ORPHA:268249
Mycophenolate mofetil embryopathy
Synonyms: MMF embryopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mycophenolate mofetil embryopathy | MMF embryopathy |
| fr | Embryopathie au mycophénolate mofétil | Embryopathie au MMF |
| de | Mycophenolat-Mofetil-Embryopathie | MMF-Embryopathie · Mykophenolat-Mofetil-Embryopathie |
| es | Embriopatía por micofenolato mofetilo | Embriopatía MMF |
| it | Embriopatia da micofenolato mofetile | Embriopatia da MMF |
| nl | Mycofenolaatmofetil-embryopathie | MMF-embryopathie |
| pt | Embriopatia por micofenolato de mofetil | |
| pl | Embriopatia spowodowana mykofenolanem mofetilu | Embriopatia MMF |
| cs | Mykofenolátová embryopatie | MMF embryopatie |
| uk | Мікофенолатна мофетилова ембріопатія | MMF-ембріопатія |
| zh | 霉酚酸酯胚胎病 | MMF型胚胎病 |
| tr | Mikofenolat mofetil embriyopatisi | MMF embriyopatisi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q86.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.0Y | NTBT | index | validated |
| MONDO | 0017055 | E | validated | |
| UMLS | C4509879 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:251529Toxic or drug-related embryofetopathy
rare developmental anomalies during embryogenesis; rare disorders due to toxic effects; rare teratologic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009892 | Anotia | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0008551 | Microtia | |
| Frequent (79-30%) | ||
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000612 | Iris coloboma | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0000202 | Orofacial cleft | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0011803 | Bifid nose | |
| HP:0008437 | Bifid thoracic vertebrae | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000086 | Ectopic kidney | |
| HP:0000625 | Eyelid coloboma | |
| HP:0002006 | Facial cleft | |
| HP:0001829 | Foot polydactyly | |
| HP:0000238 | Hydrocephalus | |
| HP:0001789 | Hydrops fetalis | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0004279 | Short palm | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0002779 | Tracheomalacia | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 19491002[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268249
- This record as JSON: /data/d/268249.json