Trisomy X
General Information (adopted from Orphanet):
| Synonyms, Signs: |
47,XXX XXX Triplo-X Triple X |
| Number of Symptoms | 18 |
| OrphanetNr: | 3375 |
| OMIM Id: |
|
| ICD-10: |
Q97.0 |
| UMLs: |
C0221033 |
| MeSH: |
D014314 |
| MedDRA: |
|
| Snomed: |
35111009 |
Prevalence, inheritance and age of onset:
| Prevalence: | 42.5 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-acquired premature ovarian failure
-Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease Polysomy of X chromosome -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000869) | Secondary amenorrhea | Occasional [Orphanet] | 42 / 7739 | |||
|
|
(HPO:0008678) | Renal hypoplasia/aplasia | Occasional [Orphanet] | 127 / 7739 | |||
|
|
(HPO:0000107) | Renal cyst | Occasional [Orphanet] | 126 / 7739 | |||
|
|
(HPO:0000582) | Upslanted palpebral fissure | Occasional [Orphanet] | 185 / 7739 | |||
|
|
(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
|
|
(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
|
|
(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0100851) | Abnormal emotion/affect behavior | Occasional [Orphanet] | 85 / 7739 | |||
|
|
(HPO:0000752) | Hyperactivity | Occasional [Orphanet] | 140 / 7739 | |||
|
|
(HPO:0001337) | Tremor | Occasional [Orphanet] | 200 / 7739 | |||
|
|
(HPO:0001382) | Joint hypermobility | Occasional [Orphanet] | 231 / 7739 | |||
|
|
(HPO:0001385) | Hip dysplasia | Occasional [Orphanet] | 242 / 7739 | |||
|
|
(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
|
|
(HPO:0000767) | Pectus excavatum | Occasional [Orphanet] | 244 / 7739 | |||
|
|
(HPO:0000098) | Tall stature | Frequent [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
|
|
(HPO:0001428) | Somatic mutation | Very frequent [Orphanet] | 100 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|