Ciliary dyskinesia, primary, 42

Summary

Ciliary dyskinesia, primary, 42 (MONDO:0032872) is a disease caused by MCIDAS (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: MCIDAS (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 16

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ciliary dyskinesia, primary, 42
Mondo ID	MONDO:0032872
OMIM	618695
DOID	DOID:0111855
UMLS	C5231464
MedGen	1684665
GARD	0016373
Is cancer (heuristic)	no

Also known as: CILD42

Data availability: 16 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › primary ciliary dyskinesia › ciliary dyskinesia, primary, 42

Related subtypes (58): ciliary discoordination due to random ciliary orientation, ciliary dyskinesia with transposition of ciliary microtubules, ciliary dyskinesia with defective radial spokes, ciliary dyskinesia with excessively long cilia, Stromme syndrome, primary ciliary dyskinesia 1, ciliary dyskinesia, primary, 36, X-linked, primary ciliary dyskinesia 2, primary ciliary dyskinesia 3, primary ciliary dyskinesia 4, primary ciliary dyskinesia 5, primary ciliary dyskinesia 6, primary ciliary dyskinesia 7, primary ciliary dyskinesia 8, primary ciliary dyskinesia 9, primary ciliary dyskinesia 10, primary ciliary dyskinesia 11, primary ciliary dyskinesia 12, primary ciliary dyskinesia 13, primary ciliary dyskinesia 14, primary ciliary dyskinesia 15, primary ciliary dyskinesia 16, primary ciliary dyskinesia 17, primary ciliary dyskinesia 18, primary ciliary dyskinesia 19, primary ciliary dyskinesia 20, primary ciliary dyskinesia 21, primary ciliary dyskinesia 22, primary ciliary dyskinesia 23, primary ciliary dyskinesia 24, primary ciliary dyskinesia 25, primary ciliary dyskinesia 26, primary ciliary dyskinesia 27, primary ciliary dyskinesia 28, primary ciliary dyskinesia 29, primary ciliary dyskinesia 30, primary ciliary dyskinesia 32, primary ciliary dyskinesia 33, primary ciliary dyskinesia 34, primary ciliary dyskinesia 35, ciliary dyskinesia, primary, 46, ciliary dyskinesia, primary, 47, and lissencephaly, ciliary dyskinesia, primary, 48, without situs inversus, ciliary dyskinesia, primary, 39, ciliary dyskinesia, primary, 40, ciliary dyskinesia, primary, 41, ciliary dyskinesia, primary, 43, ciliary dyskinesia, primary, 44, ciliary dyskinesia, primary, 45, ciliary dyskinesia, primary, 37, ciliary dyskinesia, primary, 38, ciliary dyskinesia, primary, 54, ciliary dyskinesia, primary, 49, without situs inversus, ciliary dyskinesia, primary, 50, ciliary dyskinesia, primary, 51, ciliary dyskinesia, primary, 52, ciliary dyskinesia, primary, 53, CFAP46-related primary ciliary dyskinesia

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

16 retrieved; paginated sample, class counts are floors:

4 conflicting classifications of pathogenicity, 3 pathogenic, 3 uncertain significance, 2 likely pathogenic, 2 benign/likely benign, 1 benign, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
209007	NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter)	MCIDAS	Pathogenic	no assertion criteria provided
209008	NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp)	MCIDAS	Pathogenic	no assertion criteria provided
800285	NM_001190787.3(MCIDAS):c.717+2T>G	MCIDAS	Pathogenic	no assertion criteria provided
209009	NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)	MCIDAS	Likely pathogenic	criteria provided, single submitter
2690641	NM_001190787.3(MCIDAS):c.501del (p.Pro168fs)	MCIDAS	Likely pathogenic	criteria provided, single submitter
1574564	NM_001190787.3(MCIDAS):c.121-19C>A	MCIDAS	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
238618	NM_001190787.3(MCIDAS):c.120+3G>A	MCIDAS	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
238621	NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)	MCIDAS	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
238623	NM_001190787.3(MCIDAS):c.856G>A (p.Glu286Lys)	MCIDAS	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2428733	NM_001190787.3(MCIDAS):c.120+2dup	MCIDAS	Uncertain significance	criteria provided, single submitter
2585452	NM_001190787.3(MCIDAS):c.382G>A (p.Asp128Asn)	MCIDAS	Uncertain significance	criteria provided, single submitter
939353	NM_001190787.3(MCIDAS):c.1040C>T (p.Ser347Phe)	MCIDAS	Uncertain significance	criteria provided, multiple submitters, no conflicts
238622	NM_001190787.3(MCIDAS):c.821G>A (p.Gly274Glu)	MCIDAS	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
403074	NM_001190787.3(MCIDAS):c.831C>T (p.Cys277=)	MCIDAS	Benign	criteria provided, multiple submitters, no conflicts
454526	NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=)	MCIDAS	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
454527	NM_001190787.3(MCIDAS):c.218-13_218-6dup	MCIDAS	Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · 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
MCIDAS	Strong	Autosomal recessive	ciliary dyskinesia, primary, 42	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MCIDAS	Orphanet:244	Primary ciliary dyskinesia

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
MCIDAS	HGNC:40050	ENSG00000234602	D6RGH6	Multicilin	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MCIDAS	Multicilin	Transcription regulator specifically required for multiciliate cell differentiation.

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)
MCIDAS	Other/Unknown	no		Geminin/Multicilin

Expression context

Cohort genes with no expression data: 0.

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 lobe of thyroid gland	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MCIDAS	53		yes	male germ line stem cell (sensu Vertebrata) in testis, olfactory segment of nasal mucosa, right lobe of thyroid gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MCIDAS	582

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MCIDAS	D6RGH6	1

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
centriole assembly	1	2808.7×	0.002	MCIDAS
multi-ciliated epithelial cell differentiation	1	2808.7×	0.002	MCIDAS
regulation of DNA-templated DNA replication initiation	1	1053.2×	0.004	MCIDAS
seminiferous tubule development	1	766.0×	0.004	MCIDAS
regulation of cilium assembly	1	601.9×	0.004	MCIDAS
motile cilium assembly	1	581.1×	0.004	MCIDAS
negative regulation of cell cycle	1	290.6×	0.006	MCIDAS
regulation of mitotic cell cycle	1	240.7×	0.007	MCIDAS
single fertilization	1	183.2×	0.008	MCIDAS
cilium assembly	1	73.6×	0.018	MCIDAS
spermatogenesis	1	35.2×	0.034	MCIDAS
positive regulation of DNA-templated transcription	1	27.9×	0.039	MCIDAS
positive regulation of transcription by RNA polymerase II	1	14.9×	0.067	MCIDAS

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
MCIDAS	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	MCIDAS

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)
MCIDAS	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.