15q11.2 microdeletion syndrome
Synonyms: 15q11.2 BP1-BP2 microdeletion syndrome · Del(15)(q11.2) · Monosomy 15q11.2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 15q11.2 microdeletion syndrome | 15q11.2 BP1-BP2 microdeletion syndrome · Del(15)(q11.2) · Monosomy 15q11.2 |
| fr | Syndrome de microdélétion 15q11.2 | Del(15)(q11.2) · Monosomie 15q11.2 · Syndrome de microdélétion 15q11.2 BP1-BP2 |
| de | Mikrodeletionssyndrom 15q11.2 | Monosomie 15q11.2 · 15q11.2 (BP1-BP2)-Mikrodeletionssyndrom · Del(15)(q11.2) |
| es | Síndrome de microdeleción 15q11.2 | Del(15)(q11.2) · Monosomía 15q11.2 · Síndrome de microdeleción 15q11.2 BP1-BP2 |
| it | Sindrome da microdelezione 15q11.2 | Del(15)(q11.2) · Monosomia 15q11.2 |
| nl | 15q11.2-microdeletiesyndroom | 15q11.2 BP1-BP2-microdeletiesyndroom · Del(15)(q11.2) · Monosomie 15q11.2 |
| pt | Síndrome de microdeleção 15q11.2 | |
| pl | Zespół mikrodelecji 15q11.2 | Del(15)(q11.2) · Monosomia 15q11.2 |
| cs | Syndrom mikrodelece 15q11.2 | Del(15)(q11.2) · Monozomie 15q11.2 |
| uk | Синдром мікроделеції 15q11.2 | 15q11.2 Синдром мікроделеції BP1-BP2 · Del(15)(q11.2) · Моносомія 15q11.2 |
| zh | 染色体15q11.2微缺失综合征 | 15q11.2BP1-BP2微缺失综合征 |
| tr | 15q11.2 mikrodelesyon sendromu | Del (15) (q11.2) · Monozomi 15q11.2 · 15q11.2 BP1-BP2 mikrodelesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615656 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.F | NTBT | index | validated |
| MONDO | 0014294 | E | validated | |
| UMLS | C4749854 | E | validated | |
| GARD | 10525 | 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:262119Partial deletion of the long arm of chromosome 15 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NIPA1 | Role in the phenotype of | Assessed | HGNC:17043 | ENSG00000170113 | 608145 | 15q11.2 | NIPA magnesium transporter 1 | 25689425[PMID] |
| NIPA2 | Role in the phenotype of | Assessed | HGNC:17044 | ENSG00000140157 | 608146 | 15q11.2 | NIPA magnesium transporter 2 | 25689425[PMID] |
| TUBG1 | Role in the phenotype of | Assessed | HGNC:12417 | ENSG00000131462 | 191135 | 17q21.31 | tubulin gamma 1 | 25689425[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | 25689425[PMID] | |
| 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.
HPO phenotypes
31 annotations · validated 2021-03-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000750 | Delayed speech and language development | |
| HP:0010522 | Dyslexia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0002354 | Memory impairment | |
| HP:0001270 | Motor delay | |
| HP:0006891 | Thick cerebral cortex | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001251 | Ataxia | |
| HP:0000717 | Autism | |
| HP:0000729 | Autistic behavior | |
| HP:0000337 | Broad forehead | |
| HP:0000252 | Microcephaly | |
| HP:0002370 | Poor coordination | |
| HP:0002172 | Postural instability | |
| HP:0100753 | Schizophrenia | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000736 | Short attention span | |
| Very rare (<4-1%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0001680 | Coarctation of aorta | |
| HP:0002198 | Dilated fourth ventricle | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0005160 | Total anomalous pulmonary venous return | |
| HP:0001629 | Ventricular septal defect | |
Annotation source: 28387067[PMID]_32384786[PMID]_25689425[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261183
- This record as JSON: /data/d/261183.json