| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
16646034 |
WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH. Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW. Am J Med Genet A. 2006;140(11):1214-8. |
| Microcephaly | ||
| PAX6 WT1 | ||
| Blepharoptosis Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 15 Females Fluorescent in Situ Hybridization Homo sapiens Infant Obesity WAGR Syndrome | ||
| 2 (31.0%) |
15779023 |
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. Bremond-Gignac D, Gerard-Blanluet M, Copin H, Bitoun P, Baumann C, Crolla JA, Benzacken B, Verloes A. Am J Med Genet A. 2005;134(4):422-5. |
| Cataract Polydactyly | ||
| PAX6 WT1 | ||
| Child Child, Preschool Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 11 Eye Proteins Females Fluorescent in Situ Hybridization Follow-Up Studies Homeodomain Proteins Homo sapiens Infant Male Nephroblastoma PAX6 Transcription Factor Paired Box Transcription Factors Polydactyly Repressor Proteins Short Tandem Repeat WAGR Syndrome WT1 Proteins | ||
| 2 (31.0%) |
15742368 |
Bilateral preaxial polydactyly in a WAGR syndrome patient. Manoukian S, Crolla JA, Mammoliti PM, Testi MA, Zanini R, Carpanelli ML, Piozzi E, Sozzi G, De Vecchi G, Terenziani M, Spreafico F, Collini P, Radice P, Perotti D. Am J Med Genet A. 2005;134(4):426-9. |
| Polydactyly | ||
| Child, Preschool Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 11 DNA Females Fluorescent in Situ Hybridization Homo sapiens Polydactyly Polymerase Chain Reaction Short Tandem Repeat WAGR Syndrome WT1 Proteins | ||
| 4 (17.5%) |
17194330 |
[Association between WAGR syndrome and diaphragmatic hernia]. Martin Campagne E, Guerrero Fernandez J, Gracia Bouthelier R, Tovar Larrucea JA. An Pediatr (Barc). 2006;65(6):616-8. |
| Cryptorchidism Posterolateral diaphragmatic hernia | ||
| PAX6 WT1 | ||
| Diaphragmatic Hernia Homo sapiens Infant, Newborn Male WAGR Syndrome | ||
| 4 (17.5%) |
16932893 |
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. Cho HY, Lee BS, Kang CH, Kim WH, Ha IS, Cheong HI, Choi Y. Pediatr Nephrol. 2006;21(12):1909-12. |
| Sex reversal Hernia | ||
| WT1 | ||
| p|SUB|R|366|H;RS#:121907901 | ||
| Amino Acid Substitution Denys-Drash Syndrome Females Homo sapiens Hydrothorax Infant Infant, Newborn Missense Mutation Respiratory Diaphragm WT1 Proteins | ||
| 4 (17.5%) |
15779010 |
Congenital diaphragmatic hernia in WAGR syndrome. Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW. Am J Med Genet A. 2005;134(4):430-3. |
| Vesicoureteral reflux Hernia | ||
| PAX6 WT1 | ||
| Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 11 Diaphragmatic Hernia Eye Proteins Fluorescent in Situ Hybridization Gene Deletion Homeodomain Proteins Homo sapiens Infant Male PAX6 Transcription Factor Paired Box Transcription Factors Repressor Proteins WAGR Syndrome WT1 Proteins | ||
| 7 (4.0%) |
29061165 (5654094) |
Sustained endocrine profiles of a girl with WAGR syndrome. Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S. BMC Med Genet. 2017;18(1):117. |
| Aniridia | ||
| Child, Preschool Chromosomes, Human, Pair 11 DNA Methylation Epigenesis, Genetic Females Homo sapiens Hormones Hypoglycemia Sequence Deletion WAGR Syndrome | ||
| 7 (4.0%) |
28398607 |
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. Huynh MT, Boudry-Labis E, Duban B, Andrieux J, Tran CT, Tampere H, Ceraso D, Manouvrier S, Tachdjian G, Roche-Lestienne C, Vincent-Delorme C. Am J Med Genet A. 2017;173(6):1690-1693. |
| Aniridia | ||
| FOXE1 | ||
| c|DEL,DEL|532_537,178,179|) | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 11 Congenital Hypothyroidism Fluorescent in Situ Hybridization Forkhead Transcription Factors Homo sapiens Male Mosaicism PAX6 Transcription Factor Phenotype Thyroid Dysgenesis WAGR Syndrome WT1 Proteins | ||
| 7 (4.0%) |
27882234 (5103847) |
Dysgerminoma developing from an ectopic ovary in a patient with WAGR syndrome: A case report. Miura R, Yokoyama Y, Shigeto T, Futagami M, Mizunuma H, Kurose A, Tsuruga K, Sasaki S, Terui K, Ito E. Mol Clin Oncol. 2016;5(5):503-506. |
| Glaucoma | ||
| 7 (4.0%) |
26849621 |
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. Primignani P, Allegrini D, Manfredini E, Romitti L, Mauri L, Patrosso MC, Veniani E, Franzoni A, Del Longo A, Gesu GP, Piozzi E, Damante G, Penco S. Ophthalmic Genet. 2016;37(3):307-13. |
| Aniridia | ||
| PAX6 WT1 | ||
| Aniridia Cataract Child Child, Preschool Females Glaucoma Homo sapiens Infant Italy Male Multiplex Polymerase Chain Reaction Mutation PAX6 Transcription Factor Sequence Analysis, DNA |
Total: 18
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0008053 | Aplasia/Hypoplasia of the iris | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000232 | Everted lower lip vermilion | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000364 | Hearing abnormality | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0100627 | Displacement of the urethral meatus | Frequent (79-30%) |
| HP:0000062 | Ambiguous genitalia | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0001513 | Obesity | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0007299 | Dysfunction of lateral corticospinal tracts | Occasional (29-5%) |
Total: 31
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000526 | Aniridia | 30 |
| HP:0001513 | Obesity | 5 |
| HP:0000028 | Cryptorchidism | 4 |
| HP:0000047 | Hypospadias | 3 |
| HP:0000062 | Ambiguous genitalia | 2 |
| HP:0000501 | Glaucoma | 2 |
| HP:0001488 | Bilateral ptosis | 2 |
| HP:0000093 | Proteinuria | 1 |
| HP:0000112 | Nephropathy | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000729 | Autistic behavior | 1 |
| HP:0001087 | Developmental glaucoma | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001270 | Motor delay | 1 |
| HP:0001733 | Pancreatitis | 1 |
| HP:0003241 | External genital hypoplasia | 1 |
| HP:0008715 | Testicular dysgenesis | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0012245 | Sex reversal | 1 |
| HP:0012597 | Heavy proteinuria | 1 |
| HP:0025193 | Posterolateral diaphragmatic hernia | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0031086 | Ectopic ovary | 1 |
| HP:0100020 | Posterior capsular cataract | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |
| HP:0100621 | Dysgerminoma | 1 |
| HP:0100790 | Hernia | 1 |