{"orpha":398079,"name":"SIM1-related Prader-Willi-like syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SIM1-related PWLS"],"definition":"A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behaviour problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398079/","orphanet_url":"https://www.orpha.net/en/disease/detail/398079","names":{"fr":{"name":"Syndrome de Prader-Willi-like associé à SIM1","synonyms":["SPW-like associé à SIM1"],"definition":"Syndrome Prader-Willi-like rare, qui se caractérise par une obésité sévère due à la mutation du gène <i>SIM1</i>, associée à certaines autres caractéristiques cliniques du syndrome de Prader-Willi, notamment une déficience intellectuelle, un retard de développement, des troubles du comportement et une dysmorphie faciale. Contrairement au syndrome de Prader-Willi, la petite taille, l'hypotonie et l'hypogonadisme ne sont pas observés."},"de":{"name":"SIM1-assoziiertes Prader-Willi-ähnliches Syndrom","definition":"Ein Prader-Willi-ähnliches Syndrom, das durch schwere Adipositas gekennzeichnet ist, zusätzlich zu einigen klinischen Merkmalen des Prader-Willi-Syndroms. Ursächlich sind Mutationen im <i>SIM1</i>-Gen. Weitere Manifestationen sind Intelligenzminderung, Entwicklungsverzögerung, Verhaltensauffälligkeiten und Gesichtsdysmorphien. Im Gegensatz zum Prader-Willi-Syndrom sind Kleinwuchs, Hypotonie und Hypogonadismus möglicherweise nicht zu beobachten."},"es":{"name":"Síndrome similar a Prader-Willi asociado a SIM1","synonyms":["Síndrome similar a Prader-Willi por una mutación puntual"],"definition":"Es un síndrome poco frecuente similar a Prader-Willi caracterizado por obesidad grave por mutación del gen <i>SIM1</i>, asociado a algunas características clínicas del síndrome de Prader-Willi que incluyen discapacidad intelectual, retraso del desarrollo, trastornos de la conducta y dismorfia facial. A diferencia del síndrome de Prader-Willi, es posible que no se observen talla baja, ni hipotonía, ni hipogonadismo."},"it":{"name":"Sindrome Prader-Willi-simile da mutazione puntiforme","synonyms":["PWS-simile da mutazione puntiforme"]},"nl":{"name":"SIM1-gerelateerd Prader-Willi-achtig syndroom","synonyms":["SIM1-gerelateerd PWLS"],"definition":"Een zeldzaam Prader-Willi-achtig syndroom, gekenmerkt door ernstige obesitas als gevolg van SIM1-mutatie, bovenop enkele klinische kenmerken van syndroom van Prader-Willi, waaronder intellectuele achterstand, ontwikkelingsachterstand, gedragsproblemen en faciale dysmorfie. In tegenstelling tot syndroom van Prader-Willi worden kleine gestalte, hypotonie en hypogonadisme mogelijk niet waargenomen."},"pt":{"name":"Síndrome Prader-Willi-like SIM1-relacionada","synonyms":["Síndrome semelhante a Prader-Willi devido a mutação pontual"],"definition":"Síndrome rara semelhante a Prader-Willi caracterizada por obesidade grave devido à mutação SIM1, além de algumas características clínicas da síndrome Prader-Willi, incluindo perturbação do desenvolvimento intelectual, atraso no desenvolvimento, problemas de comportamento e dismorfismo facial. Ao contrário da síndrome Prader-Willi, baixa estatura, hipotonia e hipogonadismo podem não ser observados."},"pl":{"name":"Zespół podobny do zespołu Pradera i Willego z powodu mutacji punktowej","synonyms":["Zespół podobny do zespołu Pradera i Willego z powodu mutacji punktowej"],"definition":"Rzadki zespół podobny do zespołu Pradera-Williego, charakteryzujący się znaczną otyłością spowodowaną mutacją SIM1, a także niektórymi cechami klinicznymi zespołu Pradera-Williego, w tym niepełnosprawnością intelektualną, opóźnieniem rozwoju, problemami behawioralnymi i dysmorfią twarzy. W przeciwieństwie do zespołu Pradera-Williego może nie wystąpić niskorosłość, hipotonia i hipogonadyzm."},"cs":{"name":"Syndrom Prader-Willi-like způsobený bodovými mutacemi","synonyms":["SIM1-related PWLS"]},"uk":{"name":"Синдром Прадера-Віллі, повязаний з SIM1","synonyms":["PWLS, повязані з SIM1"],"definition":"A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behaviour problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed."},"zh":{"name":"SIM1相关普拉德-威利样综合征","synonyms":["SIM1相关PWLS"]},"tr":{"name":"SIM1-ilişkili Prader-Willi benzeri sendrom","synonyms":["SIM1 ilişkili PWLS"]}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018355","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680040","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":398073,"name":"Prader-Willi-like syndrome","classifications":[147,156,181,193,201,205]}],"children":[],"genes":[{"symbol":"SIM1","name":"SIM bHLH transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23778136[PMID]","hgnc":"10882","ensembl":"ENSG00000112246","omim":"603128","loci":["6q16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"23778136[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23778136[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-18","source":"27777904[PMID]_20301505[PMID]_23778136[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012743","label":"Abdominal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008197","label":"Absence of pubertal development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000060","label":"Clitoral hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000064","label":"Hypoplastic labia minora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012287","label":"Hypothalamic luteinizing hormone-releasing hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012166","label":"Skin-picking","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012506","label":"Small pituitary gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002494","label":"Abnormal rapid eye movement sleep","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007874","label":"Almond-shaped palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011787","label":"Central hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep 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(29-5%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012412","label":"Premature adrenarche","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012411","label":"Premature pubarche","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Occasional (29-5%)","criteria":null}]}}