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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
External Links
Disease Ontology
DOID:0060873
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 22 of 22 in total
Gene ID Gene Symbol Description Source
55512 SMPD3 sphingomyelin phosphodiesterase 3
148738 HJV hemojuvelin BMP co-receptor
Related Glycoprotein
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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