Phenobarbital embryopathy
disease diseaseOn this page
Also known as phenobarbital antenatal exposure
Summary
Phenobarbital embryopathy (MONDO:0016015) 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: Unknown (Worldwide)
- Phenotypes (HPO): 16
Clinical features
Signs & symptoms
Clinical features (HPO)
16 HPO clinical features (Orphanet curated; top 16 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000286 | Epicanthus | Frequent (30-79%) |
| HP:0000303 | Mandibular prognathia | Frequent (30-79%) |
| HP:0000316 | Hypertelorism | Frequent (30-79%) |
| HP:0000369 | Low-set ears | Frequent (30-79%) |
| HP:0001156 | Brachydactyly | Frequent (30-79%) |
| HP:0001249 | Intellectual disability | Frequent (30-79%) |
| HP:0001263 | Global developmental delay | Frequent (30-79%) |
| HP:0008386 | Aplasia/Hypoplasia of the nails | Frequent (30-79%) |
| HP:0012808 | Abnormal nasal base | Frequent (30-79%) |
| HP:0100333 | Unilateral cleft lip | Frequent (30-79%) |
| HP:0000047 | Hypospadias | Occasional (5-29%) |
| HP:0000252 | Microcephaly | Occasional (5-29%) |
| HP:0000272 | Malar flattening | Occasional (5-29%) |
| HP:0001633 | Abnormal mitral valve morphology | Occasional (5-29%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (5-29%) |
| HP:0006265 | Aplasia/Hypoplasia of fingers | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | phenobarbital embryopathy |
| Mondo ID | MONDO:0016015 |
| Orphanet | 1919 |
| ICD-11 | 1602901948 |
| SNOMED CT | 715431002 |
| UMLS | C4275281 |
| MedGen | 895102 |
| Is cancer (heuristic) | no |
Also known as: phenobarbital antenatal exposure
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 › phenobarbital embryopathy
Related subtypes (21): fetal iodine syndrome, fetal valproate syndrome, aminopterin/methotrexate embryofetopathy, 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, 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.