MCID: CRG002
MIFTS: 42

Crigler Najjar Syndrome, Type 2 malady

Liver, Metabolic categories

Summaries for Crigler Najjar Syndrome, Type 2

Sources:
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 gilbert syndrome and crigler-najjar syndrome, and has symptoms including functional anomalies of the liver and the biliary tract, hepatitis/icterus/cholestasis and autosomal recessive inheritance. An important gene associated with Crigler Najjar Syndrome, Type 2 is UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1), and among its related pathways are AhR pathway and Ifosfamide Pathway, Pharmacokinetics. The compounds udp glucuronic acid and n-hydroxy-n-acetylbenzidine have been mentioned in the context of this disorder. Affiliated tissues include brain and skin.

Description from OMIM:47 606785,218800

Aliases & Classifications for Crigler Najjar Syndrome, Type 2

Sources:
49Orphanet, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Liver, Metabolic


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 61
crigler-najjar syndrome 49 61
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 Orphanet58 28259009, 68067009
UMLS via Orphanet62 C0010324, C0268311, C2931132

Related Diseases for Crigler Najjar Syndrome, Type 2

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Crigler Najjar Syndrome, Type 2:



Diseases related to crigler najjar syndrome, type 2

Clinical Features for Crigler Najjar Syndrome, Type 2

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

606785,218800

Clinical synopsis from OMIM:

606785

Symptoms:

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

Drugs & Therapeutics for Crigler Najjar Syndrome, Type 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Crigler Najjar Syndrome, Type 2

Drug clinical trials:

Search ClinicalTrials for Crigler Najjar Syndrome, Type 2

Search NIH Clinical Center for Crigler Najjar Syndrome, Type 2

Search CenterWatch for Crigler Najjar Syndrome, Type 2

Genetic Tests for Crigler Najjar Syndrome, Type 2

Sources:
20GeneTests, 22GTR
See all sources

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

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

33
Brain, Skin

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

Sources:
28inGenious Targeting Laboratory
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Publications for Crigler Najjar Syndrome, Type 2

Genetic Variations for Crigler Najjar Syndrome, Type 2

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Crigler Najjar Syndrome, Type 2:

63 (show all 27)
id Symbol AA change Variation 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

Expression for genes affiliated with Crigler Najjar Syndrome, Type 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 50PharmGKB, 54Reactome, 12EMD Millipore, 30KEGG
See all sources

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

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4UGT1A6, UGT1A1
2
Hide members
9.2UGT1A9, UGT1A1
3
Hide members
9.2UGT1A1, UGT1A9
4
Hide members
9.1UGT1A4, UGT1A9
59.1UGT1A4, UGT1A9
6
Hide members
9.0UGT1A6, UGT1A9
7
Hide members
8.7UGT1A1, UGT1A4, UGT1A9
88.5UGT1A9, UGT1A4, UGT1A6
9
Hide members
8.1UGT1A1, UGT1A6, UGT1A4, UGT1A9
10
Hide members
8.1UGT1A9, UGT1A4, UGT1A6, UGT1A1
11
Acetaminophen metabolism
Hide members
8.1UGT1A9, UGT1A4, UGT1A6, UGT1A1
12
Hide members
8.1UGT1A1, UGT1A6, UGT1A4, UGT1A9
13
Hide members
8.1UGT1A9, UGT1A4, UGT1A6, UGT1A1
14
Hide members
8.1UGT1A9, UGT1A4, UGT1A6, UGT1A1
15
Hide members
8.1UGT1A1, UGT1A6, UGT1A4, UGT1A9
16
Hide members
8.1UGT1A1, UGT1A6, UGT1A4, UGT1A9

Compounds for genes affiliated with Crigler Najjar Syndrome, Type 2

Sources:
45Novoseek, 29IUPHAR, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 24HMDB, 2BitterDB
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Compounds related to Crigler Najjar Syndrome, Type 2 according to GeneCards/GeneDecks:

(show top 50)    (show all 72)
idCompoundScoreTop Affiliating Genes
1udp glucuronic acid459.5UGT1A6, UGT1A1
2n-hydroxy-n-acetylbenzidine459.4UGT1A9, UGT1A4
3sn38 glucuronide459.3UGT1A1, UGT1A9
46 mercaptopurine459.2GPT, UGT1A1
5flurbiprofen45 29 50 1112.2UGT1A9, UGT1A1
6lamotrigine45 1110.2UGT1A6, UGT1A4, UGT1A1
7zileuton60 45 29 1112.1GPT, UGT1A9
8rifampicin45 29 6011.1UGT1A6, UGT1A1, GPT
9n-acetylbenzidine459.1UGT1A9, UGT1A4, UGT1A1
10Ezogabine 119.0UGT1A9, UGT1A4, UGT1A1
11phip459.0UGT1A1, UGT1A9, UGT1A4
12acetaminophen glucuronide45 2410.0UGT1A9, UGT1A6, UGT1A1
134-methylumbelliferone458.9UGT1A9, UGT1A6, UGT1A1
14mycophenolate mofetil45 50 1110.9UGT1A1, GPT, UGT1A9
151-naphthol458.9UGT1A6, UGT1A1, UGT1A9
16beta-naphthoflavone45 119.9UGT1A1, UGT1A6, UGT1A9
17phenol45 249.9UGT1A1, UGT1A6, UGT1A9
18benzo(a)pyrene458.8UGT1A1, UGT1A6, UGT1A9
19irinotecan45 50 1110.8UGT1A1, UGT1A9, UGT1A6
20n-hydroxy phip458.5UGT1A1, UGT1A9, UGT1A6, UGT1A4
21ethyl glucuronide45 249.5UGT1A9, UGT1A4, UGT1A6, UGT1A1
22glucuronide458.5UGT1A9, UGT1A1, UGT1A4, UGT1A6
23benzidine458.5UGT1A6, UGT1A9, UGT1A4, UGT1A1
24(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)248.5UGT1A6, UGT1A4, UGT1A1, UGT1A9
25bilirubin diglucuronide45 249.5UGT1A6, UGT1A9, UGT1A4, UGT1A1
26etiocholanolone45 249.5UGT1A9, UGT1A6, UGT1A1, UGT1A4
27aldosterone 18-glucuronide45 249.5UGT1A4, UGT1A1, UGT1A6, UGT1A9
28androsterone glucuronide45 249.5UGT1A1, UGT1A9, UGT1A4, UGT1A6
293-alpha-androstanediol glucuronide45 249.5UGT1A1, UGT1A6, UGT1A4, UGT1A9
30cotinine45 249.5UGT1A9, UGT1A4, UGT1A1, UGT1A6
31estriol29 11 2410.5UGT1A9, UGT1A6, UGT1A1, UGT1A4
32p-nitrophenol45 119.5UGT1A4, UGT1A6, UGT1A1, UGT1A9
33uridine diphosphate458.5UGT1A1, UGT1A9, UGT1A4, UGT1A6
34trifluoperazine45 29 1110.4UGT1A6, UGT1A4, UGT1A9, UGT1A1
35propofol45 50 1110.4UGT1A1, UGT1A6, UGT1A4, UGT1A9
36codeine45 50 29 11 2412.4UGT1A9, UGT1A1, UGT1A6, UGT1A4
372-methoxyestradiol45 60 2410.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
38diclofenac45 29 50 1111.4UGT1A4, UGT1A9, UGT1A1, UGT1A6
39imipramine45 50 29 11 2412.4UGT1A6, UGT1A9, UGT1A4, UGT1A1
40uridine45 11 2410.4UGT1A4, UGT1A9, UGT1A1, UGT1A6
41estrone45 29 11 2411.4UGT1A6, UGT1A1, UGT1A9, UGT1A4
42morphine45 50 29 1111.4UGT1A6, UGT1A1, UGT1A4, UGT1A9
43tamoxifen45 50 29 1111.3UGT1A6, UGT1A1, UGT1A9, UGT1A4
44estradiol45 11 2410.3UGT1A6, UGT1A1, UGT1A9, UGT1A4
45testosterone45 60 11 2411.2UGT1A9, UGT1A4, UGT1A6, UGT1A1
46acetaminophen45 2 50 11 2412.0GPT, UGT1A1, UGT1A6, UGT1A4, UGT1A9
47valproic acid45 50 11 2411.0UGT1A6, UGT1A4, GPT, UGT1A1, UGT1A9
48troglitazone45 29 60 1111.0UGT1A6, UGT1A9, UGT1A1, UGT1A4, GPT
49retinoic acid45 249.0UGT1A4, UGT1A9, UGT1A1, UGT1A6
50nicotine45 50 29 1110.9UGT1A9, UGT1A4, UGT1A1, UGT1A6, GPT

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

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.1UGT1A1, UGT1A6, UGT1A4, UGT1A9

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1xenobiotic glucuronidationGO:0526979.3UGT1A9, UGT1A1
2flavonoid glucuronidationGO:0526969.3UGT1A9, UGT1A1
3flavone metabolic processGO:0515529.3UGT1A9, UGT1A1
4retinoic acid metabolic processGO:0425739.2UGT1A1, UGT1A9
5negative regulation of catalytic activityGO:0430869.1UGT1A9, UGT1A1
6cellular glucuronidationGO:0526959.1UGT1A1, UGT1A6, UGT1A4
7metabolic processGO:0081529.0UGT1A6, UGT1A9
8drug metabolic processGO:0171448.9UGT1A1, UGT1A9
9xenobiotic metabolic processGO:0068058.3UGT1A1, UGT1A6, UGT1A4, UGT1A9
10small molecule metabolic processGO:0442817.7UGT1A9, UGT1A4, UGT1A6, UGT1A1, GPT

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

idNameGO IDScoreTop Affiliating Genes
1enzyme inhibitor activityGO:0048579.2UGT1A1, UGT1A9
2retinoic acid bindingGO:0019728.2UGT1A1, UGT1A6, UGT1A4, UGT1A9
3glucuronosyltransferase activityGO:0150208.1UGT1A9, UGT1A4, UGT1A6, UGT1A1
4enzyme bindingGO:0198998.1UGT1A9, UGT1A4, UGT1A6, UGT1A1
5protein heterodimerization activityGO:0469828.0UGT1A1, UGT1A6, UGT1A4, UGT1A9
6protein homodimerization activityGO:0428037.8UGT1A9, UGT1A4, UGT1A6, UGT1A1

Products for genes affiliated with Crigler Najjar Syndrome, Type 2

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Sources for Crigler Najjar Syndrome, Type 2

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet