Triploidy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 35 |
| OrphanetNr: | 3376 |
| OMIM Id: |
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| ICD-10: |
Q92.7 |
| UMLs: |
C0333693 |
| MeSH: |
D057885 |
| MedDRA: |
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| Snomed: |
14847005 66651005 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Chromosomal anomaly with cataract
-Rare eye disease -Rare genetic disease Polyploidy -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic obesity -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0000062) | Ambiguous genitalia | Occasional [Orphanet] | 74 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000154) | Wide mouth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Occasional [Orphanet] | 188 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | Frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0000239) | Large fontanelles | Very frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000158) | Macroglossia | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0000470) | Short neck | Occasional [Orphanet] | 345 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0004331) | Decreased skull ossification | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0000612) | Iris coloboma | Frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000774) | Narrow chest | Frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0002435) | Meningocele | Occasional [Orphanet] | 23 / 7739 | |||
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(HPO:0001561) | Polyhydramnios | Frequent [Orphanet] | 191 / 7739 | |||
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(HPO:0005264) | Abnormality of the gallbladder | Occasional [Orphanet] | 14 / 7739 | |||
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(HPO:0002566) | Intestinal malrotation | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0012090) | Abnormality of pancreas morphology | Occasional [Orphanet] | 31 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0001539) | Omphalocele | Frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0004760) | Congenital septal defect | Occasional [Orphanet] | 69 / 7739 | |||
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(HPO:0001428) | Somatic mutation | Very frequent [Orphanet] | 100 / 7739 | |||
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(HPO:0012443) | Abnormality of brain morphology | Occasional [Orphanet] | 45 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Occasional [Orphanet] | 278 / 7739 | |||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|