Mycophenolate mofetil embryopathy
General Information (adopted from Orphanet):
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Synonyms, Signs:
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MMF embryopathy
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Number of Symptoms
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27
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OrphanetNr:
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268249
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OMIM Id:
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ICD-10:
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Q86.8
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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:
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Prevalence:
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25
cases
[Orphanet]
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Inheritance:
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Not applicable
[Orphanet]
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Age of onset:
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Neonatal
Infancy
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Toxic or drug-related embryofetopathy
-Rare developmental defect during embryogenesis
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1
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(HPO:0100542)
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Abnormal localization of kidney |
Occasional [Orphanet]
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64 / 7739
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2
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(HPO:0000625)
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Cleft eyelid |
Occasional [Orphanet]
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31 / 7739
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3
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(HPO:0000366)
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Abnormality of the nose |
Occasional [Orphanet]
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56 / 7739
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4
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(HPO:0000277)
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Abnormality of the mandible |
Frequent [Orphanet]
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394 / 7739
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5
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(HPO:0000202)
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Oral cleft |
Frequent [Orphanet]
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120 / 7739
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6
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(HPO:0000316)
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Hypertelorism |
Frequent [Orphanet]
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644 / 7739
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7
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(HPO:0002006)
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Facial cleft |
Occasional [Orphanet]
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25 / 7739
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8
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(HPO:0000612)
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Iris coloboma |
Frequent [Orphanet]
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116 / 7739
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9
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(HPO:0008056)
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Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
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142 / 7739
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10
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(HPO:0000572)
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Visual loss |
Frequent [Orphanet]
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272 / 7739
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11
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(HPO:0000479)
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Abnormality of the retina |
Frequent [Orphanet]
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74 / 7739
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12
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(HPO:0000372)
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Abnormality of the auditory canal |
Very frequent [Orphanet]
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49 / 7739
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13
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(HPO:0008772)
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Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
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67 / 7739
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14
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(HPO:0000365)
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Hearing impairment |
Frequent [Orphanet]
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539 / 7739
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15
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(HPO:0004279)
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Short palm |
Occasional [Orphanet]
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323 / 7739
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16
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(HPO:0003312)
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Abnormal form of the vertebral bodies |
Occasional [Orphanet]
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172 / 7739
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17
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(HPO:0001829)
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Foot polydactyly |
Occasional [Orphanet]
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41 / 7739
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18
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(HPO:0001789)
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Hydrops fetalis |
Occasional [Orphanet]
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63 / 7739
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19
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(HPO:0002575)
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Tracheoesophageal fistula |
Occasional [Orphanet]
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54 / 7739
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20
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(HPO:0000775)
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Abnormality of the diaphragm |
Occasional [Orphanet]
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62 / 7739
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21
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(HPO:0001800)
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Hypoplastic toenails |
Frequent [Orphanet]
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74 / 7739
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22
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(HPO:0012303)
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Abnormality of the aortic arch |
Occasional [Orphanet]
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57 / 7739
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23
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(HPO:0001629)
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Ventricular septal defect |
Occasional [Orphanet]
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316 / 7739
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24
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(HPO:0002779)
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Tracheomalacia |
Occasional [Orphanet]
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26 / 7739
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25
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(HPO:0000238)
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Hydrocephalus |
Occasional [Orphanet]
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278 / 7739
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26
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(HPO:0007370)
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Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
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180 / 7739
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27
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(HPO:0012758)
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Neurodevelopmental delay |
Occasional [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |