MCID: CRG002
MIFTS: 47

Crigler Najjar Syndrome, Type 2 malady

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

Summaries for Crigler Najjar Syndrome, Type 2

About this section


NIH Rare Diseases:42 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 2, also known as crigler-najjar syndrome, type ii, is related to crigler-najjar syndrome and gilbert syndrome, and has symptoms including abnormality of the liver, autosomal recessive inheritance and jaundice. An important gene associated with Crigler Najjar Syndrome, Type 2 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 n-acetylbenzidine and n-hydroxy phip have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin.

OMIM:46 The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated... (606785) more...

Aliases & Classifications for Crigler Najjar Syndrome, Type 2

About this section
Sources:
42NIH Rare Diseases, 21GeneTests, 23GTR, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 62UMLS via Orphanet, 35MESH via Orphanet, 27ICD10 via Orphanet
See all sources

Crigler Najjar Syndrome, Type 2, Aliases & Descriptions:

Name: Crigler Najjar Syndrome, Type 2 42
Crigler-Najjar Syndrome, Type Ii 42 21 23 46 44 61
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2 48
Hereditary Unconjugated Hyperbilirubinemia Type 2 48
 
Bilirubin-Ugt Deficiency Type 2 48
Crigler-Najjar Syndrome Type 2 48
Ugt Deficiency Type 2 48
Arias Syndrome 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Normal


External Ids:

UMLS via Orphanet62 C0268311, C2931132
OMIM46 606785
MESH via Orphanet35 C536213
ICD10 via Orphanet27 E80.5

Related Diseases for Crigler Najjar Syndrome, Type 2

About this section

Diseases in the Crigler-Najjar Syndrome family:

crigler najjar syndrome, type 2

Diseases related to Crigler Najjar Syndrome, Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1crigler-najjar syndrome31.0UGT1A1, UGT1A4
2gilbert syndrome30.7UGT1A4, UGT1A1
3kernicterus30.5UGT1A4, UGT1A1
4hereditary spherocytosis10.5
5cholestasis10.5
6bilirubin metabolic disorder9.9UGT1A4, UGT1A1

Graphical network of diseases related to Crigler Najjar Syndrome, Type 2:



Diseases related to crigler najjar syndrome, type 2

Symptoms for Crigler Najjar Syndrome, Type 2

About this section

Symptoms by clinical synopsis from OMIM:

606785

Clinical features from OMIM:

606785

Symptoms:

 48
  • hepatitis/icterus/cholestasis
  • autosomal recessive inheritance

HPO human phenotypes related to Crigler Najjar Syndrome, Type 2:

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 2

About this section

Drug clinical trials:

Search ClinicalTrials for Crigler Najjar Syndrome, Type 2

Search NIH Clinical Center for Crigler Najjar Syndrome, Type 2

Genetic Tests for Crigler Najjar Syndrome, Type 2

About this section

Genetic tests related to Crigler Najjar Syndrome, Type 2:

id Genetic test Affiliating Genes
1 Crigler-Najjar Syndrome, Type Ii21 23

Anatomical Context for Crigler Najjar Syndrome, Type 2

About this section

MalaCards organs/tissues related to Crigler Najjar Syndrome, Type 2:

32
Eye, Brain, Skin, Liver

Animal Models for Crigler Najjar Syndrome, Type 2 or affiliated genes

About this section

Publications for Crigler Najjar Syndrome, Type 2

About this section

Articles related to Crigler Najjar Syndrome, Type 2:

idTitleAuthorsYear
1
Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation. (23162302)
2012
2
UGT1A1 genotype in a white boy with Crigler-Najjar syndrome type 2. (22722682)
2012
3
Crigler-Najjar syndrome type 2. (17098698)
2006
4
Hepatobiliary imaging in Crigler-Najjar syndrome type 2. (9814573)
1998
5
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. (8276413)
1993

Variations for Crigler Najjar Syndrome, Type 2

About this section

UniProtKB/Swiss-Prot genetic disease variations for Crigler Najjar Syndrome, Type 2:

63 (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 2:

7
id Gene Name 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 2

About this section
Expression patterns in normal tissues for genes affiliated with Crigler Najjar Syndrome, Type 2

Search GEO for disease gene expression data for Crigler Najjar Syndrome, Type 2.

Pathways for genes affiliated with Crigler Najjar Syndrome, Type 2

About this section

Pathways related to Crigler Najjar Syndrome, Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1UGT1A1, UGT1A4
2
Show member pathways
9.1UGT1A1, UGT1A4
3
Show member pathways
9.1UGT1A1, UGT1A4
4
Show member pathways
9.1UGT1A1, UGT1A4
5
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism37
9.1UGT1A4, UGT1A1
6
Show member pathways
9.1UGT1A1, UGT1A4
7
Show member pathways
9.1UGT1A1, UGT1A4
8
Show member pathways
tetrapyrrole biosynthesis37
heme degradation37
Heme Biosynthesis37
heme biosynthesis37
heme biosynthesis from uroporphyrinogen-III I37
9.1UGT1A1, UGT1A4
99.1UGT1A1, UGT1A4

Compounds for genes affiliated with Crigler Najjar Syndrome, Type 2

About this section
Sources:
44Novoseek, 25HMDB, 50PharmGKB, 12DrugBank
See all sources

Compounds related to Crigler Najjar Syndrome, Type 2 according to GeneCards/GeneDecks:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1n-acetylbenzidine449.6UGT1A1, UGT1A4
2n-hydroxy phip449.6UGT1A4, UGT1A1
3ethyl glucuronide44 2510.6UGT1A4, UGT1A1
4lamotrigine44 50 1211.6UGT1A1, UGT1A4
5glucuronide449.6UGT1A1, UGT1A4
6eltrombopag50 1210.6UGT1A4, UGT1A1
7benzidine449.6UGT1A4, UGT1A1
8Estriol-16-Glucuronide259.6UGT1A1, UGT1A4
9Estriol-17-glucuronide259.6UGT1A1, UGT1A4
10Estriol-3-glucuronide259.6UGT1A1, UGT1A4
11Estrone glucuronide259.6UGT1A1, UGT1A4
12Etiocholanolone glucuronide259.6UGT1A1, UGT1A4
13Estriol 3-sulfate 16-glucuronide259.6UGT1A4, UGT1A1
14Cholesterol glucuronide259.5UGT1A4, UGT1A1
15Deoxycholic acid 3-glucuronide259.5UGT1A1, UGT1A4
16Dextrorphan O-glucuronide259.5UGT1A1, UGT1A4
17Dopamine glucuronide259.5UGT1A1, UGT1A4
18Epinephrine glucuronide259.5UGT1A1, UGT1A4
19Glycochenodeoxycholic acid 3-glucuronide259.5UGT1A1, UGT1A4
20Retinyl beta-glucuronide259.5UGT1A4, UGT1A1
21Testosterone glucuronide259.5UGT1A1, UGT1A4
22Tetrahydroaldosterone-3-glucuronide259.5UGT1A1, UGT1A4
23Thyroxine glucuronide259.5UGT1A1, UGT1A4
24trans-3-Hydroxycotinine glucuronide259.5UGT1A1, UGT1A4
25Retinoyl b-glucuronide259.5UGT1A4, UGT1A1
26Octanoylglucuronide259.5UGT1A1, UGT1A4
27Palmitoyl glucuronide259.5UGT1A1, UGT1A4
28Phenethylamine glucuronide259.5UGT1A1, UGT1A4
29Pregnanediol-3-glucuronide259.5UGT1A1, UGT1A4
3011-beta-hydroxyandrosterone-3-glucuronide259.5UGT1A1, UGT1A4
3117-beta-estradiol glucuronide259.5UGT1A1, UGT1A4
3217-beta-estradiol-3-glucuronide259.5UGT1A1, UGT1A4
3317-hydroxyandrostane-3-glucuronide259.5UGT1A1, UGT1A4
342-Methoxy-estradiol-17b 3-glucuronide259.4UGT1A1, UGT1A4
3517-alpha-estradiol-3-glucuronide259.4UGT1A4, UGT1A1
3616-alpha,17-beta-estriol 17-beta-D-glucuronide259.4UGT1A4, UGT1A1
3711-Hydroxyprogesterone 11-glucuronide259.4UGT1A1, UGT1A4
3811-Oxo-androsterone glucuronide259.4UGT1A1, UGT1A4
3915-hydroxynorandrostene-3,17-dione glucuronide259.4UGT1A1, UGT1A4
402-Methoxyestrone 3-glucuronide259.4UGT1A1, UGT1A4
413-alpha-hydroxy-5-alpha-androstane-17-one 3-D-glucuronide259.4UGT1A1, UGT1A4
426-Hydroxy-5-methoxyindole glucuronide259.3UGT1A1, UGT1A4
43Benzoyl glucuronide (Benzoic acid)259.3UGT1A1, UGT1A4
44Bilirubin glucuronide259.3UGT1A1, UGT1A4
45Cholestane-3,7,12,25-tetrol-3-glucuronide259.2UGT1A1, UGT1A4
466-Dehydrotestosterone glucuronide259.2UGT1A4, UGT1A1
475-Hydroxy-6-methoxyindole glucuronide259.1UGT1A4, UGT1A1
485-alpha-Dihydrotestosterone glucuronide259.1UGT1A1, UGT1A4
493-Methoxy-4-hydroxyphenylglycol glucuronide259.0UGT1A1, UGT1A4
504-Hydroxyandrostenedione glucuronide258.8UGT1A1, UGT1A4

GO Terms for genes affiliated with Crigler Najjar Syndrome, Type 2

About this section

Cellular components related to Crigler Najjar Syndrome, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057899.1UGT1A1, UGT1A4

Biological processes related to Crigler Najjar Syndrome, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1xenobiotic metabolic processGO:0068059.1UGT1A1, UGT1A4
2cellular glucuronidationGO:0526958.8UGT1A1, UGT1A4

Molecular functions related to Crigler Najjar Syndrome, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:0019729.2UGT1A1, UGT1A4
2glucuronosyltransferase activityGO:0150209.1UGT1A1, UGT1A4
3protein homodimerization activityGO:0428039.1UGT1A1, UGT1A4
4enzyme bindingGO:0198999.0UGT1A4, UGT1A1
5protein heterodimerization activityGO:0469828.8UGT1A1, UGT1A4

Products for genes affiliated with Crigler Najjar Syndrome, Type 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Crigler Najjar Syndrome, Type 2

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet