ORPHA:199318
15q13.3 microdeletion syndrome
Synonyms: Del(15)(q13.3) · Monosomy 15q13.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood
- Status
- active
A rare chromosomal anomaly characterized by a high risk for the occurrence of a wide range of neurodevelopmental anomalies including global developmental delay (DD), intellectual disability (ID), and behavioral issues of varying severity. 15q13.3 microdeletion does not lead to a clinically specific phenotype.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 15q13.3 microdeletion syndrome | Del(15)(q13.3) · Monosomy 15q13.3 |
| fr | Syndrome de microdélétion 15q13.3 | Del(15)(q13.3) · Monosomie 15q13.3 |
| de | Mikrodeletionssyndrom 15q13.3 | Del(15)(q13.3) · Monosomie 15q13.3 |
| es | Síndrome de microdeleción 15q13.3 | Del(15)(q13.3) · Monosomía 15q13.3 |
| it | Sindrome da microdelezione 15q13.3 | Del(15)(q13.3) · Monosomia 15q13.3 |
| nl | 15q13.3-microdeletiesyndroom | Del(15)(q13.3) · Monosomie 15q13.3 |
| pt | Síndrome de microdeleção 15q13.3 | |
| pl | Zespół mikrodelecji 15q13.3 | Del(15)(q13.3) · Monosomia 15q13.3 |
| cs | Mikrodeleční syndrom 15q13.3 | Del(15)(q13.3) · Monozomie 15q13.3 |
| uk | Синдром мікроделеції 15q13.3 | Del(15)(q13.3) · Моносомія 15q13.3 |
| zh | 15q13.3微缺失综合症 | 15q13.3单体 |
| tr | 15q13.3 mikrodelesyon sendromu | Del (15) (q13.3) · Monozomi 15q13.3 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612001 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.F | NTBT | index | validated |
| MONDO | 0012774 | E | validated | |
| MeSH | C567439 | E | validated | |
| UMLS | C2677613 | E | validated | |
| GARD | 10296 | E | validated | |
| MedDRA | 10090652 | E | 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 (5):
- ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - 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:262119Partial deletion of the long arm of chromosome 15 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98033Rare neurologic disease with psychiatric involvement
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHRNA7 | Role in the phenotype of | Assessed | HGNC:1960 | ENSG00000175344 | 118511 | 15q13.3 | cholinergic receptor nicotinic alpha 7 subunit | 22775350[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Validated | 29691480[PMID]_ORPHANET |
| Cases/families | 264 cases | Worldwide | Case(s) | Validated | 25077648[PMID]_26963284[PMID] | |
| Prevalence at birth | 1-5 / 10 000 | 0.018 / 100 000 | United States | Value and class | Validated | 29691480[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 0.04 / 100 000 | Norway | Value and class | Validated | 32778765[PMID]_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.
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HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0001252 | Hypotonia | |
| HP:0000256 | Macrocephaly | |
| HP:0000400 | Macrotia | |
| HP:0000995 | Melanocytic nevus | |
| HP:0000252 | Microcephaly | |
| HP:0005274 | Prominent nasal tip | |
| HP:0000411 | Protruding ear | |
| HP:0100753 | Schizophrenia | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199318
- This record as JSON: /data/d/199318.json