isolated growth hormone deficiency

Summary
Synonym
  • IGHD
  • congenital IGHD
  • congenital isolated GH deficiency
  • congenital isolated growth hormone deficiency
  • familial isolated growth hormone deficiency
  • non-acquired isolated growth hormone deficiency
Definition
A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.
Super Class
hypopituitarism
Related Genes
Displaying entries 21 - 29 of 29 in total
Gene ID Gene Symbol Description Source
6646 SOAT1 sterol O-acyltransferase 1
8482 SEMA7A semaphorin 7A (JohnMiltonHagen blood group)
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1
10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
10908 PNPLA6 patatin like phospholipase domain containing 6
55512 SMPD3 sphingomyelin phosphodiesterase 3
64131 XYLT1 xylosyltransferase 1
79644 SRD5A3 steroid 5 alpha-reductase 3
148738 HJV hemojuvelin BMP co-receptor

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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