MCID: CRG004
MIFTS: 46

Crigler-Najjar Syndrome, Type Ii malady

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

Aliases & Classifications for Crigler-Najjar Syndrome, Type Ii

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 12diseasecard, 48Novoseek, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Crigler-Najjar Syndrome, Type Ii 50 46 23 12 48
Crigler-Najjar Syndrome Type Ii 68 25
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2 52
Hereditary Unconjugated Hyperbilirubinemia Type 2 52
Crigler Najjar Syndrome, Type 2 46
Bilirubin-Ugt Deficiency Type 2 52
 
Crigler-Najjar Syndrome Type 2 52
Crigler-Najjar Syndrome 2 68
Ugt Deficiency Type 2 52
Arias Syndrome 52
Cn-Ii 68
Cn2 68

Characteristics:

Orphanet epidemiological data:

52
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
crigler-najjar syndrome, type ii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 606785
Orphanet52 ORPHA79235
UMLS via Orphanet67 C0268311, C2931132
ICD10 via Orphanet29 E80.5
MESH via Orphanet38 C536213

Summaries for Crigler-Najjar Syndrome, Type Ii

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NIH Rare Diseases:46 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 ii, is related to gilbert syndrome and kernicterus, and has symptoms including abnormality of the liver, jaundice and unconjugated hyperbilirubinemia. 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:50 The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated... (606785) more...

UniProtKB/Swiss-Prot:68 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 for Crigler-Najjar Syndrome, Type Ii

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Symptoms by clinical synopsis from OMIM:

606785

Clinical features from OMIM:

606785

Symptoms:

 52
  • neonatal hyperbilirubinemia
  • prolonged neonatal jaundice
  • unconjugated hyperbilirubinemia

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 jaundice HP:0000952
3 unconjugated hyperbilirubinemia HP:0008282

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acetylcholine75251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride

Interventional clinical trials:

idNameStatusNCT IDPhase
1Gastrointestinal Biopsychosocial Research CenterCompletedNCT00947180Phase 3
2Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani SyndromeRecruitingNCT00564707
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 Ii25 23

Anatomical Context for Crigler-Najjar Syndrome, Type Ii

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

34
Skin, Brain, Eye, 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 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
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II. (25993113)
2015
4
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. (26250421)
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
Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II. (21319362)
2011
11
Three consecutive pregnancies in a woman with Crigler-Najjar syndrome type II with good maternal and neonatal outcomes. (20843754)
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
Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report. (11330728)
2001
22
A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II. (11668224)
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
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
26
Analysis of bilirubin uridine 5'-diphosphate (UDP)- glucuronosyltransferase gene mutations in seven patients with Crigler- Najjar syndrome type II. (9621515)
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
Identification of defect in the genes for bilirubin UDP-glucuronosyl- transferase in a patient with Crigler-Najjar syndrome type II. (8280139)
1993
30
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. (8514037)
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:

68 (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_026139
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
1NM_000463.2(UGT1A1): c.992A> G (p.Gln331Arg)single nucleotide variantPathogenicrs72551348GRCh37Chr 2, 234675807: 234675807
2NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp)single nucleotide variantPathogenicrs34993780GRCh37Chr 2, 234681059: 234681059
3UGT1A1UGT1A1, 1-BP DEL, 1223AdeletionPathogenic
4NM_000463.2(UGT1A1): c.524T> A (p.Leu175Gln)single nucleotide variantPathogenicrs72551341GRCh37Chr 2, 234669457: 234669457
5NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp)single nucleotide variantPathogenicrs28934877GRCh37Chr 2, 234676979: 234676979
6NM_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:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4UGT1A1, UGT1A9
2
Show member pathways
9.3UGT1A4, UGT1A9
3
Show member pathways
9.2UGT1A1, UGT1A6
48.5UGT1A4, UGT1A6, UGT1A9
5
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
6
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
7
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
88.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
9
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
10
Show member pathways
8.1UGT1A1, 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

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 reticulum membraneGO:00057898.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
2endoplasmic reticulumGO:00057837.8UGT1A1, 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:000678910.0UGT1A1, UGT1A4
2heme catabolic processGO:00421679.9UGT1A1, UGT1A4
3flavone metabolic processGO:00515529.8UGT1A1, UGT1A9
4retinoic acid metabolic processGO:00425739.1UGT1A1, UGT1A9
5flavonoid biosynthetic processGO:00098139.1UGT1A1, UGT1A4, UGT1A6
6xenobiotic metabolic processGO:00068059.0UGT1A6, UGT1A9
7xenobiotic glucuronidationGO:00526978.5UGT1A1, UGT1A4, UGT1A6, UGT1A9
8flavonoid glucuronidationGO:00526968.5UGT1A1, UGT1A4, UGT1A6, UGT1A9
9cellular glucuronidationGO:00526958.5UGT1A1, UGT1A4, UGT1A6, UGT1A9

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

idNameGO IDScoreTop Affiliating Genes
1glucuronosyltransferase activityGO:00150208.5UGT1A1, UGT1A4, UGT1A6, UGT1A9
2retinoic acid bindingGO:00019728.4UGT1A1, UGT1A4, UGT1A6, UGT1A9
3protein heterodimerization activityGO:00469828.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
4protein homodimerization activityGO:00428037.8UGT1A1, UGT1A4, UGT1A6, UGT1A9

Sources for Crigler-Najjar Syndrome, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet