| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (53.2%) |
3698332 |
Proximal duplications of chromosome 15: clinical dilemmas. Hood OJ, Rouse BM, Lockhart LH, Bodensteiner JB. Clin Genet. 1986;29(3):234-40. |
| Macrocephaly Tapered finger | ||
| Chromosome Aberrations Chromosomes, Human, 13-15 Congenital Foot Deformity Congenital Hand Deformities Growth Disorders Homo sapiens Infant Male Trisomy | ||
| 2 (48.2%) |
23794236 |
Interstitial 6q microdeletion syndrome and epilepsy: a new patient and review of the literature. Vignoli A, Scornavacca GF, Peron A, La Briola F, Canevini MP. Am J Med Genet A. 2013;161A(8):2009-15. |
| Stereotypy Small hand | ||
| Chromosome Deletion Chromosomes, Human, Pair 6 Electroencephalography Epilepsy Females Fluorescent in Situ Hybridization Genetic Association Studies Homo sapiens Review Literature as Topic | ||
| 2 (48.2%) |
16906536 |
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA, Prott EC, Wieczorek D, Gillessen-Kaesbach G. Am J Med Genet A. 2006;140(19):2039-49. |
| Hypotonia Small hand | ||
| MEG3 SNRPN | ||
| Child Child, Preschool Chromosomes, Human, Pair 14 Cytogenetics DNA Methylation Females Homo sapiens Infant Infant, Newborn Low Birth Weight Infant Male Obesity Phenotype Polymerase Chain Reaction Prader-Willi Syndrome Pregnancy Proteins RNA, Long Untranslated Short Tandem Repeat Uniparental Disomy | ||
| 2 (48.2%) |
16829351 |
A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity. Varela MC, Simoes-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP. Eur J Med Genet. 2006;49(4):298-305. |
| Hypogonadism Small hand | ||
| SIM1 | ||
| Basic Helix-Loop-Helix Transcription Factors Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 6 Females Homo sapiens Infant Male Obesity Phenotype Prader-Willi Syndrome Repressor Proteins Syndrome | ||
| 5 (40.2%) |
16564757 |
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP. Eur J Med Genet. 2006;49(6):451-60. |
| Microcephaly Pointed chin | ||
| Child Child Behavior Disorders Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Females Fluorescent in Situ Hybridization Homo sapiens Hyperphagia Infant Learning Disabilities Male Obesity Phenotype Prader-Willi Syndrome Psychomotor Disorders Short Tandem Repeat | ||
| 6 (17.5%) |
29359444 |
Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. Enya T, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T. Am J Med Genet A. 2018;176(3):707-711. |
| Autism Generalized hypotonia | ||
| MAGEL2 | ||
| c|SUB|C|1912|T;RS#:797044883 c|SUB|C|3131|A p|SUB|Q|638|* | ||
| Alleles Arthrogryposis Biological Markers Child DNA Mutational Analysis Females Genetic Association Studies Genotype Homo sapiens Magnetic Resonance Imaging Mutation Phenotype Prader-Willi Syndrome Proteins Syndrome Whole Exome Sequencing | ||
| 7 (4.0%) |
30323850 (6176277) |
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism. D Hidalgo-Santos A, Del Carmen DeMingo-Alemany M, Moreno-Macian F, Rosello M, Orellana C, Martinez F, Caro-Llopis A, Leon-Carinena S, Tomas-Vila M. Int J Endocrinol Metab. 2018;16(3):e67329. |
| Autism | ||
| MAGEL2 | ||
| 7 (4.0%) |
29619043 (5871659) |
First Case Report of Prader-Willi-Like Syndrome in Colombia. Candelo E, Feinstein MM, Ramirez-Montano D, Gomez JF, Pachajoa H. Front Genet. 2018;9:98. |
| Obesity | ||
| MAGEL2 | ||
| 7 (4.0%) |
28554868 |
A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype. Cao Y, AlHumaidi SS, Faqeih EA, Pitel BA, Lundquist P, Aypar U. Eur J Med Genet. 2017;60(8):416-420. |
| Intellectual disability | ||
| SNORD116@ SNRPN SNURF | ||
| Child DNA Methylation Exons Females Gene Deletion Genomic Imprinting Homo sapiens Nuclear Proteins Phenotype Prader-Willi Syndrome Small Nucleolar RNA | ||
| 7 (4.0%) |
26110021 (4479069) |
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome. Desch L, Marle N, Mosca-Boidron AL, Faivre L, Eliade M, Payet M, Ragon C, Thevenon J, Aral B, Ragot S, Ardalan A, Dhouibi N, Bensignor C, Thauvin-Robinet C, El Chehadeh S, Callier P. Mol Cytogenet. 2015;8:42. |
| Insulin resistance | ||
| BMIQ3 ENPP1 NKAIN2 | ||
Total: 38
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000044 | Hypogonadotrophic hypogonadism | Very frequent (99-80%) |
| HP:0000054 | Micropenis | Very frequent (99-80%) |
| HP:0000141 | Amenorrhea | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001319 | Neonatal hypotonia | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001513 | Obesity | Very frequent (99-80%) |
| HP:0002591 | Polyphagia | Very frequent (99-80%) |
| HP:0004324 | Increased body weight | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0012743 | Abdominal obesity | Very frequent (99-80%) |
| HP:0000194 | Open mouth | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000280 | Coarse facial features | Frequent (79-30%) |
| HP:0000341 | Narrow forehead | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000545 | Myopia | Frequent (79-30%) |
| HP:0000565 | Esotropia | Frequent (79-30%) |
| HP:0000577 | Exotropia | Frequent (79-30%) |
| HP:0001773 | Short foot | Frequent (79-30%) |
| HP:0003086 | Acromesomelia | Frequent (79-30%) |
| HP:0003199 | Decreased muscle mass | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0007874 | Almond-shaped palpebral fissure | Frequent (79-30%) |
| HP:0200055 | Small hand | Frequent (79-30%) |
| HP:0000708 | Behavioral abnormality | Occasional (29-5%) |
| HP:0000729 | Autistic behavior | Occasional (29-5%) |
| HP:0000825 | Hyperinsulinemic hypoglycemia | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001371 | Flexion contracture | Occasional (29-5%) |
| HP:0002019 | Constipation | Occasional (29-5%) |
| HP:0002880 | obsolete Respiratory difficulties | Occasional (29-5%) |
| HP:0009088 | Speech articulation difficulties | Occasional (29-5%) |
| HP:0010535 | Sleep apnea | Occasional (29-5%) |
| HP:0012166 | Skin-picking | Occasional (29-5%) |
Total: 10
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001513 | Obesity | 2 |
| HP:0000717 | Autism | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001252 | Muscular hypotonia | 1 |
| HP:0001270 | Motor delay | 1 |
| HP:0001956 | Truncal obesity | 1 |
| HP:0011968 | Feeding difficulties | 1 |
| HP:0040075 | Hypopituitarism | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|