MCID: CRG004
MIFTS: 46

Crigler-Najjar Syndrome, Type Ii malady

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

Aliases & Classifications for Crigler-Najjar Syndrome, Type Ii

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 65UMLS, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Crigler-Najjar Syndrome, Type Ii 49 11 45 22 47
Crigler Najjar Syndrome, Type 2 45 65
Crigler-Najjar Syndrome Type Ii 67 24
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2 51
Hereditary Unconjugated Hyperbilirubinemia Type 2 51
Bilirubin-Ugt Deficiency Type 2 51
 
Crigler-Najjar Syndrome Type 2 51
Crigler-Najjar Syndrome 2 67
Ugt Deficiency Type 2 51
Arias Syndrome 51
Cn-Ii 67
Cn2 67

Characteristics:

Orphanet epidemiological data:

51
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

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


Classifications:



External Ids:

OMIM49 606785
Orphanet51 79235
UMLS via Orphanet66 C0268311, C2931132
ICD10 via Orphanet28 E80.5
MESH via Orphanet37 C536213
UMLS65 C2931132

Summaries for Crigler-Najjar Syndrome, Type Ii

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NIH Rare Diseases:45 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 based summary: Crigler-Najjar Syndrome, Type Ii, also known as crigler najjar syndrome, type 2, is related to gilbert syndrome and breast cancer, and has symptoms including abnormality of the liver, unconjugated hyperbilirubinemia and jaundice. An important gene associated with Crigler-Najjar Syndrome, Type Ii 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 brain, skin and eye.

OMIM:49 The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated... (606785) more...

UniProtKB/Swiss-Prot:67 Crigler-Najjar syndrome 2: Patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant.

Related Diseases for Crigler-Najjar Syndrome, Type Ii

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1gilbert syndrome11.0
2breast cancer10.6
3endotheliitis10.6
4cystic fibrosis10.4
5cutaneous leishmaniasis10.4
6leukemia10.4
7sinusitis10.4
8sarcoma10.4
9phaeohyphomycosis10.4
10olivopontocerebellar atrophy10.4
11acute maxillary sinusitis10.4
12maxillary sinusitis10.4
13vaginitis10.4
14splenic abscess10.4
15monocytic leukemia10.4
16molluscum contagiosum10.4
17leishmaniasis10.4
18babesiosis10.4
19cutaneous larva migrans10.4
20ataxia10.4
21cutaneous pseudolymphoma10.4
22renal dysplasia10.4
23myocardial infarction10.4
24panic disorder10.4
25acute myocardial infarction10.4
26hemophagocytic lymphohistiocytosis10.4
27essential thrombocythemia10.4
28efavirenz toxicity10.1UGT1A, UGT1A1
29mantle cell lymphoma10.0
30lymphoma10.0
31lipodystrophy10.0
32splenic flexure cancer9.9UGT1A1, UGT1A6
33corneal disease9.8UGT1A1, UGT1A6
34dihydropyrimidine dehydrogenase deficiency9.8UGT1A1, UGT1A6
35endometrial adenocarcinoma9.8UGT1A1, UGT1A6
36auditory system disease9.7UGT1A1, UGT1A6
37gastric small cell carcinoma9.7UGT1A1, UGT1A6
38pinta disease9.7UGT1A1, UGT1A6
39neonatal jaundice9.7UGT1A1, UGT1A4, UGT1A9
40thalassemia-beta, dominant inclusion-body9.6UGT1A1, UGT1A6
41bilirubin metabolic disorder9.2UGT1A1, UGT1A4, UGT1A6, UGT1A9
42crigler-najjar syndrome, type ii8.9UGT1A, UGT1A1, UGT1A4, UGT1A6, UGT1A9
43crigler-najjar syndrome, type i8.8UGT1A, UGT1A1, UGT1A4, UGT1A6, UGT1A9

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



Diseases related to crigler-najjar syndrome, type ii

Symptoms for Crigler-Najjar Syndrome, Type Ii

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Symptoms by clinical synopsis from OMIM:

606785

Clinical features from OMIM:

606785

Symptoms:

 51
  • hepatitis/icterus/cholestasis
  • autosomal recessive inheritance

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

id Description Frequency HPO Source Accession
1 abnormality of the liver hallmark (90%) HP:0001392
2 unconjugated hyperbilirubinemia HP:0008282
3 jaundice HP:0000952

Drugs & Therapeutics for Crigler-Najjar Syndrome, Type Ii

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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
2Neurotransmitter Agents14795
3OnabotulinumtoxinA588
4Peripheral Nervous System Agents18510
5Neuromuscular Agents922
6Cholinergic Agents3243
7Botulinum Toxins616
8Botulinum Toxins, Type A588
9AbobotulinumtoxinA588
10IncobotulinumtoxinA599

Interventional clinical trials:

idNameStatusNCT IDPhase
1Gastrointestinal Biopsychosocial Research CenterCompletedNCT00947180Phase 3
2Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani SyndromeRecruitingNCT00564707
3A Study Examining the Use of Vaginal Nifedipine With Pelvic Floor Physical Therapy for Levator Myalgia and Pelvic PainWithdrawnNCT01586286

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

Genetic Tests for Crigler-Najjar Syndrome, Type Ii

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

id Genetic test Affiliating Genes
1 Crigler-Najjar Syndrome, Type Ii22

Anatomical Context for Crigler-Najjar Syndrome, Type Ii

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

33
Brain, Skin, Eye, Liver, Heart, Colon, Breast

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

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Publications for Crigler-Najjar Syndrome, Type Ii

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Articles related to Crigler-Najjar Syndrome, Type Ii:

(show all 30)
idTitleAuthorsYear
1
Long-term effects of tetanus toxoid inoculation on the demography and life expectancy of the Cayo Santiago rhesus macaques. (25230585)
2014
2
2-Aminothiazolones as anti-HIV agents that act as gp120-CD4 inhibitors. (24614386)
2014
3
Chlorogenic acid induced apoptosis and inhibition of proliferation in human acute promyelocytic leukemia HLa8960 cells. (23982123)
2013
4
Combination of general anaesthesia and postoperative epidural analgesia in mitochondrial myopathy. (23993216)
2013
5
Teaching Video NeuroImages: a teenager with a rare movement disorder. (23817523)
2013
6
Targeting IL-11 signaling in colon cancer. (24163267)
2013
7
Angiographic results of indirect and combined bypass surgery for adult moyamoya disease. (23210050)
2012
8
Bendamustine: a review of its use in the management of chronic lymphocytic leukaemia, rituximab-refractory indolent non-Hodgkin's lymphoma and multiple myeloma. (22950536)
2012
9
Severe renal hemorrhage in a pregnant woman complicated with antiphospholipid syndrome: a case report. (21350603)
2011
10
Epigallocatechin-3-gallate (EGCG) downregulates EGF-induced MMP-9 in breast cancer cells: involvement of integrin receptor I+5I^1 in the process. (21170718)
2011
11
Probing the allosteric modulator binding site of GluR2 with thiazide derivatives. (19673491)
2009
12
Predictive value for long term cardiac events by admission B-type natriuretic peptide and pulmonary capillary wedge pressure in patients with chronic heart failure]. (19102857)
2008
13
Losartan in diabetic nephropathy. (15225108)
2004
14
Mediastinal cavernous haemangioma in a patient with Klippel-Trenaunay syndrome. (12554906)
2003
15
p21Waf1/Cip1/Sdi1-induced growth arrest is associated with depletion of mitosis-control proteins and leads to abnormal mitosis and endoreduplication in recovering cells. (10815808)
2000
16
Distribution and severity of bronchiectasis in allergic bronchopulmonary aspergillosis (ABPA). (10724299)
2000
17
Granulomatous nephritis as the first manifestation of Whipple disease. (10627265)
2000
18
In vitro interleukin-13 production by peripheral blood in patients with newly diagnosed insulin-dependent diabetes mellitus and their first degree relatives. (10736103)
2000
19
mRNA levels of membrane-type 1 matrix metalloproteinase (MT1-MMP), MMP-2, and MMP-9 and of their inhibitors TIMP-2 and TIMP-3 in normal thyrocytes and thyroid carcinoma cell lines. (9545106)
1998
20
Lymphotoxin beta receptor triggering induces activation of the nuclear factor kappaB transcription factor in some cell types. (8798772)
1996
21
Detection of glutamic acid decarboxylase (GAD) autoantibodies by indirect immunofluorescence using CHO cells expressing recombinant human GAD65. (8933286)
1996
22
Prophylaxis of intravenous catheter-related thrombophlebitis in cattle. (8890463)
1996
23
Methotrexate and salazosulfapyridine in the long-term treatment of rheumatoid arthritis]. (7482063)
1995
24
Human Chorionic Gonadotrophin (hCG) in the management of recurrent abortion. (1294400)
1992
25
Current therapy of the Lambert-Eaton myasthenic syndrome. (2267294)
1990
26
Ellis Van Creveld syndrome. (2630448)
1989
27
Astrotactin: a novel neuronal cell surface antigen that mediates neuron-astroglial interactions in cerebellar microcultures. (3276720)
1988
28
Characterization of serum neutralization response to the human immunodeficiency virus (HIV). (2441727)
1987
29
Granular cell myoblastoma. (6245475)
1980
30
Familial lipoatrophic diabetes with dominant transmission. A new syndrome. (4362786)
1974

Variations for Crigler-Najjar Syndrome, Type Ii

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

67 (show all 29)
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
25UGT1A1p.Tyr230CysVAR_071403
26UGT1A1p.Arg367CysVAR_071404
27UGT1A4p.Gln332ArgVAR_007710
28UGT1A4p.Leu132ProVAR_009506
29UGT1A4p.Tyr487AspVAR_009507

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

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

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

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

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

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

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4UGT1A1, UGT1A9
2
Show member pathways
9.3UGT1A4, UGT1A9
3
Show member pathways
9.2UGT1A4, UGT1A9
48.5UGT1A4, UGT1A6, UGT1A9
5
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
6
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
7
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
8
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
9
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
10
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
11
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
12
Show member pathways
8.1UGT1A1, UGT1A4, UGT1A6, UGT1A9

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

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular glucuronidationGO:005269510.0UGT1A1, UGT1A4
2flavone metabolic processGO:00515529.9UGT1A1, UGT1A9
3flavonoid glucuronidationGO:00526969.6UGT1A4, UGT1A6
4porphyrin-containing compound metabolic processGO:00067789.6UGT1A1, UGT1A4
5small molecule metabolic processGO:00442819.1UGT1A1, UGT1A4, UGT1A9
6negative regulation of glucuronosyltransferase activityGO:19042248.5UGT1A1, UGT1A4, UGT1A6, UGT1A9
7xenobiotic metabolic processGO:00068058.4UGT1A1, UGT1A4, UGT1A6, UGT1A9
8metabolic processGO:00081528.1UGT1A1, UGT1A4, UGT1A6, UGT1A9

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

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:00019728.5UGT1A4, UGT1A6, UGT1A9

Sources for Crigler-Najjar Syndrome, Type Ii

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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