Bardet-Biedl syndrome 13

Summary

Bardet-Biedl syndrome 13 (MONDO:0014441) is a disease caused by MKS1 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: MKS1 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 263

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Bardet-Biedl syndrome 13
Mondo ID	MONDO:0014441
MeSH	C567140
OMIM	615990
DOID	DOID:0110135
UMLS	C2673873
MedGen	393032
GARD	0016037
Is cancer (heuristic)	no

Also known as: Bardet-Biedl syndrome 13 · Bardet-Biedl syndrome caused by mutation in MKS1 · Bardet-Biedl syndrome type 13 · BBS13 · MKS1 Bardet-Biedl syndrome

Data availability: 263 ClinVar variants · 3 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 13

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 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

263 retrieved; paginated sample, class counts are floors:

120 uncertain significance, 47 likely pathogenic, 42 conflicting classifications of pathogenicity, 33 pathogenic/likely pathogenic, 9 benign, 5 pathogenic, 5 likely benign, 2 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1390	NM_017777.4(MKS1):c.80+2T>C	LOC130061271	Pathogenic/Likely pathogenic	no assertion criteria provided
56625	NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)	LOC130061271	Pathogenic	criteria provided, multiple submitters, no conflicts
1066216	NM_017777.4(MKS1):c.1273+1G>C	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073914	NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1363964	NM_017777.4(MKS1):c.805dup (p.Ser269fs)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1379652	NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1387955	NM_017777.4(MKS1):c.1071del (p.Cys358fs)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1391	NM_017777.4(MKS1):c.1024+1G>A	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1394	NM_017777.4(MKS1):c.1112_1114del (p.Phe371del)	MKS1	Pathogenic	criteria provided, single submitter
1452383	NM_017777.4(MKS1):c.1156G>T (p.Glu386Ter)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1456980	NM_017777.4(MKS1):c.191-1G>A	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1725690	NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
188334	NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)	MKS1	Pathogenic	criteria provided, multiple submitters, no conflicts
188400	NM_017777.4(MKS1):c.1408-34_1408-6del	MKS1	Pathogenic	criteria provided, multiple submitters, no conflicts
191084	NM_017777.4(MKS1):c.417+1G>A	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
194102	NM_017777.4(MKS1):c.1025-2A>C	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2009651	NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2026409	NM_017777.4(MKS1):c.81_82del	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2044174	NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2071903	NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
211503	NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2160287	NM_017777.4(MKS1):c.1408-14A>G	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
217672	NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
217677	NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
235405	NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2930403	NM_017777.4(MKS1):c.633del (p.Tyr213fs)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
371771	NM_017777.4(MKS1):c.1394del (p.Pro465fs)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
435876	NM_017777.4(MKS1):c.1408-1dup	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
554581	NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
56617	NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	MKS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 11 · Orphanet: 4 · 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
MKS1	Definitive	Autosomal recessive	Bardet-Biedl syndrome 13	11

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MKS1	Orphanet:110	Bardet-Biedl syndrome
MKS1	Orphanet:220493	Joubert syndrome with ocular defect
MKS1	Orphanet:475	Isolated Joubert syndrome
MKS1	Orphanet:564	Meckel 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
MKS1	HGNC:7121	ENSG00000011143	Q9NXB0	Tectonic-like complex member MKS1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MKS1	Tectonic-like complex member MKS1	Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.

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)
MKS1	Other/Unknown	no		C2_B9-type_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
left ovary	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
MKS1	182	ubiquitous	marker	right uterine tube, olfactory segment of nasal mucosa, left ovary

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MKS1	1,087

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MKS1	Q9NXB0	74.05

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 6. 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
Signaling by Hedgehog	1	184.2×	0.014	MKS1
Hedgehog ‘off’ state	1	178.4×	0.014	MKS1
Anchoring of the basal body to the plasma membrane	1	113.1×	0.014	MKS1
Cilium Assembly	1	108.8×	0.014	MKS1
Organelle biogenesis and maintenance	1	66.0×	0.018	MKS1
Signal Transduction	1	10.2×	0.098	MKS1

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
smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation	1	16852.0×	0.001	MKS1
common bile duct development	1	5617.3×	0.002	MKS1
regulation of Wnt signaling pathway, planar cell polarity pathway	1	3370.4×	0.002	MKS1
epithelial structure maintenance	1	1203.7×	0.003	MKS1
head development	1	1203.7×	0.003	MKS1
cardiac septum morphogenesis	1	1203.7×	0.003	MKS1
inner ear receptor cell stereocilium organization	1	842.6×	0.003	MKS1
dorsal/ventral neural tube patterning	1	802.5×	0.003	MKS1
embryonic brain development	1	802.5×	0.003	MKS1
branching morphogenesis of an epithelial tube	1	732.7×	0.003	MKS1
regulation of smoothened signaling pathway	1	624.1×	0.003	MKS1
motile cilium assembly	1	581.1×	0.003	MKS1
regulation of canonical Wnt signaling pathway	1	543.6×	0.003	MKS1
embryonic skeletal system development	1	391.9×	0.003	MKS1
embryonic digit morphogenesis	1	300.9×	0.004	MKS1
non-motile cilium assembly	1	290.6×	0.004	MKS1
determination of left/right symmetry	1	255.3×	0.004	MKS1
neural tube closure	1	187.2×	0.006	MKS1
cilium assembly	1	73.6×	0.014	MKS1

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
MKS1	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	MKS1

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)
MKS1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.