| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
16278893 |
Perlman syndrome: clinical report and nine-year follow-up. Piccione M, Cecconi M, Giuffre M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G. Am J Med Genet A. 2005;139A(2):131-5. |
| Macrocephaly | ||
| Child Child, Preschool Females Homo sapiens Infant Infant, Newborn Syndrome | ||
| 1 (39.0%) |
10751085 |
A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits. Schilke K, Schaefer F, Waldherr R, Rohrschneider W, John C, Himbert U, Mayatepek E, Tariverdian G. Am J Med Genet. 2000;91(1):29-33. |
| Macrocephaly | ||
| Fatal Outcome Females Gigantism Homo sapiens Infant Infant, Newborn Kidney Male Syndrome | ||
| 1 (39.0%) |
9237499 |
Extending the overlap of three congenital overgrowth syndromes. Coppin B, Moore I, Hatchwell E. Clin Genet. 1997;51(6):375-8. |
| Macrocephaly | ||
| Atrial Septal Defects Beckwith-Wiedemann Syndrome Chromosomes, Human, Pair 11 Face Females Glypican Growth Disorders Heparan Sulfate Proteoglycans Heparitin Sulfate Homo sapiens Infant, Newborn Kidney Liver Male Pancreas Pregnancy Proteoglycan Syndrome | ||
| 4 (17.5%) |
2840828 |
Expanding the spectrum of the Perlman syndrome. Greenberg F, Copeland K, Gresik MV. Am J Med Genet. 1988;29(4):773-6. |
| Cryptorchidism Hernia | ||
| Congenital Heart Defects Diaphragmatic Hernia Homo sapiens Infant, Newborn Kidney Neoplasm Male Neoplastic Syndromes, Hereditary Nephroblastoma Syndrome | ||
| 5 (4.0%) |
28328139 |
Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2. Soma N, Higashimoto K, Imamura M, Saitoh A, Soejima H, Nagasaki K. Am J Med Genet A. 2017;173(4):1077-1081. |
| Polyhydramnios | ||
| DIS3L2 | ||
| c|SUB|A|367-2|G c|SUB|T|1328|A p|SUB|M|443|K | ||
| Base Sequence Child Exoribonucleases Females Fetal Macrosomia Gene Expression Genetic Association Studies Heterozygote Homo sapiens Missense Mutation Nephroblastoma RNA-Binding Motifs Survivors | ||
| 5 (4.0%) |
23486540 |
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome. Higashimoto K, Maeda T, Okada J, Ohtsuka Y, Sasaki K, Hirose A, Nomiyama M, Takayanagi T, Fukuzawa R, Yatsuki H, Koide K, Nishioka K, Joh K, Watanabe Y, Yoshiura K, Soejima H. Eur J Hum Genet. 2013;21(11):1316-9. |
| Overgrowth | ||
| DIS3L2 | ||
| Alleles Asians Base Sequence Exons Exoribonucleases Fatal Outcome Fetal Macrosomia Homo sapiens Homologous Recombination Homozygote Infant Infant, Newborn Male Molecular Sequence Data Nephroblastoma Sequence Deletion | ||
| 5 (4.0%) |
20726997 |
Rare clinical entity Perlman syndrome: is cholestasis a new finding? Demirel G, Oguz SS, Celik IH, Uras N, Erdeve O, Dilmen U. Congenit Anom (Kyoto). 2011;51(1):43-5. |
| Cholestasis | ||
| Adult Cholestasis Females Fetal Macrosomia Homo sapiens Infant, Newborn Kidney Kidney Neoplasm Nephroblastoma Polyhydramnios Pregnancy | ||
| 5 (4.0%) |
18780370 |
Perlman syndrome: report, prenatal findings and review. Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Riviere JP, Rossignol S. Am J Med Genet A. 2008;146A(19):2532-7. |
| Ascites | ||
| CDKN1C GPC3 | ||
| Amniotic Fluid Fatal Outcome Females Fetal Macrosomia Genetic Predisposition to Disease Homo sapiens Infant, Newborn Kidney Nephroblastoma Polyhydramnios Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 5 (4.0%) |
16912594 |
A case of Perlman syndrome presenting with hemorrhagic hemangioma. Pirgon O, Atabek ME, Akin F, Sert A. J Pediatr Hematol Oncol. 2006;28(8):531-3. |
| Hemangioma | ||
| Fatal Outcome Hemangioma Hemorrhage Homo sapiens Infant, Newborn Kidney Male Syndrome X-Ray Computed Tomography | ||
| 5 (4.0%) |
10508986 |
Perlman syndrome: four additional cases and review. Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ. Am J Med Genet. 1999;86(5):439-46. |
| Cryptorchidism | ||
| Cryptorchidism Face Females Fetal Macrosomia Genes, Recessive Homo sapiens Infant, Newborn Jews Kidney Kidney Neoplasm Male Nephroblastoma Netherlands |
Total: 38
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000098 | Tall stature | Very frequent (99-80%) |
| HP:0000177 | Abnormality of upper lip | Very frequent (99-80%) |
| HP:0000194 | Open mouth | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000311 | Round face | Very frequent (99-80%) |
| HP:0000319 | Smooth philtrum | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000490 | Deeply set eye | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0002240 | Hepatomegaly | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000187 | Broad alveolar ridges | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000358 | Posteriorly rotated ears | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000391 | Thickened helices | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000842 | Hyperinsulinemia | Frequent (79-30%) |
| HP:0002667 | Nephroblastoma | Frequent (79-30%) |
| HP:0002705 | High, narrow palate | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0012090 | Abnormal pancreas morphology | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000268 | Dolichocephaly | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0002133 | Status epilepticus | Occasional (29-5%) |
| HP:0005306 | Capillary hemangioma | Occasional (29-5%) |
| HP:0007598 | Bilateral single transverse palmar creases | Occasional (29-5%) |
| HP:0010733 | Naevus flammeus of the eyelid | Occasional (29-5%) |
| HP:0100541 | Femoral hernia | Occasional (29-5%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001561 | Polyhydramnios | 4 |
| HP:0003271 | Visceromegaly | 4 |
| HP:0008643 | Nephroblastomatosis | 4 |
| HP:0001548 | Overgrowth | 3 |
| HP:0000028 | Cryptorchidism | 2 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001396 | Cholestasis | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0002566 | Intestinal malrotation | 1 |
| HP:0004392 | Prune belly | 1 |
| HP:0100790 | Hernia | 1 |
| HP:0100880 | Nephrogenic rest | 1 |