MCID: CRG004
MIFTS: 44

Crigler-Najjar Syndrome, Type Ii malady

Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases categories

Summaries for Crigler-Najjar Syndrome, Type Ii

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NIH Rare Diseases:41 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 abnormality of the liver, autosomal recessive inheritance and jaundice. An important gene associated with Crigler-Najjar Syndrome, Type Ii is UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1), and among its related pathways are Chemical carcinogenesis and Fatty acid, triacylglycerol, and ketone body metabolism. The compounds scopoletin and chrysin have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin.

OMIM:45 The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated... (606785) more...

Aliases & Classifications for Crigler-Najjar Syndrome, Type Ii

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 61UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Crigler-Najjar Syndrome, Type Ii 45 10 41 43
Crigler-Najjar Syndrome Type 2 41 20 47 22
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2 41 47
Hereditary Unconjugated Hyperbilirubinemia Type 2 41 47
 
Bilirubin-Ugt Deficiency Type 2 41 47
Crigler Najjar Syndrome, Type 2 41 60
Ugt Deficiency Type 2 41 47
Arias Syndrome 41 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Liver diseases


Characteristics (Orphanet epidemiological data):

47
crigler-najjar syndrome type 2:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 606785
Orphanet47 79235
UMLS via Orphanet61 C0268311, C2931132
MESH via Orphanet34 C536213
ICD10 via Orphanet26 E80.5

Related Diseases for Crigler-Najjar Syndrome, Type Ii

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Diseases in the Crigler-Najjar Syndrome, Type I family:

crigler-najjar syndrome, type ii

Diseases related to Crigler-Najjar Syndrome, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gilbert syndrome31.2UGT1A1
2kernicterus30.9UGT1A1, UGT1A4
3hereditary spherocytosis10.5
4glucose-6-phosphate dehydrogenase deficiency10.5
5cholestasis10.5
6crigler-najjar syndrome, type i10.0UGT1A4, UGT1A1
7endometrial cancer9.8UGT1A, UGT1A1
8bilirubin metabolic disorder9.8UGT1A4, UGT1A1

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



Diseases related to crigler-najjar syndrome, type ii

Symptoms for Crigler-Najjar Syndrome, Type Ii

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Symptoms by clinical synopsis from OMIM:

606785

Clinical features from OMIM:

606785

Symptoms:

 47
  • hepatitis/icterus/cholestasis
  • autosomal recessive inheritance

HPO human phenotypes related to Crigler-Najjar Syndrome, Type Ii:

id Description Frequency HPO Source Accession
1 abnormality of the liver hallmark (90%) HP:0001392
2 autosomal recessive inheritance HP:0000007
3 jaundice HP:0000952
4 unconjugated hyperbilirubinemia HP:0008282

Drugs & Therapeutics for Crigler-Najjar Syndrome, Type Ii

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Drug clinical trials:

Search ClinicalTrials for Crigler-Najjar Syndrome, Type Ii

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 Ii20 22

Anatomical Context for Crigler-Najjar Syndrome, Type Ii

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

31
Eye, Brain, Skin, Liver

Animal Models for Crigler-Najjar Syndrome, Type Ii or affiliated genes

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Publications for Crigler-Najjar Syndrome, Type Ii

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Articles related to Crigler-Najjar Syndrome, Type Ii:

(show all 29)
idTitleAuthorsYear
1
Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum. (24401909)
2014
2
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
3
Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II. (24749086)
2014
4
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
5
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
6
Three consecutive pregnancies in a woman with Crigler-Najjar syndrome type II with good maternal and neonatal outcomes. (20843754)
2011
7
Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II. (21319362)
2011
8
Pregnancy with Crigler-Najjar syndrome type II. (19358036)
2009
9
Pregnancy outcome in maternal Crigler-Najjar syndrome type II: a case report and systematic review of the literature. (19752526)
2009
10
A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis. (18419642)
2008
11
Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type II. (17454871)
2007
12
Fenofibrate treatment in two adults with Crigler-Najjar syndrome type II. (16830281)
2006
13
Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1. (16456422)
2006
14
Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II. (16211719)
2005
15
Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. (11983459)
2002
16
Kernicterus in a child with Crigler-Najjar Syndrome Type II. (12170921)
2002
17
Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report. (11330728)
2001
18
A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II. (11668224)
2001
19
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. (11182932)
2000
20
Mutation of UGT1A1 gene in a case of Crigler-Najjar syndrome type II. (10364060)
1999
21
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
22
Analysis of bilirubin uridine 5'-diphosphate (UDP)- glucuronosyltransferase gene mutations in seven patients with Crigler- Najjar syndrome type II. (9621515)
1998
23
Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait. (8733132)
1996
24
Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance. (7821116)
1995
25
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. (8514037)
1993
26
Identification of defect in the genes for bilirubin UDP-glucuronosyl- transferase in a patient with Crigler-Najjar syndrome type II. (8280139)
1993
27
Crigler-Najjar syndrome type II with kernicterus. (3443510)
1987
28
Effect of phenobarbital on serum and biliary parameters in a patient with Crigler-Najjar syndrome, type II and acquired cholestasis. (6872808)
1983
29
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:

62 (show all 29)
id Symbol AA change Variation ID SNP ID
1UGT1A1p.Arg209TrpVAR_007698
2UGT1A1p.Gln331ArgVAR_007702
3UGT1A1p.Tyr486AspVAR_007709
4UGT1A1p.Gly71ArgVAR_009504rs4148323
5UGT1A1p.Pro229GlnVAR_009505rs35350960
6UGT1A1p.Leu15ArgVAR_019410
7UGT1A1p.Leu175GlnVAR_019411
8UGT1A1p.Asn400AspVAR_019412rs28934877
9UGT1A1p.Pro34GlnVAR_026134
10UGT1A1p.Val225GlyVAR_026137rs35003977
11UGT1A1p.Ile294ThrVAR_026139
12UGT1A1p.Arg336LeuVAR_026140
13UGT1A1p.Arg336TrpVAR_026142
14UGT1A1p.Trp354ArgVAR_026143
15UGT1A1p.His376ArgVAR_026144
16UGT1A1p.Gly377ValVAR_026145
17UGT1A1p.Arg403CysVAR_026148
18UGT1A1p.Trp461ArgVAR_026149
19UGT1A1p.Ala478AspVAR_026150
20UGT1A1p.Ser191PheVAR_064956
21UGT1A1p.Asn279TyrVAR_064957
22UGT1A1p.Ile370ValVAR_064958
23UGT1A1p.Pro387HisVAR_064959
24UGT1A1p.Leu443ProVAR_064961
25UGT1A1p.Tyr230CysVAR_071403
26UGT1A1p.Arg367CysVAR_071404
27UGT1A4p.Gln332ArgVAR_007710
28UGT1A4p.Leu132ProVAR_009506
29UGT1A4p.Tyr487AspVAR_009507

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000463.2(UGT1A1): c.992A> G (p.Gln331Arg)single nucleotide variantPathogenicrs72551348GRCh37Chr 2, 234675807: 234675807
2NM_000463.2(UGT1A1): c.686C> A (p.Pro229Gln)single nucleotide variantPathogenicrs35350960GRCh37Chr 2, 234669619: 234669619
3UGT1A1*28duplicationPathogenicrs34983651GRCh37Chr 2, 234668880: 234668893
4NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp)single nucleotide variantPathogenicrs34993780GRCh37Chr 2, 234681059: 234681059
5UGT1A1UGT1A1, 1-BP DEL, 1223AdeletionPathogenic
6NM_000463.2(UGT1A1): c.524T> A (p.Leu175Gln)single nucleotide variantPathogenicrs72551341GRCh37Chr 2, 234669457: 234669457
7NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp)single nucleotide variantPathogenicrs28934877GRCh37Chr 2, 234676979: 234676979
8NM_000463.2(UGT1A1): c.44T> G (p.Leu15Arg)single nucleotide variantPathogenicrs111033541GRCh37Chr 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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0UGT1A1, UGT1A4
2
Show member pathways
9.0UGT1A1, UGT1A4
3
Show member pathways
9.0UGT1A1, UGT1A4
4
Show member pathways
9.0UGT1A1, UGT1A4
5
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
9.0UGT1A4, UGT1A1
6
Show member pathways
9.0UGT1A1, UGT1A4
7
Show member pathways
9.0UGT1A1, UGT1A4
8
Show member pathways
tetrapyrrole biosynthesis36
heme degradation36
Heme Biosynthesis36
heme biosynthesis36
heme biosynthesis from uroporphyrinogen-III I36
9.0UGT1A1, UGT1A4
99.0UGT1A1, UGT1A4

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

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

(show top 50)    (show all 153)
idCompoundScoreTop Affiliating Genes
1scopoletin439.7UGT1A1, UGT1A
2chrysin439.7UGT1A1, UGT1A
3morphine 6-glucuronide439.7UGT1A, UGT1A1
4sn38 glucuronide439.7UGT1A, UGT1A1
5morphine-3-glucuronide439.7UGT1A1, UGT1A
61-naphthol439.7UGT1A, UGT1A1
74-methylumbelliferone439.7UGT1A, UGT1A1
8atazanavir43 49 1211.7UGT1A, UGT1A1
9udp glucuronic acid439.7UGT1A1, UGT1A
102-naphthylamine439.5UGT1A4, UGT1A
11n-acetylbenzidine439.4UGT1A4, UGT1A1
12ethyl glucuronide43 2410.4UGT1A4, UGT1A1
13eltrombopag49 1210.3UGT1A1, UGT1A4
14Glycochenodeoxycholic acid 3-glucuronide249.3UGT1A1, UGT1A4
15Etiocholanolone glucuronide249.3UGT1A4, UGT1A1
16Estrone glucuronide249.3UGT1A4, UGT1A1
17Estriol-3-glucuronide249.3UGT1A4, UGT1A1
18Tetrahydroaldosterone-3-glucuronide249.3UGT1A1, UGT1A4
19Thyroxine glucuronide249.3UGT1A1, UGT1A4
20trans-3-Hydroxycotinine glucuronide249.3UGT1A1, UGT1A4
21Triiodothyronine glucuronide249.2UGT1A1, UGT1A4
22Cholesterol glucuronide249.2UGT1A4, UGT1A1
2317-beta-estradiol-3-glucuronide249.2UGT1A1, UGT1A4
2417-hydroxyandrostane-3-glucuronide249.1UGT1A1, UGT1A4
252-Methoxy-estradiol-17b 3-glucuronide249.1UGT1A1, UGT1A4
262-Methoxyestrone 3-glucuronide249.0UGT1A1, UGT1A4
27Cholestane-3,7,12,25-tetrol-3-glucuronide249.0UGT1A1, UGT1A4
28n-hydroxy phip439.0UGT1A4, UGT1A1, UGT1A
29lamotrigine43 49 1211.0UGT1A4, UGT1A, UGT1A1
30glucuronide439.0UGT1A, UGT1A4, UGT1A1
31benzidine439.0UGT1A4, UGT1A, UGT1A1
32phip439.0UGT1A1, UGT1A, UGT1A4
33cotinine43 249.9UGT1A4, UGT1A1, UGT1A
34p-nitrophenol43 129.9UGT1A4, UGT1A, UGT1A1
35uridine diphosphate438.9UGT1A1, UGT1A, UGT1A4
36trifluoperazine43 28 49 1211.9UGT1A, UGT1A1, UGT1A4
37propofol43 49 1210.9UGT1A1, UGT1A4, UGT1A
38diclofenac43 28 49 1211.9UGT1A4, UGT1A, UGT1A1
39imipramine43 28 49 24 1212.9UGT1A4, UGT1A, UGT1A1
40Benzoyl glucuronide (Benzoic acid)248.9UGT1A1, UGT1A4
41uridine43 24 1210.9UGT1A, UGT1A1, UGT1A4
42acetaminophen43 2 49 24 1212.9UGT1A1, UGT1A4, UGT1A
43amine438.9UGT1A1, UGT1A, UGT1A4
44estrone43 28 24 1211.9UGT1A4, UGT1A, UGT1A1
45valproic acid43 49 24 1211.9UGT1A1, UGT1A, UGT1A4
46morphine43 49 28 1211.9UGT1A4, UGT1A1, UGT1A
47troglitazone43 28 59 1211.9UGT1A4, UGT1A1, UGT1A
48nicotine43 28 49 1211.9UGT1A, UGT1A4, UGT1A1
49tamoxifen43 49 28 1211.8UGT1A4, UGT1A, UGT1A1
50Bilirubin glucuronide248.7UGT1A1, UGT1A4

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

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

idNameGO IDScoreTop Affiliating Genes
1xenobiotic metabolic processGO:00068059.0UGT1A1, UGT1A4
2cellular glucuronidationGO:00526958.7UGT1A1, UGT1A4

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

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:00019729.0UGT1A1, UGT1A4
2protein heterodimerization activityGO:00469829.0UGT1A1, UGT1A4
3glucuronosyltransferase activityGO:00150208.9UGT1A1, UGT1A4
4enzyme bindingGO:00198998.7UGT1A1, UGT1A4

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

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Sources for Crigler-Najjar Syndrome, Type Ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet