Camurati-Engelmann disease type 2

Summary

Camurati-Engelmann disease type 2 (MONDO:0011690) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Camurati-Engelmann disease type 2
Mondo ID	MONDO:0011690
MeSH	C537978
OMIM	606631
DOID	DOID:0061230
UMLS	C2931683
MedGen	419470
Is cancer (heuristic)	no

Also known as: CAEND2 · Camurati Engelmann disease, type 2 · Camurati-Engelmann disease, type 2 · progressive diaphyseal dysplasia with striations of the bones

Data availability: 3 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › Camurati-Engelmann disease › Camurati-Engelmann disease type 2

Related subtypes (1): Camurati-Engelmann disease type 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

ClinVar germline variants

3 retrieved; paginated sample, class counts are floors:

3 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4086082	TGFB2, 9-BP DEL, NT112	TGFB2	Pathogenic	no assertion criteria provided
4086083	R36G	TGFB2	Pathogenic	no assertion criteria provided
4086084	R36S	TGFB2	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
TGFB2	Orphanet:60030	Loeys-Dietz syndrome
TGFB2	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection

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
TGFB2	HGNC:11768	ENSG00000092969	P61812	Transforming growth factor beta-2 proprotein	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TGFB2	Transforming growth factor beta-2 proprotein	Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · 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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TGFB2	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGFb2

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
calcaneal tendon	1
cartilage tissue	1
tendon	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TGFB2	206	ubiquitous	marker	calcaneal tendon, tendon, cartilage tissue

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TGFB2	43

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TGFB2	P61812	11

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 14. 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
TGFBR3 regulates TGF-beta signaling	1	1427.5×	0.009	TGFB2
Signaling by TGFBR3	1	368.4×	0.009	TGFB2
Elastic fibre formation	1	335.9×	0.009	TGFB2
TGF-beta receptor signaling activates SMADs	1	326.3×	0.009	TGFB2
Molecules associated with elastic fibres	1	308.6×	0.009	TGFB2
Signaling by TGF-beta Receptor Complex	1	200.3×	0.012	TGFB2
Response to elevated platelet cytosolic Ca2+	1	163.1×	0.012	TGFB2
ECM proteoglycans	1	150.3×	0.012	TGFB2
Signaling by TGFB family members	1	115.3×	0.013	TGFB2
Platelet activation, signaling and aggregation	1	105.7×	0.013	TGFB2
Platelet degranulation	1	87.8×	0.014	TGFB2
Extracellular matrix organization	1	63.1×	0.018	TGFB2
Hemostasis	1	36.0×	0.030	TGFB2
Signal Transduction	1	10.2×	0.098	TGFB2

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
regulation of timing of catagen	1	16852.0×	0.002	TGFB2
positive regulation of activation-induced cell death of T cells	1	16852.0×	0.002	TGFB2
regulation of apoptotic process involved in outflow tract morphogenesis	1	16852.0×	0.002	TGFB2
negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	1	16852.0×	0.002	TGFB2
cardioblast differentiation	1	8426.0×	0.002	TGFB2
uterine wall breakdown	1	8426.0×	0.002	TGFB2
substantia propria of cornea development	1	8426.0×	0.002	TGFB2
positive regulation of integrin biosynthetic process	1	5617.3×	0.002	TGFB2
positive regulation of timing of catagen	1	5617.3×	0.002	TGFB2
regulation of transforming growth factor beta2 production	1	4213.0×	0.002	TGFB2
ascending aorta morphogenesis	1	4213.0×	0.002	TGFB2
positive regulation of cardioblast differentiation	1	4213.0×	0.002	TGFB2
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	1	4213.0×	0.002	TGFB2
endocardial cushion fusion	1	3370.4×	0.002	TGFB2
atrial septum primum morphogenesis	1	3370.4×	0.002	TGFB2
pericyte cell differentiation	1	3370.4×	0.002	TGFB2
activation-induced cell death of T cells	1	2407.4×	0.002	TGFB2
salivary gland morphogenesis	1	2407.4×	0.002	TGFB2
positive regulation of heart contraction	1	2106.5×	0.002	TGFB2
negative regulation of cartilage development	1	2106.5×	0.002	TGFB2
heart valve morphogenesis	1	1872.4×	0.002	TGFB2
dopamine biosynthetic process	1	1872.4×	0.002	TGFB2
membranous septum morphogenesis	1	1685.2×	0.002	TGFB2
pharyngeal arch artery morphogenesis	1	1685.2×	0.002	TGFB2
signaling	1	1532.0×	0.002	TGFB2
somatic stem cell division	1	1532.0×	0.002	TGFB2
generation of neurons	1	1532.0×	0.002	TGFB2
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	1	1532.0×	0.002	TGFB2
cardiac right ventricle morphogenesis	1	1404.3×	0.002	TGFB2
glial cell migration	1	1404.3×	0.002	TGFB2

Therapeutics

Drug target analysis

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

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
TGFB2	1	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
GALUNISERTIB	2	TGFB2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
TGFB2	3	Binding:3

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

1 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.

Compound	Max phase	Cohort target (bioactivity)
GALUNISERTIB	2	TGFB2

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	1	TGFB2
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.