KEGG   DISEASE: ENDOVE syndrome
Entry
H02786                      Disease                                
Name
ENDOVE syndrome
  Subgroup
ENDOVE syndrome, limb-only type (ENDOVESL)
ENDOVE syndrome, limb-brain type (ENDOVESLB)
Description
ENDOVE syndrome is a complex limb malformation featuring mesomelic shortening, syndactyly and ventral nails. Homozygous non-coding deletions located upstream of the engrailed-1 gene (EN1) have been identified in patients. EN1 is a gene critical for dorsal-ventral patterning in the limb. It has also been reported that loss-of-function mutations in EN1 result in a recessively inherited combined limb-brain malformation. The patients are with a limb phenotype, and in addition, a severe neurological condition characterized by spasticity, seizures, and complete aplasia of the cerebellum.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02786  ENDOVE syndrome
Gene
EN1 [HSA:2019] [KO:K09319]
Other DBs
ICD-11: LD24.9
OMIM: 619217 619218
Reference
PMID:33568816
  Authors
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schopflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenco CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, Chiesa C, Niel-Butschi F, Wittler L, Timmermann B, Spielmann M, Robson MI, Ringel A, Heinrich V, Cova G, Andrey G, Prada-Medina CA, Pescini-Gobert R, Unger S, Bonafe L, Grote P, Rivolta C, Mundlos S, Superti-Furga A
  Title
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
  Journal
Nature 592:93-98 (2021)
DOI:10.1038/s41586-021-03208-9
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