Toluene embryopathy

Summary

Toluene embryopathy (MONDO:0016016) 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): 22

Clinical features

Signs & symptoms

Clinical features (HPO)

22 HPO clinical features (Orphanet curated; top 22 by frequency):

HPO ID	Term	Frequency
HP:0000252	Microcephaly	Very frequent (80-99%)
HP:0000347	Micrognathia	Very frequent (80-99%)
HP:0000369	Low-set ears	Very frequent (80-99%)
HP:0000411	Protruding ear	Very frequent (80-99%)
HP:0001182	Tapered finger	Very frequent (80-99%)
HP:0001252	Hypotonia	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001347	Hyperreflexia	Very frequent (80-99%)
HP:0002167	Abnormality of speech or vocalization	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0004422	Biparietal narrowing	Very frequent (80-99%)
HP:0000028	Cryptorchidism	Frequent (30-79%)
HP:0000126	Hydronephrosis	Frequent (30-79%)
HP:0000286	Epicanthus	Frequent (30-79%)
HP:0000319	Smooth philtrum	Frequent (30-79%)
HP:0003196	Short nose	Frequent (30-79%)
HP:0007477	Abnormal dermatoglyphics	Frequent (30-79%)
HP:0010669	Hypoplasia of the zygomatic bone	Frequent (30-79%)
HP:0012745	Short palpebral fissure	Frequent (30-79%)
HP:0100542	Abnormal localization of kidney	Frequent (30-79%)
HP:0000233	Thin vermilion border	Occasional (5-29%)
HP:0000486	Strabismus	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	toluene embryopathy
Mondo ID	MONDO:0016016
MeSH	C538114
Orphanet	1920
ICD-11	1446076607
UMLS	C2931737
MedGen	444131
GARD	0018751
Is cancer (heuristic)	no

Also known as: Hersh Podruch Weisskopk syndrome · microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency · toluene embryopathy

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 › toluene 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, phenobarbital 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.