| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (53.2%) |
3794950 |
Juvenile gastrointestinal polyposis or the infantile Cronkhite-Canada syndrome. Scharf GM, Becker JH, Laage NJ. J Pediatr Surg. 1986;21(11):953-4. |
| Macrocephaly Clubbing of fingers | ||
| Homo sapiens Infant Intestinal Polyps Male Neoplasms, Multiple Primary Stomach Neoplasms Syndrome | ||
| 1 (53.2%) |
1329940 |
Infantile Cronkhite-Canada syndrome?--Case report. Kucukaydin M, Patiroglu TE, Okur H, Icer M. Eur J Pediatr Surg. 1992;2(5):295-7. |
| Macrocephaly Clubbing of fingers | ||
| Adenomatous Polyposis Coli Child, Preschool Females Homo sapiens Intestinal Polyps | ||
| 3 (39.0%) |
23599658 |
Aggressive juvenile polyposis in children with chromosome 10q23 deletion. Septer S, Zhang L, Lawson CE, Cocjin J, Attard T, Ardinger HH. World J Gastroenterol. 2013;19(14):2286-92. |
| Macrocephaly | ||
| BMPR1A PTEN SMAD4 | ||
| Bone Morphogenetic Protein Receptors, Type I Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 10 Colectomy Genetic Predisposition to Disease Homo sapiens Intestinal Polyposis Male Neoplastic Syndromes, Hereditary PTEN Phosphohydrolase Phenotype | ||
| 3 (39.0%) |
22993021 |
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome. Hiljadnikova Bajro M, Sukarova-Angelovska E, Adelaide J, Chaffanet M, Dimovski AJ. J Appl Genet. 2013;54(1):43-7. |
| Macrocephaly | ||
| BMPR1A PTEN | ||
| Bone Morphogenetic Protein Receptors, Type I Child, Preschool Chromosomes, Human, Pair 10 Developmental Disabilities Genotype Hamartoma Syndrome, Multiple Homo sapiens Intestinal Polyposis Male Neoplastic Syndromes, Hereditary PTEN Phosphohydrolase Sequence Deletion | ||
| 3 (39.0%) |
16295443 |
Juvenile polyposis with macrocephaly and mental retardation (? Ruvalcava-Myhre-Smith syndrome)--a case report. Nandini NM, Singh TB, Kumar A. Indian J Pathol Microbiol. 2004;47(3):414-6. |
| Macrocephaly | ||
| Adenomatous Polyposis Coli Colectomy Duodenal Neoplasms Homo sapiens Infant Intellectual Disability Male Syndrome | ||
| 3 (39.0%) |
981624 |
Juvenile gastrointestinal polyposis. Schwartz AM, McCauley RG. Radiology. 1976;121(2):441-4. |
| Macrocephaly | ||
| Females Homo sapiens Infant Intestinal Polyps Male Neoplasms, Multiple Primary Stomach Neoplasms | ||
| 7 (26.3%) |
25354002 |
[Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome in a patient a with SMAD4 mutation]. Jelsig AM, Torring PM, Wikman F, Mortensen MB, Qvist N, Ousager LB. Ugeskr Laeger. 2014;176(44):. |
| Epistaxis | ||
| SMAD4 | ||
| Adult Carcinoma, Signet Ring Cell Epistaxis Gastrointestinal Neoplasms Germ-Line Mutation Homo sapiens Intestinal Polyposis Male Neoplastic Syndromes, Hereditary Smad4 Protein | ||
| 7 (26.3%) |
25269631 |
[A young man with intestinal polyposis and epistaxis]. Menko FH, Jacobs MA, Mager JJ, Nicolai JJ, Mensenkamp AR, Aalfs CM. Ned Tijdschr Geneeskd. 2014;158:A7398. |
| Epistaxis | ||
| SMAD4 | ||
| c|SUB|G|1558|T | ||
| Colectomy Epistaxis Homo sapiens Intestinal Polyposis Intestinal Polyps Male Mutation Neoplastic Syndromes, Hereditary Smad4 Protein Young Adult | ||
| 9 (21.2%) |
15283831 |
Anesthesia for proteus syndrome. Cekmen N, Kordan AZ, Tuncer B, Gungor I, Akcabay M. Paediatr Anaesth. 2004;14(8):689-92. |
| Inguinal hernia Hyperostosis | ||
| Anesthetics, Inhalation Child, Preschool General Anesthesia Homo sapiens Isoquinolines Laryngeal Masks Magnetic Resonance Imaging Male Methyl Ethers Monitoring, Physiologic Neuromuscular Nondepolarizing Agents Proteus Syndrome Radiography, Abdominal X-Ray Computed Tomography | ||
| 10 (4.0%) |
30276464 |
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. Ravegnini G, Quero G, Sammarini G, Giustiniani MC, Castri F, Pomponi MG, Angelini S, Alfieri S, Genuardi M, Zamboni G, Ricci R. Virchows Arch. 2019;474(2):259-264. |
| Cafe-au-lait spot | ||
| BMPR1A NF1 SMAD4 | ||
| Bone Morphogenetic Protein Receptors, Type I Females Homo sapiens Hyperplasia Intestinal Polyposis Intestinal Polyps Male Middle Aged Mucous Membrane Mutation Neoplastic Syndromes, Hereditary Neurofibromatoses Neurofibromatosis 1 Phenotype Smad4 Protein |
Total: 52
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0004784 | Juvenile gastrointestinal polyposis | Obligate (100%) |
| HP:0012198 | Juvenile colonic polyposis | Obligate (100%) |
| HP:0100896 | Rectal polyposis | Obligate (100%) |
| HP:0005266 | Intestinal polyp | Very frequent (99-80%) |
| HP:0001903 | Anemia | Frequent (79-30%) |
| HP:0002027 | Abdominal pain | Frequent (79-30%) |
| HP:0004390 | Hamartomatous polyposis | Frequent (79-30%) |
| HP:0030256 | Small intestinal polyposis | Frequent (79-30%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000331 | Short chin | Occasional (29-5%) |
| HP:0000969 | Edema | Occasional (29-5%) |
| HP:0001256 | Intellectual disability, mild | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0001510 | Growth delay | Occasional (29-5%) |
| HP:0001999 | Abnormal facial shape | Occasional (29-5%) |
| HP:0002003 | Large forehead | Occasional (29-5%) |
| HP:0002014 | Diarrhea | Occasional (29-5%) |
| HP:0002239 | Gastrointestinal hemorrhage | Occasional (29-5%) |
| HP:0002573 | Hematochezia | Occasional (29-5%) |
| HP:0002576 | Intussusception | Occasional (29-5%) |
| HP:0003003 | Colon cancer | Occasional (29-5%) |
| HP:0004406 | Spontaneous, recurrent epistaxis | Occasional (29-5%) |
| HP:0004795 | Hamartomatous stomach polyps | Occasional (29-5%) |
| HP:0007378 | Neoplasm of the gastrointestinal tract | Occasional (29-5%) |
| HP:0012126 | Stomach cancer | Occasional (29-5%) |
| HP:0012432 | Chronic fatigue | Occasional (29-5%) |
| HP:0100759 | Clubbing of fingers | Occasional (29-5%) |
| HP:0100822 | Rectocele | Occasional (29-5%) |
| HP:0100833 | Neoplasm of the small intestine | Occasional (29-5%) |
| HP:0000160 | Narrow mouth | Very rare (4-1%) |
| HP:0000316 | Hypertelorism | Very rare (4-1%) |
| HP:0000369 | Low-set ears | Very rare (4-1%) |
| HP:0000421 | Epistaxis | Very rare (4-1%) |
| HP:0000494 | Downslanted palpebral fissures | Very rare (4-1%) |
| HP:0001012 | Multiple lipomas | Very rare (4-1%) |
| HP:0002092 | Pulmonary arterial hypertension | Very rare (4-1%) |
| HP:0002243 | Protein-losing enteropathy | Very rare (4-1%) |
| HP:0002326 | Transient ischemic attack | Very rare (4-1%) |
| HP:0002408 | Cerebral arteriovenous malformation | Very rare (4-1%) |
| HP:0002894 | Neoplasm of the pancreas | Very rare (4-1%) |
| HP:0003075 | Hypoproteinemia | Very rare (4-1%) |
| HP:0004941 | Extrahepatic portal hypertension | Very rare (4-1%) |
| HP:0005280 | Depressed nasal bridge | Very rare (4-1%) |
| HP:0006548 | Pulmonary arteriovenous malformation | Very rare (4-1%) |
| HP:0006574 | Hepatic arteriovenous malformation | Very rare (4-1%) |
| HP:0010797 | Hemangioblastoma | Very rare (4-1%) |
| HP:0012050 | Anasarca | Very rare (4-1%) |
| HP:0030049 | Brain abscess | Very rare (4-1%) |
| HP:0040231 | Abnormal onset of bleeding | Very rare (4-1%) |
| HP:0100026 | Arteriovenous malformation | Very rare (4-1%) |
| HP:0100579 | Mucosal telangiectasiae | Very rare (4-1%) |
| HP:0100761 | Visceral angiomatosis | Very rare (4-1%) |
Total: 15
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001009 | Telangiectasia | 3 |
| HP:0030731 | Carcinoma | 3 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000843 | Hyperparathyroidism | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001548 | Overgrowth | 1 |
| HP:0001655 | Patent foramen ovale | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002573 | Hematochezia | 1 |
| HP:0002666 | Pheochromocytoma | 1 |
| HP:0002668 | Paraganglioma | 1 |
| HP:0004390 | Hamartomatous polyposis | 1 |
| HP:0100774 | Hyperostosis | 1 |
| HP:0500167 | Hypergastrinemia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|