Indomethacin embryofetopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Fetal indomethacin syndrome |
| Number of Symptoms | 11 |
| OrphanetNr: | 1909 |
| OMIM Id: |
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| ICD-10: |
Q86.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Teratogenic Pierre Robin syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Toxic or drug-related embryofetopathy -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000107) | Renal cyst | Occasional [Orphanet] | 126 / 7739 | |||
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(HPO:0000112) | Nephropathy | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000124) | Renal tubular dysfunction | Occasional [Orphanet] | 46 / 7739 | |||
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(HPO:0000083) | Renal insufficiency | Very frequent [Orphanet] | 232 / 7739 | |||
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(HPO:0001789) | Hydrops fetalis | Occasional [Orphanet] | 63 / 7739 | |||
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(HPO:0001622) | Premature birth | Very frequent [Orphanet] | 100 / 7739 | |||
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(HPO:0001562) | Oligohydramnios | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0001638) | Cardiomyopathy | Occasional [Orphanet] | 192 / 7739 | |||
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(HPO:0001928) | Abnormality of coagulation | Occasional [Orphanet] | 44 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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