| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
14872200 |
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects. Wuyts W, Waeber G, Meinecke P, Schuler H, Goecke TO, Van Hul W, Bartsch O. Eur J Hum Genet. 2004;12(5):400-6. |
| Facial asymmetry Small hand | ||
| Adaptor Proteins, Signal Transducing Adult Child Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 11 Craniofacial Abnormalities Females Fluorescent in Situ Hybridization Gene Deletion Hereditary Multiple Exostoses Homo sapiens Intellectual Disability Male N-Acetylglucosaminyltransferases Nuclear Proteins Syndrome Trans-Activators | ||
| 2 (39.0%) |
26333423 |
A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies. Labonne JD, Vogt J, Reali L, Kong IK, Layman LC, Kim HG. Am J Med Genet A. 2015;167A(12):3011-8. |
| Parietal foramina | ||
| ALX4 CRY2 EXT2 PHF21A SLC35C1 | ||
| rs1554969688 rs1554988946 | ||
| Adaptor Proteins, Signal Transducing Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 11 Craniofacial Abnormalities Developmental Disabilities Face Females Gene Deletion Hereditary Multiple Exostoses Histone Deacetylase Homo sapiens Infant Male Membrane Proteins Real-Time Polymerase Chain Reaction | ||
| 2 (39.0%) |
22770980 |
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Am J Hum Genet. 2012;91(1):56-72. |
| Parietal foramina | ||
| KDM1A PHF21A SCN3A | ||
| rs1554969688 rs1554988946 | ||
| Adult Animals Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 11 Craniofacial Abnormalities Females Genotype Haploinsufficiency Hereditary Multiple Exostoses Histone Deacetylase Homo sapiens Infant, Newborn Intellectual Disability Male NAV1.3 Voltage-Gated Sodium Channel Sodium Channel Zebrafish | ||
| 2 (39.0%) |
15852040 |
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Eur J Hum Genet. 2005;13(5):528-40. |
| Parietal foramina | ||
| ALX4 EXT2 | ||
| Child Child, Preschool Chromosomes, Human, Pair 11 Craniofacial Dysostosis Females Fluorescent in Situ Hybridization Gene Deletion Genotype Hereditary Multiple Exostoses Homo sapiens Intellectual Disability Male Phenotype Physical Chromosome Mapping Short Tandem Repeat Syndrome | ||
| 5 (37.8%) |
24376213 |
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. Ferrarini A, Gaillard M, Guerry F, Ramelli G, Heidi F, Keddache CV, Wieland I, Beckmann JS, Jaquemont S, Martinet D. Am J Med Genet A. 2014;164A(2):346-52. |
| Broad nasal tip Multiple exostoses | ||
| ALX1 ALX3 ALX4 EFNB1 | ||
| Chromosome Deletion Chromosomes, Human, Pair 11 Craniofacial Abnormalities DNA-Binding Proteins Exons Face Facies Females Hereditary Multiple Exostoses Heterozygote Homo sapiens Imaging, Three-Dimensional Phenotype Sequence Deletion Single Nucleotide Polymorphism Young Adult | ||
| 6 (21.2%) |
30487643 |
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N. Eur J Hum Genet. 2019;27(3):378-383. |
| Autism Multiple exostoses | ||
| ALX4 EXT2 PHF21A PSMD1 | ||
| Autism Spectrum Disorders Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 11 Craniofacial Abnormalities Epilepsy Haploinsufficiency Hereditary Multiple Exostoses Histone Deacetylase Homo sapiens Intellectual Disability Male Phenotype | ||
| 6 (21.2%) |
28127865 |
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. McCool C, Spinks-Franklin A, Noroski LM, Potocki L. Am J Med Genet A. 2017;173(3):716-720. |
| Anxiety Multiple exostoses | ||
| ALX4 EXT2 PHF21A | ||
| rs1554969688 rs1554988946 | ||
| Child, Preschool Chromosome Banding Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 11 Cognition Gene Deletion Genetic Association Studies Haploinsufficiency Hereditary Multiple Exostoses Histone Deacetylase Homo sapiens Male Phenotype | ||
| 6 (21.2%) |
25653495 (4310950) |
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses. Sohn YB, Yim SY, Cho EH, Kim OH. J Korean Med Sci. 2015;30(2):214-7. |
| Intellectual disability Multiple exostoses | ||
| Child Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 11 Craniofacial Abnormalities Developmental Disabilities Hereditary Multiple Exostoses Homo sapiens Male Oligonucleotide Array Sequence Analysis Rare Diseases South Korea | ||
| 6 (21.2%) |
20140962 |
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L. Am J Med Genet A. 2010;152A(3):565-72. |
| Strabismus Multiple exostoses | ||
| Autistic Disorder Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 11 Craniofacial Abnormalities Developmental Disabilities Early Intervention (Education) Females Hereditary Multiple Exostoses Homo sapiens Infant Male Phenotype Syndrome | ||
| 6 (21.2%) |
17290930 |
Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature. Romeike BF, Wuyts W. Clin Neuropathol. 2007;26(1):1-11. |
| Seizure Osteochondroma | ||
| ALX4 EXT2 MAPK8IP1 MYBPC3 | ||
| Adult Brain Chromosomes, Human, Pair 11 Gene Deletion Homo sapiens Male Phenotype Syndrome |
Total: 23
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000248 | Brachycephaly | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
| HP:0000430 | Underdeveloped nasal alae | Very frequent (99-80%) |
| HP:0000437 | Depressed nasal tip | Very frequent (99-80%) |
| HP:0000455 | Broad nasal tip | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0004331 | Decreased skull ossification | Very frequent (99-80%) |
| HP:0100777 | Exostoses | Very frequent (99-80%) |
| HP:0000054 | Micropenis | Frequent (79-30%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0002697 | Parietal foramina | Frequent (79-30%) |
| HP:0002714 | Downturned corners of mouth | Frequent (79-30%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000822 | Hypertension | Occasional (29-5%) |
| HP:0000823 | Delayed puberty | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0002667 | Nephroblastoma | Occasional (29-5%) |
Total: 11
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002762 | Multiple exostoses | 5 |
| HP:0001249 | Intellectual disability | 3 |
| HP:0000518 | Cataract | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000729 | Autistic behavior | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001488 | Bilateral ptosis | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0002697 | Parietal foramina | 1 |
| HP:0030431 | Osteochondroma | 1 |
| HP:0100777 | Exostoses | 1 |