ORPHA:699850
2p25.3 microduplication syndrome
Synonyms: Dup(2)(p25.3) · Trisomy 2p25.3 syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2p25.3 microduplication syndrome | Dup(2)(p25.3) · Trisomy 2p25.3 syndrome |
| fr | Syndrome de microduplication 2p25.3 | Dup(2)(p25.3) · Syndrome de trisomie 2p25.3 |
| de | Mikroduplikationssyndrom 2p25.3 | Dup(2)(p25.3) |
| es | Síndrome de microduplicación 2p25.3 | Dup(2)(p25.3) · Síndrome de trisomía 2p25.3 |
| it | Sindrome da microduplicazione 2p25.3 | Dup(2)(p25.3) · Sindrome da trisomia 2p25.3 |
| nl | 2p25.3-microduplicatiesyndroom | Dup(2)(p25.3) · Trisomie 2p25.3-syndroom |
| pt | 2p25.3 microduplication syndrome | |
| pl | 2p25.3 microduplication syndrome | = en |
| cs | 2p25.3 microduplication syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:262698Partial duplication of the short arm of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYT1L | Role in the phenotype of | Assessed | HGNC:7623 | ENSG00000186487 | 613084 | 2p25.3 | myelin transcription factor 1 like | 37188826[PMID] |
| PXDN | Role in the phenotype of | Assessed | HGNC:14966 | ENSG00000130508 | 605158 | 2p25.3 | peroxidasin | 37188826[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 43 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/699850
- This record as JSON: /data/d/699850.json