{"orpha":633028,"name":"CPE-related Prader-Willi-like syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BDV syndrome","Blakemore-Durmaz-Vasileiou syndrome"],"definition":"A rare Prader-Willi-like syndrome characterized by intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-633028/","orphanet_url":"https://www.orpha.net/en/disease/detail/633028","names":{"fr":{"name":"Syndrome de Prader-Willi-like associé à CPE","synonyms":["Syndrome de BDV","Syndrome de Blakemore-Durmaz-Vasileiou"],"definition":"Syndrome rare de Prader-Willi-like caractérisé par une déficience intellectuelle, une obésité morbide, un hypogonadisme hypogonadotrope, une hyperphagie et un retard de développement. Des troubles endocriniens, tels qu'une hypothyroïdie et une résistance à l'insuline, peuvent être observés. Contrairement au syndrome de Prader-Willi, l'hypotonie musculaire profonde, les difficultés d'alimentation chez le nouveau-né, la petite taille et le déficit en hormone de croissance ne sont pas observés."},"de":{"name":"CPE-assoziiertes Prader-Willi-ähnliches-Syndrom","synonyms":["BDV-Syndrom","Blakemore-Durmaz-Vasileiou-Syndrom"],"definition":"Ein seltenes Prader-Willi-artiges Syndrom, das durch Intelligenzminderung, morbide Adipositas, hypogonadotrophen Hypogonadismus, Hyperphagie und Entwicklungsverzögerung gekennzeichnet ist. Es können endokrine Störungen wie Hypothyreose und Insulinresistenz beobachtet werden. Im Gegensatz zum Prader-Willi-Syndrom werden eine ausgeprägte Muskelhypotonie, Ernährungsschwierigkeiten bei Neugeborenen, Kleinwuchs und Wachstumshormonmangel nicht beobachtet."},"es":{"name":"Síndrome similar a Prader-Willi asociado a CPE","synonyms":["Síndrome BDV","Síndrome de Blakemore-Durmaz-Vasileiou"],"definition":"Es un síndrome poco frecuente similar a Prader-Willi caracterizado por discapacidad intelectual, obesidad mórbida, hipogonadismo hipogonadotrófico, hiperfagia y retraso del desarrollo. Se pueden observar trastornos endocrinos que incluyen hipotiroidismo y resistencia a la insulina. A diferencia del síndrome de Prader-Willi, no se observa hipotonía muscular profunda, ni dificultades alimentarias en los recién nacidos, ni talla baja o deficiencia de la hormona del crecimiento."},"it":{"name":"Sindrome simil-Prader-Willi correlata a CPE","synonyms":["Sindrome BDV","Sindrome di Blakemore-Durmaz-Vasileiou"]},"nl":{"name":"CPE-gerelateerd Prader-Willi-achtig syndroom","synonyms":["BDV-syndroom","Syndroom van Blakemore-Durmaz-Vasileiou"],"definition":"Een zeldzaam Prader-Willi-achtig syndroom, gekenmerkt door intellectuele achterstand, morbide obesitas, hypogonadotroop hypogonadisme, hyperfagie en ontwikkelingsachterstand. Endocriene aandoeningen waaronder hypothyreoïdie en insulineresistentie kunnen waargenomen worden. In tegenstelling tot syndroom van Prader-Willi worden hier geen ernstige spierhypotonie, voedingsproblemen bij neonaten, kleine gestalte en groeihormoondeficiëntie waargenomen."},"pt":{"name":"Síndrome Prader-Willi-like CPE-relacionado","synonyms":["Síndrome BDV","Síndrome Blakemore-Durmaz-Vasileiou"],"definition":"Síndrome rara semelhante a Prader-Willi caracterizada por perturbação do desenvolvimento intelectual, obesidade mórbida, hipogonadismo hipogonadotrófico, hiperfagia e perturbação do desenvolvimento. Distúrbios endócrinos, incluindo hipotiroidismo e resistência à insulina, podem ser observados. Ao contrário da síndrome Prader-Willi, hipotonia muscular profunda, dificuldades de alimentação em neonatos, baixa estatura e deficiência de hormona do crescimento não são observados."},"pl":{"name":"Związany z CPE zespół podobny do zespołu Pradera-Willego","synonyms":["BDV syndrome","Blakemore-Durmaz-Vasileiou syndrome"],"definition":"Rzadki zespół podobny do zespołu Pradera-Williego, charakteryzujący się niepełnosprawnością intelektualną, chorobliwą otyłością, hipogonadyzmem hipogonadotropowym, hiperfagią i opóźnieniem rozwoju. Mogą wystąpić zaburzenia endokrynologiczne, w tym niedoczynność tarczycy i insulinooporność. W przeciwieństwie do zespołu Pradera-Williego nie obserwuje się głębokiej hipotonii mięśniowej, trudności w karmieniu u noworodków, niskiego wzrostu i niedoboru hormonu wzrostu."},"cs":{"name":"Syndrom související s CPE podobný Praderovu-Williho syndromu","synonyms":["BDV syndrome","Blakemore-Durmaz-Vasileiou syndrome"]},"uk":{"name":"Синдром Прадера-Віллі, повязаний з CPE","synonyms":["BDV-синдром","Синдром Блейкмора-Дурмаза-Василевса"],"definition":"A rare Prader-Willi-like syndrome characterized by intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed."}},"xrefs":[{"source":"OMIM","code":"619326","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0859001","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"859001","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"859150","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5543403","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":"CPE","name":"carboxypeptidase E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34383079[PMID]","hgnc":"2303","ensembl":"ENSG00000109472","omim":"114855","loci":["4q32.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"26120850[PMID]_32936766[PMID]_34383079[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"26120850[PMID]_32936766[PMID]_34383079[PMID]_ORPHANET"}],"phenotypes":null}