Myxedema

Summary

Myxedema (MONDO:0009718) is a disease with 1 GWAS associations across 8 studies. A subtype of hypothyroidism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	myxedema
Mondo ID	MONDO:0009718
EFO	EFO:1001055
MeSH	D009230
OMIM	255900
DOID	DOID:11634
NCIT	C34834
SNOMED CT	43153006
UMLS	C0027145
MedGen	6506
MedDRA	10028663
Is cancer (heuristic)	no

Also known as: myxedema

Data availability: 1 GWAS association (8 studies).

Disease family

This is a subtype of 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 › myxedema

Related subtypes (5): postsurgical hypothyroidism, iodine hypothyroidism, congenital hypothyroidism, myxedema coma, myxedema heart disease

Genetics & variants

GWAS landscape

1 GWAS associations across 8 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr14:81143695	5e-14		A	3.8

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90077730	Backman JD	2021	22,064	309,690	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081716	Backman JD	2021	22,064	309,690	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90691611	Karczewski KJ	2025	20,563	399,910	Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.
GCST90692145	Karczewski KJ	2025	543	8,306	Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.
GCST90692023	Karczewski KJ	2025	135	6,489	Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.
GCST90692687	Karczewski KJ	2025	135	6,489	Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.
GCST90013893	Mbatchou J	2021	0	0	Computationally efficient whole-genome regression for quantitative and binary traits.
GCST90013943	Mbatchou J	2021	0	0	Computationally efficient whole-genome regression for quantitative and binary traits.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
unknown	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr14:81143695							5e-14	Tier 4: intronic/intergenic

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.