ORPHA:1617
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Synonyms: Del(2)(q24) · Monosomy 2q24
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion | Del(2)(q24) · Monosomy 2q24 |
| fr | Syndrome de retard développemental-troubles du language-dystonie dopa sensible-parkinsonisme dû à la microdéletion 2q24 | Del(2)(q24) · Monosomie 2q24 |
| de | Syndrom der Entwicklungsverzögerung mit Sprachstörung, Dopa-reaktiver Dystonie und Parkinsonismus durch Mikrodeletion 2q24 | Del(2)(q24) · Mikrodeletionssyndrom 2q24 · Monosomie 2q24 |
| es | Síndrome de retraso del desarrollo-trastorno del lenguaje-distonía dopa-sensible-parkinsonismo por una microdeleción 2q24 | Del(2)(q24) · Monosomía 2q24 |
| it | Sindrome ritardo dello sviluppo-deficit del linguaggio-distonia dopa-sensibile-parkinsonismo da microdelezione 2q24 | Del(2)(q24) · Monosomia 2q24 |
| nl | Ontwikkelingsachterstand - taalstoornis - doparesponsieve dystonie - parkinsonisme-syndroom door 2q24-microdeletie | Del(2)(q24) · Monosomie 2q24 |
| pt | Síndrome de perturbação do desenvolvimento-perturbação da linguagem-distonia-parkinsonismo dopamina sensível | Del(2)(q24) · Monossomia 2q24 |
| pl | Zespół mikrodelecji 2q24 | Del(2)(q24) · Monosomia 2q24 · Zespół z opóźnieniem rozwoju, zaburzeniami mowy, dystonią-parkinsonizmem wrażliwym na dopę wskutek mikrodelecji 2q24 |
| cs | Mikrodeleční syndrom 2q24 | Del(2)(q24) · Monozomie 2q24 |
| uk | Синдром затримки розвитку-порушення мови-дофа-чутливої дистонії-паркінсонізму внаслідок мікроделеції 2q24 | Del(2)(q24) · Моносомія 2q24 |
| zh | 2q24微缺失综合征 | 2q24单体 |
| tr | 2q24 mikrodelesyon sendromu | Del (2) (q24) · Monozomi 2q24 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.20 | NTBT | index | validated |
| MONDO | 0015566 | E | validated | |
| MeSH | C538316 | E | validated | |
| UMLS | C2931816 | E | validated | |
| GARD | 3746 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:660017Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBR1 | Candidate gene tested in | Not yet assessed | HGNC:11590 | ENSG00000136535 | 604616 | 2q24.2 | T-box brain transcription factor 1 | 24458984[PMID] |
| NR4A2 | Role in the phenotype of | Assessed | HGNC:7981 | ENSG00000153234 | 601828 | 2q24.1 | nuclear receptor subfamily 4 group A member 2 | 32366965[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
28 annotations · validated 2016-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000525 | Abnormality iris morphology | |
| HP:0000708 | Atypical behavior | |
| HP:0010078 | Bullet-shaped distal phalanx of the hallux | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001188 | Hand clenching | |
| HP:0001249 | Intellectual disability | |
| HP:0100807 | Long fingers | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000470 | Short neck | |
| HP:0001518 | Small for gestational age | |
| HP:0001770 | Toe syndactyly | |
| Frequent (79-30%) | ||
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0000729 | Autistic behavior | |
| HP:0000518 | Cataract | |
| HP:0000589 | Coloboma | |
| HP:0000316 | Hypertelorism | |
| HP:0000568 | Microphthalmia | |
| HP:0000322 | Short philtrum | |
| HP:0000274 | Small face | |
| Occasional (29-5%) | ||
| HP:0002871 | Central apnea | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 2121576[PMID]_16523518[PMID]_7717414[PMID]_4009646[PMID]_24924433[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1617
- This record as JSON: /data/d/1617.json