PedAM

Pediatric Disease Annotations & Medicines


	neonatal jaundice

Disease ID	1002
Disease	neonatal jaundice
Definition	Yellow discoloration of the SKIN; MUCOUS MEMBRANE; and SCLERA in the NEWBORN. It is a sign of NEONATAL HYPERBILIRUBINEMIA. Most cases are transient self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) occurring in the first week of life, but some can be a sign of pathological disorders, particularly LIVER DISEASES.
Synonym	babies jaundice baby jaundice babys jaundice icterus neonatorum icterus neonatorum, unspecified icterus neonatorum, unspecified (disorder) infant jaundice infants jaundice jaundice baby jaundice in baby jaundice infant jaundice neonatal jaundice newborn jaundice newborn physiologic jaundice newborns jaundice, neonatal jaundice, neonatal [disease/finding] neonatal jaundice (disorder) neonatal jaundice (finding) neonatal jaundice, nos newborn jaundice of newborn jaundice physiologic jaundice in newborn
DOID	DOID:2383
UMLS	C0022353
MeSH	D007567
SNOMED-CT	SNOMEDCT_US_2016_09_01:387712008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0004096 \| asthma \| 1 C0005411 \| biliary atresia \| 1 C0004352 \| autism \| 1 C0008370 \| cholestasis \| 1 C0022610 \| bilirubin encephalopathy \| 1 C0221757 \| aat deficiency \| 1 C0011854 \| type 1 diabetes \| 1 C0005586 \| bipolar disorder \| 1 C0011847 \| diabetes \| 1 C0017920 \| g6pd deficiency \| 1 C0020305 \| hydrops fetalis \| 1 C0002878 \| hemolytic anemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) NR1I2 \| 8856 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 2944 \| GSTM1 \| infer 2952 \| GSTT1 \| infer 54658 \| UGT1A1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:88) 3049 \| HBQ1 \| DISEASES 5008 \| OSM \| DISEASES 3162 \| HMOX1 \| DISEASES 5816 \| PVALB \| DISEASES 5020 \| OXT \| DISEASES 4350 \| MPG \| DISEASES 3163 \| HMOX2 \| DISEASES 1666 \| DECR1 \| DISEASES 7355 \| SLC35A2 \| DISEASES 3630 \| INS \| DISEASES 2538 \| G6PC \| DISEASES 182 \| JAG1 \| DISEASES 1965 \| EIF2S1 \| DISEASES 7252 \| TSHB \| DISEASES 10599 \| SLCO1B1 \| DISEASES 3569 \| IL6 \| DISEASES 28234 \| SLCO1B3 \| DISEASES 3034 \| HAL \| DISEASES 3093 \| UBE2K \| DISEASES 3553 \| IL1B \| DISEASES 645 \| BLVRB \| DISEASES 8647 \| ABCB11 \| DISEASES 1371 \| CPOX \| DISEASES 793 \| CALB1 \| DISEASES 644 \| BLVRA \| DISEASES 9611 \| NCOR1 \| DISEASES 4864 \| NPC1 \| DISEASES 9775 \| EIF4A3 \| DISEASES 52 \| ACP1 \| DISEASES 83551 \| TAAR8 \| DISEASES 133 \| ADM \| DISEASES 51594 \| NBAS \| DISEASES 3046 \| HBE1 \| DISEASES 6006 \| RHCE \| DISEASES 27306 \| HPGDS \| DISEASES 6707 \| SPRR3 \| DISEASES 213 \| ALB \| DISEASES 8820 \| HESX1 \| DISEASES 54578 \| UGT1A6 \| DISEASES 5308 \| PITX2 \| DISEASES 54658 \| UGT1A1 \| DISEASES 7201 \| TRHR \| DISEASES 27165 \| GLS2 \| DISEASES 2944 \| GSTM1 \| DISEASES 64388 \| GREM2 \| DISEASES 10380 \| BPNT1 \| DISEASES 5315 \| PKM \| DISEASES 2193 \| FARSA \| DISEASES 1555 \| CYP2B6 \| DISEASES 55748 \| CNDP2 \| DISEASES 3052 \| HCCS \| DISEASES 10215 \| OLIG2 \| DISEASES 6007 \| RHD \| DISEASES 10076 \| PTPRU \| DISEASES 8856 \| NR1I2 \| DISEASES 9547 \| CXCL14 \| DISEASES 2290 \| FOXG1 \| DISEASES 5313 \| PKLR \| DISEASES 467 \| ATF3 \| DISEASES 3792 \| KEL \| DISEASES 5265 \| SERPINA1 \| DISEASES 3042 \| HBM \| DISEASES 1660 \| DHX9 \| DISEASES 9970 \| NR1I3 \| DISEASES 6708 \| SPTA1 \| DISEASES 7062 \| TCHH \| DISEASES 3547 \| IGSF1 \| DISEASES 27022 \| FOXD3 \| DISEASES 11253 \| MAN1B1 \| DISEASES 11093 \| ADAMTS13 \| DISEASES 10864 \| SLC22A7 \| DISEASES 80712 \| ESX1 \| DISEASES 100 \| ADA \| DISEASES 2304 \| FOXE1 \| DISEASES 1192 \| CLIC1 \| DISEASES 4507 \| MTAP \| DISEASES 1992 \| SERPINB1 \| DISEASES 116448 \| OLIG1 \| DISEASES 5799 \| PTPRN2 \| DISEASES 6710 \| SPTB \| DISEASES 685 \| BTC \| DISEASES 174 \| AFP \| DISEASES 4363 \| ABCC1 \| DISEASES 64324 \| NSD1 \| DISEASES 10165 \| SLC25A13 \| DISEASES 2821 \| GPI \| DISEASES 5447 \| POR \| DISEASES 6999 \| TDO2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1002
Disease	neonatal jaundice
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0000010 \| Frequent urinary tract infections \| 1 HP:0001396 \| Cholestasis \| 1 HP:0007302 \| Bipolar disorder \| 1 HP:0000969 \| Dropsy \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0001508 \| Weight faltering \| 1 HP:0005912 \| Biliary duct atresia \| 1 HP:0002904 \| High blood bilirubin levels \| 1 HP:0002099 \| Asthma \| 1 HP:0001789 \| Hydrops fetalis \| 1 HP:0003573 \| Increased bilirubin \| 1 HP:0000717 \| Autism \| 1

Disease ID	1002
Disease	neonatal jaundice
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0022610 \| bilirubin encephalopathy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs4148323	15491385	54658	UGT1A1	umls:C0022353	BeFree	Recently, it has been reported that a mutation of the UGT1A1 gene, glycine to arginine at codon 71 (G71R), is related to the development of neonatal jaundice in East Asian populations.	0.014006695	2004	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760498	G	A
rs4148323	20528217	54658	UGT1A1	umls:C0022353	BeFree	Mutation of the UGT1A1 gene, glycine to arginine at codon 71 (G71R), is related to the development of neonatal jaundice in East Asian populations but the frequency of this mutation is rare among Caucasian populations.	0.014006695	2011	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760498	G	A

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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