MKKS-related ciliopathy

disease

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Summary

MKKS-related ciliopathy (MONDO:1040050) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	MKKS-related ciliopathy
Mondo ID	MONDO:1040050
GARD	0027252
Is cancer (heuristic)	no

Also known as: MKKS-related ciliopathy

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › ciliopathy › MKKS-related ciliopathy

Subtypes (2): McKusick-Kaufman syndrome, Bardet-Biedl 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

1 retrieved; paginated sample, class counts are floors:

1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
5309	NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)	MKKS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MKKS	Orphanet:110	Bardet-Biedl syndrome
MKKS	Orphanet:2473	McKusick-Kaufman 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
MKKS	HGNC:7108	ENSG00000125863	Q9NPJ1	Molecular chaperone MKKS	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MKKS	Molecular chaperone MKKS	Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis.

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)
MKKS	Other/Unknown	no		Cpn60/GroEL/TCP-1, GroEL-like_apical_dom_sf, TCP-1-like_intermed_sf

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
endothelial cell	1
middle temporal gyrus	1
prefrontal cortex	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MKKS	277	ubiquitous	marker	middle temporal gyrus, endothelial cell, prefrontal cortex

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MKKS	2,728

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MKKS	Q9NPJ1	89.05

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	MKKS
Cargo trafficking to the periciliary membrane	1	248.3×	0.008	MKKS
Cilium Assembly	1	108.8×	0.012	MKKS
Organelle biogenesis and maintenance	1	66.0×	0.015	MKKS

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
pigment granule aggregation in cell center	1	8426.0×	0.002	MKKS
convergent extension involved in gastrulation	1	8426.0×	0.002	MKKS
negative regulation of appetite by leptin-mediated signaling pathway	1	4213.0×	0.002	MKKS
response to inositol	1	4213.0×	0.002	MKKS
artery smooth muscle contraction	1	1872.4×	0.003	MKKS
regulation of cilium beat frequency involved in ciliary motility	1	1872.4×	0.003	MKKS
gonad development	1	1123.5×	0.003	MKKS
striatum development	1	1123.5×	0.003	MKKS
regulation of stress fiber assembly	1	991.3×	0.003	MKKS
negative regulation of actin filament polymerization	1	936.2×	0.003	MKKS
detection of mechanical stimulus involved in sensory perception of sound	1	936.2×	0.003	MKKS
face development	1	802.5×	0.003	MKKS
melanosome transport	1	766.0×	0.003	MKKS
brain morphogenesis	1	732.7×	0.003	MKKS
chaperone-mediated protein complex assembly	1	702.2×	0.003	MKKS
developmental process	1	674.1×	0.003	MKKS
negative regulation of blood pressure	1	648.1×	0.003	MKKS
positive regulation of multicellular organism growth	1	495.6×	0.004	MKKS
vasodilation	1	366.4×	0.005	MKKS
photoreceptor cell maintenance	1	358.6×	0.005	MKKS
non-motile cilium assembly	1	290.6×	0.006	MKKS
social behavior	1	271.8×	0.006	MKKS
heart looping	1	267.5×	0.006	MKKS
determination of left/right symmetry	1	255.3×	0.006	MKKS
cartilage development	1	251.5×	0.006	MKKS
hippocampus development	1	230.8×	0.006	MKKS
cerebral cortex development	1	205.5×	0.006	MKKS
fat cell differentiation	1	181.2×	0.007	MKKS
sensory perception of smell	1	156.0×	0.008	MKKS
spermatid development	1	145.3×	0.008	MKKS

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
MKKS	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	MKKS

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)
MKKS	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: MKKS