isolated growth hormone deficiency type IA

Rare Disease

MONDO:0009876

Also Known As

IGHD IAIllig-type growth hormone deficiencyautosomal recessive isolated growth hormone deficiencycongenital IGHD type IAcongenital isolated GH deficiency type IAcongenital isolated growth hormone deficiency type IAgrowth hormone deficiency, isolated, type IAisolated growth hormone deficiency type IApituitary dwarfism Iprimordial dwarfismsexual ateleiotic dwarfismGrowth hormone deficiency, isolated autosomal recessiveGrowth hormone deficiency, isolated, autosomal recessiveIGHD 1AIGHD1AILLIG type growth hormone deficiencyIllig-type Growth hormone deficiencycongenital IGHDcongenital isolated GH deficiencycongenital isolated growth hormone deficiencyisolated Growth hormone deficiency, type 1Aisolated growth hormone deficiency type 1Aisolated growth hormone deficiency, type IAnon-acquired isolated growth hormone deficiencypituitary dwarfism 1

Definition

An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.