155/2013/342371. PMID: 24286076Free PMC Article
Bayram E, Öztürk Y, Hız S, Topçu Y, Kılıç M, Zeytunlu M
Turk J Pediatr 2013 May-Jun;55(3):349-53. PMID: 24217087
Tu ZH, Shang DS, Jiang JC, Zhang W, Zhang M, Wang WL, Lou HY, Zheng SS
Hepatobiliary Pancreat Dis Int 2012 Oct;11(5):545-8. PMID: 23060403
Liu WL, Li F, He ZX, Jiang HY, Ai R, Chen XX, Huang K
Mol Med Rep 2012 Sep;6(3):667-9. Epub 2012 Jun 15 doi: 10.3892/mmr.2012.950. [Epub ahead of print] PMID: 22710376

Therapy

Pratini NR, Neufeld JA
PM R 2014 Feb;6(2):196-8. Epub 2013 Dec 21 doi: 10.1016/j.pmrj.2013.09.004. [Epub ahead of print] PMID: 24365780Free PMC Article
Liu WL, Li F, He ZX, Jiang HY, Ai R, Chen XX, Huang K
Mol Med Rep 2012 Sep;6(3):667-9. Epub 2012 Jun 15 doi: 10.3892/mmr.2012.950. [Epub ahead of print] PMID: 22710376
Novaes-Junior JB, Martins MT, Lages EM, Vale MP, Pretti H, Paiva SM
Gen Dent 2012 Mar-Apr;60(2):e114-8. PMID: 22414515
Wang J, Fang LJ, Li L, Wang JS, Chen C
Chin Med J (Engl) 2011 Dec;124(23):4109-11. PMID: 22340355
Iijima S, Ohzeki T, Maruo Y
Yonsei Med J 2011 Mar;52(2):369-72. doi: 10.3349/ymj.2011.52.2.369. PMID: 21319362Free PMC Article

Prognosis

Li Y, Qu YJ, Zhong XM, Cao YY, Jin LM, Bai JL, Ma X, Jin YW, Wang H, Zhang YL, Song F
J Zhejiang Univ Sci B 2014 May;15(5):474-81. doi: 10.1631/jzus.B1300233. PMID: 24793765Free PMC Article
Bayram E, Öztürk Y, Hız S, Topçu Y, Kılıç M, Zeytunlu M
Turk J Pediatr 2013 May-Jun;55(3):349-53. PMID: 24217087
Tu ZH, Shang DS, Jiang JC, Zhang W, Zhang M, Wang WL, Lou HY, Zheng SS
Hepatobiliary Pancreat Dis Int 2012 Oct;11(5):545-8. PMID: 23060403
Bortolussi G, Zentilin L, Baj G, Giraudi P, Bellarosa C, Giacca M, Tiribelli C, Muro AF
FASEB J 2012 Mar;26(3):1052-63. Epub 2011 Nov 17 doi: 10.1096/fj.11-195461. [Epub ahead of print] PMID: 22094718Free PMC Article
Aggarwal V, Seth A, Sharma S, Aneja S, Sammarco P, Fabiano C
Pediatr Blood Cancer 2010 Apr;54(4):627-8. doi: 10.1002/pbc.22313. PMID: 19953640

Clinical prediction guides

Suzuki M, Hirata M, Takagi M, Watanabe T, Iguchi T, Koiwai K, Maezawa S, Koiwai O
J Hum Genet 2014 Mar;59(3):158-62. Epub 2014 Jan 9 doi: 10.1038/jhg.2013.138. [Epub ahead of print] PMID: 24401909Free PMC Article
Tu ZH, Shang DS, Jiang JC, Zhang W, Zhang M, Wang WL, Lou HY, Zheng SS
Hepatobiliary Pancreat Dis Int 2012 Oct;11(5):545-8. PMID: 23060403
Liu WL, Li F, He ZX, Jiang HY, Ai R, Chen XX, Huang K
Mol Med Rep 2012 Sep;6(3):667-9. Epub 2012 Jun 15 doi: 10.3892/mmr.2012.950. [Epub ahead of print] PMID: 22710376
Montenegro-Miranda PS, ten Bloemendaal L, Kunne C, de Waart DR, Bosma PJ
Hum Gene Ther 2011 May;22(5):605-12. Epub 2011 Apr 11 doi: 10.1089/hum.2010.222. [Epub ahead of print] PMID: 21222531
Walmsley D, Alzaharani K, Coke WJ, Gandhi R
Knee 2010 Jun;17(3):252-4. Epub 2009 Sep 13 doi: 10.1016/j.knee.2009.08.012. [Epub ahead of print] PMID: 19751978

Recent systematic reviews

Passuello V, Puhl AG, Wirth S, Steiner E, Skala C, Koelbl H, Kohlschmidt N
Fetal Diagn Ther 2009;26(3):121-6. Epub 2009 Sep 11 doi: 10.1159/000238122. [Epub ahead of print] PMID: 19752526

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