Aminopterin/methotrexate embryofetopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Fetal aminopterin syndrome Aminopterin embryopathy syndrome |
| Number of Symptoms | 33 |
| OrphanetNr: | 1908 |
| 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: | 17 cases [Orphanet] |
| 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:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000303) | Mandibular prognathia | Very frequent [Orphanet] | 179 / 7739 | |||
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(HPO:0000520) | Proptosis | Very frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0009891) | Underdeveloped supraorbital ridges | Very frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0002084) | Encephalocele | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | Frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0003027) | Mesomelia | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0002435) | Meningocele | Frequent [Orphanet] | 23 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Occasional [Orphanet] | 198 / 7739 | |||
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(HPO:0002983) | Micromelia | Very frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Occasional [Orphanet] | 80 / 7739 | |||
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(HPO:0010301) | Spinal dysraphism | Occasional [Orphanet] | 14 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001805) | Thick nail | Occasional [Orphanet] | 96 / 7739 | |||
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(HPO:0001636) | Tetralogy of Fallot | Occasional [Orphanet] | 104 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Occasional [Orphanet] | 316 / 7739 | |||
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(HPO:0001651) | Dextrocardia | Occasional [Orphanet] | 38 / 7739 | |||
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(HPO:0001641) | Abnormality of the pulmonary valve | Occasional [Orphanet] | 27 / 7739 | |||
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(HPO:0012443) | Abnormality of brain morphology | Occasional [Orphanet] | 45 / 7739 | |||
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(HPO:0002323) | Anencephaly | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Very frequent [Orphanet] | 278 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Occasional [Orphanet] | 137 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 | |||
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(HPO:0011420) | Death | Frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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