Blue nevus

Summary

Blue nevus (MONDO:0006680) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	blue nevus
Mondo ID	MONDO:0006680
EFO	EFO:1000841
MeSH	D018329
NCIT	C3803
SNOMED CT	254806009
UMLS	C0206736
MedGen	104930
MedDRA	10062788
Is cancer (heuristic)	no

Also known as: benign mesenchymal melanoma · blue neuronevus · blue nevus · blue Nevus of skin · blue Nevus of the skin · blue skin Nevus · Jadassohn-TiC(che nevus · Jadassohn-TiC(che syndrome · Jadassohn-Tièche nevus · Jadassohn-Tièche syndrome · Tièche-Jadassohn nevus

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › integumentary system benign neoplasm › benign neoplasm of skin › melanocytic nevus › blue nevus

Related subtypes (27): conjunctival nevus, halo nevus, intradermal nevus, pigmented spindle cell nevus, nevus, epidermal, neurocutaneous melanocytosis, neutrophil actin dysfunction, CHILD syndrome, Becker nevus syndrome, CLOVES syndrome, nevus comedonicus syndrome, segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, congenital panfollicular nevus, porokeratotic eccrine ostial and dermal duct nevus, hereditary mucosal leukokeratosis, linear verrucous nevus syndrome, nevus of Ota, nevus of Ito, phakomatosis pigmentokeratotica, PENS syndrome, Angora hair nevus, didymosis aplasticosebacea, scalp syndrome, Nevada syndrome, palpebral nevus, large congenital melanocytic nevus, benign melanocytic skin nevus

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

2 retrieved; paginated sample, class counts are floors:

1 pathogenic, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
267851	46;XX;ins(5;6)(p13;p24p25)dn		Pathogenic	criteria provided, single submitter
626359	NM_181486.4(TBX5):c.253C>A (p.Pro85Thr)	TBX5	Likely pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TBX5	Orphanet:101016	Romano-Ward syndrome
TBX5	Orphanet:392	Holt-Oram syndrome

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
TBX5	HGNC:11604	ENSG00000089225	Q99593	T-box transcription factor TBX5	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TBX5	T-box transcription factor TBX5	DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TBX5	Transcription factor	no		TF_T-box, p53-like_TF_DNA-bd_sf, TF_T-box_CS

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
buccal mucosa cell	1
cardiac muscle of right atrium	1
tendon of biceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TBX5	129	broad	marker	tendon of biceps brachii, cardiac muscle of right atrium, buccal mucosa cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TBX5	2,250

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TBX5	Q99593	4

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 9. 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
YAP1- and WWTR1 (TAZ)-stimulated gene expression	1	761.3×	0.007	TBX5
Physiological factors	1	671.8×	0.007	TBX5
Cardiogenesis	1	423.0×	0.007	TBX5
Cardiac conduction	1	108.8×	0.021	TBX5
Muscle contraction	1	77.2×	0.023	TBX5
RNA Polymerase II Transcription	1	22.5×	0.067	TBX5
Gene expression (Transcription)	1	17.8×	0.069	TBX5
Generic Transcription Pathway	1	15.1×	0.069	TBX5
Developmental Biology	1	14.5×	0.069	TBX5

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
cell migration involved in coronary vasculogenesis	1	16852.0×	8e-04	TBX5
positive regulation of cardiac conduction	1	16852.0×	8e-04	TBX5
cardiac left ventricle formation	1	8426.0×	8e-04	TBX5
atrioventricular node cell fate commitment	1	8426.0×	8e-04	TBX5
bundle of His cell to Purkinje myocyte communication by electrical coupling	1	8426.0×	8e-04	TBX5
positive regulation of cell communication by electrical coupling involved in cardiac conduction	1	8426.0×	8e-04	TBX5
atrioventricular bundle cell differentiation	1	5617.3×	8e-04	TBX5
positive regulation of secondary heart field cardioblast proliferation	1	5617.3×	8e-04	TBX5
bundle of His development	1	4213.0×	8e-04	TBX5
positive regulation of cardioblast differentiation	1	4213.0×	8e-04	TBX5
atrioventricular node cell development	1	4213.0×	8e-04	TBX5
positive regulation of gap junction assembly	1	2407.4×	0.001	TBX5
sinoatrial node development	1	2106.5×	0.001	TBX5
forelimb morphogenesis	1	2106.5×	0.001	TBX5
pericardium development	1	1872.4×	0.001	TBX5
negative regulation of cardiac muscle cell proliferation	1	1872.4×	0.001	TBX5
regulation of atrial cardiac muscle cell membrane depolarization	1	1872.4×	0.001	TBX5
endocardial cushion development	1	1404.3×	0.002	TBX5
atrial septum morphogenesis	1	1296.3×	0.002	TBX5
atrioventricular valve morphogenesis	1	1203.7×	0.002	TBX5
positive regulation of cardiac muscle cell proliferation	1	624.1×	0.003	TBX5
cardiac muscle cell proliferation	1	581.1×	0.003	TBX5
cell fate specification	1	526.6×	0.003	TBX5
ventricular septum development	1	495.6×	0.003	TBX5
embryonic forelimb morphogenesis	1	495.6×	0.003	TBX5
pattern specification process	1	468.1×	0.003	TBX5
negative regulation of epithelial to mesenchymal transition	1	411.0×	0.003	TBX5
embryonic limb morphogenesis	1	401.2×	0.003	TBX5
morphogenesis of an epithelium	1	343.9×	0.004	TBX5
lung development	1	198.3×	0.006	TBX5

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
TBX5	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
TBX5	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	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	TBX5

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)
TBX5	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.