5p13 microduplication syndrome
Synonyms: Dup(5)(p13) · Trisomy 5p13
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 5p13 microduplication syndrome | Dup(5)(p13) · Trisomy 5p13 |
| fr | Syndrome de microduplication 5p13 | Dup(5)(p13) · Trisomie 5p13 |
| de | Mikroduplikationssyndrom 5p13 | Dup(5)(p13) · Trisomie 5p13 |
| es | Síndrome de microduplicación 5p13 | Dup(5)(p13) · Trisomía 5p13 |
| it | Síndrome da microduplicazione 5p13 | Dup(5)(p13) · Trisomia 5p13 |
| nl | 5p13-microduplicatiesyndroom | Dup(5)(p13) · Trisomie 5p13 |
| pt | Sídrome de microduplicação 5p13 | |
| pl | Zespół mikroduplikacji 5p13 | Dup(5)(p13) · Trisomia 5p13 |
| cs | Mikroduplikační syndrom 5p13 | Dup(5)(p13) · Trizomie 5p13 |
| uk | Синдром мікродуплікації 5р13 | Dup(5)(p13) · Трисомія 5р13 |
| zh | 5p13微复制综合征 | 5p13三体 |
| tr | 5p13 mikroduplikasyon sendromu | Dup(5)(p13) · Trizomi 5p13 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613174 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0013169 | E | validated | |
| UMLS | C4749507 | 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:262725Partial duplication/triplication of the short 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 |
|---|---|---|---|---|---|---|---|---|
| NIPBL | Role in the phenotype of | Assessed | HGNC:28862 | ENSG00000164190 | 608667 | 5p13.2 | NIPBL cohesin loading factor | 23085304[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 20052029[PMID]_21211577[PMID]_23085304[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329802
- This record as JSON: /data/d/329802.json