MCID: CRG002
MIFTS: 52

Crigler Najjar Syndrome, Type 2 malady

Genetic diseases, Rare diseases, Liver diseases categories
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Summaries for Crigler Najjar Syndrome, Type 2

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: 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 troubles of memory/amnesia/hypermnesia, stillbirth/neonatal death and ophthalmoplegia/ophthalmoparesis/oculomotor palsy. 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.

Description from OMIM:47 606785,218800

Aliases & Classifications for Crigler Najjar Syndrome, Type 2

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Sources:
49Orphanet, 62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
crigler-najjar syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

crigler najjar syndrome, type 2 43
crigler-najjar syndrome, type ii 43 20 22 47 45 62
crigler-najjar syndrome 49 62
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 49
bilirubin uridinediphosphate glucuronosyltransferase deficiency 49
hereditary unconjugated hyperbilirubinemia type 2 49
hereditary unconjugated hyperbilirubinemia 49
bilirubin-ugt deficiency type 2 49
crigler-najjar syndrome type 2 49
bilirubin-ugt deficiency 49
ugt deficiency type 2 49
arias syndrome 49
ugt deficiency 49


External Ids:

MESH via Orphanet36 D003414, C536213
ICD10 via Orphanet26 E80.5
SNOMED-CT via Orphanet59 28259009, 68067009
UMLS via Orphanet63 C0010324, C0268311, C2931132

Related Diseases for Crigler Najjar Syndrome, Type 2

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17GeneCards, 18GeneDecks
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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:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1crigler-najjar syndrome31.1UGT1A1, UGT1A4
2gilbert syndrome30.9UGT1A4, UGT1A1
3kernicterus30.9UGT1A1, UGT1A4
4hepatitis10.6
5cholestasis10.5
6intrahepatic cholestasis10.3
7hereditary spherocytosis10.3
8beta thalassemia10.3
9influenza10.3
10neonatal jaundice10.3
11thalassemia10.3
12hemophilia10.3
13congenital nonhemolytic jaundice10.3
14bilirubin metabolic disorder10.0UGT1A1, UGT1A4

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

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

606785

Clinical features from OMIM:

606785,218800

Symptoms:

49 (show all 14)
  • troubles of memory/amnesia/hypermnesia
  • stillbirth/neonatal death
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • functional anomalies of the liver and the biliary tract
  • dizziness
  • hepatitis/icterus/cholestasis
  • autosomal recessive inheritance
  • motor deficit/trouble
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • encephalitis
  • hypotonia
  • hearing loss/hypoacusia/deafness
  • obnubilation/coma/lethargia/desorientation

Drugs & Therapeutics for Crigler Najjar Syndrome, Type 2

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Crigler Najjar Syndrome, Type 2:

id Genetic test Affiliating Genes
1 Crigler-Najjar Syndrome, Type Ii20 22

Anatomical Context for Crigler Najjar Syndrome, Type 2

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33MalaCards
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MalaCards organs/tissues related to Crigler Najjar Syndrome, Type 2:

33
Eye, Brain, Skin, Liver

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

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Publications for Crigler Najjar Syndrome, Type 2

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52PubMed
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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

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Crigler Najjar Syndrome, Type 2:

64 (show all 27)
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
25UGT1A4p.Gln332ArgVAR_007710
26UGT1A4p.Leu132ProVAR_009506
27UGT1A4p.Tyr487AspVAR_009507

Clinvar genetic disease variations for Crigler Najjar Syndrome, Type 2:

1
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*28duplicationPathogenic, associationrs34983651GRCh37Chr 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

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
50PathCards, 30KEGG, 60Thomson Reuters, 51PharmGKB, 38NCBI BioSystems Database, 55Reactome
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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 Metabolism38
9.1UGT1A4, UGT1A1
6
Show member pathways
9.1UGT1A1, UGT1A4
7
Show member pathways
9.1UGT1A1, UGT1A4
8
Show member pathways
tetrapyrrole biosynthesis38
heme degradation38
Heme Biosynthesis38
heme biosynthesis38
heme biosynthesis from uroporphyrinogen-III I38
9.1UGT1A1, UGT1A4
99.1UGT1A1, UGT1A4

Compounds for genes affiliated with Crigler Najjar Syndrome, Type 2

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Sources:
45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank
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Compounds related to Crigler Najjar Syndrome, Type 2 according to GeneCards/GeneDecks:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1n-acetylbenzidine459.6UGT1A1, UGT1A4
2n-hydroxy phip459.6UGT1A4, UGT1A1
3ethyl glucuronide45 2410.6UGT1A4, UGT1A1
4lamotrigine45 51 1111.6UGT1A1, UGT1A4
5glucuronide459.6UGT1A1, UGT1A4
6eltrombopag51 1110.6UGT1A4, UGT1A1
7benzidine459.6UGT1A4, UGT1A1
8Estriol 3-sulfate 16-glucuronide249.6UGT1A1, UGT1A4
9Estriol-16-Glucuronide249.6UGT1A1, UGT1A4
10Estriol-17-glucuronide249.6UGT1A1, UGT1A4
11Estriol-3-glucuronide249.6UGT1A1, UGT1A4
12Estrone glucuronide249.6UGT1A1, UGT1A4
13Epinephrine glucuronide249.6UGT1A4, UGT1A1
14Cholestane-3,7,12,25-tetrol-3-glucuronide249.5UGT1A4, UGT1A1
15Dehydroisoandrosterone 3-glucuronide249.5UGT1A1, UGT1A4
16Deoxycholic acid 3-glucuronide249.5UGT1A1, UGT1A4
17Dextrorphan O-glucuronide249.5UGT1A1, UGT1A4
18Dopamine glucuronide249.5UGT1A1, UGT1A4
19Etiocholanolone glucuronide249.5UGT1A1, UGT1A4
20Retinoyl b-glucuronide249.5UGT1A4, UGT1A1
21Retinyl beta-glucuronide249.5UGT1A1, UGT1A4
22Testosterone glucuronide249.5UGT1A1, UGT1A4
23Tetrahydroaldosterone-3-glucuronide249.5UGT1A1, UGT1A4
24Thyroxine glucuronide249.5UGT1A1, UGT1A4
25Pregnanediol-3-glucuronide249.5UGT1A4, UGT1A1
26Nicotine glucuronide249.5UGT1A1, UGT1A4
27Octanoylglucuronide249.5UGT1A1, UGT1A4
28Palmitoyl glucuronide249.5UGT1A1, UGT1A4
29Phenethylamine glucuronide249.5UGT1A1, UGT1A4
301-Salicylate glucuronide249.5UGT1A1, UGT1A4
3117-alpha-estradiol-3-glucuronide249.5UGT1A1, UGT1A4
3217-beta-estradiol glucuronide249.5UGT1A1, UGT1A4
3317-beta-estradiol-3-glucuronide249.5UGT1A1, UGT1A4
3417-hydroxyandrostane-3-glucuronide249.4UGT1A1, UGT1A4
3516-alpha,17-beta-estriol 17-beta-D-glucuronide249.4UGT1A4, UGT1A1
3615-hydroxynorandrostene-3,17-dione glucuronide249.4UGT1A4, UGT1A1
3711-beta-hydroxyandrosterone-3-glucuronide249.4UGT1A1, UGT1A4
3811-Hydroxyprogesterone 11-glucuronide249.4UGT1A1, UGT1A4
3911-Oxo-androsterone glucuronide249.4UGT1A1, UGT1A4
402-Methoxy-estradiol-17b 3-glucuronide249.4UGT1A1, UGT1A4
413-alpha,20-alpha-dihydroxy-5-beta-pregnane 3-glucuronide249.4UGT1A1, UGT1A4
426-Dehydrotestosterone glucuronide249.3UGT1A1, UGT1A4
436-Hydroxy-5-methoxyindole glucuronide249.3UGT1A1, UGT1A4
44Benzoyl glucuronide (Benzoic acid)249.3UGT1A1, UGT1A4
45Bilirubin glucuronide249.2UGT1A1, UGT1A4
465-Hydroxy-6-methoxyindole glucuronide249.2UGT1A4, UGT1A1
475-alpha-Dihydrotestosterone glucuronide249.1UGT1A4, UGT1A1
484-Hydroxyandrostenedione glucuronide249.1UGT1A1, UGT1A4
493-alpha-hydroxy-5-alpha-androstane-17-one 3-D-glucuronide249.0UGT1A1, UGT1A4
503-Methoxy-4-hydroxyphenylglycol glucuronide248.8UGT1A1, UGT1A4

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

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16Gene Ontology
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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

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  • Antibodies
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Sources for Crigler Najjar Syndrome, Type 2

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet