17p11.2 microduplication syndrome
Synonyms: Potocki-Lupski syndrome · Trisomy 17p11.2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 17p11.2 microduplication syndrome | Potocki-Lupski syndrome · Trisomy 17p11.2 |
| fr | Syndrome de microduplication 17p11.2 | Syndrome de Potocki-Lupski · Trisomie 17p11.2 |
| de | Mikroduplikationssyndrom 17p11.2 | Potocki-Lupski-Syndrom · Trisomie 17p11.2 |
| es | Síndrome de microduplicación 17p11.2 | Síndrome de Potocki-Lupski · Trisomía 17p11.2 |
| it | Sindrome da microduplicazione 17p11.2 | Sindrome di Potocki-Lupski · Trisomia 17p11.2 |
| nl | 17p11.2-microduplicatiesyndroom | Syndroom van Potocki-Lupski · Trisomie 17p11.2 |
| pt | Síndrome de microduplicação 17p11.2 | Duplicação 17p11.2 · Trissomia 17p11.2 |
| pl | Zespół mikroduplikacji 17p11.2 | Trisomia 17p11.2 · Zespół Potockiego i Lupskiego |
| cs | Syndrom 17p11.2 mikroduplikace | Potocké-Lupského syndrom · Trizomie 17p11.2 · Potocki-Lupského syndrom |
| uk | Синдром мікродуплікації 17p11.2 | Синдром Потоцького-Лупського · Трисомія 17p11.2 |
| zh | 17p11.2 微重复综合征 | Potocki-Lupski综合征 |
| tr | 17p11.2 mikroduplikasyon sendromu | Trizomi 17p11.2 · Potocki-Lupski sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610883 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.G1 | NTBT | index | validated |
| MONDO | 0012574 | E | validated | |
| MeSH | C538355 | E | validated | |
| UMLS | C2931246 | E | validated | |
| GARD | 10145 | 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 (3):
- 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 - ORPHA:262803Partial duplication of the short arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAI1 | Role in the phenotype of | Assessed | HGNC:9834 | ENSG00000108557 | 607642 | 17p11.2 | retinoic acid induced 1 | 20188345[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 170 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
HPO phenotypes
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0000600 | Abnormality of the pharynx | |
| HP:0002381 | Aphasia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0001260 | Dysarthria | |
| HP:0010529 | Echolalia | |
| HP:0002474 | Expressive language delay | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0010535 | Sleep apnea | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000739 | Anxiety | |
| HP:0000337 | Broad forehead | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002353 | EEG abnormality | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0008499 | High hypermetropia | |
| HP:0000347 | Micrognathia | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0002650 | Scoliosis | |
| HP:0011098 | Speech apraxia | |
| HP:0000325 | Triangular face | |
| Occasional (29-5%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000252 | Microcephaly | |
| HP:0010807 | Open bite | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0004322 | Short stature | |
| HP:0000154 | Wide mouth | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1713
- This record as JSON: /data/d/1713.json