ORPHA:576283
SATB2-associated syndrome due to a pathogenic variant
Synonyms: SATB2-associated 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 SATB2-associated syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SATB2-associated syndrome due to a pathogenic variant | SATB2-associated syndrome due to a point mutation |
| fr | Syndrome associé à SATB2 dû à un variant pathogène | Syndrome associé à SATB2 dû à une mutation ponctuelle |
| de | SATB2-assoziiertes Syndrom durch eine pathogene Variante | |
| es | Síndrome asociado a una variante patogénica del gen SATB2 | Síndrome por una mutación puntual en el gen SATB2 |
| it | Malattia correlata a SATB2 da mutazione patogenetica | Malattia correlata a SATB2 da mutazione puntiforme |
| nl | SATB2-geassocieerd syndroom door een pathogene variant | SATB2-geassocieerd syndroom door een puntmutatie |
| pt | Síndrome SATB2-associada devido a variante patogénica | Síndrome Glass · Síndrome SATB2-associada por mutação pontual |
| pl | Zespół związany z patogennym wariantem SATB2 | = en |
| cs | Syndrom spojený s SATB2 způsobený patogenní variantou | = en |
| uk | SATB2-асоційований синдром, зумовлений патогенним варіантом | SATB2-асоційований синдром внаслідок точкової мутації |
| zh | 致病变异所致SATB2基因相关综合征 | 点突变所致SATB2基因相关综合征 |
| tr | Patojenik varyant nedeniyle SATB2-ilişkili sendrom | Bir nokta mutasyonuna bağlı SATB2-ilişkili sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612313 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| UMLS | C5680358 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:576278SATB2-associated syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare odontological diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SATB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21637 | ENSG00000119042 | 608148 | 2q33.1 | SATB homeobox 2 | 29023086[PMID]_31021519[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
48 annotations · validated 2020-11-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000504 | Abnormality of vision | |
| HP:0001344 | Absent speech | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0011304 | Broad thumb | |
| HP:0000175 | Cleft palate | |
| HP:0000490 | Deeply set eye | |
| HP:0012448 | Delayed myelination | |
| HP:0002307 | Drooling | |
| HP:0000324 | Facial asymmetry | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0040082 | Happy demeanor | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0000938 | Osteopenia | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002360 | Sleep abnormality | |
| HP:0000319 | Smooth philtrum | |
| HP:0000219 | Thin upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0100886 | Abnormality of globe location | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000951 | Abnormality of the skin | |
| HP:0000193 | Bifid uvula | |
| HP:0002608 | Celiac disease | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002015 | Dysphagia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001510 | Growth delay | |
| HP:0000218 | High palate | |
| HP:0001382 | Joint hypermobility | |
| HP:0001601 | Laryngomalacia | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0002465 | Poor speech | |
| HP:0001250 | Seizure | |
| HP:0001773 | Short foot | |
| HP:0000486 | Strabismus | |
| HP:0011147 | Typical absence seizure | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 28139846[PMID]_ 28139846[PMID]_ 28139846[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/576283
- This record as JSON: /data/d/576283.json