{"orpha":140941,"name":"Short stature due to primary acid-labile subunit deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare growth hormone insensitivity syndrome characterized by moderate postnatal growth delay, markedly low circulating levels of insulin-like growth factor&nbsp;1 (IGF-1) and insulin-like growth factor binding protein&nbsp;3 (IGFBP-3), normal response to growth hormone stimulation test, and insulin insensitivity marked by normal glucose levels and hyperinsulinemia. Additional findings may include subnormal IGF-2, IGFBP-1 and IGFBP-2 levels, as well as microcephaly, delayed puberty and bone maturation, and reduced bone mineral density in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140941/","orphanet_url":"https://www.orpha.net/en/disease/detail/140941","names":{"fr":{"name":"Petite taille par déficit primaire en sous-unité acide labile","definition":"Syndrome rare d'insensibilité à l'hormone de croissance caractérisé par un retard de croissance postnatal modéré, des taux circulants d'insulin-like growth factor 1 (IGF-1) et d'insulin-like growth factor binding protein 3 (IGFBP-3) nettement bas, une réponse normale au test de stimulation à l'hormone de croissance, ainsi qu'une insensibilité à l'insuline se traduisant par une glycémie normale et une hyperinsulinémie. Les autres manifestations sont des taux d'IGF-2, IGFBP-1 et IGFBP-2 inférieurs à la normale ainsi qu'une microcéphalie, et un retard de maturation osseuse et, dans certains cas, une diminution de la densité minérale osseuse."},"de":{"name":"Kleinwuchs durch primären Mangel der säurelabilen Untereinheit","definition":"Der Kleinwuchs durch primären Mangel der säurelabilen Untereinheit (ALS) ist gekennzeichnet durch moderate postnatale Wachstumsverzögerung, stark erniedrigte Blutspiegel des insulin-like growth factor 1 (IGF-1) und des insulin-like growth factor binding protein 3 (IGFBP-3), sowie durch Hyperinsulinämie. Ein Mangel des Wachstumshormons (GH) und auch eine GH-Insensivität bestehen nicht."},"es":{"name":"Talla baja por deficiencia primaria de subunidad ácido-lábil","definition":"La talla baja por deficiencia primaria de la subunidad ácido-lábil (ALS) está caracterizada por un déficit moderado del crecimiento postnatal, niveles muy bajos del factor de crecimiento insulínico tipo 1 (IGF-1) y de la proteína 3 de transporte de factor de crecimiento insulínico (IGFBP-3), e hiperinsulinemia, en ausencia de deficiencia de hormona de crecimiento (GH) o insensibilidad a GH."},"it":{"name":"Bassa statura da deficit primitivo della subunità acido-labile"},"nl":{"name":"Kleine gestalte door primaire deficiëntie van zuurlabiele subeenheid","definition":"Kleine gestalte door primaire deficiëntie van zuurlabiele subeenheid (ALS) wordt gekenmerkt door matige postnatale groeiachterstand, opmerkelijk lage circulerende gehaltes van insulineachtige groeifactor 1 (IGF-1) en insulineachtige groeifactor-bindend proteïne 3 (IGFBP-3), en hyperinsulinemie, in afwezigheid van deficiëntie van groeihormoon (GH) of ongevoeligheid voor GH."},"pt":{"name":"Baixa estatura por deficiência primária da subunidade ácido-lábil"},"pl":{"name":"Niski wzrost z powodu niedoboru pierwotnej labilnej kwasowo podjednostki"},"cs":{"name":"Malý vzrůst způsobený primárním deficitem acido-labilní podjednotky"},"uk":{"name":"Низькорослість через дефіцит первинної кислотолабільної субодиниці","definition":"Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity."},"zh":{"name":"原发性酸不稳定亚单位缺乏所致矮小","definition":"原发性酸不稳定亚单位（ALS）缺乏所致身材矮小症，其特征是中度产后生长缺陷，胰岛素样生长因子1（IGF-1）和胰岛素样生长因子结合蛋白3（IGFBP-3）的循环水平显著降低，高胰岛素血症，无生长激素（GH）缺乏或GH不敏感。"},"tr":{"name":"Primer aside dayanıksız alt birim eksikliği kaynaklı kısa boy"}},"xrefs":[{"source":"OMIM","code":"615961","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"29735645"},{"source":"MONDO","code":"0014420","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303612","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]}],"children":[],"genes":[{"symbol":"IGFALS","name":"insulin like growth factor binding protein acid labile subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21396577[PMID]","hgnc":"5468","ensembl":"ENSG00000099769","omim":"601489","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-05-26","source":"20389102[PMID]_19729943[PMID]_21396577[PMID]_28737870[PMID]_39475135[PMID]_17726072[PMID]_14762184[PMID]","terms":[{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008855","label":"Moderate postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045046","label":"Reduced insulin like growth factor binding protein acid labile subunit concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008189","label":"Insulin insensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040195","label":"Decreased head circumference","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000404","label":"Reduced circulating insulin-like growth factor 2 concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034323","label":"Reduced circulating growth hormone concentration","frequency":"Excluded (0%)","criteria":null}]}}