Bardet-Biedl syndrome 18

Summary

Bardet-Biedl syndrome 18 (MONDO:0014446) is a disease caused by BBIP1 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: BBIP1 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 21

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Bardet-Biedl syndrome 18
Mondo ID	MONDO:0014446
OMIM	615995
DOID	DOID:0110140
UMLS	C3806174
MedGen	812504
GARD	0016042
Is cancer (heuristic)	no

Also known as: Bardet-Biedl syndrome 18 · Bardet-Biedl syndrome caused by mutation in BBIP1 · Bardet-Biedl syndrome type 18 · BBIP1 Bardet-Biedl syndrome · BBS18

Data availability: 21 ClinVar variants · 4 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 18

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 5, 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 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

21 retrieved; paginated sample, class counts are floors:

16 uncertain significance, 2 likely benign, 2 conflicting classifications of pathogenicity, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
126379	NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)	BBIP1	Pathogenic	no assertion criteria provided
935918	NM_001195305.3(BBIP1):c.137T>C (p.Met46Thr)	BBIP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
965990	NM_001195305.3(BBIP1):c.116C>T (p.Pro39Leu)	BBIP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1044270	NM_001195305.3(BBIP1):c.263G>A (p.Arg88Gln)	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1054810	NM_001195305.3(BBIP1):c.233G>A (p.Arg78His)	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1359437	NM_001195305.3(BBIP1):c.175A>C (p.Lys59Gln)	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1364265	NM_001195305.3(BBIP1):c.245_248dup (p.Glu84fs)	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1501977	NM_001195305.3(BBIP1):c.142A>G (p.Met48Val)	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1513559	NM_001195305.3(BBIP1):c.85A>G (p.Met29Val)	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1803851	NM_001195305.3(BBIP1):c.-57+4A>C	BBIP1	Uncertain significance	criteria provided, single submitter
2439472	NM_001195305.3(BBIP1):c.187_188del (p.Leu63fs)	BBIP1	Uncertain significance	criteria provided, single submitter
3065828	NM_001195305.3(BBIP1):c.110A>G (p.Gln37Arg)	BBIP1	Uncertain significance	criteria provided, single submitter
548535	NM_001195305.3(BBIP1):c.38-6071C>G	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
917917	NM_001195305.3(BBIP1):c.38-6T>C	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
933603	NM_001195305.3(BBIP1):c.148_150dup (p.Leu50dup)	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
939645	NM_001195305.3(BBIP1):c.46A>T (p.Thr16Ser)	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
949986	NM_001195305.3(BBIP1):c.177A>T (p.Lys59Asn)	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
951609	NM_001195305.3(BBIP1):c.37+3A>T	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
968181	NM_001195305.3(BBIP1):c.50T>A (p.Ile17Lys)	BBIP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1149900	NM_001195305.3(BBIP1):c.168A>G (p.Leu56=)	BBIP1	Likely benign	criteria provided, multiple submitters, no conflicts
1158943	NM_001195305.3(BBIP1):c.150G>A (p.Leu50=)	BBIP1	Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · 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
BBIP1	Strong	Autosomal recessive	Bardet-Biedl syndrome 18	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
BBIP1	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
BBIP1	HGNC:28093	ENSG00000214413	A8MTZ0	BBSome-interacting protein 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BBIP1	BBSome-interacting protein 1	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)
BBIP1	Other/Unknown	no		BBIP10

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
buccal mucosa cell	1
epithelium of nasopharynx	1
sperm	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BBIP1	288	ubiquitous	marker	epithelium of nasopharynx, buccal mucosa cell, sperm

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BBIP1	29

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
BBIP1	A8MTZ0	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	BBIP1
Cargo trafficking to the periciliary membrane	1	248.3×	0.008	BBIP1
Cilium Assembly	1	108.8×	0.012	BBIP1
Organelle biogenesis and maintenance	1	66.0×	0.015	BBIP1

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
receptor localization to non-motile cilium	1	3370.4×	0.002	BBIP1
erythrocyte homeostasis	1	1296.3×	0.003	BBIP1
eating behavior	1	601.9×	0.004	BBIP1
B cell homeostasis	1	561.7×	0.004	BBIP1
Wnt signaling pathway	1	99.7×	0.016	BBIP1
gene expression	1	79.9×	0.016	BBIP1
cilium assembly	1	73.6×	0.016	BBIP1
protein transport	1	43.9×	0.023	BBIP1

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
BBIP1	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	BBIP1

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)
BBIP1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.