ORPHA:139474
17q11.2 microduplication syndrome
Synonyms: Dup(17)(q11.2) · Grisart-Destrée syndrome · Trisomy 17q11.2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 17q11.2 microduplication syndrome | Dup(17)(q11.2) · Grisart-Destrée syndrome · Trisomy 17q11.2 |
| fr | Syndrome de microduplication 17q11.2 | Dup(17)(q11.2) · Syndrome de Grisart-Destrée · Trisomie 17q11.2 |
| de | Mikroduplikationssyndrom 17q11.2 | Dup(17)(q11.2) · Grisart-Destrée-Syndrom · Trisomie 17q11.2 |
| es | Síndrome de microduplicación 17q11.2 | Dup(17)(q11.2) · Síndrome Grisart-Destrée · Trisomía 17q11.2 |
| it | Sindrome da microduplicazione 17q11.2 | Dup(17)(q11.2) · Sindrome di Grisart-Destrée · Trisomia 17q11.2 |
| nl | 17q11.2-microduplicatiesyndroom | Dup(17)(q11.2) · Syndroom van Grisart-Destrée · Trisomie 17q11.2 |
| pt | Síndrome de microduplicação 17q11.2 | |
| pl | Zespół mikroduplikacji17q11.2 | Dup(17)(q11.2) · Trisomia 17q11.2 · Zespół Grisarta i Destrée |
| cs | Mikroduplikační syndrom 17q11.2 | Dup(17)(q11.2) · Trizomie 17q11.2 · Grisartův-Destréeové syndrom · Grisart-Destréeové syndrom |
| uk | Синдром мікродуплікації 17q11.2 | Dup(17)(q11.2) · Синдром Грісарта-Дестре · Трисомія 17q11.2 |
| zh | 17q11.2微重复综合征 | Grisart-Destrée综合征 |
| tr | 17q11.2 mikroduplikasyon sendromu | Dup (17) (q11.2) · Trizomi 17q11.2 · Grisart-Destrée sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618874 | NTBT | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.G0 | NTBT | index | validated |
| MONDO | 0015350 | E | validated | |
| UMLS | C3495679 | 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 (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:262968Partial duplication of the long arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NF1 | Role in the phenotype of | Assessed | HGNC:7765 | ENSG00000196712 | 613113 | 17q11.2 | neurofibromin 1 | 22241097[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 18183042[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18183042[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0011803 | Bifid nose | |
| HP:0000750 | Delayed speech and language development | |
| HP:0004411 | Deviated nasal septum | |
| HP:0000053 | Macroorchidism | |
| HP:0000272 | Malar flattening | |
| HP:0001250 | Seizure | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0009928 | Thick nasal alae | |
| HP:0000233 | Thin vermilion border | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139474
- This record as JSON: /data/d/139474.json