Attention deficit-hyperactivity disorder 8

Summary

Attention deficit-hyperactivity disorder 8 (MONDO:0859261) 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	attention deficit-hyperactivity disorder 8
Mondo ID	MONDO:0859261
OMIM	619957
UMLS	C5677018
MedGen	1808030
Is cancer (heuristic)	no

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › mental disorder › developmental disorder of mental health › specific developmental disorder › attention deficit-hyperactivity disorder › attention deficit-hyperactivity disorder 8

Related subtypes (2): attention deficit hyperactivity disorder, inattentive type, hereditary attention deficit-hyperactivity disorder

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 uncertain significance, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1695977	NM_001792.5(CDH2):c.448C>T (p.His150Tyr)	CDH2	Likely pathogenic	criteria provided, single submitter
1397258	NM_001792.5(CDH2):c.893A>G (p.Asn298Ser)	CDH2	Uncertain significance	criteria provided, multiple submitters, no conflicts

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
CDH2	Orphanet:293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

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
CDH2	HGNC:1759	ENSG00000170558	P19022	Cadherin-2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CDH2	Cadherin-2	Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell.

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)
CDH2	Other/Unknown	no		Cadherin_Y-type_LIR, Cadherin-like_dom, Cadherin_pro_dom

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
heart right ventricle	1
stromal cell of endometrium	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CDH2	233	ubiquitous	marker	heart right ventricle, ventricular zone, stromal cell of endometrium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CDH2	5,623

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CDH2	P19022	79.68

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 13. 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
Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition	1	878.5×	0.012	CDH2
Myogenesis	1	380.7×	0.012	CDH2
Adherens junctions interactions	1	248.3×	0.012	CDH2
Cell-cell junction organization	1	248.3×	0.012	CDH2
Cell junction organization	1	187.2×	0.012	CDH2
MITF-M-dependent gene expression	1	181.3×	0.012	CDH2
Cell-Cell communication	1	137.6×	0.013	CDH2
MITF-M-regulated melanocyte development	1	114.2×	0.014	CDH2
Post-translational protein phosphorylation	1	100.2×	0.014	CDH2
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	1	86.5×	0.015	CDH2
Post-translational protein modification	1	19.2×	0.062	CDH2
Developmental Biology	1	14.5×	0.075	CDH2
Metabolism of proteins	1	12.4×	0.081	CDH2

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
mesenchymal cell migration	1	8426.0×	0.001	CDH2
positive regulation of synaptic vesicle clustering	1	8426.0×	0.001	CDH2
regulation of oligodendrocyte progenitor proliferation	1	5617.3×	0.001	CDH2
neuroligin clustering involved in postsynaptic membrane assembly	1	5617.3×	0.001	CDH2
regulation of postsynaptic density protein 95 clustering	1	4213.0×	0.001	CDH2
detection of muscle stretch	1	2407.4×	0.002	CDH2
radial glial cell differentiation	1	1532.0×	0.002	CDH2
neuroepithelial cell differentiation	1	1532.0×	0.002	CDH2
synaptic vesicle clustering	1	1404.3×	0.002	CDH2
type B pancreatic cell development	1	1296.3×	0.002	CDH2
striated muscle cell differentiation	1	991.3×	0.003	CDH2
glial cell differentiation	1	887.0×	0.003	CDH2
neural crest cell development	1	802.5×	0.003	CDH2
blood vessel morphogenesis	1	802.5×	0.003	CDH2
brain morphogenesis	1	732.7×	0.003	CDH2
homeostasis of number of cells	1	674.1×	0.003	CDH2
neuronal stem cell population maintenance	1	674.1×	0.003	CDH2
adherens junction organization	1	510.7×	0.003	CDH2
calcium-dependent cell-cell adhesion	1	481.5×	0.003	CDH2
cell-cell junction assembly	1	443.5×	0.003	CDH2
cell-cell adhesion mediated by cadherin	1	411.0×	0.004	CDH2
heterophilic cell-cell adhesion	1	337.0×	0.004	CDH2
synapse assembly	1	230.8×	0.006	CDH2
cerebral cortex development	1	205.5×	0.006	CDH2
cell morphogenesis	1	157.5×	0.008	CDH2
homophilic cell-cell adhesion	1	140.4×	0.008	CDH2
negative regulation of canonical Wnt signaling pathway	1	117.8×	0.010	CDH2
cell-cell adhesion	1	101.5×	0.011	CDH2
positive regulation of MAPK cascade	1	80.6×	0.013	CDH2
cell migration	1	61.5×	0.017	CDH2

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
CDH2	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
CDH2	4	Binding:3, Functional: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	CDH2

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)
CDH2	4	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.