Multiple fibroadenoma of the breast

Summary

Multiple fibroadenoma of the breast (MONDO:0014249) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	multiple fibroadenoma of the breast
Mondo ID	MONDO:0014249
OMIM	615554
Orphanet	50920
UMLS	C3809918
MedGen	816248
GARD	0024980
Is cancer (heuristic)	no

Also known as: mammary polyadenomatosis · MFAB · multiple fibroadenomas of the breast

Data availability: 4 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › thoracic benign neoplasm › breast benign neoplasm › multiple fibroadenoma of the breast

Related subtypes (14): breast lipoma, breast cyst, benign eccrine breast spiradenoma, breast fibroadenoma, breast leiomyoma, breast adenoma, breast myofibroblastoma, benign breast adenomyoepithelioma, breast hemangioma, benign breast phyllodes tumor, intraductal breast papilloma, benign neoplasm of male breast, diabetic mastopathy, lymphocytic mastitis

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

4 retrieved; paginated sample, class counts are floors:

3 uncertain significance, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
88996	NM_000949.7(PRLR):c.508A>C (p.Ile170Leu)	PRLR	Conflicting classifications of pathogenicity	no assertion criteria provided
3310228	NM_000949.7(PRLR):c.235A>G (p.Ile79Val)	PRLR	Uncertain significance	criteria provided, multiple submitters, no conflicts
3783429	NM_000949.7(PRLR):c.1469C>T (p.Thr490Met)	PRLR	Uncertain significance	criteria provided, multiple submitters, no conflicts
3892187	NM_000949.7(PRLR):c.119A>G (p.Asn40Ser)	PRLR	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PRLR	Orphanet:397685	Familial hyperprolactinemia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PRLR	HGNC:9446	ENSG00000113494	P16471	Prolactin receptor	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PRLR	Prolactin receptor	This is a receptor for the anterior pituitary hormone prolactin (PRL).

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Antibody/Immunoglobulin	1	29.2×	0.034

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PRLR	Antibody/Immunoglobulin	yes		Long_hematopoietin_rcpt_CS, FN3_dom, Ig-like_fold

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
choroid plexus epithelium	1
placenta	1
seminal vesicle	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PRLR	200	broad	marker	placenta, choroid plexus epithelium, seminal vesicle

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PRLR	985

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PRLR	P16471	12

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Prolactin receptor signaling	1	761.3×	0.002	PRLR
Growth hormone receptor signaling	1	475.8×	0.002	PRLR

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
activation of transmembrane receptor protein tyrosine kinase activity	1	5617.3×	0.002	PRLR
activation of Janus kinase activity	1	4213.0×	0.002	PRLR
prostate gland growth	1	2106.5×	0.002	PRLR
regulation of epithelial cell differentiation	1	1872.4×	0.002	PRLR
cellular response to granulocyte macrophage colony-stimulating factor stimulus	1	1296.3×	0.002	PRLR
mammary gland epithelial cell differentiation	1	1203.7×	0.002	PRLR
mammary gland alveolus development	1	991.3×	0.003	PRLR
steroid biosynthetic process	1	601.9×	0.004	PRLR
lactation	1	421.3×	0.005	PRLR
embryo implantation	1	351.1×	0.005	PRLR
positive regulation of B cell proliferation	1	343.9×	0.005	PRLR
regulation of cell adhesion	1	306.4×	0.005	PRLR
cell surface receptor signaling pathway via JAK-STAT	1	290.6×	0.005	PRLR
response to bacterium	1	193.7×	0.007	PRLR
positive regulation of cold-induced thermogenesis	1	163.6×	0.007	PRLR
cytokine-mediated signaling pathway	1	130.6×	0.009	PRLR
negative regulation of apoptotic process	1	34.8×	0.030	PRLR
positive regulation of cell population proliferation	1	33.6×	0.030	PRLR

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PRLR	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PRLR	1	Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	PRLR
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
PRLR	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.