ORPHA:363958
17q21.31 microdeletion syndrome
Synonyms: Del(17)(q21.31) · Monosomy 17q21.31
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Koolen-De Vries syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 17q21.31 microdeletion syndrome | Del(17)(q21.31) · Monosomy 17q21.31 |
| fr | Syndrome de microdélétion 17q21.31 | Del(17)(q21.31) · Monosomie 17q21.31 |
| de | Mikrodeletionssyndrom 17q21.31 | Del(17)(q21.31) · Monosomie 17q21.31 |
| es | Síndrome de microdeleción 17q21.31 | Del(17)(q21.31) · Monosomía 17q21.31 |
| it | Sindrome da microdelezione 17q21.31 | Del(17)(q21.31) · Monosomia 17q21.31 |
| nl | 17q21.31-microdeletiesyndroom | Del(17)(q21.31) · Monosomie 17q21.31 |
| pt | Síndrome de microdeleção 17q21.31 | |
| pl | Zespół mikrodelecji 17q21.31 | Del(17)(q21.31) · Monosomia 17q21.31 |
| cs | Mikrodeleční syndrom 17q21.31 | Del(17)(q21.31) · Monozomie 17q21.31 |
| uk | Синдром мікроделеції 17q21.31 | Del(17)(q21.31) · Моносомія 17q21.31 |
| zh | 17q21.31微缺失综合征 | 17q21.31单体 |
| tr | 17q21.31 mikrodelesyon sendromu | Del(17)(q21.31) · Monozomi 17q21.31 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610443 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.H0 | NTBT | index | validated |
| MONDO | 0018216 | E | validated | |
| MeSH | C566476 | E | validated | |
| UMLS | C1864871 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:96169Koolen-De Vries syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare bone diseases - ORPHA:262137Partial deletion of the long arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KANSL1 | Role in the phenotype of | Assessed | HGNC:24565 | ENSG00000120071 | 612452 | 17q21.31 | KAT8 regulatory NSL complex subunit 1 | 19447831[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.82 / 100 000 | Europe | Value and class | Validated | 26306646[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363958
- This record as JSON: /data/d/363958.json