KEGG DISEASE: Prieto syndrome

DISEASE: Prieto syndrome

Entry

H02765                      Disease

Name

Prieto syndrome

Description

Prieto syndrome (PRS) is a rare X-linked intellectual disability with variable epilepsy and structural brain abnormalities. It has been reported that mutations in WNK3 cause this syndrome. WNK3 is a chloride and cell volume-sensitive kinase, implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters.

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
H02765 Prieto syndrome

Gene

WNK3 [HSA:65267] [KO:K08867]

Other DBs

ICD-11:

LD90.Y

OMIM:

309610

Reference

PMID:35678782

Authors

Kury S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denomme-Pichon AS, Cogne B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Ounap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Breheret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Perez-Pena H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martinez F, Bezieau S, Kahle KT, Isidor B

Title

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Journal

Genet Med 24:1941-1951 (2022)
DOI:10.1016/j.gim.2022.05.009

Reference

PMID:1673297

Authors

Watty A, Prieto F, Beneyto M, Neugebauer M, Gal A

Title

Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome).

Journal

Am J Med Genet 38:234-9 (1991)
DOI:10.1002/ajmg.1320380213

LinkDB

» Japanese version

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