isolated growth hormone deficiency type IB

Summary
Synonym
  • IGHD IB
  • congenital IGHD type IB
  • congenital isolated GH deficiency type IB
  • congenital isolated growth hormone deficiency type IB
  • dwarfism of Sindh
Definition
An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.
Super Class
isolated growth hormone deficiency
Related Genes
Displaying entries 11 - 20 of 22 in total
Gene ID Gene Symbol Description Source
3293 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3
3897 L1CAM L1 cell adhesion molecule
4594 MMUT methylmalonyl-CoA mutase
4907 NT5E 5'-nucleotidase ecto
5373 PMM2 phosphomannomutase 2
6296 ACSM3 acyl-CoA synthetase medium chain family member 3
6646 SOAT1 sterol O-acyltransferase 1
8482 SEMA7A semaphorin 7A (JohnMiltonHagen blood group)
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1
10908 PNPLA6 patatin like phospholipase domain containing 6

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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