Perrault syndrome 7

Summary

Perrault syndrome 7 (MONDO:0976232) is a disease with 2 cohort genes.

At a glance

• Cohort genes: 2
• ClinVar variants: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Perrault syndrome 7
Mondo ID	MONDO:0976232
OMIM	621101
DOID	DOID:0061073
UMLS	C6012699
MedGen	1876467
GARD	0027436
Is cancer (heuristic)	no

Data availability: 3 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal recessive disease › Perrault syndrome › Perrault syndrome 7

Related subtypes (6): Perrault syndrome 1, Perrault syndrome 3, Perrault syndrome 2, Perrault syndrome 4, Perrault syndrome 5, Perrault syndrome 6

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:

2 pathogenic/likely pathogenic, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
2683851	NM_004632.4(DAP3):c.1174G>A (p.Glu392Lys)	DAP3	Pathogenic/Likely pathogenic	no assertion criteria provided
2683852	NM_004632.4(DAP3):c.1184G>A (p.Cys395Tyr)	DAP3	Pathogenic/Likely pathogenic	no assertion criteria provided
2683850	NM_004632.4(DAP3):c.395C>T (p.Thr132Ile)	DAP3	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
DAP3	HGNC:2673	ENSG00000132676	P51398	Small ribosomal subunit protein mS29	clinvar
DLGAP3	HGNC:30368	ENSG00000116544	O95886	Disks large-associated protein 3	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
DAP3	Small ribosomal subunit protein mS29	As a component of the mitochondrial small ribosomal subunit, it plays a role in the translation of mitochondrial mRNAs.
DLGAP3	Disks large-associated protein 3	May play a role in the molecular organization of synapses and neuronal cell signaling.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 2 · 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	2	1.8×	0.312

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
DAP3	Other/Unknown	no		Ribosomal_mS29_met, Ribosomal_mS29, P-loop_NTPase
DLGAP3	Other/Unknown	no		SAPAP

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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
adrenal tissue	1
body of pancreas	1
colonic epithelium	1
anterior cingulate cortex	1
nucleus accumbens	1
right frontal lobe	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
DAP3	294	ubiquitous	marker	body of pancreas, adrenal tissue, colonic epithelium
DLGAP3	150	broad	yes	right frontal lobe, anterior cingulate cortex, nucleus accumbens

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
DAP3	3,504
DLGAP3	1,613

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
DAP3	P51398	77

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
DLGAP3	O95886	50.83

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 8. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Neurexins and neuroligins	1	98.5×	0.024	DLGAP3
Mitochondrial translation	1	68.8×	0.024	DAP3
Mitochondrial translation initiation	1	63.4×	0.024	DAP3
Mitochondrial translation elongation	1	63.4×	0.024	DAP3
Mitochondrial ribosome-associated quality control	1	61.4×	0.024	DAP3
Mitochondrial translation termination	1	54.9×	0.024	DAP3
Translation	1	31.0×	0.037	DAP3
Metabolism of proteins	1	6.2×	0.155	DAP3

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
modification of postsynaptic structure	1	936.2×	0.004	DLGAP3
signaling	1	766.0×	0.004	DLGAP3
apoptotic mitochondrial changes	1	443.5×	0.005	DAP3
apoptotic signaling pathway	1	112.3×	0.011	DAP3
modulation of chemical synaptic transmission	1	91.6×	0.011	DLGAP3
mitochondrial translation	1	86.9×	0.011	DAP3

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
DAP3	0	0
DLGAP3	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
DAP3	2	Binding:2

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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	2	DAP3, DLGAP3

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
DAP3	2	—
DLGAP3	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.