KEGG   DISEASE: Premature aging syndrome, Penttinen type
Entry
H02870                      Disease                                
Name
Premature aging syndrome, Penttinen type
Description
Premature aging syndrome, Penttinen type (PENTT) is a rare progeroid syndrome characterized by prematurely aged appearance, delayed dental development, acro-osteolysis, diffuse keloid-like lesions, and ocular pterygia. It has been reported that mutations in PDGFRB cause this syndrome. PDGFRB encodes platelet-derived growth factor (PDGF) receptor beta. PDGF receptors are membrane-bound receptor tyrosine kinases important for connective tissue growth.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2B  Syndromes with premature ageing appearance as a major feature
    H02870  Premature aging syndrome, Penttinen type
Gene
PDGFRB [HSA:5159] [KO:K05089]
Other DBs
ICD-11: LD2B
MeSH: C536653
OMIM: 601812
Reference
PMID:30573803
  Authors
Bredrup C, Stokowy T, McGaughran J, Lee S, Sapkota D, Cristea I, Xu L, Tveit KS, Hovding G, Steen VM, Rodahl E, Bruland O, Houge G
  Title
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
  Journal
Eur J Hum Genet 27:574-581 (2019)
DOI:10.1038/s41431-018-0323-z
Reference
PMID:23720404
  Authors
Zufferey F, Hadj-Rabia S, De Sandre-Giovannoli A, Dufier JL, Leheup B, Schweitze C, Bodemer C, Cormier-Daire V, Le Merrer M
  Title
Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome,  Penttinen type.
  Journal
Am J Med Genet A 161A:1786-91 (2013)
DOI:10.1002/ajmg.a.35984
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