{"orpha":220465,"name":"Laron syndrome with immunodeficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Laron-like syndrome","Short stature due to STAT5b deficiency"],"definition":"This syndrome is characterized by severe growth retardation associated with immunodeficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220465/","orphanet_url":"https://www.orpha.net/en/disease/detail/220465","names":{"fr":{"name":"Syndrome de Laron avec déficit immunitaire","synonyms":["Petite taille par déficit en Stat5b","Syndrome Laron-like"],"definition":"Ce syndrome est caractérisé par un retard de croissance sévère associé à une immunodéficience."},"de":{"name":"Laron-Syndrom mit Immundefekt","synonyms":["Kleinwuchs durch STAT5b-Mangel","Laron-ähnliches Syndrom"]},"es":{"name":"Síndrome de Laron con inmunodeficiencia","synonyms":["Síndrome similar a Laron","Talla baja por deficiencia de STAT5b"],"definition":"Este síndrome se caracteriza por un grave retraso del crecimiento asociado a una inmunodeficiencia."},"it":{"name":"Sindrome di Laron con immunodeficienza","synonyms":["Sindrome Laron-simile","Statura bassa da deficit di STAT5b"]},"nl":{"name":"Syndroom van Laron met immuundeficiëntie","synonyms":["Kleine gestalte door STAT5b-deficiëntie","Laron-achtig syndroom"],"definition":"Een syndroom, gekenmerkt door ernstige groeiretardatie geassocieerd met immuundeficiëntie."},"pt":{"name":"Síndrome Laron com imunodeficiência"},"pl":{"name":"Zespół Larona z niedoborem odporności","synonyms":["Niski wzrost z powodu niedoboru STAT5b","Zespół podobny do zespołu Larona"]},"cs":{"name":"Laronův syndrom s imunodeficiencí","synonyms":["Laron-like syndrom","Nízký vzrůst způsobený deficitem STAT5b"]},"uk":{"name":"Синдром Ларона з імунодефіцитом","synonyms":["Ларон-подібний синдром","Низький зріст через дефіцит STAT5b"],"definition":"This syndrome is characterized by severe growth retardation associated with immunodeficiency."},"zh":{"name":"Laron综合征伴免疫缺陷","synonyms":["STAT5b基因缺陷所致身材矮小"],"definition":"这种综合征的特点是严重的生长迟缓和免疫缺陷。"},"tr":{"name":"İmmün yetmezlik ile seyreden Laron sendromu","synonyms":["Laron benzeri sendrom","STAT5b eksikliğine bağlı kısa boy"]}},"xrefs":[{"source":"OMIM","code":"245590","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618985","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"142511578"},{"source":"UMLS","code":"C4510411","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181393,"name":"Growth hormone insensitivity syndrome","classifications":[156,193]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]},{"orpha":522043,"name":"Syndromic autoimmune enteropathy","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"STAT5B","name":"signal transducer and activator of transcription 5B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22419735[PMID]_29844444[PMID]","hgnc":"11367","ensembl":"ENSG00000173757","omim":"604260","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-12-10","source":"33122102[PMID]_25753012[PMID]_21396575[PMID]_37008935[PMID]","terms":[{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006528","label":"Chronic lung disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006527","label":"Lymphocytic interstitial pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003799","label":"Marked delay in bone age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045046","label":"Reduced insulin like growth factor binding protein acid labile subunit concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005681","label":"Juvenile rheumatoid arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005353","label":"Recurrent herpes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032170","label":"Severe varicella zoster infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034323","label":"Reduced circulating growth hormone concentration","frequency":"Excluded (0%)","criteria":null}]}}