KEGG   DISEASE: Fischer-Zirnsak progeroid syndrome
Entry
H02916                      Disease                                
Name
Fischer-Zirnsak progeroid syndrome
Description
Fischer-Zirnsak progeroid syndrome (FZPS) is a novel developmental disorder characterized by intrauterine growth retardation, generalized lipodystrophy, and additional progeroid features. It has been reported that mutations in SUPT7L cause this syndrome. SUPT7L encodes a component of the transcriptional coactivator complex STAGA, a nuclear localized multiprotein complex playing a role in various intracellular pathways.
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
    H02916  Fischer-Zirnsak progeroid syndrome
Gene
SUPT7L [HSA:9913] [KO:K11316]
Other DBs
ICD-11: LD2B
OMIM: 621130
Reference
PMID:38592547
  Authors
Kopp J, Koch LA, Lyubenova H, Kuchler O, Holtgrewe M, Ivanov A, Dubourg C, Launay E, Brachs S, Mundlos S, Ehmke N, Seelow D, Fradin M, Kornak U, Fischer-Zirnsak B
  Title
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
  Journal
Hum Genet 143:683-694 (2024)
DOI:10.1007/s00439-024-02669-y
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