SATB2-associated syndrome
Synonyms: SAS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multisystem disorder characterized by moderate to severe developmental delay/intellectual disability (DD/ID) with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), craniofacial and oral features. Hypotonia and feeding difficulties are frequent manifestations, especially during the neonatal period and early childhood. Other supportive findings may include abnormal brain imaging, EEG abnormalities, epilepsy and skeletal anomalies with low bone density.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SATB2-associated syndrome | SAS |
| fr | Syndrome associé à SATB2 | = en |
| de | SATB2-assoziiertes Syndrom | = en |
| es | Síndrome asociado a SATB2 | = en |
| it | Sindrome correlata a SATB2 | = en |
| nl | SATB2-geassocieerd syndroom | = en |
| pt | Síndrome SATB2-associada | |
| pl | Zespół związany z SATB2 | = en |
| cs | Syndrom spojený s SATB2 | = en |
| uk | SATB2-асоційований синдром | = en |
| zh | SATB2基因相关综合征 | = en |
| tr | SATB2-ilişkili sendrom | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612313 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0100147 | E | validated | |
| UMLS | C5243581 | E | validated | |
| MedDRA | 10083270 | 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 (6):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:77830Rare genetic odontologic disease
rare genetic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
Genes
0 direct · 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| SATB2 | ORPHA:576283SATB2-associated syndrome due to a pathogenic variant | Disease-causing germline mutation(s) in | Assessed | HGNC:21637 | ENSG00000119042 | 608148 | 2q33.1 | SATB homeobox 2 | 29023086[PMID]_31021519[PMID] |
| SATB2 | ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement | Role in the phenotype of | Assessed | HGNC:21637 | ENSG00000119042 | 608148 | 2q33.1 | SATB homeobox 2 | 19668335[PMID]_21343628[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 667 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | 1-9 / 100 000 | 4.2 / 100 000 | Worldwide | Value and class | Validated | 29023086[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/576278
- This record as JSON: /data/d/576278.json