Idiopathic congenital hypothyroidism

Summary

Idiopathic congenital hypothyroidism (MONDO:0019858) is a disease. A subtype of congenital hypothyroidism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 24

Clinical features

Signs & symptoms

Clinical features (HPO)

24 HPO clinical features (Orphanet curated; top 24 by frequency):

HPO ID	Term	Frequency
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	Very frequent (80-99%)
HP:0031507	Decreased circulating thyroxine level	Very frequent (80-99%)
HP:0000270	Delayed cranial suture closure	Frequent (30-79%)
HP:0001537	Umbilical hernia	Frequent (30-79%)
HP:0002019	Constipation	Frequent (30-79%)
HP:0004491	Large posterior fontanelle	Frequent (30-79%)
HP:0005930	Abnormality of epiphysis morphology	Frequent (30-79%)
HP:0006579	Prolonged neonatal jaundice	Frequent (30-79%)
HP:0008828	Delayed proximal femoral epiphyseal ossification	Frequent (30-79%)
HP:0008872	Feeding difficulties in infancy	Frequent (30-79%)
HP:0012758	Neurodevelopmental delay	Frequent (30-79%)
HP:0000158	Macroglossia	Occasional (5-29%)
HP:0000282	Facial edema	Occasional (5-29%)
HP:0001252	Hypotonia	Occasional (5-29%)
HP:0001254	Lethargy	Occasional (5-29%)
HP:0001265	Hyporeflexia	Occasional (5-29%)
HP:0001662	Bradycardia	Occasional (5-29%)
HP:0002045	Hypothermia	Occasional (5-29%)
HP:0003265	Neonatal hyperbilirubinemia	Occasional (5-29%)
HP:0005280	Depressed nasal bridge	Occasional (5-29%)
HP:0011437	Maternal autoimmune disease	Excluded (0%)
HP:0030057	Autoimmune antibody positivity	Excluded (0%)
HP:0031219	Reduced radioactive iodine uptake	Excluded (0%)
HP:0031220	Increased radioactive iodine uptake	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	idiopathic congenital hypothyroidism
Mondo ID	MONDO:0019858
Orphanet	95717
SNOMED CT	717334008
UMLS	C4273913
MedGen	901252
GARD	0019298
Is cancer (heuristic)	no

Disease family

This is a subtype of congenital hypothyroidism. 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 › idiopathic congenital hypothyroidism

Related subtypes (7): hypothyroidism, congenital, nongoitrous, familial thyroid dyshormonogenesis, Pendred syndrome, transient congenital hypothyroidism, permanent congenital hypothyroidism, Kocher-debre-Semelaigne syndrome, hypothyroidism due to iodide transport defect

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.