ORPHA:217385
17p13.3 microduplication syndrome
Synonyms: 17p13.3 duplication syndrome · Dup(17)(p13.3) · Trisomy 17p13.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 17p13.3 microduplication syndrome | 17p13.3 duplication syndrome · Dup(17)(p13.3) · Trisomy 17p13.3 |
| fr | Syndrome de microduplication 17p13.3 | Dup(17)(p13.3) · Syndrome de duplication 17p13.3 · Trisomie 17p13.3 |
| de | Mikroduplikationssyndrom 17p13 | Dup(17)(p13.3) · Trisomie 17p13.3 |
| es | Síndrome de microduplicación 17p13.3 | Dup(17)(p13.3) · Síndrome de duplicación 17p13.3 · Trisomía 17p13.3 |
| it | Sindrome da microduplicazione 17p13.3 | Dup(17)(p13.3) · Sindrome da duplicazione 17p13.3 · Trisomia 17p13.3 |
| nl | 17p13.3-microduplicatiesyndroom | 17p13.3-duplicatiesyndroom · Dup(17)(p13.3) · Trisomie 17p13.3 |
| pt | Síndrome de microduplicação 17p13.3 | Trissomia 17p13.3 |
| pl | Zespół mikroduplikacji 17p13.3 | Dup(17)(p13.3) · Trisomia17p13.3 · Zespół duplikacji 17p13.3 |
| cs | Mikroduplikační syndrom 17p13.3 | Dup(17)(p13.3) · Trizomie 17p13.3 · Duplikační syndrom 17p13.3 |
| uk | Синдром мікродуплікації 17p13.3 | Синдром дуплікації 17p13.3 · Dup(17)(p13.3) · Трисомія 17p13.3 |
| zh | 17p13.3微重复综合征 | 17p13.3重复综合征 |
| tr | 17p13.3 mikroduplikasyon sendromu | Dup (17) (s13.3) · Trizomi 17p13.3 · 17p13.3 duplikasyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613215 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.G1 | NTBT | index | validated |
| MONDO | 0013182 | E | validated | |
| UMLS | C4304641 | 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:262803Partial duplication of the short arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAFAH1B1 | Role in the phenotype of | Assessed | HGNC:8574 | ENSG00000007168 | 601545 | 17p13.3 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 21195811[PMID] |
| YWHAE | Role in the phenotype of | Assessed | HGNC:12851 | ENSG00000108953 | 605066 | 17p13.3 | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | 21195811[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 23813913[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0000160 | Narrow mouth | |
| HP:0003196 | Short nose | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000369 | Low-set ears | |
| HP:0000470 | Short neck | |
| Occasional (29-5%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0000218 | High palate | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000023 | Inguinal hernia | |
| HP:0000098 | Tall stature | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 19520700[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217385
- This record as JSON: /data/d/217385.json