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encyclopedia of Rare Disease Annotation for Precision Medicine



   alagille syndrome
  

Disease ID 363
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
OMIM
DOID
UMLS
C0085280
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:20)
C0023895  |  liver disease  |  3
C0020538  |  hypertension  |  2
C1510471  |  hypovitaminosis  |  1
C0023316  |  lens subluxation  |  1
C0043349  |  xerophthalmia  |  1
C0023890  |  cirrhosis  |  1
C0020443  |  hypercholesterolemia  |  1
C0026654  |  moyamoya syndrome  |  1
C0023794  |  lipidosis  |  1
C0018552  |  hamartomas  |  1
C0008312  |  biliary cirrhosis  |  1
C0020538  |  vascular hypertension  |  1
C0026654  |  moyamoya  |  1
C0158761  |  radioulnar synostosis  |  1
C0022658  |  renal disease  |  1
C0152455  |  keratomalacia  |  1
C0033687  |  proteinuria  |  1
C0035579  |  hypovitaminosis d  |  1
C0003507  |  aortic stenosis  |  1
C0008370  |  cholestasis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
4853  |  NOTCH2  |  CTD_human;GHR;UNIPROT
182  |  JAG1  |  CTD_human;GHR;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
182  |  JAG1  |  CIPHER;CTD_human
4853  |  NOTCH2  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:42)
229  |  ALDOB  |  1.228  |  DISEASES
344  |  APOC2  |  1.228  |  DISEASES
650  |  BMP2  |  1.812  |  DISEASES
23436  |  CELA3B  |  1.923  |  DISEASES
1114  |  CHGB  |  1.544  |  DISEASES
55748  |  CNDP2  |  1.445  |  DISEASES
780  |  DDR1  |  1.391  |  DISEASES
2304  |  FOXE1  |  1.025  |  DISEASES
2632  |  GBE1  |  1.377  |  DISEASES
84667  |  HES7  |  2.553  |  DISEASES
23462  |  HEY1  |  2.784  |  DISEASES
23493  |  HEY2  |  3.462  |  DISEASES
3714  |  JAG2  |  1.262  |  DISEASES
3855  |  KRT7  |  1.312  |  DISEASES
145873  |  MESP2  |  3.734  |  DISEASES
4242  |  MFNG  |  3.303  |  DISEASES
4855  |  NOTCH4  |  2.496  |  DISEASES
5075  |  PAX1  |  2.929  |  DISEASES
23236  |  PLCB1  |  1.553  |  DISEASES
5332  |  PLCB4  |  3.444  |  DISEASES
23509  |  POFUT1  |  2.26  |  DISEASES
56342  |  PPAN  |  1.746  |  DISEASES
3516  |  RBPJ  |  3.487  |  DISEASES
6238  |  RRBP1  |  1.536  |  DISEASES
6406  |  SEMG1  |  1.824  |  DISEASES
5265  |  SERPINA1  |  1.111  |  DISEASES
10165  |  SLC25A13  |  1.262  |  DISEASES
11005  |  SPINK5  |  1.187  |  DISEASES
6899  |  TBX1  |  2.66  |  DISEASES
7058  |  THBS2  |  1.224  |  DISEASES
9414  |  TJP2  |  1.565  |  DISEASES
26276  |  VPS33B  |  2.231  |  DISEASES
7709  |  ZBTB17  |  2.387  |  DISEASES
7586  |  ZKSCAN1  |  2.536  |  DISEASES
7692  |  ZNF133  |  3.093  |  DISEASES
7697  |  ZNF138  |  3.571  |  DISEASES
7702  |  ZNF143  |  2.116  |  DISEASES
7707  |  ZNF148  |  2.091  |  DISEASES
51710  |  ZNF44  |  1.914  |  DISEASES
115560  |  ZNF501  |  1.955  |  DISEASES
148266  |  ZNF569  |  1.927  |  DISEASES
284390  |  ZNF763  |  1.955  |  DISEASES
Locus(Waiting for update.)
Disease ID 363
Disease alagille syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:43)
HP:0000028  |  Cryptorchidism
HP:0000615  |  Abnormality of the pupil
HP:0000307  |  Pointed chin
HP:0001629  |  Ventricular septal defect
HP:0100585  |  Telangiectasia of the skin
HP:0000248  |  Brachycephaly
HP:0003189  |  Long nose
HP:0001631  |  Atrial septal defect
HP:0000563  |  Keratoconus
HP:0008678  |  Renal hypoplasia/aplasia
HP:0000490  |  Deeply set eye
HP:0000347  |  Micrognathia
HP:0012368  |  Flat face
HP:0002007  |  Frontal bossing
HP:0006571  |  Reduced number of intrahepatic bile ducts
HP:0000486  |  Strabismus
HP:0003298  |  Spina bifida occulta
HP:0000316  |  Hypertelorism
HP:0000822  |  Hypertension
HP:0000069  |  Abnormality of the ureter
HP:0001511  |  Intrauterine growth retardation
HP:0000772  |  Abnormality of the ribs
HP:0000494  |  Downslanted palpebral fissures
HP:0001256  |  Intellectual disability, mild
HP:0003022  |  Hypoplasia of the ulna
HP:0003312  |  Abnormal form of the vertebral bodies
HP:0001396  |  Cholestasis
HP:0001131  |  Corneal dystrophy
HP:0001508  |  Failure to thrive
HP:0000823  |  Delayed puberty
HP:0002240  |  Hepatomegaly
HP:0004209  |  Clinodactyly of the 5th finger
HP:0000311  |  Round face
HP:0000322  |  Short philtrum
HP:0004617  |  Butterfly vertebral arch
HP:0000411  |  Protruding ear
HP:0003422  |  Vertebral segmentation defect
HP:0004969  |  Peripheral pulmonary artery stenosis
HP:0002750  |  Delayed skeletal maturation
HP:0000100  |  Nephrotic syndrome
HP:0001328  |  Specific learning disability
HP:0000280  |  Coarse facial features
HP:0009882  |  Short distal phalanx of finger
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:22)
Disease ID 363
Disease alagille syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Manually Genotypes:4)
Gene Mutation DOI Article Title
JAG1Het del exon 3doi:10.1038/gim.2011.65Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
JAG1Het del whole genedoi:10.1038/gim.2011.65Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
JAG1Het del exon 6–26doi:10.1038/gim.2011.65Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
JAG1-doi:10.1038/gim.2015.51Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability
Text Mining Genotype(Total 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
rs14589519623956173182JAG1umls:C0085280BeFreeWe 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.0.1576281882013JAG12010641566CA,T
rs2893966819780835182JAG1umls:C0085280BeFreeA 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.0.1576281882009JAG12010652533CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:23)
HP ID HP Name MP ID MP Name Annotation
HP:0012368Flat faceMP:0012175flat facethe appearance of a flattened surface outline or contour of a normally rounded face of an organism
HP:0000772Abnormality of the ribsMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0001508Failure to thriveMP:0013294prenatal lethality prior to heart atrial septationdeath prior to the completion of heart atrial septation (Mus: E14.5-15.5)
HP:0003422Vertebral segmentation defectMP:0010412atrioventricular septal defectdefects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partia
HP:0004209Clinodactyly of the 5th fingerMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0004969Peripheral pulmonary artery stenosisMP:0012537abnormal hyaloid artery morphologyany structural anomaly of the artery which arises from the dorsal ophthalmic artery and enters the eye cup through the optic (choroid) fissure; the hyaloid artery is contained within the optic stalk of the eye, extends from the optic disc through the vitr
HP:0003312Abnormal form of the vertebral bodiesMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0001328Specific learning disabilityMP:0002802abnormal discrimination learninganomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus
HP:0000311Round faceMP:0012546triangular facea face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia
HP:0001631Atria septal defectMP:0011667double outlet right ventricle with atrioventricular septal defecta form of DORV in which there is also a complete atrioventricular canal
HP:0003298Spina bifida occultaMP:0005297spina bifida occultadefective closure of the laminae of the vertebral column in the lumbosacral region without hernial protrusion of the spinal cord or meninges; the mildest, most common and often asymptomatic form of spina bifida, identified externally by a skin depression
HP:0000069Abnormality of the ureterMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0000280Coarse facial featuresMP:0008018increased facial tumor incidencegreater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period
HP:0000615Abnormality of the pupilMP:0009657failure of chorioallantoic fusionfailure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
HP:0000411Protruding earMP:0005105abnormal middle ear ossicle morphologyany structural anomaly of the three small bones of the middle ear
HP:0002750Delayed skeletal maturationMP:0003379absent sexual maturationfailure to initiate pubertal changes that result in achievement of full sexual capacity
HP:0009882Short distal phalanx of fingerMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0006571Reduced number of intrahepatic bile ductsMP:0006241abnormal placement of pupilsabnormal location of the pupil so that it is not in the center of the iris
HP:0001511Intrauterine growth retardationMP:0011109lethality throughout fetal growth and development, incomplete penetrancethe appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
HP:0000490Deeply set eyeMP:0009829enlarged eye anterior chamberincreased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens
HP:0003022Hypoplasia of the ulnaMP:0012167abnormal epigenetic regulation of gene expressionany anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA
HP:0001629Ventricular septal defectMP:0011667double outlet right ventricle with atrioventricular septal defecta form of DORV in which there is also a complete atrioventricular canal
HP:0100585Telangiectasia of the skinMP:0011022abnormal circadian regulation of systemic arterial blood pressureany anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours
Mapped by homologous gene(Total Items:43)
HP ID HP Name MP ID MP Name Annotation
HP:0000411Protruding earMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001256Intellectual disability, mildMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0003422Vertebral segmentation defectMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000322Short philtrumMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0001631Atria septal defectMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000486StrabismusMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000069Abnormality of the ureterMP:0014171increased fatty acid oxidationincreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0004617Butterfly vertebral archMP:0013241embryo tissue necrosismorphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage
HP:0000615Abnormality of the pupilMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001629Ventricular septal defectMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002240HepatomegalyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001396CholestasisMP:0013504increased embryonic tissue cell apoptosisincrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0000347MicrognathiaMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000316HypertelorismMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000772Abnormality of the ribsMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0009882Short distal phalanx of fingerMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000490Deeply set eyeMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001508Failure to thriveMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0001511Intrauterine growth retardationMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000028CryptorchidismMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001131Corneal dystrophyMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000248BrachycephalyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0003189Long noseMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0001328Specific learning disabilityMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0006571Reduced number of intrahepatic bile ductsMP:0013241embryo tissue necrosismorphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage
HP:0003022Hypoplasia of the ulnaMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000563KeratoconusMP:0013743ciliary body hypoplasiaunderdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris
HP:0000823Delayed pubertyMP:0020087increased susceptibility to non-insulin-dependent diabetesincreased likelihood to develop non-insulin-dependent diabetes
HP:0012368Flat faceMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0004969Peripheral pulmonary artery stenosisMP:0020040decreased bone ossificationdecrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000311Round faceMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0008678Renal hypoplasia/aplasiaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000494Downslanted palpebral fissuresMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0003312Abnormal form of the vertebral bodiesMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0003298Spina bifida occultaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000100Nephrotic syndromeMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0000280Coarse facial featuresMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0004209Clinodactyly of the 5th fingerMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0002750Delayed skeletal maturationMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0100585Telangiectasia of the skinMP:0014127increased thymoma incidencegreater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas
HP:0002007Frontal bossingMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000307Pointed chinMP:0014178increased brain apoptosisincrease in the number of cells of the brain undergoing programmed cell death
HP:0000822HypertensionMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
Disease ID 363
Disease alagille syndrome
Case(Waiting for update.)