progeria

Summary
Synonym
  • HGPS
  • Hutchinson Gilford syndrome
  • Hutchinson-Gilford Progeria syndrome
  • Hutchinson-Gilford disease
Definition
A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.
Super Class
autosomal dominant disease progeroid syndrome
External Links
Related Genes
Displaying entries 11 - 20 of 28 in total
Gene ID Gene Symbol Description Source
2224 FDPS farnesyl diphosphate synthase
2539 G6PD glucose-6-phosphate dehydrogenase
2645 GCK glucokinase
2678 GGT1 gamma-glutamyltransferase 1
2739 GLO1 glyoxalase I
2990 GUSB glucuronidase beta
3383 ICAM1 intercellular adhesion molecule 1
4968 OGG1 8-oxoguanine DNA glycosylase
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
50721 Sirt6 sirtuin 6
Related Glycoprotein
Displaying entry 21 - 21 of 21 in total
UniProt ID Protein Name Source
Q9UEF7 Klotho

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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