ORPHA:261349
2p15p16.1 microdeletion syndrome
Synonyms: Del(2)(p15p16.1) · Monosomy 2p15p16.1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2p15p16.1 microdeletion syndrome | Del(2)(p15p16.1) · Monosomy 2p15p16.1 |
| fr | Syndrome de microdélétion 2p15p16.1 | Del(2)(p15p16.1) · Monosomie 2p15p16.1 |
| de | Mikrodeletionssyndrom 2p15p16.1 | Del(2)(p15p16.1) · Monosomie 2p15-p16.1 |
| es | Síndrome de microdeleción 2p15p16.1 | Del(2)(p15p16.1) · Monosomía 2p15p16.1 |
| it | Sindrome da microdelezione 2p15p16.1 | Del(2)(p15p16.1) · Monosomia 2p15-p16.1 · Monosomia 2p15p16.1 · Sindrome da microdelezione 2p15-p16.1 |
| nl | 2p15p16.1-microdeletiesyndroom | Del(2)(p15p16.1) · Monosomie 2p15p16.1 |
| pt | Síndrome de microdeleção 2p15p16.1 | |
| pl | Zespół mikrodelecji 2p15p16.1 | Del(2)(p15p16.1) · Monosomia 2p15p16.1 · Monosomia 2p15-p16.1 · Zespół mikrodelecji 2p15-p16.1 |
| cs | Syndrom mikrodelece 2p15p16.1 | Del(2)(p15p16.1) · Monozomie 2p15-p16.1 · Monozomie 2p15p16.1 · 2p15-p16.1 mikrodeleční syndrom |
| uk | Синдром мікроделеції 2p15p16.1 | Del(2)(p15p16.1) · Моносомія 2p15p16.1 |
| zh | 2p15p16.1微缺失综合征 | 2p15p16.1单体 |
| tr | 2p15p16.1 mikrodelesyon sendromu | Del(2)(p15p16.1) · Monozomi 2p15p16.1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612513 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.21 | NTBT | index | validated |
| MONDO | 0012916 | E | validated | |
| UMLS | C4304538 | E | validated | |
| GARD | 13391 | 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 (1):
- ORPHA:261866Partial deletion of the short arm of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCL11A | Role in the phenotype of | Assessed | HGNC:13221 | ENSG00000119866 | 606557 | 2p16.1 | BCL11 transcription factor A | 25979662[PMID] |
| REL | Role in the phenotype of | Assessed | HGNC:9954 | ENSG00000162924 | 164910 | 2p16.1 | REL proto-oncogene, NF-kB subunit | 27699255[PMID] |
| XPO1 | Role in the phenotype of | Assessed | HGNC:12825 | ENSG00000082898 | 602559 | 2p15 | exportin 1 | 40819229[PMID]_27699255[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 24810580[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24810580[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
77 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0000160 | Narrow mouth | |
| HP:0000648 | Optic atrophy | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000508 | Ptosis | |
| HP:0000319 | Smooth philtrum | |
| HP:0000506 | Telecanthus | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000729 | Autistic behavior | |
| HP:0000248 | Brachycephaly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001508 | Failure to thrive | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001510 | Growth delay | |
| HP:0000126 | Hydronephrosis | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000527 | Long eyelashes | |
| HP:0000369 | Low-set ears | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001840 | Metatarsus adductus | |
| HP:0000341 | Narrow forehead | |
| HP:0005274 | Prominent nasal tip | |
| HP:0000411 | Protruding ear | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000278 | Retrognathia | |
| HP:0000340 | Sloping forehead | |
| HP:0000486 | Strabismus | |
| HP:0001182 | Tapered finger | |
| HP:0000505 | Visual impairment | |
| HP:0006610 | Wide intermamillary distance | |
| Occasional (29-5%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0008734 | Decreased testicular size | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0002353 | EEG abnormality | |
| HP:0100625 | Enlarged thorax | |
| HP:0010628 | Facial palsy | |
| HP:0011968 | Feeding difficulties | |
| HP:0002213 | Fine hair | |
| HP:0001288 | Gait disturbance | |
| HP:0000771 | Gynecomastia | |
| HP:0000365 | Hearing impairment | |
| HP:0000348 | High forehead | |
| HP:0001611 | Hypernasal speech | |
| HP:0000135 | Hypogonadism | |
| HP:0000023 | Inguinal hernia | |
| HP:0002808 | Kyphosis | |
| HP:0001601 | Laryngomalacia | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0002999 | Patellar dislocation | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0001561 | Polyhydramnios | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0001852 | Sandal gap | |
| HP:0002650 | Scoliosis | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002558 | Supernumerary nipple | |
| HP:0000098 | Tall stature | |
| HP:0001863 | Toe clinodactyly | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20799320[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261349
- This record as JSON: /data/d/261349.json