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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Cholestasis, Intrahepatic (D002780)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Heart Defects, Congenital (D006330)
..Starting node ..Alagille Syndrome (D016738)
Child Nodes:
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..Aarskog Syndrome (C535331) 1
..Al Gazali Aziz Salem syndrome (C535613)
..Alagille Syndrome (D016738)
..Amastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..Aortic Coarctation (D001017) 3
..Aortic Valve Disease (C563178) 1
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arrhythmogenic Right Ventricular Dysplasia (D019571) 13
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Baetz-Greenwalt syndrome (C537795)
..Barth Syndrome (D056889) 2
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Beemer Ertbruggen syndrome (C537668)
..Bixler Christian Gorlin syndrome (C537632)
..Blepharophimosis syndrome Ohdo type (C536232)
..Bonneau Syndrome (C564875)
..Burn-Mckeown syndrome (C537411)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cardiac Valvular Defect, Developmental (C565882)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardioauditory syndrome of Sanchez Cascos (C535577)
..Cardiocranial syndrome (C535578)
..Cardiofaciocutaneous syndrome (C535579)
..Chromosome 1q21.1 Duplication Syndrome (C567290)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Congenital Heart Defects, X-Linked (C567444)
..Conotruncal cardiac defects (C535464) 1
..Cor Triatriatum (D003310)
..Coronary Vessel Anomalies (D003330) 3
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cranioacrofacial Syndrome (C565147)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Craniofaciofrontodigital Syndrome (C567298)
..Crisscross Heart (D003420)
..Deafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..Dextrocardia (D003914) 10
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Ductus Arteriosus, Patent (D004374) 6
..Ebstein Anomaly (D004437)
..Ectopia Cordis (D054083)
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Eisenmenger Complex (D004541)
..Ellis Yale Winter syndrome (C536205)
..Emanuel syndrome (C535733)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Faciocardiomelic Syndrome (C567176)
..Faciocardiorenal syndrome (C536388)
..Familial anomalous origin of right pulmonary artery (C535681)
..Fragile Site 16p12 (C565001)
..Frontoocular Syndrome (C565340)
..Gay Feinmesser Cohen syndrome (C537676)
..Genito palato cardiac syndrome (C537683)
..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..Heart defects limb shortening (C535850)
..Heart Septal Defects (D006343) 47
..Heart-hand syndrome, Slovenian type (C535852)
..Heart-hand syndrome, Spanish type (C535853)
..Hecht Scott syndrome (C535856)
..Heterotaxy Syndrome (D059446) 7
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..Hittner Hirsch Kreh syndrome (C538323)
..Ho Kaufman Mcalister syndrome (C538325)
..Holt-Oram syndrome (C535326)
..Holzgreve Wagner Rehder syndrome (C535327)
..Hydrolethalus syndrome (C536079)
..Hypoplastic Left Heart Syndrome (D018636)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Jarcho-Levin syndrome (C537565) 1
..Kasznica Carlson Coppedge syndrome (C537011)
..Kleefstra Syndrome (C563043)
..LEOPARD Syndrome (D044542) 2
..Levocardia (D007979)
..Long QT Syndrome (D008133) 20
..Lowry Maclean syndrome (C537037)
..Malpuech facial clefting syndrome (C535704)
..Marcus Gunn phenomenon (C535908)
..Marfan Syndrome (D008382) 9
..McDonough syndrome (C538158)
..McKusick Kaufman syndrome (C538159)
..McPherson Clemens syndrome (C538160)
..Meacham Syndrome (C563821)
..Mehta Lewis Patton syndrome (C536147)
..Mexican Cardiomelic Dysplasia (C563087)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects (C564690)
..Noonan Syndrome (D009634) 12
..Orstavik Lindemann Solberg syndrome (C537137)
..Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..Pilotto syndrome (C537400)
..Powell Chandra Saal syndrome (C538357)
..Pseudodiastrophic dysplasia (C535826)
..Pulmonary Atresia with Intact Ventricular Septum (C562832)
..Right ventricle hypoplasia (C535682)
..Rommen Mueller Sybert syndrome (C535871)
..Saal Bulas syndrome (C537193)
..Sacral meningocele conotruncal heart defects (C537223)
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..Short QT Syndrome 1 (C566506)
..Short QT Syndrome 2 (C566505)
..Short QT Syndrome 3 (C566504)
..Simpson-Golabi-Behmel syndrome (C537340)
..Sonoda syndrome (C536680)
..Steinfeld Syndrome (C566655)
..Stratton-Parker Syndrome (C566105)
..Subaortic Stenosis, Membranous (C564793)
..Tabatznik syndrome (C536784)
..Tamari Goodman syndrome (C536896)
..TARP syndrome (C536942)
..Ter Haar syndrome (C537274)
..Tetralogy of Fallot (D013771) 4
..Thomas syndrome (C536514)
..Transposition of Great Vessels (D014188) 5
..Tricuspid Atresia (D018785) 1
..Trilogy of Fallot (D014286)
..Turner Syndrome (D014424) 2
..Uhl anomaly (C536932)
..VACTERL association (C536495)
..VACTERL association with hydrocephaly, X-linked (C536520)
..VACTERL hydrocephaly (C536521)
..VATER association (C536534)
..Vater Association With Hydrocephalus (C564752)
..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
..Verloove-Vanhorick Brubakk syndrome (C536541)
..Wolff-Parkinson-White Syndrome (D014927)
..Young Simpson syndrome (C536717)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

394

Name:

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).

Alternative IDs:

OMIM:118450|OMIM:610205

ParentIDs:

MESH:D000015|MESH:D002780|MESH:D006330|MESH:D030342

TreeNumbers:

C06.130.120.135.250.125 |C06.552.150.125 |C14.240.400.044 |C16.131.077.065 |C16.131.240.400.044 |C16.320.051

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Digestive system disease|Genetic disease (inborn)

Reference:

MedGen: D016738
MeSH: D016738
OMIM: 118450;

Genes: JAG1; NOTCH2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0000772	Abnormality of the ribs
4	HP:0001284	Areflexia
5	HP:0001631	Atrial septal defect
6	HP:0001492	Axenfeld anomaly
7	HP:0000585	Band keratopathy
8	HP:0000337	Broad forehead
9	HP:0004617	Butterfly vertebral arch
10	HP:0000518	Cataract
11	HP:0001396	Cholestasis
12	HP:0000533	Chorioretinal atrophy
13	HP:0001394	Cirrhosis
14	HP:0001680	Coarctation of aorta
15	HP:0000490	Deeply set eye
16	HP:0005280	Depressed nasal bridge
17	HP:0002910	Elevated hepatic transaminase
18	HP:0001738	Exocrine pancreatic insufficiency
19	HP:0001508	Failure to thrive
20	HP:0002937	Hemivertebrae
21	HP:0001402	Hepatocellular carcinoma
22	HP:0003124	Hypercholesterolemia
23	HP:0000316	Hypertelorism
24	HP:0002155	Hypertriglyceridemia
25	HP:0003022	Hypoplasia of the ulna
26	HP:0003829	Incomplete penetrance
27	HP:0001256	Intellectual disability, mild	HP:0040283
28	HP:0003189	Long nose
29	HP:0000400	Macrotia
30	HP:0000482	Microcornea
31	HP:0008659	Multiple small medullary renal cysts
32	HP:0000545	Myopia
33	HP:0002895	Papillary thyroid carcinoma
34	HP:0004969	Peripheral pulmonary artery stenosis
35	HP:0000580	Pigmentary retinopathy
36	HP:0000627	Posterior embryotoxon
37	HP:0006579	Prolonged neonatal jaundice
38	HP:0006571	Reduced number of intrahepatic bile ducts
39	HP:0000110	Renal dysplasia
40	HP:0000089	Renal hypoplasia
41	HP:0001947	Renal tubular acidosis
42	HP:0009882	Short distal phalanx of finger
43	HP:0001328	Specific learning disability
44	HP:0000486	Strabismus
45	HP:0001297	Stroke
46	HP:0001636	Tetralogy of Fallot
47	HP:0000325	Triangular face
48	HP:0000582	Upslanted palpebral fissure
49	HP:0001629	Ventricular septal defect
50	HP:0000076	Vesicoureteral reflux

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000214.2(JAG1):c.2122_2125delCAGT (p.Gln708Valfs)	182	JAG1	Pathogenic	727504412	RCV000154602; RCV000199484;	N	MedGen:C1956125,OMIM:118450; MedGen:CN221809	20	10625893	10625896	NM_000214.2:c.2122_2125delCAGT	NP_000205.1:p.Gln708Valfs	NC_000020.10:g.10625893_10625896delACTG	-	C1956125 118450 Alagille syndrome 1; CN221809 not provided
NM_000214.2(JAG1):c.1511A>G (p.Asn504Ser)	182	JAG1	Likely pathogenic	527236046	RCV000132568;	N	MedGen:C1956125,OMIM:118450	20	10629255	10629255	NM_000214.2:c.1511A>G	NP_000205.1:p.Asn504Ser	NC_000020.10:g.10629255T>C	-	C1956125 118450 Alagille syndrome 1
NM_000214.2(JAG1):c.1326G>A (p.Trp442Ter)	182	JAG1	Pathogenic	794726974	RCV000173659;	N	MedGen:C1956125,OMIM:118450	20	10630192	10630192	NM_000214.2:c.1326G>A	NP_000205.1:p.Trp442Ter	NC_000020.10:g.10630192C>T	-	C1956125 118450 Alagille syndrome 1
NM_000214.2(JAG1):c.1207C>T (p.Gln403Ter)	182	JAG1	Pathogenic	794727953	RCV000180477;	N	MedGen:C1956125,OMIM:118450	20	10630922	10630922	NM_000214.2:c.1207C>T	NP_000205.1:p.Gln403Ter	NC_000020.10:g.10630922G>A	-	C1956125 118450 Alagille syndrome 1
NM_000214.2(JAG1):c.551G>A (p.Arg184His)	182	JAG1	Pathogenic	121918351	RCV000008059;	N	MedGen:C1956125,OMIM:118450	20	10639259	10639259	NM_000214.2:c.551G>A	NP_000205.1:p.Arg184His	NC_000020.10:g.10639259C>T	OMIM Allelic Variant:601920.0006	C1956125 118450 Alagille syndrome 1
NM_000214.2(JAG1):c.550C>T (p.Arg184Cys)	182	JAG1	Pathogenic	121918350	RCV000008058;	N	MedGen:C1956125,OMIM:118450	20	10639260	10639260	NM_000214.2:c.550C>T	NP_000205.1:p.Arg184Cys	NC_000020.10:g.10639260G>A	OMIM Allelic Variant:601920.0005	C1956125 118450 Alagille syndrome 1
NM_000214.2(JAG1):c.110T>C (p.Leu37Ser)	182	JAG1	Pathogenic	121918352	RCV000008064;	N	MedGen:C1956125,OMIM:118450	20	10653626	10653626	NM_000214.2:c.110T>C	NP_000205.1:p.Leu37Ser	NC_000020.10:g.10653626A>G	OMIM Allelic Variant:601920.0011	C1956125 118450 Alagille syndrome 1