ORPHA:500166
SIN3-related intellectual disability syndrome due to a point mutation
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
This disease is described under Witteveen-Kolk syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SIN3-related intellectual disability syndrome due to a point mutation | |
| fr | Syndrome de déficience intellectuelle associé à SIN3 dû à une mutation ponctuelle | |
| de | Intelligenzminderung-Syndrom, SIN3A-assoziiertes | |
| es | Síndrome de discapacidad intelectual asociado al gen SIN3A por una mutación puntual | |
| it | Disabilità intellettiva da mutazione puntiforme di SIN3A | |
| nl | SIN3A-gerelateerde intellectuele achterstand-syndroom door puntmutatie | |
| pt | Síndrome de perturbação do desenvolvimento intelectual por mutação pontual SIN3A-relacionada | |
| pl | Zespół niepełnosprawności intelektualnej uwarunkowany mutacją punktową SIN3A | |
| cs | Mentální retardace z bodové mutace SIN3A | |
| uk | SIN3-повязаний синдром інтелектуальної недостатності, зумовлений точковою мутацією | |
| zh | SIN3A点突变导致的智力障碍综合征 | |
| tr | Nokta mutasyonu nedeniyle SIN3A ile zihinsel yetersizlik sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613406 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0044700 | E | validated | |
| UMLS | C5925038 | 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:500163Witteveen-Kolk syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SIN3B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19354 | ENSG00000127511 | 607777 | 19p13.11 | SIN3 transcription regulator family member B | 33811806[PMID] |
| SIN3A | Disease-causing germline mutation(s) in | Assessed | HGNC:19353 | ENSG00000169375 | 607776 | 15q24.2 | SIN3 transcription regulator family member A | 27399968[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
20 annotations · validated 2020-03-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0001256 | Intellectual disability, mild | |
| Frequent (79-30%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000729 | Autistic behavior | |
| HP:0040195 | Decreased head circumference | |
| HP:0000365 | Hearing impairment | |
| HP:0001382 | Joint hypermobility | |
| HP:0032059 | Mild malformation of cortical development | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0030084 | Clinodactyly | |
| HP:0000722 | Compulsive behaviors | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0002213 | Fine hair | |
| HP:0001808 | Fragile nails | |
| HP:0001250 | Seizure | |
| HP:0000736 | Short attention span | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27399968[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/500166
- This record as JSON: /data/d/500166.json