ORPHA:717830
2p14p15 microdeletion syndrome
Synonyms: Del(2)(p14)(p15) · Deletion 2p14p15 · Monosomy 2p14p15
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2p14p15 microdeletion syndrome | Del(2)(p14)(p15) · Deletion 2p14p15 · Monosomy 2p14p15 |
| fr | Syndrome de microdélétion 2p14p15 | Del(2)(p14)(p15) · Délétion 2p14p15 · Monosomie 2p14p15 |
| de | Mikrodeletionssyndrom 2p14p15 | Del(2)(p14)(p15) · Deletion 2p14p15 · Monosomie 2p14p15 |
| es | Síndrome de microdeleción 2p14p15 | Monosomía 2p14p15 · Del(2)(p14)(p15) · Deleción 2p14p15 |
| it | Sindrome da microdelezione 2p14p15 | Del(2)(p14)(p15) · Delezione 2p14p15 · Monosomia 2p14p15 |
| nl | 2p14p15-microdeletiesyndroom | Monosomie 2p14p15 · Del(2)(p14)(p15) · Deletie 2p14p15 |
| pt | 2p14p15 microdeletion syndrome | |
| pl | 2p14p15 microdeletion syndrome | = en |
| cs | 2p14p15 microdeletion syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
E 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 (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:261866Partial deletion of the short arm of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTR2 | Role in the phenotype of | Assessed | HGNC:169 | ENSG00000138071 | 604221 | 2p14 | actin related protein 2 | 35134569[PMID] |
| RAB1A | Role in the phenotype of | Assessed | HGNC:9758 | ENSG00000138069 | 179508 | 2p14 | RAB1A, member RAS oncogene family | 35134569[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/717830
- This record as JSON: /data/d/717830.json