KEGG   DISEASE: Dworschak-Punetha neurodevelopmental syndrome
Entry
H02688                      Disease                                
Name
Dworschak-Punetha neurodevelopmental syndrome
Description
Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) is a novel neurodevelopmental syndrome mainly comprising developmental delay, brain, and eye anomalies. It has been reported that mutations in PLXNA1 cause this disease. PLXNA1 encodes plexin A1, a transmembrane protein highly expressed in the developing nervous system.
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
   H02688  Dworschak-Punetha neurodevelopmental syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06541  Cytoskeleton in neurons
   H02688  Dworschak-Punetha neurodevelopmental syndrome
Network
nt06541 Cytoskeleton in neurons
Gene
PLXNA1 [HSA:5361] [KO:K06820]
Other DBs
ICD-11: LD90.Y
OMIM: 619955
Reference
PMID:34054129
  Authors
Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Heron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz O, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H
  Title
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
  Journal
Genet Med 23:1715-1725 (2021)
DOI:10.1038/s41436-021-01196-9
Reference
PMID:28464511
  Authors
Park K, Seltzer LE, Tuttle E, Mirzaa GM, Paciorkowski AR
  Title
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.
  Journal
Am J Med Genet A 173:1951-1954 (2017)
DOI:10.1002/ajmg.a.38236
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