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intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism

MONDO:0859257

Overview

GeneticsAutosomal dominant · NR4A2 (chr 2)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: EMG: positive sharp waves, Decreased CSF homovanillic acid concentration, Mild intellectual disability, and Parkinsonism and others; and common findings: Bilateral tonic-clonic seizure, Resting tremor, Clumsiness, and Delayed speech and language development and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Bilateral tonic-clonic seizure, Resting tremor, Clumsiness

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NR4A2 encodes nuclear receptor subfamily 4 group A member 2 (598 aa). Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. Highest expression in Ovary (145.8 TPM) and Nerve Tibial (91.0 TPM).

Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism is associated with mutations in the NR4A2 gene on chromosome 2.

The NR4A2 protein participates in PIAS4 SUMOylates NR4A2 with SUMO2,3 pathway.

NR4A2 is classified as a druggable target (Druggable Genome, Nuclear Hormone Receptor, Transcription Factor, and Transcription Factor Complex categories) with score 13.1.

Diagnosis

Genetic testing for NR4A2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 10 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism.

4 publications have been identified in PubMed for intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Liang N (2025). [PMID: 41019763](https://pubmed.ncbi.nlm.nih.gov/41019763/). *Frontiers in genetics*. [Case Report / Case Series]
Blázquez A (2025). [PMID: 40071278](https://pubmed.ncbi.nlm.nih.gov/40071278/). *Front Psychiatry*. [Basic Science / Preclinical]
Gabaldon-Albero A (2024). [PMID: 38791237](https://pubmed.ncbi.nlm.nih.gov/38791237/). *Int J Mol Sci*. [Review / Meta-Analysis]
Guo Y (2024). [PMID: 39300745](https://pubmed.ncbi.nlm.nih.gov/39300745/). *Aging Cell*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619911

Orphanet

European rare disease database

Orphanet:660017

Questions for Your Care Team

→Should I pursue genetic testing for NR4A2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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