PedAM

Pediatric Disease Annotations & Medicines


	gilbert syndrome

Disease ID	630
Disease	gilbert syndrome
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 congenital nonhemolytic jaundice 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 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	OMIM:143500
DOID	DOID:2739
ICD10	ICD10CM:E80.4
UMLS	C0017551
MeSH	D005878
SNOMED-CT	SNOMEDCT_US_2016_09_01:27503000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0007222 \| cardiovascular disease \| 1 C0002881 \| hereditary haemolytic anaemias \| 1 C0042373 \| vascular disease \| 1 C0002878 \| haemolytic anaemia \| 1 C0008370 \| cholestasis \| 1 C0035309 \| retinopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) UGT1A \| 7361 \| CTD_human UGT1A1 \| 54658 \| CTD_human;GHR;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 54658 \| UGT1A1 \| infer 54577 \| UGT1A7 \| infer 54578 \| UGT1A6 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:61) 3162 \| HMOX1 \| DISEASES 2937 \| GSS \| DISEASES 53340 \| SPA17 \| DISEASES 135152 \| B3GAT2 \| DISEASES 84618 \| NT5C1A \| DISEASES 6555 \| SLC10A2 \| DISEASES 7355 \| SLC35A2 \| DISEASES 2678 \| GGT1 \| DISEASES 1401 \| CRP \| DISEASES 10599 \| SLCO1B1 \| DISEASES 64240 \| ABCG5 \| DISEASES 28234 \| SLCO1B3 \| DISEASES 9972 \| NUP153 \| DISEASES 10483 \| SEC23B \| DISEASES 84273 \| NOA1 \| DISEASES 644 \| BLVRA \| DISEASES 64241 \| ABCG8 \| DISEASES 83551 \| TAAR8 \| DISEASES 134864 \| TAAR1 \| DISEASES 10 \| NAT2 \| DISEASES 6006 \| RHCE \| DISEASES 213 \| ALB \| DISEASES 11067 \| C10orf10 \| DISEASES 54578 \| UGT1A6 \| DISEASES 7364 \| UGT2B7 \| DISEASES 54658 \| UGT1A1 \| DISEASES 7363 \| UGT2B4 \| DISEASES 6579 \| SLCO1A2 \| DISEASES 2193 \| FARSA \| DISEASES 1555 \| CYP2B6 \| DISEASES 55748 \| CNDP2 \| DISEASES 6007 \| RHD \| DISEASES 3043 \| HBB \| DISEASES 7360 \| UGP2 \| DISEASES 22978 \| NT5C2 \| DISEASES 7366 \| UGT2B15 \| DISEASES 866 \| SERPINA6 \| DISEASES 54575 \| UGT1A10 \| DISEASES 54600 \| UGT1A9 \| DISEASES 79971 \| WLS \| DISEASES 3240 \| HP \| DISEASES 51643 \| TMBIM4 \| DISEASES 1565 \| CYP2D6 \| DISEASES 7150 \| TOP1 \| DISEASES 28514 \| DLL1 \| DISEASES 1660 \| DHX9 \| DISEASES 9970 \| NR1I3 \| DISEASES 1244 \| ABCC2 \| DISEASES 5225 \| PGC \| DISEASES 54577 \| UGT1A7 \| DISEASES 54576 \| UGT1A8 \| DISEASES 229 \| ALDOB \| DISEASES 27237 \| ARHGEF16 \| DISEASES 57380 \| MRS2 \| DISEASES 83650 \| SLC35G5 \| DISEASES 2950 \| GSTP1 \| DISEASES 728441 \| GGT2 \| DISEASES 338821 \| SLCO1B7 \| DISEASES 23218 \| NBEAL2 \| DISEASES 3077 \| HFE \| DISEASES 54659 \| UGT1A3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	630
Disease	gilbert syndrome
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:6) HP:0002904 \| High blood bilirubin levels \| 4 HP:0002908 \| Conjugated hyperbilirubinemia \| 2 HP:0008282 \| Unconjugated hyperbilirubinemia \| 2 HP:0001396 \| Cholestasis \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0000488 \| Noninflammatory retina disease \| 1

Disease ID	630
Disease	gilbert syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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
rs34993780	18004206	54658	UGT1A1	umls:C0017551	BeFree	UGT1A1 coding region mutations, including UGT1A16 (G71R), UGT1A17 (Y486D), UGT1A127 (P229Q) and UGT1A162 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.	0.295016957	2007	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233772413	T	A,C,G
rs35350960	11013440	54658	UGT1A1	umls:C0017551	UNIPROT	Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.	0.295016957	2000	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760973	C	A,T
rs35350960	18004206	54658	UGT1A1	umls:C0017551	BeFree	UGT1A1 coding region mutations, including UGT1A16 (G71R), UGT1A17 (Y486D), UGT1A127 (P229Q) and UGT1A162 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.	0.295016957	2007	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760973	C	A,T
rs4148323	18004206	54658	UGT1A1	umls:C0017551	BeFree	UGT1A1 coding region mutations, including UGT1A16 (G71R), UGT1A17 (Y486D), UGT1A127 (P229Q) and UGT1A162 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.	0.295016957	2007	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760498	G	A
rs4148323	16210851	54658	UGT1A1	umls:C0017551	BeFree	The 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.	0.295016957	2006	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760498	G	A
rs4148323	11013440	54658	UGT1A1	umls:C0017551	UNIPROT	Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.	0.295016957	2000	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760498	G	A
rs55750087	11013440	54658	UGT1A1	umls:C0017551	UNIPROT	Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.	0.295016957	2000	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233768234	C	G,T
rs56059937	12139570	54658	UGT1A1	umls:C0017551	UNIPROT	Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.	0.295016957	2002	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760534	T	A,C
rs56059937	18004206	54658	UGT1A1	umls:C0017551	BeFree	UGT1A1 coding region mutations, including UGT1A16 (G71R), UGT1A17 (Y486D), UGT1A127 (P229Q) and UGT1A162 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.	0.295016957	2007	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760534	T	A,C
rs6742078	20837016	54658	UGT1A1	umls:C0017551	BeFree	The 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.	0.295016957	2010	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233763993	G	T

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:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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