{"orpha":744,"name":"Proteus syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome"],"definition":"A rare complex overgrowth syndrome characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-744/","orphanet_url":"https://www.orpha.net/en/disease/detail/744","names":{"fr":{"name":"Syndrome de Protée","synonyms":["Syndrome de Proteus","Syndrome de gigantisme partiel-hémihypertrophie-macrocéphalie"],"definition":"Syndrome rare et complexe avec croissance excessive caractérisé par une croissance excessive progressive du squelette, de la peau, du tissu adipeux et du système nerveux central."},"de":{"name":"Proteus-Syndrom","synonyms":["Partieller Gigantismus - Naevi - Hemihypertrophie - Makrozephalie"],"definition":"Ein seltenes komplexes Grosswuchssyndrom, das durch fortschreitendes Überwachsen des Skeletts, der Haut, des Fettgewebes und des zentralen Nervensystems gekennzeichnet ist."},"es":{"name":"Síndrome de Proteus","definition":"Es un síndrome complejo y poco frecuente de sobrecrecimiento caracterizado por un crecimiento excesivo y progresivo del esqueleto, la piel, el tejido adiposo y el sistema nervioso central."},"it":{"name":"Sindrome Proteus","synonyms":["Gigantismo parziale - emipertrofia - macrocefalia"],"definition":"La sindrome Proteus (PS) è una malattia complessa, molto rara, da iperaccrescimento amartomatoso, con crescita progressiva di scheletro, cute, adipe e sistema nervoso centrale."},"nl":{"name":"Proteus-syndroom","synonyms":["Partieel gigantisme - naevi - hemihypertrofie - macrocefalie-syndroom"],"definition":"Een zeldzaam complex overgroeisyndroom, gekenmerkt door progressieve overgroei van skelet, huid, vetweefsel en centraal zenuwstelsel."},"pt":{"name":"Síndrome Proteus","synonyms":["Síndrome de gigantismo parcial-nevos-hemihipertrofia-macrocefalia"],"definition":"Síndrome rara de crescimento excessivo complexo caracterizada pelo crescimento excessivo progressivo do esqueleto, pele, tecido adiposo e sistema nervoso central."},"pl":{"name":"Zespół Proteusa","synonyms":["Częściowy gigantyzm - znamię - przerost połowiczy - makrocefalia"],"definition":"Zespół Proteusa jest bardzo rzadką i złożoną chorobą związaną z przerostem hamartomatycznym, charakteryzującą się postępującym przerostem szkieletu, skóry, tkanki tłuszczowej i ośrodkowego układu nerwowego."},"cs":{"name":"Proteův syndrom","synonyms":["Syndrom zahrnující parciální gigantismus, névy, hemihypertrofii a makrocefalii"]},"uk":{"name":"Синдром Протея","synonyms":["Синдром часткового гігантизму-невуса-гемігіпертрофії-макроцефалії"],"definition":"A rare complex overgrowth syndrome characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems."},"zh":{"name":"Proteus综合征","synonyms":["局部巨人症-痣-偏侧肥大-巨颅畸形综合征"]},"tr":{"name":"Proteus sendromu","synonyms":["Kısmi jigantizm-nevüs-hemihipertrofi-makrosefali sendromu"]}},"xrefs":[{"source":"OMIM","code":"176920","qualifier":"E","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":"index","validated":true,"icd11_uri":"760267333"},{"source":"MONDO","code":"0008318","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016715","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085261","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7475","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10074067","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":459537,"name":"Genetic complex vascular malformation with associated anomalies","classifications":[156]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":166466,"name":"Neurocutaneous syndrome with epilepsy","classifications":[156,181]},{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","classifications":[147,156,199]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]},{"orpha":211277,"name":"Syndromic combined vascular malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"AKT1","name":"AKT serine/threonine kinase 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"21793738[PMID]","hgnc":"391","ensembl":"ENSG00000142208","omim":"164730","loci":["14q32.33"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"21793738[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"21793738[PMID]_[EXPERT]_European Medicines Agency 2018[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-10-30","source":"16883308[PMID]_22876373[PMID]_23992099[PMID]","terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007552","label":"Abnormal subcutaneous fat tissue distribution","frequency":"Very frequent 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(99-80%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010816","label":"Epidermal nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100764","label":"Lymphangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004099","label":"Macrodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001548","label":"Overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100730","label":"Bronchogenic cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004490","label":"Calvarial 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(79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032446","label":"Pulmonary bulla","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0032445","label":"Pulmonary cyst","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000896","label":"Rib exostoses","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004418","label":"Thrombophlebitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012721","label":"Venous malformation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0034275","label":"Verrucous epidermal nevus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional 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(29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008675","label":"Enlarged polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Occasional 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(29-5%)","criteria":null},{"hpo":"HP:0100006","label":"Neoplasm of the central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100521","label":"Neoplasm of the thymus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009594","label":"Retinal hamartoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007899","label":"Retinal nonattachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000007","label":"Salivary basal cell adenoma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010497","label":"Sirenomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010788","label":"Testicular neoplasm","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010516","label":"Thymus hyperplasia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Occasional (29-5%)","criteria":null}]}}