Congenital nongoitrous hypothyroidism 3

Summary

Congenital nongoitrous hypothyroidism 3 (MONDO:0012360) is a disease. A subtype of hypothyroidism, congenital, nongoitrous — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• ClinVar variants: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital nongoitrous hypothyroidism 3
Mondo ID	MONDO:0012360
MeSH	C567935
OMIM	609893
DOID	DOID:0070127
UMLS	C2940785
MedGen	424853
GARD	0024862
Is cancer (heuristic)	no

Also known as: CHNG3 · hypothyroidism, congenital, nongoitrous, 3

Data availability: 3 ClinVar variants.

Disease family

This is a subtype of hypothyroidism, congenital, nongoitrous. 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hypothyroidism, congenital, nongoitrous › congenital nongoitrous hypothyroidism 3

Related subtypes (8): hypothyroidism, congenital, nongoitrous, 5, isolated thyroid-stimulating hormone deficiency, hypothyroidism due to TSH receptor mutations, congenital nongoitrous hypothyroidism 6, hypothyroidism, congenital, nongoitrous, 2, hypothyroidism, congenital, nongoitrous, 8, hypothyroidism, congenital, nongoitrous, 9, hypothyroidism, congenital, nongoitrous, 7

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

ClinVar germline variants

3 retrieved; paginated sample, class counts are floors:

3 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4685478	STRTS, 4-BP DEL, TTTG (rs965243764)	STRTS	Pathogenic	no assertion criteria provided
4685479	STRTS, T-C	STRTS	Pathogenic	no assertion criteria provided
4685480	STRTS, T-G	STRTS	Pathogenic	no assertion criteria provided

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.