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encyclopedia of Rare Disease Annotation for Precision Medicine



   congenital nonhemolytic jaundice
  

Disease ID 647
Disease congenital nonhemolytic jaundice
Definition
A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.
Synonym
arias type hyperbilirubinemia
arias type hyperbilirubinemias
benign unconjugated bilirubinaemia syndrome
benign unconjugated bilirubinemia syndrome
cholaemia familiaris simplex
cholemia familiaris simplex
chronic intermittent juvenile jaundice
congenital familial cholaemia
congenital familial cholemia
constitutional hepatic dysfunction
constitutional hyperbilirubinemia
constitutional liver dysfunction
disease, gilbert
disease, gilbert's
diseases gilbert
familial nonhaemolytic bilirubinaemia
familial nonhaemolytic jaundice
familial nonhemolytic bilirubinemia
familial nonhemolytic jaundice
gilbert dis
gilbert disease
gilbert disease (disorder)
gilbert disease [disease/finding]
gilbert syndrome
gilbert syndromes
gilbert's disease
gilbert's syndrome
gilbert's syndrome (disorder)
gilbert-lereboullet syndrome
gilberts dis
gilberts disease
gilberts syndrome
hblrg
hereditary nonhaemolytic jaundice
hereditary nonhemolytic jaundice
hyperbilirubinemia 1
hyperbilirubinemia 1s
hyperbilirubinemia i
hyperbilirubinemia, arias type
hyperbilirubinemia, chronic unconjugated
hyperbilirubinemia, familial unconjugated
hyperbilirubinemia, gilbert type
hyperbilirubinemias, arias type
jaundice, congenital nonhemolytic
low-grade chronic hyperbilirubinaemia syndrome
low-grade chronic hyperbilirubinemia syndrome
meulengracht syndrome
syndrome gilbert's
syndrome, gilbert
syndrome, gilbert's
unconjugated benign bilirubinemia
OMIM
DOID
ICD10
UMLS
C0017551
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:29)
C0017551  |  gilbert's syndrome  |  4
C0017920  |  g6pd deficiency  |  2
C0037889  |  hereditary spherocytosis  |  2
C0018799  |  heart disease  |  2
C0023418  |  leukemia  |  1
C0018801  |  heart failure  |  1
C0151744  |  ischaemic heart disease  |  1
C0023470  |  myeloid leukemia  |  1
C0042373  |  vascular disease  |  1
C0340968  |  pyruvate kinase deficiency  |  1
C0026266  |  mitral regurgitation  |  1
C0008370  |  cholestasis  |  1
C0035309  |  retinopathy  |  1
C0023473  |  chronic myeloid leukemia  |  1
C0023895  |  liver disease  |  1
C0009324  |  ulcerative colitis  |  1
C0032285  |  pneumoniae  |  1
C0002878  |  haemolytic anaemia  |  1
C0085669  |  acute leukemia  |  1
C0019061  |  hemolytic uremic syndrome  |  1
C0442874  |  neuropathy  |  1
C0014084  |  ollier's disease  |  1
C0002881  |  hereditary haemolytic anaemias  |  1
C0035439  |  rheumatic heart disease  |  1
C0032285  |  pneumonia  |  1
C0007222  |  cardiovascular disease  |  1
C0018995  |  hemochromatosis  |  1
C0003873  |  rheumatoid arthritis  |  1
C0039730  |  thalassemia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
54658  |  UGT1A1  |  CTD_human;GHR;UNIPROT
7361  |  UGT1A  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:4)
54658  |  UGT1A1  |  CIPHER;CTD_human
54577  |  UGT1A7  |  CIPHER
54578  |  UGT1A6  |  CIPHER
7361  |  UGT1A  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:32)
1244  |  ABCC2  |  2.544  |  DISEASES
229  |  ALDOB  |  1.052  |  DISEASES
27237  |  ARHGEF16  |  1.889  |  DISEASES
55748  |  CNDP2  |  3.599  |  DISEASES
1555  |  CYP2B6  |  1.326  |  DISEASES
1565  |  CYP2D6  |  1.092  |  DISEASES
1660  |  DHX9  |  1.23  |  DISEASES
28514  |  DLL1  |  1.375  |  DISEASES
728441  |  GGT2  |  1.809  |  DISEASES
2950  |  GSTP1  |  1.365  |  DISEASES
3043  |  HBB  |  2.49  |  DISEASES
3077  |  HFE  |  1.76  |  DISEASES
3240  |  HP  |  1.981  |  DISEASES
57380  |  MRS2  |  1.602  |  DISEASES
23218  |  NBEAL2  |  1.45  |  DISEASES
9970  |  NR1I3  |  1.108  |  DISEASES
22978  |  NT5C2  |  2.65  |  DISEASES
5225  |  PGC  |  1.23  |  DISEASES
6007  |  RHD  |  1.001  |  DISEASES
866  |  SERPINA6  |  1.139  |  DISEASES
83650  |  SLC35G5  |  2.057  |  DISEASES
338821  |  SLCO1B7  |  3.744  |  DISEASES
51643  |  TMBIM4  |  2.668  |  DISEASES
7150  |  TOP1  |  1.346  |  DISEASES
7360  |  UGP2  |  2.14  |  DISEASES
54575  |  UGT1A10  |  2.826  |  DISEASES
54659  |  UGT1A3  |  4.038  |  DISEASES
54577  |  UGT1A7  |  4.099  |  DISEASES
54576  |  UGT1A8  |  1.861  |  DISEASES
54600  |  UGT1A9  |  2.436  |  DISEASES
7366  |  UGT2B15  |  2.754  |  DISEASES
79971  |  WLS  |  1.553  |  DISEASES
Locus(Waiting for update.)
Disease ID 647
Disease congenital nonhemolytic jaundice
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:2)
HP:0008282  |  Unconjugated hyperbilirubinemia
HP:0000952  |  Yellow skin
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:31)
HP:0002908  |  Conjugated hyperbilirubinemia  |  14
HP:0008282  |  Unconjugated hyperbilirubinemia  |  10
HP:0002904  |  High blood bilirubin levels  |  9
HP:0003265  |  Neonatal hyperbilirubinemia  |  8
HP:0000952  |  Yellow skin  |  3
HP:0100806  |  Sepsis  |  3
HP:0002871  |  Central apnea  |  2
HP:0001396  |  Cholestasis  |  2
HP:0002104  |  Absence of spontaneous respiration  |  2
HP:0001397  |  Hepatic steatosis  |  1
HP:0001909  |  Leukemia  |  1
HP:0001824  |  Weight loss  |  1
HP:0004444  |  Spherocytosis  |  1
HP:0001635  |  Congestive heart failure  |  1
HP:0005506  |  Chronic myeloid leukemia  |  1
HP:0002488  |  Acute leukemias  |  1
HP:0005575  |  Hemolytic-uremic syndrome  |  1
HP:0000488  |  Noninflammatory retina disease  |  1
HP:0003073  |  Hypoalbuminaemia  |  1
HP:0005537  |  Small platelet size  |  1
HP:0003573  |  Increased bilirubin  |  1
HP:0012324  |  Myeloid leukemia  |  1
HP:0000855  |  Insulin resistance  |  1
HP:0001653  |  Mitral valve insufficiency  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0100279  |  Ulcerative colitis  |  1
HP:0002090  |  Pneumonia  |  1
HP:0003256  |  Coagulopathy  |  1
HP:0001878  |  Haemolytic anaemia  |  1
HP:0001541  |  Ascites  |  1
HP:0001298  |  Encephalopathy  |  1
Disease ID 647
Disease congenital nonhemolytic jaundice
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C0221505  |  cerebral lesions
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C0020433  |  hyperbilirubinemia  |  5
C0008370  |  cholestasis  |  1
C0022346  |  jaundice  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:10)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs349937801800420654658UGT1A1umls:C0017551BeFreeUGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and UGT1A1*62 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.0.2950169572007UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A32233772413TA,C,G
rs353509601101344054658UGT1A1umls:C0017551UNIPROTGenetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.0.2950169572000UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A32233760973CA,T
rs353509601800420654658UGT1A1umls:C0017551BeFreeUGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and UGT1A1*62 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.0.2950169572007UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A32233760973CA,T
rs41483231800420654658UGT1A1umls:C0017551BeFreeUGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and UGT1A1*62 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.0.2950169572007UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A32233760498GA
rs41483231621085154658UGT1A1umls:C0017551BeFreeThe objective was to determine the frequencies of the following mutations in the UGT1A1 gene: A(TA)7TAA (the most common cause of Gilbert syndrome in Caucasians), G71R (more common in the Japanese and Taiwanese population), and G493R (described in a homozygous Malay woman with Crigler-Najjar syndrome type 2) in a group of Malaysian babies with hyperbilirubinemia and a group of normal controls.0.2950169572006UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A32233760498GA
rs41483231101344054658UGT1A1umls:C0017551UNIPROTGenetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.0.2950169572000UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A32233760498GA
rs557500871101344054658UGT1A1umls:C0017551UNIPROTGenetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.0.2950169572000UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A32233768234CG,T
rs560599371213957054658UGT1A1umls:C0017551UNIPROTNovel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.0.2950169572002UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A32233760534TA,C
rs560599371800420654658UGT1A1umls:C0017551BeFreeUGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and UGT1A1*62 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.0.2950169572007UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A32233760534TA,C
rs67420782083701654658UGT1A1umls:C0017551BeFreeThe UGT1A1 Gilbert syndrome variant rs6742078 is associated with gallstone disease in men; further studies are required regarding the sex-specific physiology of bilirubin and bile acid metabolism.0.2950169572010UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A32233763993GT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:2)
HP ID HP Name MP ID MP Name Annotation
HP:0008282Unconjugated hyperbilirubinemiaMP:0013504increased embryonic tissue cell apoptosisincrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0000952JaundiceMP:0020215impaired blood coagulationimpaired ability of the blood to clot
Disease ID 647
Disease congenital nonhemolytic jaundice
Case(Waiting for update.)