KEGG DISEASE: Developmental delay with variable intellectual disability and dysmorphic facies

DISEASE: Developmental delay with variable intellectual disability and dysmorphic facies

Entry

H02618                      Disease

Name

Developmental delay with variable intellectual disability and dysmorphic facies

Description

Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF) is a neurodevelopmental syndrome caused by mutations in JARID2. JARID2, which is expressed in human neurons, is a regulator of histone methyltransferase complexes.

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
   H02618  Developmental delay with variable intellectual disability and dysmorphic facies
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H02618  Developmental delay with variable intellectual disability and dysmorphic facies

Network

nt06523 Epigenetic regulation by Polycomb complexes

Gene

JARID2 [HSA:3720] [KO:K11478]

Other DBs

ICD-11:

LD90.Y

OMIM:

620098

Reference

PMID:33077894

Authors

Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM

Title

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

Journal

Genet Med 23:374-383 (2021)
DOI:10.1038/s41436-020-00992-z

Reference

PMID:35887345

Authors

Verberne EA, van der Laan L, Haghshenas S, Rooney K, Levy MA, Alders M, Maas SM, Jansen S, Lieden A, Anderlid BM, Rafael-Croes L, Campeau PM, Chaudhry A, Koolen DA, Pfundt R, Hurst ACE, Tran-Mau-Them F, Bruel AL, Lambert L, Isidor B, Mannens MMAM, Sadikovic B, Henneman P, van Haelst MM

Title

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.

Journal

Int J Mol Sci 23:ijms23148001 (2022)
DOI:10.3390/ijms23148001

LinkDB

» Japanese version

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