MCID: CRG003
MIFTS: 58

Crigler-Najjar Syndrome, Type I malady

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

Aliases & Classifications for Crigler-Najjar Syndrome, Type I

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 35LifeMap Discovery®, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Crigler-Najjar Syndrome, Type I 52 11 48 24 12 35
Crigler-Najjar Syndrome 35 11 24 25 54 50 39 13
Crigler Najjar Syndrome 11 25 27
Hereditary Unconjugated Hyperbilirubinemia 25 54
Crigler Najjar Syndrome, Type 1 48 68
Crigler-Najjar Syndrome Type I 70 27
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 54
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency 54
Familial Nonhemolytic Unconjugated Hyperbilirubinemia 25
Hereditary Unconjugated Hyperbilirubinemia Type 1 54
 
Bilirubin Udp Glucuronyl Transferase Deficiency 11
Bilirubin-Ugt Deficiency Type 1 54
Crigler-Najjar Syndrome Type 1 54
Crigler-Najjar Syndrome 1 70
Bilirubin-Ugt Deficiency 54
Ugt Deficiency Type 1 54
Ugt Deficiency 54
Cn-I 70
Cn1 70

Characteristics:

Orphanet epidemiological data:

54
crigler-najjar syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
crigler-najjar syndrome, type i:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 218800
Disease Ontology11 DOID:3803
ICD1030 E80.5
MeSH39 D003414
NCIt45 C84656
ICD10 via Orphanet31 E80.5
MESH via Orphanet40 D003414, C536212
UMLS via Orphanet69 C0010324, C2931131
MedGen37 C0010324

Summaries for Crigler-Najjar Syndrome, Type I

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NIH Rare Diseases:48 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 gilbert syndrome, 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 Family 1 Member A1), and among its related pathways are Statin Pathway - Generalized, Pharmacokinetics and Nicotine Pathway, Pharmacokinetics. Affiliated tissues include liver and brain.

Disease Ontology:11 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:25 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:70 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:71 Crigler–Najjar syndrome or CNS is a rare inherited disorder affecting the metabolism of bilirubin, a... more...

Description from OMIM:52 218800

Related Diseases for Crigler-Najjar Syndrome, Type I

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



Diseases related to crigler-najjar syndrome, type i

Symptoms & Phenotypes for Crigler-Najjar Syndrome, Type I

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Symptoms by clinical synopsis from OMIM:

218800

Clinical features from OMIM:

218800

Human phenotypes related to Crigler-Najjar Syndrome, Type I:

 64 54 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the liver64 54 hallmark (90%) Very frequent (99-80%) HP:0001392
2 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
3 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
4 ophthalmoparesis64 54 occasional (7.5%) Occasional (29-5%) HP:0000597
5 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
6 memory impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0002354
7 vertigo64 54 occasional (7.5%) Occasional (29-5%) HP:0002321
8 encephalitis64 54 occasional (7.5%) Occasional (29-5%) HP:0002383
9 reduced consciousness/confusion64 occasional (7.5%) HP:0004372
10 jaundice64 54 Very frequent (99-80%) HP:0000952
11 encephalopathy64 HP:0001298
12 kernicterus64 54 Very frequent (99-80%) HP:0001343
13 unconjugated hyperbilirubinemia64 54 Very frequent (99-80%) HP:0008282
14 lethargy54 Occasional (29-5%)
15 cognitive impairment54 Occasional (29-5%)
16 delayed speech and language development54 Occasional (29-5%)
17 biliary tract abnormality54 Very frequent (99-80%)
18 intellectual disability54 Occasional (29-5%)
19 tremor54 Occasional (29-5%)
20 neonatal hyperbilirubinemia54 Very frequent (99-80%)
21 prolonged neonatal jaundice54 Very frequent (99-80%)
22 infantile muscular hypotonia54 Very frequent (99-80%)
23 oculomotor nerve palsy54 Occasional (29-5%)

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):

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver ExtractsPhase 1, Phase 23868
2
OrnithineNutraceuticalPhase 1693184-13-26262, 389
Synonyms:
(+)-S-Ornithine
(+/-)-2,5-Diaminopentanoic acid monohydrochloride
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
(S)-a,D-Diaminovaleric acid
2,5-Diaminopentanoic acid hydrochloride
5-Amino-L-Norvaline
D -2,5-Diaminopentanoic acid
D-Ornithine
DL -2,5-Diaminopentanoic acid
DL-ornithine
DL-ornithine HCL
DL-ornithine monohydrochloride
DL-ornithine, hydrochloride
 
L -2,5-Diaminopentanoic acid
L-(-)-Ornithine
L-Ornithine
L-Ornithine hydrochloride
L-Ornithine hydrochloride (van)
L-Ornithine monohydrochloride
L-Ornithine, monohydrochloride
L-Ornithine-carboxy-14C hydrochloride
MonohydrochlorideDL-Ornithine
Monohydrochloridel-Ornithine
Ornithine DL-form HCL
Ornithine DL-form monohydrochloride
Ornithine hydrochloride
Ornithine hydrochloride (van)
Ornithine monohydrochloride
Ornithine, hydrochloride (1:1)
Ornithine, monohydrochloride
Poly-L-ornithine hydrochloride
3
Acetylcholineapproved77651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
4
Orlistatapproved, investigational5296829-58-23034010
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
5Neurotransmitter Agents17734
6onabotulinumtoxinA626
7Peripheral Nervous System Agents22776
8Neuromuscular Agents1129
9incobotulinumtoxinA635
10abobotulinumtoxinA626
11Cholinergic Agents3846
12Botulinum Toxins669
13Botulinum Toxins, Type A630
14
Bilirubin112635-65-45280352
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
15Anti-Obesity Agents411

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 DisordersSuspendedNCT01345578Phase 1
4New Phototherapy Device to Treat Patients With Crigler-Najjar DiseaseUnknown statusNCT02356978
5Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani SyndromeUnknown statusNCT00564707
6Orlistat Treatment of Crigler-Najjar DiseaseCompletedNCT00461799
7Immunity Against AAV in Crigler Najjar PatientRecruitingNCT02302690
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
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 Syndrome27 24 UGT1A1
2 Crigler Najjar Syndrome, Type 127
3 Crigler-Najjar Syndrome, Type I24

Anatomical Context for Crigler-Najjar Syndrome, Type I

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

36
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

Publications for Crigler-Najjar Syndrome, Type I

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Articles related to Crigler-Najjar Syndrome, Type I:

(show all 42)
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 Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family. (26697581)
2015
3
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
4
Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect. (24341141)
2013
5
Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature. (24217087)
2013
6
Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer. (22094718)
2012
7
Orthodontic treatment of a child with Crigler-Najjar syndrome type I using tacrolimus following liver transplantation. (22414515)
2012
8
Liver transplantation in Crigler-Najjar syndrome type I disease. (23060403)
2012
9
Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I. (19217809)
2009
10
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I. (18376249)
2008
11
Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives. (18567072)
2008
12
Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia. (18281749)
2007
13
A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation]. (16026101)
2005
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
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
17
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
18
Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP). (12378576)
2002
19
Management of Crigler-Najjar Syndrome type I. (11426237)
2001
20
Auxiliary partial orthotopic liver transplantation for Crigler-Najjar syndrome type I. (10203091)
1999
21
Correction of the UDP-glucuronosyltransferase gene defect in the gunn rat model of crigler-najjar syndrome type I with a chimeric oligonucleotide. (10468611)
1999
22
Neurologic perspectives of Crigler-Najjar syndrome type I. (9660509)
1998
23
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation. (9580649)
1998
24
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. (9039987)
1997
25
A neurophysiological study in children and adolescents with Crigler-Najjar syndrome type I. (9413009)
1997
26
Improvements in long term phototherapy for patients with Crigler-Najjar syndrome type I. (8938045)
1996
27
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
28
Glucuronidation of diflunisal, (-)-morphine, 4-nitrophenol, and propofol in liver microsomes of two patients with Crigler-Najjar syndrome type I. (8743402)
1996
29
Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase. (8527799)
1995
30
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
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
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases. (7989045)
1994
33
Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis. (8102509)
1993
34
Crigler-Najjar syndrome type I: management with phototherapy crib mattress. (8259886)
1993
35
Genetic defect of the hyperbilirubinemic Gunn rat, a model for Crigler-Najjar syndrome type I]. (8096554)
1993
36
Mechanisms of inherited deficiencies of multiple UDP- glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. (1634050)
1992
37
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
38
Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I. (2108190)
1990
39
Multiple plasma exchanges successfully maintain a young adult patient with Crigler-Najjar syndrome type I. (2777735)
1989
40
Crigler-Najjar syndrome type I: treatment by home phototherapy followed by orthotopic hepatic transplantation. (3546653)
1987
41
Crigler-Najjar syndrome types I and II. Clinical experience--King's College Hospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation. (3306242)
1987
42
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:

70 (show all 22)
id Symbol AA change Variation ID SNP ID
1UGT1A1p.Cys177ArgVAR_007697rs72551342
2UGT1A1p.Gly276ArgVAR_007699rs72551345
3UGT1A1p.Ala292ValVAR_007700
4UGT1A1p.Gly308GluVAR_007701rs62625011
5UGT1A1p.Gln357ArgVAR_007703rs72551351
6UGT1A1p.Ala368ThrVAR_007704rs72551352
7UGT1A1p.Ser375PheVAR_007705rs72551353
8UGT1A1p.Ser381ArgVAR_007706rs72551354
9UGT1A1p.Ala401ProVAR_007707rs72551355
10UGT1A1p.Lys428GluVAR_007708rs72551356
11UGT1A1p.His39AspVAR_026135rs72551339
12UGT1A1p.Glu291ValVAR_026138
13UGT1A1p.Arg336LeuVAR_026140
14UGT1A1p.Arg336GlnVAR_026141rs750453538
15UGT1A1p.His376ArgVAR_026144
16UGT1A1p.Gly377ValVAR_026145
17UGT1A1p.Pro387SerVAR_026146
18UGT1A1p.Gly395ValVAR_026147rs367897068
19UGT1A1p.Trp461ArgVAR_026149
20UGT1A1p.Lys402ThrVAR_064960
21UGT1A1p.Asp36AsnVAR_071402
22UGT1A4p.Ser376PheVAR_007711rs72551353

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

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1UGT1A1NM_000463.2(UGT1A1): c.877_890delTACATTAATGCTTCinsA (p.Tyr293Metfs)indelPathogenicrs587776761GRCh37Chr 2, 234675692: 234675705
2UGT1A1NM_000463.2(UGT1A1): c.1124C> T (p.Ser375Phe)SNVPathogenicrs72551353GRCh37Chr 2, 234676905: 234676905
3UGT1A1NM_000463.2(UGT1A1): c.991C> T (p.Gln331Ter)SNVPathogenicrs111033539GRCh37Chr 2, 234675806: 234675806
4UGT1A1NM_000463.2(UGT1A1): c.1021C> T (p.Arg341Ter)SNVPathogenicrs72551349GRCh37Chr 2, 234676519: 234676519
5UGT1A1NM_000463.2(UGT1A1): c.513_515delCTT (p.Phe171del)deletionPathogenicrs587776762GRCh37Chr 2, 234669446: 234669448
6UGT1A1NM_000463.2(UGT1A1): c.923G> A (p.Gly308Glu)SNVPathogenicrs62625011GRCh37Chr 2, 234675738: 234675738
7UGT1A1NM_000463.2(UGT1A1): c.840C> A (p.Cys280Ter)SNVPathogenicrs281865418GRCh37Chr 2, 234669773: 234669773
8UGT1A1NM_000463.2(UGT1A1): c.474_475insT (p.Ile159Tyrfs)insertionPathogenicrs587776763GRCh37Chr 2, 234669407: 234669408
9UGT1A1NM_000463.2(UGT1A1): c.864+1G> CSNVPathogenicrs587776764GRCh37Chr 2, 234669798: 234669798
10UGT1A1NM_000463.2(UGT1A1): c.145C> T (p.Gln49Ter)SNVPathogenicrs587776765GRCh37Chr 2, 234669078: 234669078
11UGT1A1NM_000463.2(UGT1A1): c.1085-2A> GSNVPathogenicrs587776766GRCh37Chr 2, 234676864: 234676864
12UGT1A1NM_000463.2(UGT1A1): c.1070A> G (p.Gln357Arg)SNVPathogenicrs72551351GRCh37Chr 2, 234676568: 234676568
13UGT1A1NM_000463.2(UGT1A1): c.353dupA (p.Asp119Glyfs)duplicationLikely pathogenicrs886039771GRCh38Chr 2, 233760640: 233760640
14UGT1A1NM_000463.2(UGT1A1): c.1069C> T (p.Gln357Ter)SNVPathogenicrs72551350GRCh37Chr 2, 234676567: 234676567

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:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8UGT1A1, UGT1A9
2
Show member pathways
9.8UGT1A4, UGT1A9
39.4UGT1A4, UGT1A6, UGT1A9
4
Show member pathways
9.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
59.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
6
Show member pathways
9.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
7
Show member pathways
9.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
8
Show member pathways
9.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
9
Show member pathways
6.8CNDP2, NT5C1A, NT5C2, OTC, UGT1A1, UGT1A4

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 reticulumGO:00057839.2SLC35A2, UGT1A1, UGT1A4, UGT1A6, UGT1A9
2endoplasmic reticulum membraneGO:00057899.1UGT1A1, UGT1A4, UGT1A6, UGT1A9

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1bilirubin conjugationGO:000678910.5UGT1A1, UGT1A4
2heme catabolic processGO:004216710.4UGT1A1, UGT1A4
3flavone metabolic processGO:005155210.4UGT1A1, UGT1A9
4retinoic acid metabolic processGO:004257310.3UGT1A1, UGT1A9
5flavonoid biosynthetic processGO:000981310.1UGT1A1, UGT1A4, UGT1A6
6drug metabolic processGO:00171449.9NT5C2, UGT1A1
7adenosine metabolic processGO:00460859.8NT5C1A, NT5C2
8cellular glucuronidationGO:00526959.8UGT1A1, UGT1A4, UGT1A6, UGT1A9
9xenobiotic metabolic processGO:00068059.8UGT1A6, UGT1A9
10dephosphorylationGO:00163119.7NT5C1A, NT5C2
11flavonoid glucuronidationGO:00526969.7UGT1A1, UGT1A4, UGT1A6, UGT1A9
12purine nucleotide catabolic processGO:00061959.7NT5C1A, NT5C2
13xenobiotic glucuronidationGO:00526979.6UGT1A1, UGT1A4, UGT1A6, UGT1A9

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

idNameGO IDScoreTop Affiliating Genes
1glucuronosyltransferase activityGO:00150209.8UGT1A1, UGT1A4, UGT1A6, UGT1A9
25-nucleotidase activityGO:00082539.8NT5C1A, NT5C2
3protein heterodimerization activityGO:00469829.8UGT1A1, UGT1A4, UGT1A6, UGT1A9
4protein homodimerization activityGO:00428039.5UGT1A1, UGT1A4, UGT1A6, UGT1A9
5retinoic acid bindingGO:00019729.1UGT1A1, UGT1A4, UGT1A6, UGT1A9

Sources for Crigler-Najjar Syndrome, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet