KEGG   DISEASE: Zaki syndrome
Entry
H02638                      Disease                                
Name
Zaki syndrome
Description
Zaki syndrome is a novel structural syndrome characterized by multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. Mutations in WLS which encodes the Wnt ligand secretion mediator have been identified.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02638  Zaki syndrome
Gene
WLS [HSA:79971] [KO:K27258]
Other DBs
ICD-11: LD2F.Y
OMIM: 619648
Reference
PMID:34587386
  Authors
Chai G, Szenker-Ravi E, Chung C, Li Z, Wang L, Khatoo M, Marshall T, Jiang N, Yang X, McEvoy-Venneri J, Stanley V, Anzenberg P, Lang N, Wazny V, Yu J, Virshup DM, Nygaard R, Mancia F, Merdzanic R, Toralles MBP, Pitanga PML, Puri RD, Hernan R, Chung WK, Bertoli-Avella AM, Al-Sannaa N, Zaki MS, Willert K, Reversade B, Gleeson JG
  Title
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.
  Journal
N Engl J Med 385:1292-1301 (2021)
DOI:10.1056/NEJMoa2033911
LinkDB

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