Isolated growth hormone deficiency type IA
MONDO:0009876An 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.
Also known as: Illig-type growth hormone deficiency, congenital IGHD type IA, congenital isolated GH deficiency type IA, congenital isolated growth hormone deficiency type IA, growth hormone deficiency, isolated, type IA, isolated growth hormone deficiency type IA, primordial dwarfism, sexual ateleiotic dwarfism
9 clinical trials for this condition and its sub-types.
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Disease
(618)
Nervous system disorder
(217)
Hereditary disease
(172)
Brain disorder
(110)
Central nervous system disorder
(97)
Endocrine system disorder
(61)
Hypogonadism
(41)
Isolated congenital growth hormone deficiency
(29)
Hereditary endocrine growth disease
(23)
Hypogonadotropic hypogonadism
(15)