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 1 - 10 of 28 in total
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
176 ACAN aggrecan
249 ALPL alkaline phosphatase, biomineralization associated
353 APRT adenine phosphoribosyltransferase
847 CAT catalase
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1
1604 CD55 CD55 molecule (Cromer blood group)
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
2131 EXT1 exostosin glycosyltransferase 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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Last updated: August 19, 2024