Methimazole embryofetopathy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr: 1923
OMIM Id:
ICD-10: Q86.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 40 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: Sort by abundance 

1
(HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
2
(HPO:0001362) Calvarial skull defect Frequent [Orphanet] 22 / 7739
3
(HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
4
(HPO:0000820) Abnormality of the thyroid gland Frequent [Orphanet] 19 / 7739
5
(HPO:0000821) Hypothyroidism Very frequent [Orphanet] 141 / 7739
6
(HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
7
(HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
8
(HPO:0002575) Tracheoesophageal fistula Very frequent [Orphanet] 54 / 7739
9
(HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
10
(HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
11
(HPO:0012303) Abnormality of the aortic arch Frequent [Orphanet] 57 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: