5q35 microduplication syndrome
Synonyms: Dup(5)(q35) · Trisomy 5q35
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Childhood
- Status
- active
A rare partial duplication of the long arm of chromosome 5 characterized by low birth weight, developmental delay, intellectual disability, microcephaly, short stature, and behavioral problems. Variable digital, urogenital, cardiac and gastrointestinal anomalies can sometimes occur, as well as variable unremarkable facial dysmorphism. Other signs migh include vision/eye anomalies and delayed bone age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 5q35 microduplication syndrome | Dup(5)(q35) · Trisomy 5q35 |
| fr | Syndrome de microduplication 5q35 | Dup(5)(q35) · Trisomie 5q35 |
| de | Mikroduplikationssyndrom 5q35 | |
| es | Síndrome de microduplicación 5q35 | Dup(5)(q35) · Trisomía 5q35 |
| it | Sindrome da microduplicazione 5q35 | Dup(5)(q35) · Trisomia 5q35 |
| nl | 5q35-microduplicatiesyndroom | Dup(5)(q35) · Trisomie 5q35 |
| pt | Síndrome de microduplicação 5q35 | |
| pl | Zespół mikroduplikacji 5q35 | Dup(5)(q35) · Trisomia 5q35 |
| cs | 5q35 mikroduplikační syndrom | Dup(5)(q35) · Trizomie 5q35 |
| uk | Синдром мікродуплікації 5q35 | Dup(5)(q35) · Трисомія 5q35 |
| zh | 5q35微重复综合征 | 5q35三体 |
| tr | 5q35 mikroduplikasyon sendromu | Dup (5) (q35) · Trizomi 5q35 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.40 | NTBT | index | validated |
| MONDO | 0016461 | E | validated | |
| UMLS | C4304526 | 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 (1):
- ORPHA:262869Partial duplication of the long arm of chromosome 5 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 |
|---|---|---|---|---|---|---|---|---|
| NSD1 | Role in the phenotype of | Assessed | HGNC:14234 | ENSG00000165671 | 606681 | 5q35.3 | nuclear receptor binding SET domain protein 1 | 24819041[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 24819041[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24819041[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.
HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000545 | Myopia | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228415
- This record as JSON: /data/d/228415.json