Bardet-Biedl syndrome 5

Summary

Bardet-Biedl syndrome 5 (MONDO:0014434) is a disease caused by BBS5 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: BBS5 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 106

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Bardet-Biedl syndrome 5
Mondo ID	MONDO:0014434
OMIM	615983
DOID	DOID:0110127
UMLS	C3892039
MedGen	856141
GARD	0010204
Is cancer (heuristic)	no

Also known as: Bardet-Biedl syndrome 5 · Bardet-Biedl syndrome caused by mutation in BBS5 · Bardet-Biedl syndrome type 5 · BBS5 · BBS5 Bardet-Biedl syndrome

Data availability: 106 ClinVar variants · 6 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › Bardet-Biedl syndrome › Bardet-Biedl syndrome 5

Related subtypes (21): Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome 16, Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 18, Bardet-Biedl syndrome 19, Bardet-Biedl syndrome 22, Bardet-Biedl syndrome 20, bardet-biedl syndrome 21

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

106 retrieved; paginated sample, class counts are floors:

52 uncertain significance, 15 pathogenic, 12 pathogenic/likely pathogenic, 12 likely pathogenic, 8 conflicting classifications of pathogenicity, 4 likely benign, 2 benign/likely benign, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1033147	NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)	BBS5	Pathogenic	criteria provided, multiple submitters, no conflicts
1071235	NM_152384.3(BBS5):c.24G>A (p.Trp8Ter)	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072279	NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs)	BBS5	Pathogenic	criteria provided, single submitter
1210083	NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)	BBS5	Pathogenic	criteria provided, multiple submitters, no conflicts
1679815	NM_152384.3:c.(?-60)(386+1_387-1)del	BBS5	Pathogenic	no assertion criteria provided
1679817	NM_152384.3(BBS5):c.1A>G (p.Met1Val)	BBS5	Pathogenic	no assertion criteria provided
1685564	NM_152384.3(BBS5):c.209-1G>A	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2191954	NM_152384.3(BBS5):c.944_960del (p.Val315fs)	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2671574	NM_152384.3(BBS5):c.420dup (p.Lys141Ter)	BBS5	Pathogenic	criteria provided, single submitter
2872966	NM_152384.3(BBS5):c.681+1G>T	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2883010	NM_152384.3(BBS5):c.54dup (p.Ala19fs)	BBS5	Pathogenic	criteria provided, multiple submitters, no conflicts
3014382	NM_152384.3(BBS5):c.1A>T (p.Met1Leu)	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3023492	NM_152384.3(BBS5):c.444del (p.Asn149fs)	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
434496	NM_152384.3(BBS5):c.966dup (p.Ala323fs)	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
531823	NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)	BBS5	Pathogenic	criteria provided, multiple submitters, no conflicts
569727	NM_152384.3(BBS5):c.143-1G>C	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
585187	NM_152384.3(BBS5):c.123del (p.Gly42fs)	BBS5	Pathogenic	criteria provided, multiple submitters, no conflicts
6157	NM_152384.3(BBS5):c.522+3A>G	BBS5	Pathogenic	criteria provided, single submitter
6158	NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)	BBS5	Pathogenic	no assertion criteria provided
6159	BBS5, 8-BP DEL/7-BP INS, NT263	BBS5	Pathogenic	no assertion criteria provided
6160	NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)	BBS5	Pathogenic	criteria provided, single submitter
6161	NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
6162	NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)	BBS5	Pathogenic	no assertion criteria provided
68066	NM_152384.3(BBS5):c.413G>A (p.Arg138His)	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
812118	NM_152384.3(BBS5):c.2T>A (p.Met1Lys)	BBS5	Pathogenic	criteria provided, multiple submitters, no conflicts
854247	NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
956784	NM_152384.3(BBS5):c.303dup (p.Asn102Ter)	BBS5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1333315	NM_152384.3(BBS5):c.898del (p.Val300fs)	BBS5	Likely pathogenic	criteria provided, single submitter
1878589	NM_152384.3(BBS5):c.142+1del	BBS5	Likely pathogenic	criteria provided, single submitter
191306	NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)	BBS5	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · 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
BBS5	Definitive	Autosomal recessive	Bardet-Biedl syndrome 5	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
BBS5	Orphanet:110	Bardet-Biedl 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
BBS5	HGNC:970	ENSG00000163093	Q8N3I7	BBSome complex member BBS5	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BBS5	BBSome complex member BBS5	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.

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)
BBS5	Other/Unknown	no		BBL5, PH-like_dom_sf, BBS5_PH

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
male germ line stem cell (sensu Vertebrata) in testis	1
olfactory segment of nasal mucosa	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BBS5	140	ubiquitous	marker	right uterine tube, male germ line stem cell (sensu Vertebrata) in testis, olfactory segment of nasal mucosa

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BBS5	983

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
BBS5	Q8N3I7	1

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
BBSome-mediated cargo-targeting to cilium	1	496.5×	0.008	BBS5
Cargo trafficking to the periciliary membrane	1	248.3×	0.008	BBS5
Cilium Assembly	1	108.8×	0.012	BBS5
Organelle biogenesis and maintenance	1	66.0×	0.015	BBS5

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
melanosome transport	1	766.0×	0.005	BBS5
motile cilium assembly	1	581.1×	0.005	BBS5
heart looping	1	267.5×	0.007	BBS5
visual perception	1	79.5×	0.016	BBS5
cilium assembly	1	73.6×	0.016	BBS5
protein transport	1	43.9×	0.023	BBS5

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
BBS5	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	BBS5

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)
BBS5	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.