Aminopterin/methotrexate embryofetopathy
disease diseaseOn this page
Also known as aminopterin embryopathy syndromeaminopterin fetopathy syndromeaminopterin syndromefetal aminopterin syndromefetal methotrexate syndromefoetal aminopterin syndromefoetal methotrexate syndrome
Summary
Aminopterin/methotrexate embryofetopathy (MONDO:0016004) is a disease. A subtype of toxic or drug-related embryofetopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 33
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 17 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
33 HPO clinical features (Orphanet curated; top 33 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000238 | Hydrocephalus | Very frequent (80-99%) |
| HP:0000286 | Epicanthus | Very frequent (80-99%) |
| HP:0000303 | Mandibular prognathia | Very frequent (80-99%) |
| HP:0000316 | Hypertelorism | Very frequent (80-99%) |
| HP:0000431 | Wide nasal bridge | Very frequent (80-99%) |
| HP:0000520 | Proptosis | Very frequent (80-99%) |
| HP:0002323 | Anencephaly | Very frequent (80-99%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (80-99%) |
| HP:0002983 | Micromelia | Very frequent (80-99%) |
| HP:0003027 | Mesomelia | Very frequent (80-99%) |
| HP:0004322 | Short stature | Very frequent (80-99%) |
| HP:0009891 | Underdeveloped supraorbital ridges | Very frequent (80-99%) |
| HP:0000175 | Cleft palate | Frequent (30-79%) |
| HP:0000252 | Microcephaly | Frequent (30-79%) |
| HP:0000347 | Micrognathia | Frequent (30-79%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (30-79%) |
| HP:0001883 | Talipes | Frequent (30-79%) |
| HP:0002084 | Encephalocele | Frequent (30-79%) |
| HP:0002435 | Meningocele | Frequent (30-79%) |
| HP:0100335 | Non-midline cleft of the upper lip | Frequent (30-79%) |
| HP:0000358 | Posteriorly rotated ears | Frequent (30-79%) |
| HP:0001231 | Abnormal fingernail morphology | Occasional (5-29%) |
| HP:0001360 | Holoprosencephaly | Occasional (5-29%) |
| HP:0001629 | Ventricular septal defect | Occasional (5-29%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (5-29%) |
| HP:0001696 | Situs inversus totalis | Occasional (5-29%) |
| HP:0001792 | Small nail | Occasional (5-29%) |
| HP:0004935 | Pulmonary artery atresia | Occasional (5-29%) |
| HP:0006101 | Finger syndactyly | Occasional (5-29%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Occasional (5-29%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (5-29%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Occasional (5-29%) |
| HP:0010301 | Spinal dysraphism | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | aminopterin/methotrexate embryofetopathy |
| Mondo ID | MONDO:0016004 |
| Orphanet | 1908 |
| NCIT | C98928 |
| SNOMED CT | 65986000 |
| UMLS | C0432367 |
| MedGen | 98491 |
| MedDRA | 10071183 |
| Is cancer (heuristic) | no |
Also known as: aminopterin embryopathy syndrome · aminopterin fetopathy syndrome · aminopterin syndrome · fetal aminopterin syndrome · fetal methotrexate syndrome · foetal aminopterin syndrome · foetal methotrexate syndrome
Disease family
Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › developmental defect during embryogenesis › toxic or drug-related embryofetopathy › aminopterin/methotrexate embryofetopathy
Related subtypes (21): fetal iodine syndrome, fetal valproate syndrome, indomethacin embryofetopathy, cocaine embryofetopathy, fetal hydantoin syndrome, fetal trimethadione syndrome, vitamin K-antagonist embryofetopathy, fetal alcohol syndrome, diethylstilbestrol syndrome, fetal methylmercury syndrome, fetal minoxidil syndrome, phenobarbital embryopathy, toluene embryopathy, methimazole embryofetopathy, isotretinoin syndrome, mycophenolate mofetil embryopathy, thalidomide embryopathy, fetal carbamazepine syndrome, acitretin/etretinate embryopathy, fetal phenothiazine syndrome, propylthiouracil embryofetopathy
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.