| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
7715262 |
[Pseudotumorous hyperplasia of the caudate lobe of the liver in a patient with Alagille syndrome]. Tuset E, Ribera JM, Domenech E, Vaquero M, Oller B, Armengol M, Planas R, Navarro JT, Feliu E. Med Clin (Barc). 1995;104(11):420-2. |
| Micrognathia | ||
| Adult Alagille Syndrome Differential Diagnosis Females Follow-Up Studies Homo sapiens Hyperplasia Laparotomy Liver Time Factors Ultrasonography | ||
| 2 (39.0%) |
29530693 |
Anterior Unilateral Plagiocephaly in Patient with Alagille Syndrome: Case Report. Narro-Donate JM, Mendez-Roman P, Huete-Allut A, Escribano-Mesa JA, Gomar-Alba M, Contreras-Jimenez A, Pedrero-Garcia F, Masegosa-Gonzalez J. World Neurosurg. 2018;114:37-42. |
| Plagiocephaly | ||
| Alagille Syndrome Child, Preschool Craniosynostosis Females Homo sapiens Plagiocephaly Printing, Three-Dimensional | ||
| 3 (38.6%) |
26339425 |
JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome. Xie X, Lu Y, Wang X, Wu B, Yu H. Int J Clin Exp Pathol. 2015;8(7):8506-11. |
| Pointed chin Butterfly vertebrae | ||
| JAG1 | ||
| c|SUB|C|2612|G;RS#:35761929 c|SUB|T|2957|A c|SUB|T|3417|C;RS#:1051419 p|SUB|L|986|* p|SUB|P|871|R;RS#:35761929 p|SUB|Y|1139|= | ||
| Alagille Syndrome Asians Calcium-Binding Proteins China Diseases in Twins Females Genetic Predisposition to Disease Homo sapiens Infant Intercellular Signaling Peptides and Proteins Jagged-1 Protein Membrane Proteins Phenotype Sequence Analysis, DNA Serrate-Jagged Proteins | ||
| 3 (38.6%) |
21204230 |
20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder. Williams PG, Wetherbee JJ, Rosenfeld JA, Hersh JH. Am J Med Genet A. 2011;155A(1):186-91. |
| Kyphosis Preauricular pit | ||
| ENDOU | ||
| Brain Chromosome Aberrations Chromosomes, Human, Pair 20 Developmental Disabilities Females Fluorescent in Situ Hybridization Homo sapiens Hypopituitarism Infant Magnetic Resonance Imaging Microarray Analysis Phenotype | ||
| 5 (34.8%) |
9775042 |
[Evolution of post-fracture bone deformities in an infant with hepatic osteodystrophy on Alagille syndrome]. de Halleux J, Rombouts JJ, Otte JB. Rev Chir Orthop Reparatrice Appar Mot. 1998;84(4):381-6. |
| Osteopenia Femoral bowing Butterfly vertebrae | ||
| Alagille Syndrome Child Child, Preschool Females Femoral Fractures Femur Homo sapiens Infant | ||
| 6 (32.1%) |
21671386 (3121907) |
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate. Sahoo T, Theisen A, Sanchez-Lara PA, Marble M, Schweitzer DN, Torchia BS, Lamb AN, Bejjani BA, Shaffer LG, Lacassie Y. Am J Med Genet A. 2011;155A(7):1646-53. |
| Pierre-Robin sequence Cleft lip | ||
| Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 20 Cleft Palate Females Genetic Association Studies Homo sapiens Infant Infant, Newborn Male Phenotype Syndrome | ||
| 7 (28.9%) |
25333075 |
Unusual clinical manifestations in a case of Alagille syndrome. Gadkari R, Doshi B, Nayak C, Ghildiyal R, Madke B, Ghia D. Pediatr Dermatol. 2014;31(5):599-602. |
| Pruritus Palmar pits | ||
| Alagille Syndrome Biopsy Child, Preschool Combination Drug Therapy Differential Diagnosis Homo sapiens Male | ||
| 7 (28.9%) |
484950 |
Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement. Riely CA, Cotlier E, Jensen PS, Klatskin G. Ann Intern Med. 1979;91(4):520-7. |
| Jaundice Abnormality of the hand | ||
| Adult Child Child, Preschool Females Heart Diseases Homo sapiens Infant Infant, Newborn Intrahepatic Cholestasis Male Syndrome | ||
| 9 (27.8%) |
30318104 |
Everolimus Rescue Treatment for Chronic Rejection After Pediatric Living Donor Liver Transplantation: 2 Case Reports. Ueno T, Hiwatashi S, Saka R, Yamanaka H, Takama Y, Tazuke Y, Bessho K, Okuyama H. Transplant Proc. 2018;50(9):2872-2876. |
| Hepatic fibrosis Stomatitis | ||
| MTOR | ||
| Child Females Graft Rejection Homo sapiens Immunosuppressive Agents Living Donors | ||
| 9 (27.8%) |
23814595 (3692185) |
Macrodontic maxillary incisor in alagille syndrome. Cozzani M, Fontana M. Dent Res J (Isfahan). 2012;9(Suppl 2):S251-4. |
| Impacted tooth | ||
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%) |
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 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|