{"orpha":2969,"name":"Proteus-like syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2969/","orphanet_url":"https://www.orpha.net/en/disease/detail/2969","names":{"fr":{"name":"Syndrome Proteus-like","definition":"Maladie génétique rare décrivant les patients qui ne correspondent pas aux critères diagnostiques pour le syndrome de Protée mais qui partagent un grand nombre des signes cliniques caractéristiques de cette maladie."},"de":{"name":"Proteus-ähnliches Syndrom","definition":"Eine seltene genetische Erkrankung, die dadurch gekennzeichnet ist, dass Patienten eine Vielzahl klinischer Merkmale des Proteus-Syndroms aufweisen, ohne die diagnostischen Kriterien für diese Krankheit zu erfüllen."},"es":{"name":"Síndrome similar a Proteus","synonyms":["Síndrome de Proteus-like"],"definition":"Es una enfermedad genética poco frecuente que se caracteriza por presentar los pacientes numerosas características clínicas del síndrome de Proteus sin cumplir con todos los criterios de diagnóstico de la enfermedad."},"it":{"name":"Sindrome Proteus-simile","definition":"La sindrome Proteus-simile descrive i pazienti che non soddisfano i criteri diagnostici della sindrome di Proteus (si veda questo termine), ma che condividono numerosi segni clinici caratteristici della malattia."},"nl":{"name":"Proteus-achtig syndroom","definition":"Een zeldzame genetische aandoening, gekenmerkt door patiënten die zich presenteren met verschillende klinische kenmerken van Proteus-syndroom zonder te voldoen aan de diagnostische criteria voor deze ziekte."},"pt":{"name":"Síndrome Proteus-like","definition":"Doença genética rara em que os doentes apresentam uma infinidade de características clínicas da síndrome Proteus sem atender aos critérios diagnósticos para a doença."},"pl":{"name":"Zespół podobny do zespołu Proteusa","synonyms":["Zespół Cohena i Haydena"]},"cs":{"name":"Proteus-like syndrom","synonyms":["Cohenův-Haydenův syndrom","Cohen-Haydenův syndrom"]},"uk":{"name":"Протеус-подібний синдром","definition":"A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease."},"zh":{"name":"类变形杆菌综合征","synonyms":["Cohen-Hayden综合征"]},"tr":{"name":"Proteus-benzeri sendrom","synonyms":["Cohen-Hayden sendromu"]}},"xrefs":[{"source":"OMIM","code":"158350","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017571","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866398","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":306498,"name":"PTEN hamartoma tumor syndrome","classifications":[147,152,156,187,202,233]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10749983[PMID]_20301661[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010816","label":"Epidermal nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001140","label":"Limbal dermoid","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001031","label":"Subcutaneous lipoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000828","label":"Abnormality of the parathyroid gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009721","label":"Shagreen patch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100730","label":"Bronchogenic cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010516","label":"Thymus hyperplasia","frequency":"Occasional (29-5%)","criteria":null}]}}