ORPHA:506358
Gabriele-de Vries syndrome
Synonyms: YY1 haploinsufficiency syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities, and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac, and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gabriele-de Vries syndrome | YY1 haploinsufficiency syndrome |
| fr | Syndrome de Gabriele-de Vries | Syndrome par haploinsuffisance de YY1 |
| de | Gabriele-De Vries-Syndrom | YY1-Haploinsuffizienz-Syndrom |
| es | Síndrome de Gabriele-de Vries | Síndrome de haploinsuficiencia de YY1 |
| it | Sindrome di Gabriele de Vries | |
| nl | Syndroom van Gabriele-de Vries | Syndroom door YY1-haploinsufficiëntie |
| pt | Síndrome Gabriele de Vries | |
| pl | Zespół Gabrielego i de Vriesa | Zespół haploinsuficjencji YY1 |
| cs | Gabrielův-de Vriesův syndrom | Syndrom haploinsuficience YY1 · Gabriele-de Vriesův syndrom |
| uk | Синдром Габріеле-де Вріса | Синдром гаплонедостатності YY1 |
| zh | Gabriele-de Vries综合征 | YY1单倍不足综合症 |
| tr | Gabriele-de Vries sendromu | YY1 haploins yeterlilik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617557 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0044738 | E | validated | |
| UMLS | C4479652 | 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 (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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| YY1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12856 | ENSG00000100811 | 600013 | 14q32.2 | YY1 transcription factor | 28575647[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 28575647[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28575647[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.
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HPO phenotypes
73 annotations · validated 2020-01-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000337 | Broad forehead | |
| HP:0000414 | Bulbous nose | |
| HP:0001263 | Global developmental delay | |
| HP:0000272 | Malar flattening | |
| HP:0000179 | Thick lower lip vermilion | |
| Frequent (79-30%) | ||
| HP:0011339 | Abnormality of upper lip vermillion | |
| HP:0000708 | Atypical behavior | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000324 | Facial asymmetry | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001252 | Hypotonia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0000629 | Periorbital fullness | |
| HP:0000307 | Pointed chin | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001344 | Absent speech | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000739 | Anxiety | |
| HP:0000483 | Astigmatism | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000729 | Autistic behavior | |
| HP:0003187 | Breast hypoplasia | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0012448 | Delayed myelination | |
| HP:0005684 | Distal arthrogryposis | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0000268 | Dolichocephaly | |
| HP:0001332 | Dystonia | |
| HP:0010316 | Ebstein anomaly of the tricuspid valve | |
| HP:0002032 | Esophageal atresia | |
| HP:0000297 | Facial hypotonia | |
| HP:0006094 | Finger joint hypermobility | |
| HP:0002236 | Frontal upsweep of hair | |
| HP:0002171 | Gliosis | |
| HP:0001822 | Hallux valgus | |
| HP:0000218 | High palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0000974 | Hyperextensible skin | |
| HP:0000540 | Hypermetropia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000821 | Hypothyroidism | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0007678 | Lacrimal duct stenosis | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0003006 | Neuroblastoma | |
| HP:0010499 | Patellar subluxation | |
| HP:0001655 | Patent foramen ovale | |
| HP:0000508 | Ptosis | |
| HP:0002719 | Recurrent infections | |
| HP:0001852 | Sandal gap | |
| HP:0011344 | Severe global developmental delay | |
| HP:0001518 | Small for gestational age | |
| HP:0045075 | Sparse eyebrow | |
| HP:0011311 | Sydney crease | |
| HP:0000506 | Telecanthus | |
| HP:0001337 | Tremor | |
| HP:0000074 | Ureteropelvic junction obstruction | |
| HP:0002119 | Ventriculomegaly | |
| HP:0002515 | Waddling gait | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 31145572[PMID]_28575647[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/506358
- This record as JSON: /data/d/506358.json