{"orpha":2326,"name":"Kallmann syndrome-heart disease syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2326/","orphanet_url":"https://www.orpha.net/en/disease/detail/2326","names":{"fr":{"name":"Syndrome de Kallmann-cardiopathie","definition":"Le syndrome de Kallmann avec cardiopathie représente une entité distincte du syndrome de Kallmann. Il est caractérisé par l'association d'un hypogonadisme hypogonadotrope par déficit en gonadolibérine (GnRH), d'une anosmie ou hyposmie (avec hypoplasie ou aplasie des bulbes olfactifs), et des malformations cardiaques congénitales complexes (ventricule droit à double issue, cardiomyopathie dilatée, arc aortique)."},"de":{"name":"Kallmann-Syndrom mit Kardiopathie","definition":"Das Kallmann-Syndrom mit Kardiopathie ist gekennzeichnet durch hypogonadotropen Hypogonadismus mit Mangel des Gonadotropin-releasing-Hormons (GnRH), Anosmie oder Hyposmie (mit Hypoplasie oder Aplasie des Bulbus olfactorius) und komplexe angeborene Herzfehler (Double-outlet-right-Ventrikel, dilatative Kardiomyopathie, rechter Aortenbogen)."},"es":{"name":"Síndrome de Kallmann-cardiopatía","definition":"Es un síndrome caracterizado por hipogonadismo hipogonadotrópico asociado a deficiencia de hormona liberadora de gonadotropina (GnRH), anosmia o hiposmia (con hipoplasia o aplasia de los bulbos olfatorios) y malformaciones cardíacas congénitas complejas (doble salida ventricular derecha, miocardiopatía dilatada, arco aórtico derecho). Representa una entidad clínica distinta del síndrome de Kallmann."},"it":{"name":"Sindrome di Kallmann - cardiopatia"},"nl":{"name":"Syndroom van Kallmann - hartziekte-syndroom","definition":"Een syndroom, gekenmerkt door hypogonadotroop hypogonadisme geassocieerd met deficiëntie van gonadotropine-'releasing' hormoon (GnRH), anosmie of hyposmie (met hypoplasie of aplasie van bulbus olfactorius), en complexe congenitale hartmalformaties (rechterventrikel met dubbele uitstroom, gedilateerde cardiomyopathie, rechter aortaboog). Het vertegenwoordigt een aparte klinische entiteit van syndroom van Kallmann."},"pt":{"name":"Síndrome de cardiopatia-síndrome Kallmann"},"pl":{"name":"Zespół Kallmanna - choroba serca"},"cs":{"name":"Syndrom zahrnující Kallmannův syndrom a onemocnění srdce"},"uk":{"name":"Синдром Калмана з серцево-судинним захворюванням","definition":"Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome."},"zh":{"name":"Kallmann综合征-心脏病综合征"},"tr":{"name":"Kallmann sendromu-kalp hastalığı sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016515","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302897","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"8322819[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8322819[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-02","source":"8322819[PMID]_1423001[PMID]_21378379[PMID]_25077900[PMID]","terms":[{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010632","label":"Total anosmia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011638","label":"Anomalous origin of left coronary artery from the pulmonary artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010633","label":"Partial anosmia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004971","label":"Pulmonary artery hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012020","label":"Right aortic arch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000200","label":"Short lingual frenulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005211","label":"Midgut malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010444","label":"Pulmonary insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}