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)
42
(4.0%)		 1981431
 Alagille syndrome. A case report.
Nigale V, Trasi SS, Khopkar US, Wadhwa SL, Nadkarni NJ.
Acta Derm Venereol. 1990;70(6):521-3.
Jaundice
Child, Preschool Face Females Homo sapiens Intrahepatic Cholestasis Juvenile Xanthogranuloma Syndrome
42
(4.0%)		 1895727
 [Keratoconus in Alagille syndrome].
Lang GE, Naumann GO.
Klin Monbl Augenheilkd. 1991;198(6):555-7.
Keratoconus
Adult Cornea Homo sapiens Intrahepatic Cholestasis Keratoconus Keratoplasty, Penetrating Male Syndrome Visual Acuity
42
(4.0%)		 1887851
 Alagille syndrome associated with caudal dysplasia sequence.
Rodriguez JI, Rivera T, Palacios J.
Am J Med Genet. 1991;40(1):61-4.
Rectourethral fistula
Homo sapiens Infant Kidney Liver Male Radiography, Thoracic Syndrome
42
(4.0%)		 1779119
 [Ocular anomalies in Alagille's syndrome].
Ricci B, Lepore D, Iossa M, Santo A, Chiaretti A.
J Fr Ophtalmol. 1991;14(8-9):481-5.
Keratoconus
Adult Alagille Syndrome Eye Abnormalities Homo sapiens Keratoconus Male Middle Aged Phenotype
42
(4.0%)		 1482647
 IgA nephritis in a patient with Alagille syndrome and a transplanted liver.
Gilboa N, Hopp L, Agostini RM.
Pediatr Nephrol. 1992;6(6):559-61.
Nephritis
Alagille Syndrome Child Fluorescent Antibody Technique Graft Rejection Homo sapiens IGA Glomerulonephritis Male
42
(4.0%)		 1340815
 [The Alagille syndrome. Apropos 3 cases].
Perozo-Ruggieri G, Gonzalez I, Adrianza A, Romer H, Enriqueta Vegas M.
G E N. 1992;46(2):152-6.
Jaundice
Alagille Syndrome Biopsy Child, Preschool Differential Diagnosis Homo sapiens Infant Infant, Newborn Liver Male
42
(4.0%)		 1309208
 Hepatocellular carcinoma associated with arteriohepatic dysplasia in a 4-year-old girl.
Bekassy AN, Garwicz S, Wiebe T, Hagerstrand I, Jensen OA.
Med Pediatr Oncol. 1992;20(1):78-83.
Cirrhosis
AFP
Alagille Syndrome Child, Preschool Eye Females Homo sapiens Liver
        

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