Congenital hypothyroidism due to maternal intake of antithyroid drugs

Summary

Congenital hypothyroidism due to maternal intake of antithyroid drugs (MONDO:0016413) is a disease. A subtype of transient congenital hypothyroidism due to maternal factor — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 26

Clinical features

Signs & symptoms

Clinical features (HPO)

26 HPO clinical features (Orphanet curated; top 26 by frequency):

HPO ID	Term	Frequency
HP:0000851	Congenital hypothyroidism	Very frequent (80-99%)
HP:0000853	Goiter	Very frequent (80-99%)
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	Very frequent (80-99%)
HP:0003270	Abdominal distention	Very frequent (80-99%)
HP:0031507	Decreased circulating thyroxine level	Very frequent (80-99%)
HP:0000158	Macroglossia	Frequent (30-79%)
HP:0001070	Mottled pigmentation	Frequent (30-79%)
HP:0001265	Hyporeflexia	Frequent (30-79%)
HP:0001319	Neonatal hypotonia	Frequent (30-79%)
HP:0001520	Large for gestational age	Frequent (30-79%)
HP:0001537	Umbilical hernia	Frequent (30-79%)
HP:0001538	Protuberant abdomen	Frequent (30-79%)
HP:0002019	Constipation	Frequent (30-79%)
HP:0002045	Hypothermia	Frequent (30-79%)
HP:0002663	Delayed epiphyseal ossification	Frequent (30-79%)
HP:0005280	Depressed nasal bridge	Frequent (30-79%)
HP:0005930	Abnormality of epiphysis morphology	Frequent (30-79%)
HP:0006579	Prolonged neonatal jaundice	Frequent (30-79%)
HP:0008820	Absent ossification of capital femoral epiphysis	Frequent (30-79%)
HP:0008872	Feeding difficulties in infancy	Frequent (30-79%)
HP:0100786	Hypersomnia	Frequent (30-79%)
HP:0500011	Moon facies	Frequent (30-79%)
HP:0000958	Dry skin	Occasional (5-29%)
HP:0001662	Bradycardia	Occasional (5-29%)
HP:0002098	Respiratory distress	Occasional (5-29%)
HP:0004491	Large posterior fontanelle	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital hypothyroidism due to maternal intake of antithyroid drugs
Mondo ID	MONDO:0016413
Orphanet	226313
UMLS	C5190849
MedGen	1673658
GARD	0020563
Is cancer (heuristic)	no

Disease family

This is a subtype of transient congenital hypothyroidism due to maternal factor. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › endocrine system disorder › thyroid gland disorder › hypothyroidism › congenital hypothyroidism › transient congenital hypothyroidism › transient congenital hypothyroidism due to maternal factor › congenital hypothyroidism due to maternal intake of antithyroid drugs

Related subtypes (2): fetal iodine syndrome, congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies

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.