Amastia

Summary

Amastia (MONDO:0007238) is a disease. A subtype of isolated congenital breast hypoplasia/aplasia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	amastia
Mondo ID	MONDO:0007238
MeSH	C535565
NCIT	C118459
SNOMED CT	75474006
GARD	0024536
Is cancer (heuristic)	no

Also known as: absent breasts and nipples · amastia · athelia · BNAH1 · breasts and/or nipples, aplasia or hypoplasia of, 1 · complete absence of breasts

Disease family

Classification path: disease › human disease › disease by body system or component › breast disorder › isolated congenital breast hypoplasia/aplasia › amastia

Related subtypes (2): breasts and/or nipples, aplasia or hypoplasia of, 2, breasts and/or nipples, aplasia or hypoplasia of, 1

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.