ORPHA:314588
Distal triplication 15q syndrome
Synonyms: Distal tetrasomy 15q · Tetrasomy 15(q25-qter) · Tetrasomy 15q26 · Triplication 15q25-qter · Triplication 15q26
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under 15q overgrowth syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal triplication 15q syndrome | Distal tetrasomy 15q · Tetrasomy 15(q25-qter) · Tetrasomy 15q26 · Triplication 15q25-qter · Triplication 15q26 |
| fr | Syndrome de triplication distale 15q | Triplication 15q25-qter · Triplication 15q26 · Tétrasomie 15(q25-qter) · Tétrasomie 15q26 · Tétrasomie distale 15q |
| de | Distale Triplikation 15q | Distal Tetrasomie 15q · Tetrasomie 15(q25-qter) · Tetrasomie 15q26 |
| es | Síndrome de triplicación terminal 15q | Tetrasomía 15(q25-qter) · Tetrasomía 15q26 · Tetrasomía terminal 15q · Triplicación 15q25-qter · Triplicación 15q26 |
| it | Triplicazione 15q distale | Tetrasomia 15(q25-qter) · Tetrasomia 15q distale · Tetrasomia 15q26 · Triplicazione 15q25-qter · Triplicazione 15q26 |
| nl | Distale triplicatie 15q-syndroom | Distale tetrasomie 15q · Tetrasomie 15(q25-qter) · Tetrasomie 15q26 · Triplicatie 15q25-qter · Triplicatie 15q26 |
| pt | Triplicação distal 15q | Tetrassomia 15(q25-qter) · Tetrassomia 15q26 · Tetrassomia distal 15q · Triplicação 15q25-qter · Triplicação 15q26 |
| pl | Zespół triplikacji dystalnej 15q | Tetrasomia 15(q25-qter) · Tetrasomia 15q26 · Triplikacja telomerowa 15q |
| cs | Distální tetrazomie 15q | Tetrazomie 15(q25-qter) · Tetrazomie 15q26 |
| uk | Дистальна триплікація 15q | Дистальна тетрасомія 15q · Тетрасомія 15(q25-qter) · Тетрасомія 15q26 · Тріплікація 15q25-qter · Триплікація 15q26 |
| zh | 15q远端四体 | 15q25-末端四体 |
| tr | Distal tetrazomi 15q | Tetrazomi 15q26 · Tetrazomi 15(q25-qter) |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614846 | E | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| MONDO | 0013918 | E | validated | |
| UMLS | C3553858 | 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:31458515q overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 24793337[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24793337[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.
6
HPO phenotypes
45 annotations · validated 2020-11-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001263 | Global developmental delay | |
| HP:0001507 | Growth abnormality | |
| HP:0000218 | High palate | |
| Frequent (79-30%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0003517 | Birth length greater than 97th percentile | |
| HP:0001363 | Craniosynostosis | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001520 | Large for gestational age | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000278 | Retrognathia | |
| HP:0001328 | Specific learning disability | |
| HP:0000506 | Telecanthus | |
| Occasional (29-5%) | ||
| HP:0000811 | Abnormal external genitalia | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0011039 | Abnormal helix morphology | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0001166 | Arachnodactyly | |
| HP:0001631 | Atrial septal defect | |
| HP:0012385 | Camptodactyly | |
| HP:0001131 | Corneal dystrophy | |
| HP:0000378 | Cupped ear | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0010946 | Dilatation of the renal pelvis | |
| HP:0001371 | Flexion contracture | |
| HP:0100790 | Hernia | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000034 | Hydrocele testis | |
| HP:0000238 | Hydrocephalus | |
| HP:0012304 | Hypoplastic aortic arch | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002808 | Kyphosis | |
| HP:0008551 | Microtia | |
| HP:0002667 | Nephroblastoma | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000486 | Strabismus | |
| HP:0003396 | Syringomyelia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 22653535[PMID]_19133692[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314588
- This record as JSON: /data/d/314588.json