KEGG DISEASE: Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism

KEGG

DISEASE: Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism

Entry

H02962                      Disease

Name

Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism

Description

Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism (IDLDP) is a novel autosomal-dominant syndrome caused by NR4A2 mutations. NR4A2 encodes a nuclear transcription factor and is expressed mainly in the substantia nigra, ventral tegmental area, and limbic areas.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A02  Dystonic disorders
    H02962  Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism

Gene

NR4A2 [HSA:4929] [KO:K08558]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Ramos LLP, Monteiro FP, Sampaio LPB, Costa LA, Ribeiro MDO, Freitas EL, Kitajima JP, Kok F

Title

Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment.

Journal

Clin Case Rep 7:1582-1584 (2019)
DOI:10.1002/ccr3.2260

Reference

Authors

Jesus S, Hinarejos I, Carrillo F, Martinez-Rubio D, Macias-Garcia D, Sanchez-Monteagudo A, Adarmes A, Lupo V, Perez-Duenas B, Mir P, Espinos C

Title

NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism.

Journal

Neurol Genet 7:e543 (2021)
DOI:10.1212/NXG.0000000000000543

LinkDB

» Japanese version

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