Distal 17p13.3 microdeletion syndrome
Synonyms: Distal del(17)(p13.3 ) · Distal monosomy 17p13.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal 17p13.3 microdeletion syndrome | Distal del(17)(p13.3 ) · Distal monosomy 17p13.3 |
| fr | Syndrome de microdélétion 17p13.3 distale | Del(17)(p13.3) distale · Monosomie 17p13.3 distale |
| de | Mikrodeletionssyndrom 17p13.3, distal | Del(17)(p13.3) · Monosomie 17p13.3, distal |
| es | Síndrome de microdeleción terminal 17p13.3 | Del(17)(p13.3) terminal · Monosomía terminal 17p13.3 |
| it | Sindrome da microdelezione 17p13.3 distale | Del(17)(p13.3) distale · Monosomia 17p13.3 distale |
| nl | Distale 17p13.3-microdeletiesyndroom | Distale del(17)(p13.3) · Distale monosomie 17p13.3 |
| pt | Síndrome de microdeleção distal 17p13.3 | Monossomia distal 17p13.3 |
| pl | Zespół mikrodelecji dystalnej 17p13.3 | Dystalna del(17)(p13.3) · Monosomia dystalna 17p13.3 |
| cs | Syndrom distální mikrodelece 17p13.3 | Distální del(17)(p13.3) · Distální monozomie 17p13.3 |
| uk | Синдром дистальної мікроделеції 17р13.3 | Дистальний del(17)(p13.3 ) · Дистальна моносомія 17p13.3 |
| zh | 17p13.3远端微缺失综合征 | 17p13.3远端单体 |
| tr | Distal 17p13.3 mikrodelesyon sendromu | Distal del (17) (p13.3) · Distal monozomi 17p13.3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.H1 | NTBT | index | validated |
| MONDO | 0016839 | E | validated | |
| UMLS | C4707092 | 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:261965Partial deletion of the short arm of chromosome 17 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 |
|---|---|---|---|---|---|---|---|---|
| YWHAE | Role in the phenotype of | Assessed | HGNC:12851 | ENSG00000108953 | 605066 | 17p13.3 | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | 20599530[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 20599530[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20599530[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261257
- This record as JSON: /data/d/261257.json