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GTR Home > Conditions/Phenotypes > Ateleiotic dwarfism

Ateleiotic dwarfism

Synonyms
Growth hormone deficiency, isolated autosomal recessive; IGHD IA; ILLIG type growth hormone deficiency; Isolated Growth Hormone Deficiency, Type IA; Isolated growth hormone deficiency type 1A; PITUITARY DWARFISM I; Pituitary dwarfism 1; Sexual ateleiotic dwarfism
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Isolated growth hormone deficiency type IA (IGHD1A) 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 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); and IGHD4 (618157), caused by mutation in the GHRHR gene (139191). Isolated growth hormone deficiency-5 (IGHD5) has been reclassified as combined pituitary hormone deficiency-7 (CPHD7; 618160). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GH, GH-N, GHB5, GHN, IGHD1A, IGHD1B, IGHD2, hGH-N, GH1
    Summary: growth hormone 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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