ORPHA:94065
15q24 microdeletion syndrome
Synonyms: Del(15)(q24) · Monosomy 15q24
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Childhood
- Status
- active
15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 15q24 microdeletion syndrome | Del(15)(q24) · Monosomy 15q24 |
| fr | Syndrome de microdélétion 15q24 | Del(15)(q24) · Monosomie 15q24 |
| de | Mikrodeletionssyndrom 15q24 | Del(15)(q24) · Monosmie 15q24 |
| es | Síndrome de microdeleción 15q24 | Del(15)(q24) · Monosomía 15q24 |
| it | Sindrome da microdelezione 15q24 | Del(15)(q24) · Monosomia 15q24 |
| nl | 15q24-microdeletiesyndroom | Del(15)(q24) · Monosomie 15q24 |
| pt | Síndrome de microdeleção 15q24 | |
| pl | Zespół mikrodelecji 15q24 | Del(15)(q24) · Monosomia 15q24 |
| cs | Mikrodeleční syndrom 15q24 | Del(15)(q24) · Monozomie 15q24 |
| uk | Синдром мікроделеції 15q24 | Del(15)(q24) · Моносомія 15q24 |
| zh | 15q24微缺失综合征 | 15q25单体 |
| tr | 15q24 mikrodelesyon sendromu | Del (15) (q24) · Monozomi 15q24 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613406 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.F | NTBT | index | validated |
| MONDO | 0013256 | E | validated | |
| MeSH | C579849 | E | validated | |
| UMLS | C3697269 | E | validated | |
| GARD | 12219 | 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:262119Partial deletion of the long arm of chromosome 15 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:500163Witteveen-Kolk syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SIN3A | Role in the phenotype of | Assessed | HGNC:19353 | ENSG00000169375 | 607776 | 15q24.2 | SIN3 transcription regulator family member A | 27399968[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 22359776[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22359776[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.
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HPO phenotypes
52 annotations · validated 2020-03-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000708 | Atypical behavior | |
| HP:0001156 | Brachydactyly | |
| HP:0011229 | Broad eyebrow | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0009890 | High anterior hairline | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002719 | Recurrent infections | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0000319 | Smooth philtrum | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001780 | Abnormality of toe | |
| HP:0002023 | Anal atresia | |
| HP:0030084 | Clinodactyly | |
| HP:0000589 | Coloboma | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000324 | Facial asymmetry | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0000365 | Hearing impairment | |
| HP:0100790 | Hernia | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0011100 | Intestinal atresia | |
| HP:0002808 | Kyphosis | |
| HP:0000276 | Long face | |
| HP:0000252 | Microcephaly | |
| HP:0030260 | Microphallus | |
| HP:0000160 | Narrow mouth | |
| HP:0000639 | Nystagmus | |
| HP:0001513 | Obesity | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0002650 | Scoliosis | |
| HP:0200055 | Small hand | |
| HP:0000486 | Strabismus | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0012810 | Wide nasal base | |
| Very rare (<4-1%) | ||
| HP:0002475 | Myelomeningocele | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 17360722[PMID]_19557438[PMID]_26925314[PMID]_22216833[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94065
- This record as JSON: /data/d/94065.json