MCID: MTH070
MIFTS: 17

Methimazole Antenatal Exposure

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Methimazole Antenatal Exposure

MalaCards integrated aliases for Methimazole Antenatal Exposure:

Name: Methimazole Antenatal Exposure 52
Methimazole/carbimazole Embryofetopathy 52 58
Methimazole/carbimazole Embryopathy 52 58
Methimazole Embryofetopathy 52 58
Fetal Methimazole Syndrome 52
Mmi/cmz Embryofetopathy 58
Mmi/cmz Embryopathy 58

Characteristics:

Orphanet epidemiological data:

58
methimazole embryofetopathy
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Teratologic disorders


External Ids:

ICD10 via Orphanet 33 Q86.8
Orphanet 58 ORPHA1923

Summaries for Methimazole Antenatal Exposure

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1923 Definition A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia. Visit the Orphanet disease page for more resources.

MalaCards based summary : Methimazole Antenatal Exposure, also known as methimazole/carbimazole embryofetopathy, is related to ventricular septal defect and heart septal defect. Affiliated tissues include heart and thyroid, and related phenotypes are hypothyroidism and intrauterine growth retardation

Related Diseases for Methimazole Antenatal Exposure

Diseases related to Methimazole Antenatal Exposure via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 10.4
2 heart septal defect 10.4

Symptoms & Phenotypes for Methimazole Antenatal Exposure

Human phenotypes related to Methimazole Antenatal Exposure:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
2 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
4 tracheoesophageal fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0002575
5 esophageal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002032
6 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
7 coarctation of aorta 58 31 frequent (33%) Frequent (79-30%) HP:0001680
8 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
9 choanal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000453
10 urogenital fistula 58 31 frequent (33%) Frequent (79-30%) HP:0100589
11 calvarial skull defect 31 frequent (33%) HP:0001362
12 abnormal aortic morphology 58 Frequent (79-30%)
13 skull defect 58 Frequent (79-30%)
14 abnormality of the thyroid gland 58 Frequent (79-30%)

Drugs & Therapeutics for Methimazole Antenatal Exposure

Search Clinical Trials , NIH Clinical Center for Methimazole Antenatal Exposure

Genetic Tests for Methimazole Antenatal Exposure

Anatomical Context for Methimazole Antenatal Exposure

MalaCards organs/tissues related to Methimazole Antenatal Exposure:

40
Heart, Thyroid

Publications for Methimazole Antenatal Exposure

Articles related to Methimazole Antenatal Exposure:

# Title Authors PMID Year
1
Antithyroid drugs and congenital heart defects: ventricular septal defect is part of the methimazole/carbimazole embryopathy. 61
25069457 2014

Variations for Methimazole Antenatal Exposure

Expression for Methimazole Antenatal Exposure

Search GEO for disease gene expression data for Methimazole Antenatal Exposure.

Pathways for Methimazole Antenatal Exposure

GO Terms for Methimazole Antenatal Exposure

Sources for Methimazole Antenatal Exposure

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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