isolated growth hormone deficiency type IA

Summary
Synonym
  • IGHD IA
  • Illig-type growth hormone deficiency
  • autosomal recessive isolated growth hormone deficiency
  • pituitary dwarfism I
  • primordial dwarfism
  • sexual ateleiotic dwarfism
Definition
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.
Super Class
isolated growth hormone deficiency
Related Genes
Displaying entries 1 - 10 of 22 in total
Gene ID Gene Symbol Description Source
128 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
412 STS steroid sulfatase
960 CD44 CD44 molecule (IN blood group)
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
1604 CD55 CD55 molecule (Cromer blood group)
1890 TYMP thymidine phosphorylase
2619 GAS1 growth arrest specific 1
2710 GK glycerol kinase
2817 GPC1 glypican 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024