Carpal tunnel syndrome 2

Summary

Carpal tunnel syndrome 2 (MONDO:0030883) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 11

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	carpal tunnel syndrome 2
Mondo ID	MONDO:0030883
OMIM	619161
DOID	DOID:0070467
UMLS	C5436916
MedGen	1725962
GARD	0025650
Is cancer (heuristic)	no

Also known as: carpal tunnel syndrome 2 · CTS2

Data availability: 11 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › peripheral nervous system disorder › peripheral neuropathy › nerve compression syndrome › carpal tunnel syndrome › carpal tunnel syndrome 2

Related subtypes (1): carpal tunnel syndrome 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

11 retrieved; paginated sample, class counts are floors:

4 uncertain significance, 2 benign, 2 pathogenic, 2 pathogenic/likely pathogenic, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
40994	NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	COMP	Pathogenic	criteria provided, single submitter
9198	NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	COMP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
988351	NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)	COMP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
995411	NM_000095.3(COMP):c.197T>A (p.Val66Glu)	COMP	Pathogenic	no assertion criteria provided
449474	NM_000095.3(COMP):c.1195G>A (p.Asp399Asn)	COMP	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1184999	NM_000095.3(COMP):c.1A>G (p.Met1Val)	COMP	Uncertain significance	criteria provided, single submitter
3382971	NM_000095.3(COMP):c.1526A>C (p.Asp509Ala)	COMP	Uncertain significance	criteria provided, single submitter
3583546	NM_000095.3(COMP):c.1848G>C (p.Gln616His)	COMP	Uncertain significance	criteria provided, single submitter
3897906	NM_000095.3(COMP):c.2104G>A (p.Gly702Ser)	COMP	Uncertain significance	criteria provided, single submitter
197627	NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	COMP	Benign	criteria provided, multiple submitters, no conflicts
255119	NM_000095.3(COMP):c.1755G>A (p.Thr585=)	COMP	Benign	criteria provided, multiple submitters, no conflicts

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
COMP	Orphanet:750	Pseudoachondroplasia
COMP	Orphanet:93308	Multiple epiphyseal dysplasia type 1

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
COMP	HGNC:2227	ENSG00000105664	P49747	Cartilage oligomeric matrix protein	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
COMP	Cartilage oligomeric matrix protein	Plays a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin.

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)
COMP	Other/Unknown	no		EGF, EGF-like_Ca-bd_dom, Thrombospondin_3-like_rpt

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
tibia	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
COMP	195	broad	marker	tibia, cartilage tissue, calcaneal tendon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
COMP	2,205

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
COMP	P49747	1

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
ECM proteoglycans	1	150.3×	0.007	COMP
Integrin cell surface interactions	1	134.3×	0.007	COMP

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
negative regulation of hemostasis	1	16852.0×	0.002	COMP
tendon development	1	4213.0×	0.002	COMP
vascular associated smooth muscle contraction	1	3370.4×	0.002	COMP
cartilage homeostasis	1	3370.4×	0.002	COMP
musculoskeletal movement	1	2808.7×	0.002	COMP
growth plate cartilage development	1	2106.5×	0.002	COMP
positive regulation of chondrocyte proliferation	1	1872.4×	0.002	COMP
vascular associated smooth muscle cell development	1	1685.2×	0.002	COMP
chondrocyte proliferation	1	1053.2×	0.003	COMP
chondrocyte development	1	936.2×	0.003	COMP
regulation of bone mineralization	1	732.7×	0.004	COMP
artery morphogenesis	1	674.1×	0.004	COMP
skin development	1	443.5×	0.005	COMP
limb development	1	411.0×	0.005	COMP
platelet aggregation	1	337.0×	0.006	COMP
response to unfolded protein	1	300.9×	0.006	COMP
cellular senescence	1	295.6×	0.006	COMP
bone mineralization	1	271.8×	0.006	COMP
protein secretion	1	263.3×	0.006	COMP
collagen fibril organization	1	224.7×	0.006	COMP
BMP signaling pathway	1	200.6×	0.007	COMP
animal organ morphogenesis	1	191.5×	0.007	COMP
protein processing	1	170.2×	0.007	COMP
multicellular organism growth	1	137.0×	0.009	COMP
skeletal system development	1	125.8×	0.009	COMP
protein homooligomerization	1	122.1×	0.009	COMP
regulation of gene expression	1	83.4×	0.013	COMP
negative regulation of apoptotic process	1	34.8×	0.030	COMP
apoptotic process	1	28.7×	0.035	COMP

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
COMP	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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	COMP

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)
COMP	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.