Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.



Input patient's signs and symptoms


Narrow down the case reports



Total: 187 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
19
(23.3%)		 24420446
 Two- and three-dimensional prenatal sonographic diagnosis of Alagille syndrome.
Wax JR, Chard R, Pinette MG, Cartin A.
J Clin Ultrasound. 2014;42(5):293-6.
Single umbilical artery Hemivertebrae
Adult Alagille Syndrome Differential Diagnosis Females Fetal Diseases Homo sapiens Imaging, Three-Dimensional Infant, Newborn Pregnancy Pregnancy Trimester, Second Ultrasonography, Prenatal Young Adult
19
(23.3%)		 23657910
 Delineation of a region responsible for panhypopituitarism in 20p11.2.
Dayem-Quere M, Giuliano F, Wagner-Mahler K, Massol C, Crouzet-Ozenda L, Lambert JC, Karmous-Benailly H.
Am J Med Genet A. 2013;161A(7):1547-54.
Intellectual disability Scoliosis
JAG1
Chromosome Deletion Chromosomes, Human, Pair 20 Developmental Disabilities Epilepsy Females Fluorescent in Situ Hybridization Homo sapiens Hypoglycemia Hypopituitarism Intellectual Disability Oligonucleotide Array Sequence Analysis
19
(23.3%)		 21925870
 Alagille syndrome and pregnancy: anesthetic management for cesarean section.
Rahmoune FC, Bruyere M, Tecsy M, Benhamou D.
Int J Obstet Anesth. 2011;20(4):355-8.
Posterior embryotoxon Butterfly vertebrae
INS
Adult Alagille Syndrome Anesthesia, Obstetrical Females Homo sapiens Pregnancy Pregnancy Complications
19
(23.3%)		 21819182
 Butterfly vertebra with lumbar intervertebral disc herniation.
Cho HL, Kim JS, Paeng SS, Lee SH.
J Neurosurg Spine. 2011;15(5):567-70.
Butterfly vertebrae
Diskectomy Females Homo sapiens Intervertebral Disk Displacement Laminectomy Middle Aged Radiculopathy Sciatica
19
(23.3%)		 21642856
 Perthes-like disease in Alagille syndrome.
Massobrio M, Antonietti G, Necci F, Esposito C.
J Pediatr Orthop B. 2011;20(5):299-302.
Butterfly vertebrae
Alagille Syndrome Child, Preschool Homo sapiens Legg-Calve-Perthes Disease Male Osteotomy Vascular Diseases Young Adult
19
(23.3%)		 17786115
 Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart.
Robert ML, Lopez T, Crolla J, Huang S, Owen C, Burvill-Holmes L, Stumper O, Turnpenny PD.
Clin Dysmorphol. 2007;16(4):241-6.
Posterior embryotoxon Butterfly vertebrae
Alagille Syndrome Calcium-Binding Proteins Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 20 Homo sapiens Hypoplastic Left Heart Syndrome Infant Intercellular Signaling Peptides and Proteins Jagged-1 Protein Male Membrane Proteins Serrate-Jagged Proteins
19
(23.3%)		 17295271
 Alagille syndrome: prenatal sonographic findings.
Alessandro G, Incerti M, Andreani M.
J Clin Ultrasound. 2007;35(3):156-8.
Vertebral fusion
Adult Alagille Syndrome Females Homo sapiens Male Pregnancy Stillbirth Ultrasonography, Prenatal
19
(23.3%)		 12029591
 [Butterfly vertebrae and scoliosis: Alagille syndrome].
Przkora R, Schmitz A, Perlick L, Koenig R, Jaeger U, Schmitt O.
Z Orthop Ihre Grenzgeb. 2002;140(2):182-4.
Cholestasis Scoliosis
Alagille Syndrome Differential Diagnosis Females Homo sapiens Magnetic Resonance Imaging Phenotype
19
(23.3%)		 10213047
 Jagged1 mutations in patients ascertained with isolated congenital heart defects.
Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB.
Am J Med Genet. 1999;84(1):56-60.
Pulmonic stenosis Butterfly vertebrae
JAG1
Alagille Syndrome Calcium-Binding Proteins Child, Preschool Chromosomes, Human, Pair 20 Congenital Heart Defects DNA Mutational Analysis Facies Females Fluorescent in Situ Hybridization Gene Deletion Homo sapiens Intercellular Signaling Peptides and Proteins Jagged-1 Protein Male Membrane Proteins Proteins Serrate-Jagged Proteins Single-Stranded Conformational Polymorphism Tetralogy of Fallot
30
(21.2%)		 28660405
 Xanthogranulomatous osteomyelitis of the humerus in a pediatric patient with Alagille syndrome: a case report and literature review.
Cheema A, Arkader A, Pawel B.
Skeletal Radiol. 2017;46(10):1447-1452.
Osteopenia
Alagille Syndrome Biopsy Child, Preschool Combined Modality Therapy Differential Diagnosis Females Granuloma Homo sapiens Humeral Fractures Magnetic Resonance Imaging Osteomyelitis Xanthomatosis
        

Phenotype(s) retrieved from Orphanet

    Total: 43

HPO ID Term Frequency
HP:0001131 Corneal dystrophy Very frequent (99-80%)
HP:0001396 Cholestasis Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001629 Ventricular septal defect Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0006571 Reduced number of intrahepatic bile ducts Very frequent (99-80%)
HP:0000280 Coarse facial features Frequent (79-30%)
HP:0000307 Pointed chin Frequent (79-30%)
HP:0000311 Round face Frequent (79-30%)
HP:0000411 Protruding ear Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0003189 Long nose Frequent (79-30%)
HP:0003298 Spina bifida occulta Frequent (79-30%)
HP:0003312 Abnormal form of the vertebral bodies Frequent (79-30%)
HP:0003422 Vertebral segmentation defect Frequent (79-30%)
HP:0004617 Butterfly vertebral arch Frequent (79-30%)
HP:0100585 Telangiectasia of the skin Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000069 Abnormality of the ureter Occasional (29-5%)
HP:0000100 Nephrotic syndrome Occasional (29-5%)
HP:0000248 Brachycephaly Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000322 Short philtrum Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000490 Deeply set eye Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0000563 Keratoconus Occasional (29-5%)
HP:0000615 Abnormal pupil morphology Occasional (29-5%)
HP:0000772 Abnormality of the ribs Occasional (29-5%)
HP:0000822 Hypertension Occasional (29-5%)
HP:0000823 Delayed puberty Occasional (29-5%)
HP:0001256 Intellectual disability, mild Occasional (29-5%)
HP:0001328 Specific learning disability Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0002750 Delayed skeletal maturation Occasional (29-5%)
HP:0003022 Hypoplasia of the ulna Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0004969 Peripheral pulmonary artery stenosis Occasional (29-5%)
HP:0008678 Renal hypoplasia/aplasia Occasional (29-5%)
HP:0009882 Short distal phalanx of finger Occasional (29-5%)
HP:0012368 Flat face Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 93

HPO ID Term # of case reports
HP:0001396 Cholestasis 33
HP:0000952 Jaundice 12
HP:0000627 Posterior embryotoxon 11
HP:0000989 Pruritus 7
HP:0004969 Peripheral pulmonary artery stenosis 7
HP:0000822 Hypertension 6
HP:0001406 Intrahepatic cholestasis 6
HP:0003124 Hypercholesterolemia 6
HP:0004415 Pulmonary artery stenosis 5
HP:0001394 Cirrhosis 4
HP:0001642 Pulmonic stenosis 4
HP:0005912 Biliary atresia 4
HP:0000112 Nephropathy 3
HP:0000991 Xanthomatosis 3
HP:0002138 Subarachnoid hemorrhage 3
HP:0003316 Butterfly vertebrae 3
HP:0000533 Chorioretinal atrophy 2
HP:0000580 Pigmentary retinopathy 2
HP:0000819 Diabetes mellitus 2
HP:0000938 Osteopenia 2
HP:0001508 Failure to thrive 2
HP:0001920 Renal artery stenosis 2
HP:0002105 Hemoptysis 2
HP:0002516 Increased intracranial pressure 2
HP:0020110 Bone fracture 2
HP:0000023 Inguinal hernia 1
HP:0000083 Renal insufficiency 1
HP:0000093 Proteinuria 1
HP:0000123 Nephritis 1
HP:0000135 Hypogonadism 1
HP:0000307 Pointed chin 1
HP:0000482 Microcornea 1
HP:0000518 Cataract 1
HP:0000546 Retinal degeneration 1
HP:0000563 Keratoconus 1
HP:0000565 Esotropia 1
HP:0000572 Visual loss 1
HP:0000589 Coloboma 1
HP:0000618 Blindness 1
HP:0000790 Hematuria 1
HP:0000823 Delayed puberty 1
HP:0000957 Cafe-au-lait spot 1
HP:0000969 Edema 1
HP:0001085 Papilledema 1
HP:0001132 Lens subluxation 1
HP:0001250 Seizures 1
HP:0001269 Hemiparesis 1
HP:0001357 Plagiocephaly 1
HP:0001399 Hepatic failure 1
HP:0001408 Bile duct proliferation 1
HP:0001433 Hepatosplenomegaly 1
HP:0001518 Small for gestational age 1
HP:0001620 High pitched voice 1
HP:0001643 Patent ductus arteriosus 1
HP:0001647 Bicuspid aortic valve 1
HP:0001716 Wolff-Parkinson-White syndrome 1
HP:0001947 Renal tubular acidosis 1
HP:0002155 Hypertriglyceridemia 1
HP:0002170 Intracranial hemorrhage 1
HP:0002202 Pleural effusion 1
HP:0002414 Spina bifida 1
HP:0002612 Congenital hepatic fibrosis 1
HP:0002613 Biliary cirrhosis 1
HP:0002650 Scoliosis 1
HP:0002653 Bone pain 1
HP:0002754 Osteomyelitis 1
HP:0002756 Pathologic fracture 1
HP:0002835 Aspiration 1
HP:0002904 Hyperbilirubinemia 1
HP:0002943 Thoracic scoliosis 1
HP:0002948 Vertebral fusion 1
HP:0002958 Immune dysregulation 1
HP:0003077 Hyperlipidemia 1
HP:0004309 Ventricular preexcitation 1
HP:0004383 Hypoplastic left heart 1
HP:0004395 Malnutrition 1
HP:0006579 Prolonged neonatal jaundice 1
HP:0007754 Macular dystrophy 1
HP:0010610 Palmar pits 1
HP:0011326 Anterior plagiocephaly 1
HP:0011834 Moyamoya phenomenon 1
HP:0011985 Acholic stools 1
HP:0012115 Hepatitis 1
HP:0012181 Entrapment neuropathy 1
HP:0012230 Rhegmatogenous retinal detachment 1
HP:0025249 Comedo 1
HP:0025407 Rectourethral fistula 1
HP:0030731 Carcinoma 1
HP:0031664 Systolic heart murmur 1
HP:0031774 Posterior communicating artery infundibulum 1
HP:0031834 Aortopulmonary collateral arteries 1
HP:0100545 Arterial stenosis 1
HP:0100725 Lichenification 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID