{"orpha":79076,"name":"Juvenile polyposis of infancy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Infantile juvenile polyposis syndrome"],"definition":null,"note":"This disease is described under Juvenile polyposis syndrome","url":"https://raremap.alftech.space/d/ORPHA-79076/","orphanet_url":"https://www.orpha.net/en/disease/detail/79076","names":{"fr":{"name":"Polypose juvénile infantile"},"de":{"name":"Polyposis-Syndrom, juveniles, frühkindliche Form","synonyms":["Polypose, juvenile, infantile Form"]},"es":{"name":"Poliposis juvenil del lactante","synonyms":["Síndrome de poliposis juvenil del lactante"]},"it":{"name":"Poliposi infantile e giovanile"},"nl":{"name":"Juveniele polyposis beginnend in de zuigelingentijd","synonyms":["Infantiele juveniele polyposis-syndroom","Juveniele polyposis, infantiele vorm"]},"pt":{"name":"Polipose juvenil infantil","synonyms":["Síndrome polipose juvenil forma infantil"]},"pl":{"name":"Młodzieńcza polipowatość niemowląt","synonyms":["Dziecięcy zespół polipowatości"]},"cs":{"name":"Juvenilní polypóza v dětském věku","synonyms":["Syndrom infantilní juvenilní polypózy"]},"uk":{"name":"Ювенільний поліпоз дитячого віку","synonyms":["Синдром інфантильного ювенільного поліпозу"],"definition":"Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life."},"zh":{"name":"婴儿幼年性息肉病","synonyms":["婴幼儿息肉病综合征"]},"tr":{"name":"Süt çocuğu jüvenil polipozisi","synonyms":["İnfantil jüvenil polipoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"175050","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612242","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D12.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"378686036"},{"source":"MONDO","code":"0019190","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5445164","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":2929,"name":"Juvenile polyposis syndrome","classifications":[152,156,202,233]},{"orpha":262083,"name":"Partial deletion of the long arm of chromosome 10 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"BMPR1A","name":"bone morphogenetic protein receptor type 1A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"16685657[PMID]_22993021[PMID]_23331837[PMID]","hgnc":"1076","ensembl":"ENSG00000107779","omim":"601299","loci":["10q23.2"]},{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"16685657[PMID]_22993021[PMID]_23331837[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-07","source":"25022750[PMID]_23331837[PMID]_16685657[PMID]_20301642[PMID]","terms":[{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004390","label":"Hamartomatous polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002003","label":"Large forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002249","label":"Melena","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002243","label":"Protein-losing enteropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005505","label":"Refractory anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010174","label":"Broad phalanx of the toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030257","label":"Freckled genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010797","label":"Hemangioblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002584","label":"Intestinal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002576","label":"Intussusception","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006608","label":"Midclavicular hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002035","label":"Rectal prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001031","label":"Subcutaneous lipoma","frequency":"Very rare (<4-1%)","criteria":null}]}}