Cranioectodermal dysplasia 6

Summary

Cranioectodermal dysplasia 6 (MONDO:0979883) 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	cranioectodermal dysplasia 6
Mondo ID	MONDO:0979883
OMIM	621337
GARD	0028127
Is cancer (heuristic)	no

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal recessive disease › craniosynostosis syndrome, autosomal recessive › cranioectodermal dysplasia › cranioectodermal dysplasia 6

Related subtypes (6): cranioectodermal dysplasia 2, cranioectodermal dysplasia 3, cranioectodermal dysplasia 4, short-rib thoracic dysplasia 16 with or without polydactyly, cranioectodermal dysplasia 1, cranioectodermal dysplasia 5

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

ClinVar	Variant (HGVS)	Gene	Classification	Review
3366972	NM_014920.5(CILK1):c.1664_1665del (p.Tyr555fs)	CILK1	Pathogenic	criteria provided, single submitter

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
CILK1	Orphanet:199332	Endocrine-cerebro-osteodysplasia syndrome
CILK1	Orphanet:307	Juvenile myoclonic epilepsy

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
CILK1	HGNC:21219	ENSG00000112144	Q9UPZ9	Serine/threonine-protein kinase ICK	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CILK1	Serine/threonine-protein kinase ICK	Required for ciliogenesis.

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
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CILK1	Kinase	yes		Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_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
adrenal tissue	1
cortical plate	1
palpebral conjunctiva	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CILK1	268	ubiquitous	marker	adrenal tissue, palpebral conjunctiva, cortical plate

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CILK1	1,317

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CILK1	Q9UPZ9	61.47

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
intraciliary retrograde transport	1	1123.5×	0.004	CILK1
intraciliary anterograde transport	1	887.0×	0.004	CILK1
intraciliary transport	1	561.7×	0.004	CILK1
cilium assembly	1	73.6×	0.021	CILK1
protein phosphorylation	1	68.0×	0.021	CILK1
intracellular signal transduction	1	38.1×	0.031	CILK1
signal transduction	1	16.1×	0.062	CILK1

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
CILK1	MOMELOTINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CILK1	24	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MOMELOTINIB	4	CILK1
FEDRATINIB	4	CILK1
PACRITINIB	4	CILK1
ABEMACICLIB	4	CILK1
NINTEDANIB	4	CILK1
SUNITINIB	4	CILK1
MIDOSTAURIN	4	CILK1
DINACICLIB	3	CILK1
ENZASTAURIN	3	CILK1
ALVOCIDIB	3	CILK1
LESTAURTINIB	3	CILK1
RUBOXISTAURIN	3	CILK1
SILMITASERTIB	2	CILK1
SU-014813	2	CILK1
RG-547	2	CILK1
AT-7519	2	CILK1
PICTILISIB	2	CILK1
MILCICLIB	2	CILK1
SOTRASTAURIN	2	CILK1
KW-2449	1	CILK1
BMS-387032	1	CILK1
PF-03758309	1	CILK1
RGB-286638	1	CILK1
AST-487	1	CILK1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
CILK1	119	Binding:119

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
CILK1	119

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

24 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.

Compound	Max phase	Cohort target (bioactivity)
MOMELOTINIB	4	CILK1
FEDRATINIB	4	CILK1
PACRITINIB	4	CILK1
ABEMACICLIB	4	CILK1
NINTEDANIB	4	CILK1
SUNITINIB	4	CILK1
MIDOSTAURIN	4	CILK1
DINACICLIB	3	CILK1
ENZASTAURIN	3	CILK1
ALVOCIDIB	3	CILK1
LESTAURTINIB	3	CILK1
RUBOXISTAURIN	3	CILK1
SILMITASERTIB	2	CILK1
SU-014813	2	CILK1
RG-547	2	CILK1
AT-7519	2	CILK1
PICTILISIB	2	CILK1
MILCICLIB	2	CILK1
SOTRASTAURIN	2	CILK1
KW-2449	1	CILK1
BMS-387032	1	CILK1
PF-03758309	1	CILK1
RGB-286638	1	CILK1
AST-487	1	CILK1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	CILK1
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	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.