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GTR Home > Conditions/Phenotypes > Isolated growth hormone deficiency, type 4

Isolated growth hormone deficiency, type 4

Synonyms
DWARFISM OF SINDH; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV

Summary

Isolated growth hormone deficiency type IV (IGHD4) is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GHRFR, GRFR, IGHD1B, IGHD4, GHRHR
    Summary: growth hormone releasing hormone receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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