MCID: CRG003
MIFTS: 58

Crigler-Najjar Syndrome, Type I malady

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

Aliases & Classifications for Crigler-Najjar Syndrome, Type I

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 32LifeMap Discovery®, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 22GeneTests, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

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

Name: Crigler-Najjar Syndrome, Type I 49 10 11 45 32
Crigler-Najjar Syndrome 32 10 23 47 12 51 36
Crigler Najjar Syndrome 10 22 23 24
Crigler Najjar Syndrome, Type 1 45 22 65
Hereditary Unconjugated Hyperbilirubinemia 23 51
Crigler-Najjar Syndrome Type 1 51 24
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 51
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency 51
Familial Nonhemolytic Unconjugated Hyperbilirubinemia 23
Hereditary Unconjugated Hyperbilirubinemia Type 1 51
 
Bilirubin Udp Glucuronyl Transferase Deficiency 10
Bilirubin-Ugt Deficiency Type 1 51
Crigler-Najjar Syndrome Type I 67
Crigler-Najjar Syndrome 1 67
Bilirubin-Ugt Deficiency 51
Ugt Deficiency Type 1 51
Ugt Deficiency 51
Cn-I 67
Cn1 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
crigler-najjar syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy
crigler-najjar syndrome type 1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 218800
Disease Ontology10 DOID:3803
MeSH36 D003414
NCIt42 C84656
Orphanet51 205, 79234
ICD10 via Orphanet28 E80.5
MESH via Orphanet37 D003414, C536212
UMLS via Orphanet66 C0010324, C2931131
ICD1027 E80.5
MedGen34 C0010324

Summaries for Crigler-Najjar Syndrome, Type I

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NIH Rare Diseases:45 Crigler najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. this condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. crigler najjar syndrome, type 1 is caused by mutations in the ugt1a1 gene. the condition is inherited in an autosomal recessive manner. treatment relies on regular phototherapy throughout life. blood transfusions and calcium compounds have also been used. liver transplantation may be considered in some individuals.   last updated: 2/8/2011

MalaCards based summary: Crigler-Najjar Syndrome, Type I, also known as crigler-najjar syndrome, is related to crigler-najjar syndrome, type ii and kernicterus, and has symptoms including abnormality of the liver, muscular hypotonia and hearing impairment. An important gene associated with Crigler-Najjar Syndrome, Type I is UGT1A1 (UDP Glucuronosyltransferase 1 Family, Polypeptide A1), and among its related pathways are and Statin Pathway - Generalized, Pharmacokinetics. Affiliated tissues include liver and brain.

Disease Ontology:10 A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (ugt).

Genetics Home Reference:23 Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).

UniProtKB/Swiss-Prot:67 Crigler-Najjar syndrome 1: Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive.

Wikipedia:68 Crigler–Najjar syndrome or CNS is a rare inherited disorder affecting the metabolism of bilirubin, a... more...

Description from OMIM:49 218800

Related Diseases for Crigler-Najjar Syndrome, Type I

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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 I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1crigler-najjar syndrome, type ii30.2UGT1A, UGT1A1, UGT1A4, UGT1A6, UGT1A9
2kernicterus10.6
3gilbert syndrome10.6
4cholestasis10.5
5encephalopathy10.5
6hepatitis10.4
7adult syndrome10.3
8coronary heart disease 910.3
9coronary heart disease 610.3
10noonan syndrome 110.3
11hemophilia a10.3
12malouf syndrome10.3
13child syndrome10.3
14urea cycle disorder10.3
15glucose-6-phosphate dehydrogenase deficiency10.3
16intrahepatic cholestasis10.3
17hereditary spherocytosis10.3
18metabolic syndrome x10.3
19intermediate coronary syndrome10.3
20amino acid metabolic disorder10.3
21bilirubin metabolic disorder10.3
22central nervous system disease10.3
23influenza10.3
24neonatal jaundice10.3
25prion disease10.3
26genetic brain disorders10.3
27hemophilia10.3
28congenital nonhemolytic jaundice10.3
29inborn amino acid metabolism disorder10.3
30kid syndrome10.3
31cardiomyopathy10.3
32efavirenz toxicity10.1UGT1A, UGT1A1
33goiter10.1UGT1A1, UGT1A6
34lung cancer10.1
35esophageal cancer10.1
36spondylosis10.1
37bronchus carcinoma10.1
38bronchial disease10.1
39bronchial neoplasm10.1
40esophageal disease10.1
41lymph node cancer10.1
42lymph node disease10.1
43mediastinal cancer10.1
44thoracic cancer10.1
45dihydropyrimidine dehydrogenase deficiency10.0UGT1A1, UGT1A6
46sickle cell anemia10.0UGT1A1, UGT1A6
47pineal gland cancer10.0UGT1A1, UGT1A6
48olfactory nerve disease9.9
49binocular vision disease9.9UGT1A1, UGT1A6
50diaphragm disease9.8SLC35A2, UGT1A1, UGT1A6

Graphical network of the top 20 diseases related to Crigler-Najjar Syndrome, Type I:



Diseases related to crigler-najjar syndrome, type i

Symptoms for Crigler-Najjar Syndrome, Type I

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Symptoms by clinical synopsis from OMIM:

218800

Clinical features from OMIM:

218800

Symptoms:

 51 (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

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

(show all 14)
id Description Frequency HPO Source Accession
1 abnormality of the liver hallmark (90%) HP:0001392
2 muscular hypotonia typical (50%) HP:0001252
3 hearing impairment occasional (7.5%) HP:0000365
4 ophthalmoparesis occasional (7.5%) HP:0000597
5 seizures occasional (7.5%) HP:0001250
6 memory impairment occasional (7.5%) HP:0002354
7 vertigo occasional (7.5%) HP:0002321
8 encephalitis occasional (7.5%) HP:0002383
9 reduced consciousness/confusion occasional (7.5%) HP:0004372
10 autosomal recessive inheritance HP:0000007
11 jaundice HP:0000952
12 encephalopathy HP:0001298
13 kernicterus HP:0001343
14 unconjugated hyperbilirubinemia HP:0008282

Drugs & Therapeutics for Crigler-Najjar Syndrome, Type I

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Drugs for Crigler-Najjar Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ornithineapproved, nutraceuticalPhase 13170-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
2
Orlistatapproved, investigational4996829-58-23034010
Synonyms:
(-)-Tetrahydrolipstatin
1-((3-hexyl-4-oxo-2-oxetanyl)methyl)dodecyl-2-formamido-4-methylvalerate
111397-16-1
96829-58-2
AC-19012
AC1MHWQP
Alli
Alli, Xenical, Tetrahydrolipstatin, Orlistat
BIDD:GT0853
C055122
C29H53NO5
CHEMBL175247
CID3034010
CPD000466339
D04028
DB01083
FT-0082584
GlaxoSmithKline brand of orlistat
HMS2051I08
Hoffmann-La Roche brand of orlistat
KS-1183
L-Leucine, N-formyl-, (1S)-1-(((2S,3S)-3-hexyl-4-oxo-2-oxetanyl)methyl)dodecyl ester
L-Leucine,N-formyl-, (1S)-1-(((2S,3S)-3-hexyl-4-oxo-2-oxetanyl)methyl)dodecyl ester
LS-178328
MLS000759448
MLS001423955
 
MLS002207022
MolPort-005-938-035
N-Formyl-L-leucine (1S)-1-[[(2S,3S)-3-hexyl-4-oxo-2-oxetanyl]methyl]dodecyl ester
N-Formyl-L-leucine, ester with (3S,4S)-3-hexyl-4-((2S)-2-hydroxytridecyl)-2-oxetanone
NCGC00165856-01
O4139_SIGMA
Orlipastat
Orlipastatum
Orlipastatum [INN-Latin]
Orlistat (USAN/INN)
Orlistat [USAN:INN]
R-212
Ro 18-0647/002
Ro 18-0647/008
Ro-18-0647
Roche brand of orlistat
S1629_Selleck
SAM001246637
SMR000466339
THLP
Tetrahydrolipstatin
UNII-95M8R751W8
Xenical
Xenical (TN)
[(2S)-1-[(2S,3S)-3-hexyl-4-oxooxetan-2-yl]tridecan-2-yl] (2S)-2-formamido-4-methylpentanoate
nchembio.129-comp24
orlistat
3
Bilirubin95635-65-45280352
Synonyms:
(4Z,15Z)-Bilirubin IXa
(Z,Z)-Bilirubin IXa
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionate
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionic acid
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoate
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoic acid
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoate
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoic acid
 
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-[(Z)-(3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl]-1H-pyrrol-2-yl)methyl)-4-methyl-5-[(Z)-(4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
Bilirubin
Bilirubin IX-alpha
Cholerythrin
Hematoidin
4Botulinum Toxins, Type A561
5Botulinum Toxins590

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN)CompletedNCT01765283Phase 1, Phase 2
2Hepatocyte Transplantation in Liver FailureWithdrawnNCT00805610Phase 1, Phase 2
3Hepatocyte Transplantation for Liver Based Metabolic DisordersRecruitingNCT01345578Phase 1
4Orlistat Treatment of Crigler-Najjar DiseaseCompletedNCT00461799
5Immunity Against AAV in Crigler Najjar PatientRecruitingNCT02302690
6Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani SyndromeRecruitingNCT00564707
7New Phototherapy Device to Treat Patients With Crigler-Najjar DiseaseActive, not recruitingNCT02356978
8Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001)Active, not recruitingNCT02051049

Search NIH Clinical Center for Crigler-Najjar Syndrome, Type I

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Crigler-Najjar Syndrome, Type I cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Crigler-Najjar Syndrome, Type I:
Hepatocyte transplantation for treatment of liver disorders
Hepatocyte transplantation for treatment of liver failure and inherited metabolic diseases
Promethera
Embryonic/Adult Cultured Cells Related to Crigler-Najjar Syndrome, Type I:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636
Hepatocytes
Adult liver progenitor cells, PMIDs: 22525602, 23211283, 19091822, 24142276, 22900053


Cochrane evidence based reviews: Crigler-Najjar Syndrome

Genetic Tests for Crigler-Najjar Syndrome, Type I

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Genetic tests related to Crigler-Najjar Syndrome, Type I:

id Genetic test Affiliating Genes
1 Crigler-Najjar Syndrome22 24 UGT1A1
2 Crigler-Najjar Syndrome, Type I22
3 Crigler Najjar Syndrome, Type 124

Anatomical Context for Crigler-Najjar Syndrome, Type I

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

33
Liver, Brain

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Crigler-Najjar Syndrome, Type I:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

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

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Publications for Crigler-Najjar Syndrome, Type I

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Articles related to Crigler-Najjar Syndrome, Type I:

(show all 41)
idTitleAuthorsYear
1
A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I. (25729974)
2015
2
Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene. (24793765)
2014
3
Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect. (24341141)
2013
4
Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature. (24217087)
2013
5
Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer. (22094718)
2012
6
Liver transplantation in Crigler-Najjar syndrome type I disease. (23060403)
2012
7
Orthodontic treatment of a child with Crigler-Najjar syndrome type I using tacrolimus following liver transplantation. (22414515)
2012
8
Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I. (19217809)
2009
9
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I. (18376249)
2008
10
Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives. (18567072)
2008
11
Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia. (18281749)
2007
12
A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation]. (16026101)
2005
13
Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. (14616765)
2003
14
Removal of protein-bound and unbound unconjugated bilirubin by perfusion of plasma through an anion-exchange resin in a case of Crigler-Najjar syndrome type I. (14503990)
2003
15
Persistant unconjugated hyperbilirubinemia in an infant with crigler-najjar syndrome type I. (14722376)
2003
16
Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene. (11968090)
2002
17
Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP). (12378576)
2002
18
Management of Crigler-Najjar Syndrome type I. (11426237)
2001
19
Auxiliary partial orthotopic liver transplantation for Crigler-Najjar syndrome type I. (10203091)
1999
20
Correction of the UDP-glucuronosyltransferase gene defect in the gunn rat model of crigler-najjar syndrome type I with a chimeric oligonucleotide. (10468611)
1999
21
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation. (9580649)
1998
22
Neurologic perspectives of Crigler-Najjar syndrome type I. (9660509)
1998
23
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. (9039987)
1997
24
A neurophysiological study in children and adolescents with Crigler-Najjar syndrome type I. (9413009)
1997
25
Complete correction of hyperbilirubinemia in the Gunn rat model of Crigler-Najjar syndrome type I following transient in vivo adenovirus-mediated expression of human bilirubin UDP-glucuronosyltransferase. (9156798)
1996
26
Improvements in long term phototherapy for patients with Crigler-Najjar syndrome type I. (8938045)
1996
27
Glucuronidation of diflunisal, (-)-morphine, 4-nitrophenol, and propofol in liver microsomes of two patients with Crigler-Najjar syndrome type I. (8743402)
1996
28
Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase. (8527799)
1995
29
Retrovirus-mediated expression of HUG Br1 in Crigler-Najjar syndrome type I human fibroblasts and correction of the genetic defect in Gunn rat hepatocytes. (7614251)
1995
30
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases. (7989045)
1994
31
A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I. (7936809)
1994
32
Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis. (8102509)
1993
33
Crigler-Najjar syndrome type I: management with phototherapy crib mattress. (8259886)
1993
34
Genetic defect of the hyperbilirubinemic Gunn rat, a model for Crigler-Najjar syndrome type I]. (8096554)
1993
35
Mechanisms of inherited deficiencies of multiple UDP- glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. (1634050)
1992
36
Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I. (1568736)
1992
37
Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I. (2108190)
1990
38
Multiple plasma exchanges successfully maintain a young adult patient with Crigler-Najjar syndrome type I. (2777735)
1989
39
Crigler-Najjar syndrome types I and II. Clinical experience--King's College Hospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation. (3306242)
1987
40
Crigler-Najjar syndrome type I: treatment by home phototherapy followed by orthotopic hepatic transplantation. (3546653)
1987
41
Clinical conference. Crigler-Najjar syndrome (type I) in an adult male. (422012)
1979

Variations for Crigler-Najjar Syndrome, Type I

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

67 (show all 22)
id Symbol AA change Variation ID SNP ID
1UGT1A1p.Cys177ArgVAR_007697
2UGT1A1p.Gly276ArgVAR_007699
3UGT1A1p.Ala292ValVAR_007700
4UGT1A1p.Gly308GluVAR_007701
5UGT1A1p.Gln357ArgVAR_007703
6UGT1A1p.Ala368ThrVAR_007704
7UGT1A1p.Ser375PheVAR_007705
8UGT1A1p.Ser381ArgVAR_007706
9UGT1A1p.Ala401ProVAR_007707
10UGT1A1p.Lys428GluVAR_007708
11UGT1A1p.His39AspVAR_026135
12UGT1A1p.Glu291ValVAR_026138
13UGT1A1p.Arg336LeuVAR_026140
14UGT1A1p.Arg336GlnVAR_026141
15UGT1A1p.His376ArgVAR_026144
16UGT1A1p.Gly377ValVAR_026145
17UGT1A1p.Pro387SerVAR_026146
18UGT1A1p.Gly395ValVAR_026147
19UGT1A1p.Trp461ArgVAR_026149
20UGT1A1p.Lys402ThrVAR_064960
21UGT1A1p.Asp36AsnVAR_071402
22UGT1A4p.Ser376PheVAR_007711

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

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
2UGT1A1*28duplicationPathogenic, drug responsers34983651GRCh37Chr 2, 234668881: 234668882
3NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp)single nucleotide variantPathogenicrs34993780GRCh37Chr 2, 234681059: 234681059
4UGT1A1UGT1A1, 1-BP DEL, 1223AdeletionPathogenic
5NM_000463.2(UGT1A1): c.524T> A (p.Leu175Gln)single nucleotide variantPathogenicrs72551341GRCh37Chr 2, 234669457: 234669457
6NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp)single nucleotide variantPathogenicrs28934877GRCh37Chr 2, 234676979: 234676979
7NM_000463.2(UGT1A1): c.44T> G (p.Leu15Arg)single nucleotide variantPathogenicrs111033541GRCh37Chr 2, 234668977: 234668977

Expression for genes affiliated with Crigler-Najjar Syndrome, Type I

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

Pathways for genes affiliated with Crigler-Najjar Syndrome, Type I

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Pathways related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
AhR pathway (WikiPathways)
Show member pathways
9.8
2
Show member pathways
9.7UGT1A1, UGT1A9
3
Show member pathways
9.7UGT1A4, UGT1A9
4
Show member pathways
9.6UGT1A1, UGT1A8
5
Show member pathways
8.5UGT1A1, UGT1A4, UGT1A6, UGT1A8, UGT1A9
68.0UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
7
Show member pathways
7.7UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
8
Show member pathways
7.7UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
9
Show member pathways
7.7UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
10
Show member pathways
7.7UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
117.7UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
12
Show member pathways
7.7UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
13
Show member pathways
7.7UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
14
Show member pathways
7.2OTC, UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8

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

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Cellular components related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057897.7UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
2endoplasmic reticulumGO:00057836.8SLC35A2, UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1heme catabolic processGO:004216710.4UGT1A1, UGT1A4
2porphyrin-containing compound metabolic processGO:000677810.3UGT1A1, UGT1A4
3negative regulation of steroid metabolic processGO:004593910.2UGT1A1, UGT1A8
4liver developmentGO:000188910.2OTC, UGT1A1
5steroid metabolic processGO:000820210.0UGT1A1, UGT1A8
6retinoic acid metabolic processGO:00425739.7UGT1A1, UGT1A8, UGT1A9
7negative regulation of catalytic activityGO:00430869.6UGT1A1, UGT1A8
8xenobiotic metabolic processGO:00068059.4UGT1A1, UGT1A4, UGT1A6, UGT1A9
9flavone metabolic processGO:00515529.0UGT1A1, UGT1A10, UGT1A8, UGT1A9
10small molecule metabolic processGO:00442818.6OTC, UGT1A1, UGT1A4, UGT1A6, UGT1A9
11flavonoid biosynthetic processGO:00098138.3UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
12negative regulation of fatty acid metabolic processGO:00459228.3UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
13flavonoid glucuronidationGO:00526968.3UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
14xenobiotic glucuronidationGO:00526978.3UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
15negative regulation of glucuronosyltransferase activityGO:19042248.3UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
16negative regulation of cellular glucuronidationGO:20010308.3UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
17cellular glucuronidationGO:00526958.3UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
18cellular response to hormone stimulusGO:00328708.2UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
19drug metabolic processGO:00171448.1UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
20metabolic processGO:00081527.4UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1steroid bindingGO:000549610.0UGT1A1, UGT1A8
2enzyme inhibitor activityGO:00048579.1UGT1A1, UGT1A8, UGT1A9
3transferase activity, transferring hexosyl groupsGO:00167588.2UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
4retinoic acid bindingGO:00019728.1UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
5glucuronosyltransferase activityGO:00150208.0UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
6enzyme bindingGO:00198997.8UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
7protein heterodimerization activityGO:00469827.7UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
8protein homodimerization activityGO:00428037.4UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9

Sources for Crigler-Najjar Syndrome, Type I

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet