Panic disorder 1

Summary

Panic disorder 1 (MONDO:0008187) 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	panic disorder 1
Mondo ID	MONDO:0008187
OMIM	167870
UMLS	C1868649
MedGen	401493
Is cancer (heuristic)	no

Also known as: PAND1 · panic disorder 1 · panic disorder syndrome 1 · panic disorder, susceptibility to

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › mental disorder › anxiety disorder › panic disorder › familial panic disorder › panic disorder 1

Related subtypes (2): panic disorder 2, panic disorder 3

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:

2 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
3587849	NM_000754.4(COMT):c.437C>G (p.Ala146Gly)	COMT	Uncertain significance	criteria provided, single submitter
3893068	NM_000754.4(COMT):c.1-5T>A	COMT	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
COMT	Orphanet:567	22q11.2 deletion 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
COMT	HGNC:2228	ENSG00000093010	P21964	Catechol O-methyltransferase	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
COMT	Catechol O-methyltransferase	Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones.

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
Enzyme (other)	1	12.0×	0.083

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
COMT	Enzyme (other)	yes	2.1.1.6	SAM_O-MeTrfase, Catechol_O-MeTrfase_euk, SAM-dependent_MTases_sf

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
right adrenal gland	1
right adrenal gland cortex	1
stromal cell of endometrium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
COMT	296	ubiquitous	marker	right adrenal gland cortex, right adrenal gland, stromal cell of endometrium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
COMT	3,362

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
COMT	P21964	12

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. 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
Enzymatic degradation of Dopamine by monoamine oxidase	1	5710.0×	5e-04	COMT
Enzymatic degradation of dopamine by COMT	1	3806.7×	5e-04	COMT
Methylation	1	815.7×	0.002	COMT
Potential therapeutics for SARS	1	114.2×	0.009	COMT

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
norepinephrine secretion	1	16852.0×	0.001	COMT
response to dopamine	1	16852.0×	0.001	COMT
catecholamine catabolic process	1	8426.0×	0.001	COMT
dopamine secretion	1	5617.3×	0.001	COMT
renal filtration	1	5617.3×	0.001	COMT
renin secretion into blood stream	1	4213.0×	0.001	COMT
cellular response to phosphate starvation	1	4213.0×	0.001	COMT
renal sodium excretion	1	4213.0×	0.001	COMT
habituation	1	4213.0×	0.001	COMT
mastication	1	4213.0×	0.001	COMT
renal albumin absorption	1	3370.4×	0.001	COMT
cerebellar cortex morphogenesis	1	2808.7×	0.001	COMT
synaptic transmission, dopaminergic	1	2106.5×	0.001	COMT
response to salt	1	2106.5×	0.001	COMT
response to angiotensin	1	1872.4×	0.002	COMT
dopamine catabolic process	1	1685.2×	0.002	COMT
norepinephrine metabolic process	1	1532.0×	0.002	COMT
artery development	1	1404.3×	0.002	COMT
glomerulus development	1	1296.3×	0.002	COMT
cellular response to cocaine	1	1296.3×	0.002	COMT
startle response	1	1123.5×	0.002	COMT
response to corticosterone	1	1123.5×	0.002	COMT
dopamine metabolic process	1	991.3×	0.002	COMT
prostaglandin metabolic process	1	842.6×	0.002	COMT
detection of temperature stimulus involved in sensory perception of pain	1	842.6×	0.002	COMT
developmental process	1	674.1×	0.002	COMT
exploration behavior	1	648.1×	0.002	COMT
glycogen metabolic process	1	526.6×	0.003	COMT
cholesterol efflux	1	526.6×	0.003	COMT
response to amphetamine	1	495.6×	0.003	COMT

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · 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).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
COMT	OPICAPONE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
COMT	3	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
OPICAPONE	4	COMT
TOLCAPONE	4	COMT
ENTACAPONE	4	COMT

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
COMT	55	Binding:47, ADMET:8

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
COMT	2.1.1.6	catechol O-methyltransferase

Pharmacogenomics

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

Cohort genes with a CPIC/DPWG dosing guideline

Symbol	CPIC guidelines
COMT	1

Chemical tractability of cohort targets

3 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)
OPICAPONE	4	COMT
TOLCAPONE	4	COMT
ENTACAPONE	4	COMT

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	COMT
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	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.