PedAM

Pediatric Disease Annotations & Medicines


	alagille syndrome

Disease ID	292
Disease	alagille syndrome
Definition	A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Synonym	ahd alagille syndrome [disease/finding] alagille watson syndrome alagille's syndrome alagille-watson syndrome alagilles syndrome algs arteriohepatic dysplasia arteriohepatic dysplasia (ahd) arteriohepatic dysplasia (disorder) aws cardiovertebral syndrome cholestasis with peripheral pulm stenosis cholestasis with peripheral pulmonary stenosis dysplasia, arteriohepatic dysplasia, arteriohepatic (ahd) hepatic ductular hypoplasia, syndromatic hepatofacioneurocardiovertebral syndrome syndrome alagille syndrome, alagille syndrome, alagille watson syndrome, alagille's syndrome, alagille-watson syndrome, cardiovertebral syndrome, hepatofacioneurocardiovertebral syndrome, watson alagille syndrome, watson miller syndrome, watson-miller watson alagille syndrome watson miller syndrome watson-alagille syndrome watson-miller syndrome
Orphanet	ORPHANET:52
OMIM	OMIM:118450
DOID	DOID:9245
UMLS	C0085280
MeSH	D016738
SNOMED-CT	SNOMEDCT_US_2016_09_01:31742004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0023895 \| liver disease \| 3 C0020538 \| hypertension \| 2 C0018552 \| hamartomas \| 1 C0152455 \| keratomalacia \| 1 C0026654 \| moyamoya syndrome \| 1 C1510471 \| hypovitaminosis \| 1 C0020538 \| vascular hypertension \| 1 C0022658 \| renal disease \| 1 C0023794 \| lipidosis \| 1 C0003507 \| aortic stenosis \| 1 C0023316 \| lens subluxation \| 1 C0026654 \| moyamoya \| 1 C0035579 \| hypovitaminosis d \| 1 C0033687 \| proteinuria \| 1 C0043349 \| xerophthalmia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) NOTCH2 \| 4853 \| CTD_human;GHR JAG1 \| 182 \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 182 \| JAG1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:91) 10683 \| DLL3 \| DISEASES 3163 \| HMOX2 \| DISEASES 3955 \| LFNG \| DISEASES 6928 \| HNF1B \| DISEASES 345 \| APOC3 \| DISEASES 6662 \| SOX9 \| DISEASES 8195 \| MKKS \| DISEASES 821 \| CANX \| DISEASES 54567 \| DLL4 \| DISEASES 348 \| APOE \| DISEASES 7691 \| ZNF132 \| DISEASES 182 \| JAG1 \| DISEASES 4853 \| NOTCH2 \| DISEASES 570 \| BAAT \| DISEASES 23314 \| SATB2 \| DISEASES 949 \| SCARB1 \| DISEASES 23361 \| ZNF629 \| DISEASES 10483 \| SEC23B \| DISEASES 4854 \| NOTCH3 \| DISEASES 8647 \| ABCB11 \| DISEASES 10578 \| GNLY \| DISEASES 9759 \| HDAC4 \| DISEASES 1950 \| EGF \| DISEASES 23395 \| LARS2 \| DISEASES 5244 \| ABCB4 \| DISEASES 9180 \| OSMR \| DISEASES 4851 \| NOTCH1 \| DISEASES 5205 \| ATP8B1 \| DISEASES 51422 \| PRKAG2 \| DISEASES 3156 \| HMGCR \| DISEASES 1990 \| CELA1 \| DISEASES 9076 \| CLDN1 \| DISEASES 56983 \| POGLUT1 \| DISEASES 9317 \| PTER \| DISEASES 290 \| ANPEP \| DISEASES 5245 \| PHB \| DISEASES 3175 \| ONECUT1 \| DISEASES 260434 \| PYDC1 \| DISEASES 10736 \| SIX2 \| DISEASES 54658 \| UGT1A1 \| DISEASES 7690 \| ZNF131 \| DISEASES 5986 \| RFNG \| DISEASES 3159 \| HMGA1 \| DISEASES 10238 \| DCAF7 \| DISEASES 24146 \| CLDN15 \| DISEASES 80818 \| ZNF436 \| DISEASES 4179 \| CD46 \| DISEASES 51593 \| SRRT \| DISEASES 64388 \| GREM2 \| DISEASES 7586 \| ZKSCAN1 \| DISEASES 148266 \| ZNF569 \| DISEASES 55748 \| CNDP2 \| DISEASES 26276 \| VPS33B \| DISEASES 3714 \| JAG2 \| DISEASES 3855 \| KRT7 \| DISEASES 6899 \| TBX1 \| DISEASES 5332 \| PLCB4 \| DISEASES 23236 \| PLCB1 \| DISEASES 23462 \| HEY1 \| DISEASES 23436 \| CELA3B \| DISEASES 145873 \| MESP2 \| DISEASES 3516 \| RBPJ \| DISEASES 5265 \| SERPINA1 \| DISEASES 51710 \| ZNF44 \| DISEASES 4242 \| MFNG \| DISEASES 11005 \| SPINK5 \| DISEASES 7707 \| ZNF148 \| DISEASES 6238 \| RRBP1 \| DISEASES 7058 \| THBS2 \| DISEASES 23493 \| HEY2 \| DISEASES 6406 \| SEMG1 \| DISEASES 229 \| ALDOB \| DISEASES 4855 \| NOTCH4 \| DISEASES 2304 \| FOXE1 \| DISEASES 7709 \| ZBTB17 \| DISEASES 23509 \| POFUT1 \| DISEASES 780 \| DDR1 \| DISEASES 7692 \| ZNF133 \| DISEASES 650 \| BMP2 \| DISEASES 1114 \| CHGB \| DISEASES 284390 \| ZNF763 \| DISEASES 115560 \| ZNF501 \| DISEASES 7702 \| ZNF143 \| DISEASES 5075 \| PAX1 \| DISEASES 10165 \| SLC25A13 \| DISEASES 7697 \| ZNF138 \| DISEASES 2632 \| GBE1 \| DISEASES 9414 \| TJP2 \| DISEASES 84667 \| HES7 \| DISEASES 56342 \| PPAN \| DISEASES 344 \| APOC2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	292
Disease	alagille syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:43) HP:0000411 \| Protruding ear HP:0003298 \| Spina bifida occulta HP:0000823 \| Delayed puberty HP:0100585 \| Telangiectasia of the skin HP:0003312 \| Abnormal form of the vertebral bodies HP:0001396 \| Cholestasis HP:0001629 \| Ventricular septal defect HP:0000490 \| Deeply set eye HP:0008678 \| Renal hypoplasia/aplasia HP:0000347 \| Micrognathia HP:0000563 \| Keratoconus HP:0000822 \| Hypertension HP:0001631 \| Atrial septal defect HP:0003422 \| Vertebral segmentation defect HP:0004617 \| Butterfly vertebral arch HP:0000486 \| Strabismus HP:0003022 \| Hypoplasia of the ulna HP:0004209 \| Clinodactyly of the 5th finger HP:0000311 \| Round face HP:0000280 \| Coarse facial features HP:0006571 \| Reduced number of intrahepatic bile ducts HP:0002240 \| Hepatomegaly HP:0000100 \| Nephrotic syndrome HP:0002007 \| Frontal bossing HP:0000316 \| Hypertelorism HP:0009882 \| Short distal phalanx of finger HP:0000028 \| Cryptorchidism HP:0003189 \| Long nose HP:0012368 \| Flat face HP:0001328 \| Specific learning disability HP:0001131 \| Corneal dystrophy HP:0000069 \| Abnormality of the ureter HP:0000322 \| Short philtrum HP:0001256 \| Intellectual disability, mild HP:0001511 \| Intrauterine growth retardation HP:0000494 \| Downslanted palpebral fissures HP:0000615 \| Abnormality of the pupil HP:0000772 \| Abnormality of the ribs HP:0000307 \| Pointed chin HP:0001508 \| Failure to thrive HP:0002750 \| Delayed skeletal maturation HP:0000248 \| Brachycephaly HP:0004969 \| Peripheral pulmonary artery stenosis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0001920 \| Renal artery stenosis \| 2 HP:0000822 \| Hypertension \| 2 HP:0004415 \| Pulmonary artery stenosis \| 2 HP:0000952 \| Yellow skin \| 1 HP:0001650 \| Valvular aortic stenosis \| 1 HP:0001097 \| Keratoconjunctivitis sicca \| 1 HP:0000093 \| Proteinuria \| 1 HP:0000077 \| Renal anomaly \| 1 HP:0000627 \| Embryotoxon \| 1 HP:0000110 \| Renal dysplasia \| 1 HP:0005743 \| Perthes-like femoral head changes \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0002958 \| Immune dysregulation \| 1 HP:0001132 \| Lens subluxation \| 1 HP:0004969 \| peripheral pulmonary stenosis \| 1

Disease ID	292
Disease	alagille syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs145895196	23956173	182	JAG1	umls:C0085280	BeFree	We report on a patient with tetralogy of Fallot (TOF) and clinical features of DG/VCFS, hemizygous for del22q11.2 and heterozygous for the 2810G > A (p.Arg937Gln) mutation in the JAG1 gene associated with Alagille syndrome.	0.157628188	2013	JAG1	20	10641566	C	A,T
rs28939668	19780835	182	JAG1	umls:C0085280	BeFree	A specific G274D mutation in the second epidermal growth factor repeat of the Jagged-1 was found to correlate with tetralogy of Fallot symptoms but not with usual Alagille syndrome phenotypes.	0.157628188	2009	JAG1	20	10652533	C	T

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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