KEGG   DISEASE: Progeroid laminopathy
Entry
H02677                      Disease                                
Name
Progeroid laminopathy
  Subgroup
Hutchinson-Gilford progeria syndrome [DS:H00601]
Restrictive dermopathy [DS:H00663]
Mandibuloacral dysplasia [DS:H00665]
Description
Laminopathy is a heterogeneous group of inherited disorders resulting from abnormalities of type A lamins. Progeroid laminopathy is a group of the laminopathies that mimics clinical and molecular features of aging. It can be caused by mutations in the A-type lamin gene (LMNA), altering prelamin A itself, or in ZMPSTE24, encoding an endoprotease involved in its processing. Apart from some atypical progeroid forms there are three major syndromes: Hutchinson Gilford progeria syndrome [DS:H00601], Restrictive dermopathy [DS:H00665], Mandibuloacral dysplasia [DS:H00663].
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
    H02677  Progeroid laminopathy
Gene
LMNA [HSA:4000] [KO:K12641]
ZMPSTE24 [HSA:10269] [KO:K06013]
Drug
Lonafarnib [DR:D04768] (LMNA mutation, ZMPSTE24 mutation)
Other DBs
ICD-11: LD2B
MeSH: D000083083
Reference
PMID:32799420
  Authors
Marcelot A, Worman HJ, Zinn-Justin S
  Title
Protein structural and mechanistic basis of progeroid laminopathies.
  Journal
FEBS J 288:2757-2772 (2021)
DOI:10.1111/febs.15526
Reference
PMID:16364671
  Authors
Jacob KN, Garg A
  Title
Laminopathies: multisystem dystrophy syndromes.
  Journal
Mol Genet Metab 87:289-302 (2006)
DOI:10.1016/j.ymgme.2005.10.018
Reference
PMID:23804595
  Authors
Starke S, Meinke P, Camozzi D, Mattioli E, Pfaeffle R, Siekmeyer M, Hirsch W, Horn LC, Paasch U, Mitter D, Lattanzi G, Wehnert M, Kiess W
  Title
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
  Journal
Aging (Albany NY) 5:445-59 (2013)
DOI:10.18632/aging.100566
LinkDB

» Japanese version

DBGET integrated database retrieval system