Witteveen-Kolk syndrome
Synonyms: SIN3A-related intellectual disability syndrome · WITKOS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Witteveen-Kolk syndrome | SIN3A-related intellectual disability syndrome · WITKOS |
| fr | Syndrome de Witteveen-Kolk | Syndrome de déficience intellectuelle associé à SIN3A · WITKOS |
| de | Witteveen-Kolk-Syndrom | Intelligenzminderung-Syndrom, SIN3A-assoziiertes · WITKOS |
| es | Síndrome de Witteveen-Kolk | |
| it | Sidrome di Witteveen-Kolk | Sindrome da disabilità intellettiva correlata a SIN3A · WITKOS |
| nl | Syndroom van Witteveen-Kolk | SIN3A-gerelateerde intellectuele achterstand-syndroom · WITKOS |
| pt | Síndrome Witteveen-Kolk | Síndrome de deficiência intelectual relacionada ao SIN3A |
| pl | Zespół Witteveen i Kolk | = en |
| cs | SIN3A-vázaná mentální retardace | = en |
| uk | Синдром Віттевіна-Колька | Синдром інтелектуальної недостатності, повязаний з SIN3A · WITKOS |
| zh | SIN3A相关智力障碍综合征 | = en |
| tr | SIN3A-ilişkili zihinsel yetersizlik sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613406 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0044699 | E | validated | |
| UMLS | C4310804 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; 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 |
|---|---|---|---|---|---|---|---|---|---|
| SIN3B | ORPHA:500166SIN3-related intellectual disability syndrome due to a point mutation | 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 | ORPHA:500166SIN3-related intellectual disability syndrome due to a point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:19353 | ENSG00000169375 | 607776 | 15q24.2 | SIN3 transcription regulator family member A | 27399968[PMID] |
| SIN3A | ORPHA:9406515q24 microdeletion syndrome | Role in the phenotype of | Assessed | HGNC:19353 | ENSG00000169375 | 607776 | 15q24.2 | SIN3 transcription regulator family member A | 27399968[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 27399968[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27399968[PMID] |
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/500163
- This record as JSON: /data/d/500163.json