Ateleiotic dwarfism

Common Name(s)

Ateleiotic dwarfism

Isolated growth hormone deficiency type IA is an autosomal recessive disorder characterized by severe growth failure (SDS less than -4.5) by 6 months of age, undetectable growth hormone (GH) concentrations, and a tendency to develop antibodies despite an initial good response to rhGH treatment (summary by {2:Alatzoglou et al., 2014}). Genetic Heterogeneity of Isolated Growth Hormone Deficiency See IGHD1B ({617281}) and IGHD2 ({173100}), both caused by mutation in the GH1 gene; IGHD3 ({307200}), caused by mutation in the BTK gene ({300300}); IGHD4 ({618157}), caused by mutation in the GHRHR gene ({139191}); and IGHD5 ({618160}), caused by mutation in the RNPC3 gene ({618016}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ateleiotic dwarfism" for support, advocacy or research.

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.