KEGG   DISEASE: Inflammatory poikiloderma with hair abnormalities and acral keratoses
Entry
H02713                      Disease                                
Name
Inflammatory poikiloderma with hair abnormalities and acral keratoses
Description
Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is a novel autosomal recessive dermatological condition caused by mutations in LTV1. LTV1 encodes one of the ribosome biogenesis factors that promote the assembly of the small ribosomal subunit.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H02713  Inflammatory poikiloderma with hair abnormalities and acral keratoses
Gene
LTV1 [HSA:84946] [KO:K14798]
Other DBs
ICD-11: LD27.Y
OMIM: 620199
Reference
PMID:34999892
  Authors
Han JH, Ryan G, Guy A, Liu L, Quinodoz M, Helbling I, Lai-Cheong JE, Barwell J, Folcher M, McGrath JA, Moss C, Rivolta C
  Title
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
  Journal
Hum Mol Genet 31:1970-1978 (2022)
DOI:10.1093/hmg/ddab368
LinkDB

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