KEGG   DISEASE: Davis-Wells syndrome
Entry
H03071                      Disease                                
Name
Davis-Wells syndrome
Description
Davis-Wells syndrome (DVWS) is a novel neurodevelopmental syndrome characterized by facial dysmorphism and multisystem congenital abnormalities. It has been reported that biallelic loss-of-function mutations in CACHD1 cause this syndrome. CACHD1 encodes a protein that interacts directly with voltage-gated calcium channels.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H03071  Davis-Wells syndrome
Gene
CACHD1 [HSA:57685] [KO:K28855]
Other DBs
ICD-11: LD90.Y
OMIM: 621566
Reference
PMID:38158856
  Authors
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogne B, Salick MR, Kaykas A, Eggan K, Capra V, Bezieau S, Davis EE, Wells MF
  Title
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
  Journal
Genet Med 26:101057 (2024)
DOI:10.1016/j.gim.2023.101057
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