ORPHA:251028
SATB2-associated syndrome due to a chromosomal rearrangement
Synonyms: 2q33.1 microdeletion syndrome · Del(2)(q33.1) · Monosomy 2q33.1
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under SATB2-associated syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SATB2-associated syndrome due to a chromosomal rearrangement | 2q33.1 microdeletion syndrome · Del(2)(q33.1) · Monosomy 2q33.1 |
| fr | Syndrome associé à SATB2 dû à un réarrangement chromosomique | Del(2)(q33.1) · Monosomie 2q33.1 · Syndrome de microdélétion 2q33.1 |
| de | SATB2-assoziiertes-Syndrom durch chromosomales Rearrangement | Del(2)(q33.1) · Mikrodeletionssyndrom 2q33.1 · Monosomie 2q33.1 |
| es | Síndrome asociado a SATB2 por un reordenamiento cromosómico | Síndrome de microdeleción 2q33.1 · Del(2)(q33.1) · Monosomía 2q33.1 |
| it | Sindrome da microdelezione 2q33.1 | Del(2)(q33.1) · Monosomia 2q33.1 |
| nl | SATB2-geassocieerd syndroom door een chromosomale herschikking | 2q33.1-microdeletiesyndroom · Del(2)(q33.1) · Monosomie 2q33.1 |
| pt | Síndrome associado a SATB2 por rearranjo cromossómico | Monossomia 2q33.1 · Síndrome de microdeleção 2q33.1 |
| pl | Zespół mikrodelecji 2q33.1 | Del(2)(q33.1) · Monosomia 2q33.1 |
| cs | Syndrom mikrodelece 2q33.1 | Del(2)(q33.1) · Monozomie 2q33.1 |
| uk | SATB2-асоційований синдром внаслідок хромосомної перебудови | Синдром мікроделеції 2q33.1 · Del(2)(q33.1) · Моносомія 2q33.1 |
| zh | 染色体重排所致SATB2蛋白相关综合征 | 2q33.1微缺失综合征 |
| tr | Kromozomal yeniden düzenlemeye bağlı SATB2-ilişkili sendrom | Del (2) (q33.1) · Monozomi 2q33.1 · 2q33.1 mikrodelesyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612313 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0016653 | E | validated | |
| UMLS | C4706258 | 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 (2):
- ORPHA:262010Partial deletion of the long arm of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SATB2 | Role in the phenotype of | Assessed | HGNC:21637 | ENSG00000119042 | 608148 | 2q33.1 | SATB homeobox 2 | 19668335[PMID]_21343628[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 21343628[PMID] | |
| Point prevalence | Unknown | — | 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
82 annotations · validated 2020-11-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001344 | Absent speech | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000718 | Aggressive behavior | |
| HP:0000708 | Atypical behavior | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0000175 | Cleft palate | |
| HP:0008734 | Decreased testicular size | |
| HP:0002307 | Drooling | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000540 | Hypermetropia | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0011220 | Prominent forehead | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0011344 | Severe global developmental delay | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0002815 | Abnormality of the knee | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0011339 | Abnormality of upper lip vermillion | |
| HP:0006349 | Agenesis of permanent teeth | |
| HP:0010055 | Broad hallux | |
| HP:0011304 | Broad thumb | |
| HP:0002136 | Broad-based gait | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000589 | Coloboma | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000028 | Cryptorchidism | |
| HP:0000620 | Dacryocystitis | |
| HP:0000490 | Deeply set eye | |
| HP:0000678 | Dental crowding | |
| HP:0000689 | Dental malocclusion | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000712 | Emotional lability | |
| HP:0020045 | Esodeviation | |
| HP:0003241 | External genital hypoplasia | |
| HP:0000324 | Facial asymmetry | |
| HP:0002213 | Fine hair | |
| HP:0005469 | Flat occiput | |
| HP:0002007 | Frontal bossing | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0001276 | Hypertonia | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0000276 | Long face | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0002061 | Lower limb spasticity | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000256 | Macrocephaly | |
| HP:0000691 | Microdontia | |
| HP:0000054 | Micropenis | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0000275 | Narrow face | |
| HP:0000160 | Narrow mouth | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000938 | Osteopenia | |
| HP:0000201 | Pierre-Robin sequence | |
| HP:0002591 | Polyphagia | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0012428 | Prominent calcaneus | |
| HP:0004482 | Relative macrocephaly | |
| HP:0000711 | Restlessness | |
| HP:0001250 | Seizure | |
| HP:0000742 | Self-mutilation | |
| HP:0001773 | Short foot | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0000322 | Short philtrum | |
| HP:0001238 | Slender finger | |
| HP:0200055 | Small hand | |
| HP:0001762 | Talipes equinovarus | |
| HP:0002982 | Tibial bowing | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000445 | Wide nose | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 19668335[PMID]_21343628[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251028
- This record as JSON: /data/d/251028.json