KEGG DISEASE: Shukla-Vernon syndrome

KEGG

DISEASE: Shukla-Vernon syndrome

Entry

H02622                      Disease

Name

Shukla-Vernon syndrome

Description

Shukla-Vernon syndrome (SHUVER) is a new X-linked syndrome characterized by variable degrees of intellectual disability, seizures, behavioral abnormalities, and dysmorphisms. It has been reported that mutations in BCORL1 are associated with this disease. BCORL1, a transcriptional corepressor, is involved in negative gene regulation through associations with several protein complexes including class II histone deacetylases.

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
   H02622  Shukla-Vernon syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H02622  Shukla-Vernon syndrome

Network

nt06523 Epigenetic regulation by Polycomb complexes

Gene

BCORL1 [HSA:63035] [KO:K26199]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP

Title

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Journal

J Med Genet 50:802-11 (2013)
DOI:10.1136/jmedgenet-2013-101644

Reference

Authors

Shukla A, Girisha KM, Somashekar PH, Nampoothiri S, McClellan R, Vernon HJ

Title

Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.

Journal

Am J Med Genet A 179:870-874 (2019)
DOI:10.1002/ajmg.a.61118

LinkDB

» Japanese version

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