MCID: CRG003
MIFTS: 57

Crigler-Najjar Syndrome, Type I malady

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

Aliases & Classifications for Crigler-Najjar Syndrome, Type I

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 32LifeMap Discovery®, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

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

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

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
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
crigler-najjar syndrome, type i:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 218800
Disease Ontology10 DOID:3803
ICD1027 E80.5
MeSH36 D003414
NCIt42 C84656
Orphanet51 205, 79234
ICD10 via Orphanet28 E80.5
MESH via Orphanet37 D003414, C536212
UMLS via Orphanet66 C0010324, C2931131
MedGen34 C0010324
UMLS65 C0010324

Summaries for Crigler-Najjar Syndrome, Type I

About this section
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 gilbert syndrome, and has symptoms including abnormality of the liver, muscular hypotonia and memory 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 and Statin Pathway - Generalized, Pharmacokinetics. Affiliated tissues include liver, brain and thyroid.

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 56)
idRelated DiseaseScoreTop Affiliating Genes
1crigler-najjar syndrome, type ii30.5UGT1A, UGT1A1, UGT1A4, UGT1A6, UGT1A9
2gilbert syndrome11.0
3olfactory nerve disease10.5
4rheumatoid arthritis10.4
5systemic lupus erythematosus10.4
6hiv-110.4
7hepatocellular carcinoma10.4
8cystic fibrosis10.4
9episodic ataxia, type 210.4
10arthritis10.4
11spinal stenosis10.4
12tick-borne encephalitis10.4
13lymphoma10.4
14short bowel syndrome10.4
15diarrhea10.4
16obstructive jaundice10.4
17shoulder impingement syndrome10.4
18prostatitis10.4
19cheilitis10.4
20diabetic ketoacidosis10.4
21spondylosis10.4
22prostate adenocarcinoma10.4
23adenocarcinoma10.4
24acinar cell carcinoma10.4
25teratoma10.4
26scrapie10.4
27lupus erythematosus10.4
28encephalitis10.4
29episodic ataxia10.4
30actinic cheilitis10.4
31glomerular disease10.4
32malignant germ cell tumor10.4
33perilymphatic fistula10.4
34recurrent respiratory papillomatosis10.4
35ataxia10.4
36whiplash10.4
37growing teratoma syndrome10.4
38pancreas disease10.4
39coronary artery disease10.4
40aniridia10.4
41retinoblastoma10.4
42b-cell lymphomas10.4
43atrial fibrillation10.4
44efavirenz toxicity10.2UGT1A, UGT1A1
45corneal disease10.1UGT1A1, UGT1A6
46dihydropyrimidine dehydrogenase deficiency10.1UGT1A1, UGT1A6
47gastric small cell carcinoma10.1UGT1A1, UGT1A6
48endometrial adenocarcinoma10.0UGT1A1, UGT1A6
49neonatal jaundice10.0UGT1A1, UGT1A4, UGT1A9
50thalassemia-beta, dominant inclusion-body9.9UGT1A1, 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 13)
id Description Frequency HPO Source Accession
1 abnormality of the liver hallmark (90%) HP:0001392
2 muscular hypotonia typical (50%) HP:0001252
3 memory impairment occasional (7.5%) HP:0002354
4 seizures occasional (7.5%) HP:0001250
5 ophthalmoparesis occasional (7.5%) HP:0000597
6 hearing impairment occasional (7.5%) HP:0000365
7 vertigo occasional (7.5%) HP:0002321
8 encephalitis occasional (7.5%) HP:0002383
9 reduced consciousness/confusion occasional (7.5%) HP:0004372
10 unconjugated hyperbilirubinemia HP:0008282
11 kernicterus HP:0001343
12 encephalopathy HP:0001298
13 jaundice HP:0000952

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 23572
2
Ornithineapproved, nutraceuticalPhase 16370-26-86262
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
3
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
4
Acetylcholineexperimental68951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
5Anti-Obesity Agents354
6
Bilirubin103635-65-45280352
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
7Neurotransmitter Agents14795
8OnabotulinumtoxinA588
9Peripheral Nervous System Agents18510
10Neuromuscular Agents922
11Botulinum Toxins616
12AbobotulinumtoxinA588
13Botulinum Toxins, Type A588
14Cholinergic Agents3243
15IncobotulinumtoxinA599

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
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 UGT1A1
2 Crigler-Najjar Syndrome, Type I22

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, Thyroid, Lung, Endothelial

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
Middle aortic syndrome in Takayasu's Arteritis: Report of two surgical cases. (27174347)
2016
2
Treatment of Acute Painful Thyroiditis with Low Dose Prednisolone: A Study on Patients from Western Nepal. (26500930)
2015
3
Post-mortem CT scan with contrast injection and chest compression to diagnose pulmonary embolism. (25351895)
2014
4
A rare tumor of the lung: pulmonary sclerosing hemangioma (pneumocytoma). (23290153)
2013
5
Dacarbazine in solitary fibrous tumor: a case series analysis and preclinical evidence vis-a-vis temozolomide and antiangiogenics. (23888069)
2013
6
Hepatitis C virus resistance to new specifically-targeted antiviral therapy: A public health perspective. (24175225)
2013
7
Chyluria: a mimicker of nephrotic syndrome. (23396022)
2012
8
Renal cell carcinoma with concurrent urothelial carcinoma of urinary bladder and non-Hodgkin lymphoma. (23213971)
2012
9
Autonomic symptoms are common and are associated with overall symptom burden and disease activity in primary Sjogren's syndrome. (22562982)
2012
10
Dopamine I^-hydroxylase gene associates with stroop color-word task performance in Han Chinese children with attention deficit/hyperactivity disorder. (21761554)
2011
11
PARIS (ZNF746) repression of PGC-1alpha contributes to neurodegeneration in Parkinson's disease. (21376232)
2011
12
Outcome of expectant management of cervical intraepithelial neoplasia grade 2 in women followed for 12 months. (21193261)
2011
13
Advanced glycation end products inhibit Na+ K+ ATPase in proximal tubule epithelial cells: role of cytosolic phospholipase A2alpha and phosphatidylinositol 4-phosphate 5-kinase gamma. (20435073)
2010
14
Alphavbeta3/alphavbeta5 integrins-FAK-RhoB: a novel pathway for hypoxia regulation in glioblastoma. (19351861)
2009
15
Hypoxia induces chemoresistance in ovarian cancer cells by activation of signal transducer and activator of transcription 3. (19623660)
2009
16
The effect of retroviral vector on uptake of human lactoferrin DNA by Yak (Bos Grunniens) spermatozoa and their fertilizability in vitro. (19937500)
2009
17
A modified ELISA for improved detection of IgA, IgG, and IgM anti-tissue transglutaminase antibodies in celiac disease. (19408348)
2009
18
Relation of demographic, clinic and biochemical parameters to peritonitis in peritoneal dialysis. (18336516)
2008
19
The consequences of lysosomotropism on the design of selective cathepsin K inhibitors. (16921579)
2006
20
Use of a coronary sinus lead and biventricular ICD to correct a sensing abnormality in a patient with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (16643408)
2006
21
Root resorption associated with orthodontic force in inbred mice: genetic contributions. (16373453)
2006
22
High selective expression of alpha7 nicotinic receptors on astrocytes in the brains of patients with sporadic Alzheimer's disease and patients carrying Swedish APP 670/671 mutation: a possible association with neuritic plaques. (15698636)
2005
23
Cytochrome P450 epoxygenases 2C8 and 2C9 are implicated in hypoxia-induced endothelial cell migration and angiogenesis. (16291720)
2005
24
An autopsy case of isolated eosinophilic coronary periarteritis: a limited form of Churg-Strauss syndrome or a new entity? (16020884)
2005
25
Multifocal myelitis in BehAset's disease. (12578943)
2003
26
Prognostic relevance of early serial C-reactive protein measurements after first ischemic stroke. (12364738)
2002
27
Newcastle Disease Virus (PDQAr): Health Professional Version (26447281)
2002
28
Corneal ectasia after laser in situ keratomileusis. (11566530)
2001
29
New anti-inflammatory treatment strategy in Alzheimer's disease. (10877525)
2000
30
Paresthesia of the mental nerve induced by periapical infection: a case report. (11113821)
2000
31
Diethyl pyrocarbonate inactivates CD39/ecto-ATPDase by modifying His-59. (10825448)
2000
32
Localization of p27 beta 4 binding protein gene (ITGB4BP) to human chromosome region 20q11.2. (10348637)
1998
33
Incidence and clinical epidemiology of necrobacillosis, including Lemierre's syndrome, in Denmark 1990-1995. (9796654)
1998
34
Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency. (9396568)
1997
35
Hypereosinophilic syndrome associated with systemic lupus erythematosus. (9109019)
1997
36
Alport syndrome and diffuse leiomyomatosis with major morbid events presenting at adult age. (9141011)
1997
37
Monoamine oxidase inhibitors. An update on drug interactions. (8713690)
1996
38
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. (8644704)
1996
39
Pseudopelade of Brocq is lichen planopilaris: report of four cases that support this nosology. (8453899)
1993
40
Acute acalculous cholecystitis induced by lysophosphatidylcholine. (3766708)
1986
41

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

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 pathwaysScoreTop Affiliating Genes
1
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
9.0UGT1A1, UGT1A4, UGT1A6, 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
11
Show member pathways
7.7UGT1A1, 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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Biological processes related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cellular glucuronidationGO:005269510.2UGT1A1, UGT1A4
2negative regulation of cellular glucuronidationGO:200103010.0UGT1A1, UGT1A8
3negative regulation of catalytic activityGO:00430869.9UGT1A1, UGT1A8
4porphyrin-containing compound metabolic processGO:00067789.9UGT1A1, UGT1A4
5drug metabolic processGO:00171449.9UGT1A1, UGT1A8
6liver developmentGO:00018899.7OTC, UGT1A1
7flavonoid glucuronidationGO:00526969.4UGT1A10, UGT1A4, UGT1A6
8xenobiotic metabolic processGO:00068059.3UGT1A1, UGT1A4, UGT1A6, UGT1A9
9flavone metabolic processGO:00515528.8UGT1A1, UGT1A10, UGT1A8, UGT1A9
10negative regulation of glucuronosyltransferase activityGO:19042248.1UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9
11metabolic processGO:00081527.7UGT1A1, UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9

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

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:00019728.0UGT1A10, UGT1A4, UGT1A6, UGT1A8, UGT1A9

Sources for Crigler-Najjar Syndrome, Type I

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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