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isolated growth hormone deficiency type IA

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Disease Overview

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.

Synonyms

  • Growth hormone deficiency, isolated autosomal recessive
  • Growth hormone deficiency, isolated, autosomal recessive
  • IGHD 1A
  • IGHD IA
  • IGHD1A
  • ILLIG type growth hormone deficiency
  • Illig-type Growth hormone deficiency
  • Illig-type growth hormone deficiency
  • autosomal recessive isolated growth hormone deficiency
  • congenital IGHD
  • congenital IGHD type IA
  • congenital isolated GH deficiency
  • congenital isolated GH deficiency type IA
  • congenital isolated growth hormone deficiency
  • congenital isolated growth hormone deficiency type IA
  • growth hormone deficiency, isolated, type IA
  • isolated Growth hormone deficiency, type 1A
  • isolated growth hormone deficiency type 1A
  • isolated growth hormone deficiency type IA
  • isolated growth hormone deficiency, type IA
  • non-acquired isolated growth hormone deficiency
  • pituitary dwarfism 1
  • pituitary dwarfism I
  • primordial dwarfism
  • sexual ateleiotic dwarfism
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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