Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic neurological disorder characterized by early-onset global developmental delay, intellectual disability, speech and language impairment, early-onset hypotonia and movement abnormalities (including dystonia and parkinsonism) that are usually L-dopa responsive. Various types of seizures (including tonic-clonic, focal, generalized and absence seizures, infantile spasms and rolandic epilepsy) and behavioral problems (including autism, attention deficit hyperactivity disorder, tantrums, anxiety, and hyposensitivity to temperature and pain) are also reported in the majority of the patients. The severity of the symptoms varies, ranging from mild to severe. Mildly affected individuals exhibit normal early development until the first symptoms appear in infancy including delayed speech and mild intellectual disability. Additional clinical features may include abnormal eye movements, trichotillomania, feeding and sleeping difficulties. Patients may harbor 2q24 microdeletion including the <i>NR4A2</i> gene or have <i>de novo</i> mutations in this gene.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome | |
| fr | Syndrome de retard développemental-troubles du language-dystonie dopa sensible-parkinsonisme | |
| de | Entwicklungsverzögerung-Sprachbehinderung-Dopa-responsive Dystonie-Parkinsonismus-Syndrom | |
| es | Síndrome de retraso del desarrollo-trastorno del lenguaje-distonía dopa-sensible-parkinsonismo | |
| it | Sindrome ritardo dello sviluppo-deficit del linguaggio-distonia dopa-sensibile-parkinsonismo | |
| nl | Neurologische ontwikkelingsachterstand - taalstoornis - doparesponsieve dystonie - parkinsonisme-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-perturbação da linguagem-distonia-parkinsonismo sensível a dopamina | |
| pl | Zespół z opóźnieniem rozwojowym, zaburzeniami mowy, dystonią-parkinsonizmem wrażliwym na dopę | |
| cs | Syndrom zahrnující vývojové opoždění, poruchu řeči, dopa responzivní dystonii a parkinsonizmus | |
| uk | Синдром затримки розвитку-порушення мови-дофа-чутливої дистонії-паркінсонізму |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619911 | BTNT | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| MONDO | 0859257 | E | validated | |
| MONDO | 859257 | E | validated | |
| UMLS | C5925123 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:370106Rare disorder with dystonia and other neurologic or systemic manifestation
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| TBR1 | ORPHA:1617Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion | Candidate gene tested in | Not yet assessed | HGNC:11590 | ENSG00000136535 | 604616 | 2q24.2 | T-box brain transcription factor 1 | 24458984[PMID] |
| NR4A2 | ORPHA:660012Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:7981 | ENSG00000153234 | 601828 | 2q24.1 | nuclear receptor subfamily 4 group A member 2 | 32366965[PMID] |
| NR4A2 | ORPHA:1617Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion | Role in the phenotype of | Assessed | HGNC:7981 | ENSG00000153234 | 601828 | 2q24.1 | nuclear receptor subfamily 4 group A member 2 | 32366965[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 31428396[PMID]_31922365[PMID]_32366965[PMID]_ 33585677[PMID]_28544326[PMID]_29770430[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31428396[PMID]_31922365[PMID]_32366965[PMID]_ 33585677[PMID]_28544326[PMID]_29770430[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/660017
- This record as JSON: /data/d/660017.json