| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 7 (4.0%) |
24038875 |
Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features. Izumi K, Housam R, Kapadia C, Stallings VA, Medne L, Shaikh TH, Kublaoui BM, Zackai EH, Grimberg A. Am J Med Genet A. 2013;161A(12):3137-43. |
| Hypogonadism | ||
| SIM1 | ||
| Basic Helix-Loop-Helix Transcription Factors Child Chromosome Deletion Chromosomes, Human, Pair 6 Haploinsufficiency Homo sapiens Hypothyroidism Infant Male Obesity Prader-Willi Syndrome Repressor Proteins | ||
| 7 (4.0%) |
23686718 |
Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype. Wang JC, Vaccarello-Cruz M, Ross L, Owen R, Pratt VM, Lightman K, Liu Y, Hafezi K, Cherif D, Sahoo T. Am J Med Genet A. 2013;161A(7):1695-701. |
| Obesity | ||
| SNORD116@ UBE3A | ||
| Chromosomes, Human, Pair 15 Females Fluorescent in Situ Hybridization Gene Expression Homo sapiens Isochromosomes Oligonucleotide Array Sequence Analysis Phenotype Prader-Willi Syndrome Single Nucleotide Polymorphism Uniparental Disomy snRNP Core Proteins | ||
| 7 (4.0%) |
20113418 |
1p36 deletion syndrome associated with Prader-Willi-like phenotype. Tsuyusaki Y, Yoshihashi H, Furuya N, Adachi M, Osaka H, Yamamoto K, Kurosawa K. Pediatr Int. 2010;52(4):547-50. |
| Seizure | ||
| ANXA2 | ||
| Child Chromosome Deletion Chromosomes, Human, Pair 1 Facies Females Homo sapiens Intellectual Disability Male Obesity Phenotype Prader-Willi Syndrome Syndrome | ||
| 7 (4.0%) |
18648397 |
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodriguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O. Eur J Hum Genet. 2008;16(12):1443-9. |
| Global developmental delay | ||
| GRIK2 MCHR2 POPDC3 SIM1 | ||
| Adult Child, Preschool Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 6 Cytogenetic Analysis Females Genotype Homo sapiens Infant Male Phenotype Prader-Willi Syndrome | ||
| 7 (4.0%) |
15103712 |
Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome. Cox H, Bullman H, Temple IK. Am J Med Genet A. 2004;127A(1):21-5. |
| Truncal obesity | ||
| Adult Child Child, Preschool Chromosomes, Human, Pair 14 DNA Fingerprinting Differential Diagnosis Females Homo sapiens Infant Infant, Newborn Prader-Willi Syndrome Retrospective Studies Short Tandem Repeat Trisomy Uniparental Disomy | ||
| 7 (4.0%) |
10528860 |
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype. Hordijk R, Wierenga H, Scheffer H, Leegte B, Hofstra RM, Stolte-Dijkstra I. J Med Genet. 1999;36(10):782-5. |
| Cryptorchidism | ||
| Child Chromosome Aberrations Chromosomes, Human, Pair 14 Genetic Markers Homo sapiens Male Nondisjunction, Genetic Obesity Prader-Willi Syndrome Short Tandem Repeat | ||
| 7 (4.0%) |
9843044 |
Prader-Willi-like syndrome in a patient with an Xq23q25 duplication. Monaghan KG, Van Dyke DL, Feldman GL. Am J Med Genet. 1998;80(3):227-31. |
| Weak cry | ||
| Adult Chromosome Banding Females Fluorescent in Situ Hybridization Gene Duplication Homo sapiens Prader-Willi Syndrome X Chromosome |
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 |
|---|