CN2
MCID: CRG004
MIFTS: 48

Crigler-Najjar Syndrome, Type Ii (CN2) malady

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases

Aliases & Classifications for Crigler-Najjar Syndrome, Type Ii

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Crigler-Najjar Syndrome, Type Ii:

Name: Crigler-Najjar Syndrome, Type Ii 52 48 24 12 50
Crigler Najjar Syndrome, Type 2 48 68
Crigler-Najjar Syndrome Type Ii 70 27
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2 54
Hereditary Unconjugated Hyperbilirubinemia Type 2 54
Bilirubin-Ugt Deficiency Type 2 54
 
Crigler-Najjar Syndrome Type 2 54
Crigler-Najjar Syndrome 2 70
Ugt Deficiency Type 2 54
Arias Syndrome 54
Cn-Ii 70
Cn2 70

Characteristics:

Orphanet epidemiological data:

54
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
crigler-najjar syndrome, type ii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 606785
Orphanet54 ORPHA79235
UMLS via Orphanet69 C0268311, C2931132
MESH via Orphanet40 C536213
ICD10 via Orphanet31 E80.5

Summaries for Crigler-Najjar Syndrome, Type Ii

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NIH Rare Diseases:48 Crigler najjar syndrome, type 2 is caused by mutations in the ugt1a1 gene. the gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice). this condition is less severe than the type 1 form, however the severity of type ii can vary greatly. almost all patients with crigler najjar syndrome, type 2 develop normally, but there is a risk for some neurologic damage from kernicterus (bilirubin accumulation in the brain). in general people with type 2 crigler najjar syndrome have serum bilirubin levels ranging from 20 to 45 mg/dl. phenobarbital treatment is the standard therapy for this condition and can often help to drastically reduce the bilirubin levels. last updated: 1/19/2011

MalaCards based summary: Crigler-Najjar Syndrome, Type Ii, also known as crigler najjar syndrome, type 2, is related to gilbert syndrome and kernicterus, and has symptoms including icterus, icterus and Array. An important gene associated with Crigler-Najjar Syndrome, Type Ii is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways are Statin Pathway - Generalized, Pharmacokinetics and Nicotine Pathway, Pharmacokinetics. Affiliated tissues include skin, brain and eye.

OMIM:52 The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated... (606785) more...

UniProtKB/Swiss-Prot:70 Crigler-Najjar syndrome 2: Patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant.

Related Diseases for Crigler-Najjar Syndrome, Type Ii

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Graphical network of the top 20 diseases related to Crigler-Najjar Syndrome, Type Ii:



Diseases related to crigler-najjar syndrome, type ii

Symptoms & Phenotypes for Crigler-Najjar Syndrome, Type Ii

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Symptoms by clinical synopsis from OMIM:

606785

Clinical features from OMIM:

606785

Human phenotypes related to Crigler-Najjar Syndrome, Type Ii:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neonatal hyperbilirubinemia64 54 Very frequent (99-80%) HP:0003265
2 prolonged neonatal jaundice64 54 Very frequent (99-80%) HP:0006579
3 unconjugated hyperbilirubinemia64 54 Very frequent (99-80%) HP:0008282
4 jaundice64 HP:0000952

UMLS symptoms related to Crigler-Najjar Syndrome, Type Ii:


icterus

Drugs & Therapeutics for Crigler-Najjar Syndrome, Type Ii

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Drugs for Crigler-Najjar Syndrome, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acetylcholineapproved80551-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2Neurotransmitter Agents18340
3onabotulinumtoxinA652
4Peripheral Nervous System Agents23689
5Neuromuscular Agents1180
6Cholinergic Agents3992
7Botulinum Toxins697
8Botulinum Toxins, Type A657
9abobotulinumtoxinA652
10incobotulinumtoxinA662

Interventional clinical trials:

idNameStatusNCT IDPhase
1Gastrointestinal Biopsychosocial Research CenterCompletedNCT00947180Phase 3
2Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani SyndromeUnknown statusNCT00564707
3A Study Examining the Use of Vaginal Nifedipine With Pelvic Floor Physical Therapy for Levator Myalgia and Pelvic PainWithdrawnNCT01586286

Search NIH Clinical Center for Crigler-Najjar Syndrome, Type Ii

Genetic Tests for Crigler-Najjar Syndrome, Type Ii

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Genetic tests related to Crigler-Najjar Syndrome, Type Ii:

id Genetic test Affiliating Genes
1 Crigler-Najjar Syndrome, Type Ii27 24

Anatomical Context for Crigler-Najjar Syndrome, Type Ii

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MalaCards organs/tissues related to Crigler-Najjar Syndrome, Type Ii:

36
Skin, Brain, Eye, Liver

Publications for Crigler-Najjar Syndrome, Type Ii

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Articles related to Crigler-Najjar Syndrome, Type Ii:

(show all 33)
idTitleAuthorsYear
1
Genetic analysis of a child affected with Crigler-Najjar syndrome type II]. (27264814)
2016
2
Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report. (26968162)
2016
3
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. (26250421)
2015
4
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II. (25993113)
2015
5
Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis. (25319636)
2014
6
Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II. (24749086)
2014
7
Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum. (24401909)
2014
8
Role of a homozygous A(TA)a88TAA promoter polymorphism and an exon 1 heterozygous frameshift mutation UGT1A1 in Crigler-Najjar syndrome type II in a Thai neonate. (24065680)
2013
9
Phenotype heterogeneity of hyperbilirubinemia condition: the lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler-Najjar syndrome type II in an Italian patient. (22633750)
2012
10
Three consecutive pregnancies in a woman with Crigler-Najjar syndrome type II with good maternal and neonatal outcomes. (20843754)
2011
11
Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II. (21319362)
2011
12
Pregnancy with Crigler-Najjar syndrome type II. (19358036)
2009
13
Pregnancy outcome in maternal Crigler-Najjar syndrome type II: a case report and systematic review of the literature. (19752526)
2009
14
A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis. (18419642)
2008
15
Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type II. (17454871)
2007
16
Fenofibrate treatment in two adults with Crigler-Najjar syndrome type II. (16830281)
2006
17
Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1. (16456422)
2006
18
Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II. (16211719)
2005
19
Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. (11983459)
2002
20
Kernicterus in a child with Crigler-Najjar Syndrome Type II. (12170921)
2002
21
A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II. (11668224)
2001
22
Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report. (11330728)
2001
23
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. (11182932)
2000
24
Mutation of UGT1A1 gene in a case of Crigler-Najjar syndrome type II. (10364060)
1999
25
Analysis of bilirubin uridine 5'-diphosphate (UDP)- glucuronosyltransferase gene mutations in seven patients with Crigler- Najjar syndrome type II. (9621515)
1998
26
Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. (9630669)
1998
27
Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait. (8733132)
1996
28
Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance. (7821116)
1995
29
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. (8514037)
1993
30
Identification of defect in the genes for bilirubin UDP-glucuronosyl- transferase in a patient with Crigler-Najjar syndrome type II. (8280139)
1993
31
Crigler-Najjar syndrome type II with kernicterus. (3443510)
1987
32
Effect of phenobarbital on serum and biliary parameters in a patient with Crigler-Najjar syndrome, type II and acquired cholestasis. (6872808)
1983
33
Bilirubin secretion and conjujation in the Crigler-Najjar syndrome type II. (1261771)
1976

Variations for Crigler-Najjar Syndrome, Type Ii

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UniProtKB/Swiss-Prot genetic disease variations for Crigler-Najjar Syndrome, Type Ii:

70 (show all 29)
id Symbol AA change Variation ID SNP ID
1UGT1A1p.Arg209TrpVAR_007698rs72551343
2UGT1A1p.Gln331ArgVAR_007702rs72551348
3UGT1A1p.Tyr486AspVAR_007709rs34993780
4UGT1A1p.Gly71ArgVAR_009504rs4148323
5UGT1A1p.Pro229GlnVAR_009505rs35350960
6UGT1A1p.Leu15ArgVAR_019410rs111033541
7UGT1A1p.Leu175GlnVAR_019411rs72551341
8UGT1A1p.Asn400AspVAR_019412rs28934877
9UGT1A1p.Pro34GlnVAR_026134
10UGT1A1p.Val225GlyVAR_026137rs35003977
11UGT1A1p.Ile294ThrVAR_026139rs72551347
12UGT1A1p.Arg336LeuVAR_026140
13UGT1A1p.Arg336TrpVAR_026142rs139607673
14UGT1A1p.Trp354ArgVAR_026143
15UGT1A1p.His376ArgVAR_026144
16UGT1A1p.Gly377ValVAR_026145
17UGT1A1p.Arg403CysVAR_026148rs778766461
18UGT1A1p.Trp461ArgVAR_026149
19UGT1A1p.Ala478AspVAR_026150
20UGT1A1p.Ser191PheVAR_064956
21UGT1A1p.Asn279TyrVAR_064957rs397978903
22UGT1A1p.Ile370ValVAR_064958rs748989741
23UGT1A1p.Pro387HisVAR_064959
24UGT1A1p.Leu443ProVAR_064961rs758411577
25UGT1A1p.Tyr230CysVAR_071403rs754922685
26UGT1A1p.Arg367CysVAR_071404rs55750087
27UGT1A4p.Gln332ArgVAR_007710rs72551348
28UGT1A4p.Leu132ProVAR_009506rs72551337
29UGT1A4p.Tyr487AspVAR_009507rs34993780

Clinvar genetic disease variations for Crigler-Najjar Syndrome, Type Ii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1UGT1A1NM_ 000463.2(UGT1A1): c.992A> G (p.Gln331Arg)SNVPathogenicrs72551348GRCh37Chr 2, 234675807: 234675807
2UGT1A1NM_ 000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp)SNVPathogenicrs34993780GRCh37Chr 2, 234681059: 234681059
3UGT1A1UGT1A1, 1-BP DEL, 1223AdeletionPathogenic
4UGT1A1NM_ 000463.2(UGT1A1): c.524T> A (p.Leu175Gln)SNVPathogenicrs72551341GRCh37Chr 2, 234669457: 234669457
5UGT1A1NM_ 000463.2(UGT1A1): c.1198A> G (p.Asn400Asp)SNVPathogenicrs28934877GRCh37Chr 2, 234676979: 234676979
6UGT1A1NM_ 000463.2(UGT1A1): c.44T> G (p.Leu15Arg)SNVPathogenicrs111033541GRCh37Chr 2, 234668977: 234668977

Expression for genes affiliated with Crigler-Najjar Syndrome, Type Ii

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Search GEO for disease gene expression data for Crigler-Najjar Syndrome, Type Ii.

Pathways for genes affiliated with Crigler-Najjar Syndrome, Type Ii

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Pathways related to Crigler-Najjar Syndrome, Type Ii according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4UGT1A1, UGT1A9
2
Show member pathways
9.3UGT1A4, UGT1A9
3
Show member pathways
8.9UGT1A1, UGT1A4, UGT1A9
48.5UGT1A4, UGT1A6, UGT1A9
5
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
6
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
78.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
8
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
9
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
108.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
11
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
12
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
13
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
148.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
158.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
16
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9

GO Terms for genes affiliated with Crigler-Najjar Syndrome, Type Ii

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Cellular components related to Crigler-Najjar Syndrome, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057838.8UGT1A1, UGT1A4, UGT1A6, UGT1A9
2endoplasmic reticulum membraneGO:00057898.7UGT1A1, UGT1A4, UGT1A6, UGT1A9
3intracellular membrane-bounded organelleGO:00432318.1UGT1A1, UGT1A4, UGT1A6, UGT1A9

Biological processes related to Crigler-Najjar Syndrome, Type Ii according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1bilirubin conjugationGO:000678910.2UGT1A1, UGT1A4
2heme catabolic processGO:004216710.2UGT1A1, UGT1A4
3flavone metabolic processGO:005155210.1UGT1A1, UGT1A9
4flavonoid glucuronidationGO:005269610.1UGT1A1, UGT1A9
5retinoic acid metabolic processGO:00425739.9UGT1A1, UGT1A9
6xenobiotic metabolic processGO:00068059.0UGT1A6, UGT1A9
7cellular glucuronidationGO:00526958.7UGT1A1, UGT1A4, UGT1A6, UGT1A9
8metabolic processGO:00081528.6UGT1A1, UGT1A4, UGT1A6, UGT1A9
9xenobiotic glucuronidationGO:00526978.6UGT1A1, UGT1A4, UGT1A6, UGT1A9

Molecular functions related to Crigler-Najjar Syndrome, Type Ii according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glucuronosyltransferase activityGO:00150208.8UGT1A1, UGT1A4, UGT1A6, UGT1A9
2protein heterodimerization activityGO:00469828.8UGT1A1, UGT1A4, UGT1A6, UGT1A9
3protein homodimerization activityGO:00428038.8UGT1A1, UGT1A4, UGT1A6, UGT1A9
4retinoic acid bindingGO:00019728.8UGT1A1, UGT1A4, UGT1A6, UGT1A9
5transferase activityGO:00167408.7UGT1A1, UGT1A4, UGT1A6, UGT1A9
6transferase activity, transferring glycosyl groupsGO:00167578.5UGT1A1, UGT1A4, UGT1A6, UGT1A9
7transferase activity, transferring hexosyl groupsGO:00167588.1UGT1A1, UGT1A4, UGT1A6, UGT1A9

Sources for Crigler-Najjar Syndrome, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet