| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (41.7%) |
22673385 |
[Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl]. Vibede LD, Jensen UB, Sorensen TH, Pedersen LM. Ugeskr Laeger. 2012;174(23):1614-5. |
| High palate Macrocephaly | ||
| BMPR1A PTEN | ||
| Child, Preschool Females Hamartoma Syndrome, Multiple Homo sapiens Infant Intestinal Polyposis Macrocephaly Molecular Diagnostic Techniques Mutation Neoplastic Syndromes, Hereditary PTEN Phosphohydrolase | ||
| 2 (39.0%) |
31062505 |
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A. Golas MM, Auber B, Ripperger T, Pabst B, Schmidt G, Morlot M, Diebold U, Steinemann D, Schlegelberger B, Morlot S. Am J Med Genet A. 2019;179(7):1383-1389. |
| Macrocephaly | ||
| BMPR1A KLLN LYPD1 PTEN | ||
| c|DEL|959|CTTT | ||
| Bone Morphogenetic Protein Receptors, Type I Chromosome Deletion Chromosomes, Human, Pair 10 Females Hamartoma Syndrome, Multiple Homo sapiens Male Mosaicism Mutation PTEN Phosphohydrolase | ||
| 2 (39.0%) |
29444762 |
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. Ghusayni R, Sachdev M, Gallentine W, Mikati MA, McDonald MT. Epileptic Disord. 2018;20(1):30-34. |
| Macrocephaly | ||
| c|SUB|T|510|G | ||
| Child Hamartoma Syndrome, Multiple Hemimegalencephaly Homo sapiens Male Mutation PTEN Phosphohydrolase | ||
| 2 (39.0%) |
29194042 |
A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty. Ozsu E, Sen A, Ceylaner S. J Pediatr Endocrinol Metab. 2018;31(1):95-99. |
| Macrocephaly | ||
| Calculi Child Dwarfism Facies Homo sapiens Male Mutation Osteochondritis PTEN Phosphohydrolase Phenotype Precocious Puberty Testicular Diseases | ||
| 2 (39.0%) |
29168369 |
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Hzarcoglu-Gulsen H, Klc E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltk-Temizel N. Turk J Pediatr. 2017;59(1):80-83. |
| Macrocephaly | ||
| PTEN | ||
| Child Gastrointestinal Neoplasms Hamartoma Syndrome, Multiple Homo sapiens Male Mutation PTEN Phosphohydrolase Physical Examination | ||
| 2 (39.0%) |
28401059 (5385310) |
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. Lee SH, Ryoo E, Tchah H. Pediatr Gastroenterol Hepatol Nutr. 2017;20(1):65-70. |
| Macrocephaly | ||
| PTEN | ||
| 2 (39.0%) |
27358095 |
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. Anusic S, Clemens RK, Meier TO, Amann-Vesti BR. BMJ Case Rep. 2016;2016:. |
| Macrocephaly | ||
| PTEN | ||
| Differential Diagnosis Forearm Hamartoma Syndrome, Multiple Homo sapiens Lower Extremity Macrocephaly Magnetic Resonance Angiography Male Musculoskeletal Pain PTEN Phosphohydrolase Ultrasonography, Doppler, Color Young Adult | ||
| 2 (39.0%) |
25549896 |
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N. Eur J Paediatr Neurol. 2015;19(2):188-92. |
| Macrocephaly | ||
| LYPD1 PTEN | ||
| rs1114167676 rs398123329 rs587782607 | ||
| Autism Spectrum Disorders Child Child, Preschool Developmental Disabilities Females Hamartoma Syndrome, Multiple Homo sapiens Infant Intracranial Arteriovenous Malformation Macrocephaly Male Micronucleus, Germline Mutation PTEN Phosphohydrolase Phenotype | ||
| 2 (39.0%) |
24474112 (3900354) |
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. Gontijo GM, Pinto CA, Rogatto SR, Cunha IW, Aguiar S Jr, Alves CA. An Bras Dermatol. 2013;88(6):982-5. |
| Macrocephaly | ||
| PTEN | ||
| Disease Progression Hamartoma Syndrome, Multiple Homo sapiens Infant Lipoma Male Mutation PTEN Phosphohydrolase Skin Skin Neoplasms | ||
| 2 (39.0%) |
24379037 (3890226) |
Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome. Peiretti V, Mussa A, Feyles F, Tuli G, Santanera A, Molinatto C, Ferrero GB, Corrias A. J Clin Res Pediatr Endocrinol. 2013;5(4):261-5. |
| Macrocephaly | ||
| PTEN | ||
| rs876661024 | ||
| Child Child, Preschool Females Hamartoma Syndrome, Multiple Homo sapiens Male PTEN Phosphohydrolase Point Mutation Thyroid Gland |
Total: 55
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0002250 | Abnormal large intestine morphology | Very frequent (99-80%) |
| HP:0003764 | Nevus | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004390 | Hamartomatous polyposis | Very frequent (99-80%) |
| HP:0005306 | Capillary hemangioma | Very frequent (99-80%) |
| HP:0007400 | Irregular hyperpigmentation | Very frequent (99-80%) |
| HP:0012032 | Lipoma | Very frequent (99-80%) |
| HP:0100013 | Neoplasm of the breast | Very frequent (99-80%) |
| HP:0100026 | Arteriovenous malformation | Very frequent (99-80%) |
| HP:0100761 | Visceral angiomatosis | Very frequent (99-80%) |
| HP:0200008 | Intestinal polyposis | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0001482 | Subcutaneous nodule | Frequent (79-30%) |
| HP:0001933 | Subcutaneous hemorrhage | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0000098 | Tall stature | Occasional (29-5%) |
| HP:0000189 | Narrow palate | Occasional (29-5%) |
| HP:0000268 | Dolichocephaly | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000400 | Macrotia | Occasional (29-5%) |
| HP:0000445 | Wide nose | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000587 | Abnormality of the optic nerve | Occasional (29-5%) |
| HP:0000872 | Hashimoto thyroiditis | Occasional (29-5%) |
| HP:0000965 | Cutis marmorata | Occasional (29-5%) |
| HP:0001004 | Lymphedema | Occasional (29-5%) |
| HP:0001009 | Telangiectasia | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001324 | Muscle weakness | Occasional (29-5%) |
| HP:0001681 | Angina pectoris | Occasional (29-5%) |
| HP:0001724 | obsolete Aortic dilatation | Occasional (29-5%) |
| HP:0001943 | Hypoglycemia | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002167 | Neurological speech impairment | Occasional (29-5%) |
| HP:0002170 | Intracranial hemorrhage | Occasional (29-5%) |
| HP:0002194 | Delayed gross motor development | Occasional (29-5%) |
| HP:0002664 | Neoplasm | Occasional (29-5%) |
| HP:0002665 | Lymphoma | Occasional (29-5%) |
| HP:0002750 | Delayed skeletal maturation | Occasional (29-5%) |
| HP:0002858 | Meningioma | Occasional (29-5%) |
| HP:0002890 | Thyroid carcinoma | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0003198 | Myopathy | Occasional (29-5%) |
| HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
| HP:0004326 | Cachexia | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0007565 | Multiple cafe-au-lait spots | Occasional (29-5%) |
| HP:0009023 | Abdominal wall muscle weakness | Occasional (29-5%) |
| HP:0010784 | Uterine neoplasm | Occasional (29-5%) |
| HP:0011304 | Broad thumb | Occasional (29-5%) |
| HP:0100641 | Neoplasm of the adrenal cortex | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000256 | Macrocephaly | 12 |
| HP:0012032 | Lipoma | 4 |
| HP:0000717 | Autism | 3 |
| HP:0003198 | Myopathy | 3 |
| HP:0010566 | Hamartoma | 3 |
| HP:0012733 | Macule | 3 |
| HP:0200008 | Intestinal polyposis | 3 |
| HP:0001028 | Hemangioma | 2 |
| HP:0002027 | Abdominal pain | 2 |
| HP:0001480 | Freckling | 1 |
| HP:0001548 | Overgrowth | 1 |
| HP:0002516 | Increased intracranial pressure | 1 |
| HP:0004390 | Hamartomatous polyposis | 1 |
| HP:0004947 | Arteriovenous fistula | 1 |
| HP:0005266 | Intestinal polyp | 1 |
| HP:0007461 | Hemangiomatosis | 1 |
| HP:0031447 | Penile freckling | 1 |
| HP:0100026 | Arteriovenous malformation | 1 |