BDV syndrome

Summary

BDV syndrome (MONDO:0859150) is a disease caused by CPE (GenCC Strong), with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: CPE (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 7

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		8	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	BDV syndrome
Mondo ID	MONDO:0859150
OMIM	619326
Orphanet	633028
UMLS	C5543403
MedGen	1785671
GARD	0027308
Is cancer (heuristic)	no

Also known as: CPE-related Prader-Willi-like syndrome

Data availability: 7 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › Prader-Willi-like syndrome › BDV syndrome

Related subtypes (2): 6q16 deletion syndrome, SIM1-related Prader-Willi-like syndrome

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

7 retrieved; paginated sample, class counts are floors:

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

ClinVar	Variant (HGVS)	Gene	Classification	Review
1096917	NM_001873.4(CPE):c.405C>A (p.Tyr135Ter)	CPE	Pathogenic	no assertion criteria provided
1209851	NM_001873.4(CPE):c.361C>T (p.Arg121Ter)	CPE	Pathogenic	criteria provided, multiple submitters, no conflicts
649127	NM_001873.4(CPE):c.994del (p.Ser333fs)	CPE	Pathogenic	criteria provided, single submitter
689401	NM_001873.4(CPE):c.76_98del (p.Glu26fs)	CPE	Pathogenic	no assertion criteria provided
3340503	NM_001873.4(CPE):c.1208dup (p.Ser404fs)	CPE	Likely pathogenic	criteria provided, single submitter
1572366	NM_001873.4(CPE):c.1422A>G (p.Leu474=)	CPE	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
1645773	NM_001873.4(CPE):c.505-3dup	CPE	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
CPE	Strong	Autosomal recessive	BDV syndrome

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CPE	Orphanet:633028	CPE-related Prader-Willi-like 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
CPE	HGNC:2303	ENSG00000109472	P16870	Carboxypeptidase E	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CPE	Carboxypeptidase E	Sorting receptor that directs prohormones to the regulated secretory pathway.

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
Protease	1	36.6×	0.027

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CPE	Protease	yes	3.4.17.10	Peptidase_M14, CarboxyPept-like_regulatory, M14_CPE_CPD

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
caudate nucleus	1
paraflocculus	1
type B pancreatic cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CPE	284	ubiquitous	marker	type B pancreatic cell, caudate nucleus, paraflocculus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CPE	1,602

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CPE	P16870	90.83

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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
Insulin processing	1	456.8×	0.006	CPE
Peptide hormone metabolism	1	271.9×	0.006	CPE
Metabolism of proteins	1	12.4×	0.081	CPE

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
protein localization to secretory granule	1	5617.3×	0.002	CPE
peptide hormone secretion	1	2808.7×	0.002	CPE
insulin processing	1	1685.2×	0.002	CPE
cardiac left ventricle morphogenesis	1	1532.0×	0.002	CPE
peptide metabolic process	1	1203.7×	0.002	CPE
protein localization to membrane	1	601.9×	0.003	CPE
protein modification process	1	244.2×	0.006	CPE
neuropeptide signaling pathway	1	172.0×	0.007	CPE
protein processing	1	170.2×	0.007	CPE
Wnt signaling pathway	1	99.7×	0.010	CPE

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
CPE	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
CPE	3.4.17.10	carboxypeptidase E

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	1	CPE
E	Difficult family or no structure, no drug	0

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)
CPE	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.