dilated cardiomyopathy 1X

Summary

dilated cardiomyopathy 1X (MONDO:0012704) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 232

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	dilated cardiomyopathy 1X
Mondo ID	MONDO:0012704
MeSH	C566907
OMIM	611615
DOID	DOID:0110444
UMLS	C1969024
MedGen	370583
GARD	0015522
Is cancer (heuristic)	no

Also known as: cardiomyopathy, dilated, 1X · cardiomyopathy, dilated, type 1X · CMD1X · dilated cardiomyopathy type 1X · familial isolated dilated cardiomyopathy caused by mutation in FKTN · FKTN familial isolated dilated cardiomyopathy

Data availability: 232 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › cardiomyopathy › intrinsic cardiomyopathy › dilated cardiomyopathy › familial dilated cardiomyopathy › familial isolated dilated cardiomyopathy › dilated cardiomyopathy 1X

Related subtypes (44): dilated cardiomyopathy 1A, dilated cardiomyopathy 3B, dilated cardiomyopathy 1B, dilated cardiomyopathy 1E, dilated cardiomyopathy 1C, dilated cardiomyopathy 1D, dilated cardiomyopathy 1G, dilated cardiomyopathy 1H, dilated cardiomyopathy 1I, dilated cardiomyopathy 1K, dilated cardiomyopathy 1L, dilated cardiomyopathy 1M, dilated cardiomyopathy 1O, dilated cardiomyopathy 1P, dilated cardiomyopathy 1Q, dilated cardiomyopathy 1W, dilated cardiomyopathy 1Y, dilated cardiomyopathy 1Z, dilated cardiomyopathy 2A, dilated cardiomyopathy 1AA, dilated cardiomyopathy 1BB, dilated cardiomyopathy 1CC, dilated cardiomyopathy 1DD, dilated cardiomyopathy 1EE, dilated cardiomyopathy 1FF, dilated cardiomyopathy 1R, dilated cardiomyopathy 1S, dilated cardiomyopathy 1GG, dilated cardiomyopathy 1U, dilated cardiomyopathy 1V, dilated cardiomyopathy 1HH, dilated cardiomyopathy 2B, dilated cardiomyopathy 1II, dilated cardiomyopathy 1JJ, dilated cardiomyopathy 1KK, left ventricular noncompaction 8, left ventricular noncompaction 10, dilated cardiomyopathy 1NN, cardiomyopathy, dilated, 2D, cardiomyopathy, dilated, 2E, cardiomyopathy, dilated, 2F, cardiomyopathy, dilated, 2G, cardiomyopathy, dilated, 2c, cardiomyopathy, dilated, 2H

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

232 retrieved; paginated sample, class counts are floors:

84 uncertain significance, 55 conflicting classifications of pathogenicity, 41 likely pathogenic, 26 pathogenic/likely pathogenic, 12 benign/likely benign, 11 pathogenic, 3 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1012340	NM_001079802.2(FKTN):c.165+1427A>G	FKTN	Pathogenic	no assertion criteria provided
1068744	NM_001079802.2(FKTN):c.1022del (p.Pro341fs)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1252030	NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)	FKTN	Pathogenic	criteria provided, multiple submitters, no conflicts
1322920	NM_001079802.2(FKTN):c.1167del (p.Lys389fs)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
167069	NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1970586	NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2106216	NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2140911	NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
225359	NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675719	NM_001079802.2(FKTN):c.540del (p.Ser180fs)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675731	NM_001079802.2(FKTN):c.910+1G>C	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
281839	NM_001079802.2(FKTN):c.330dup (p.Thr111fs)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
283622	NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3199	NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]	FKTN	Pathogenic	no assertion criteria provided
3200	NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)	FKTN	Pathogenic	criteria provided, multiple submitters, no conflicts
3203	NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	FKTN	Pathogenic	criteria provided, multiple submitters, no conflicts
3205	NM_001079802.2(FKTN):c.454dup (p.Ser152fs)	FKTN	Pathogenic	criteria provided, multiple submitters, no conflicts
3206	NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)	FKTN	Pathogenic	criteria provided, multiple submitters, no conflicts
3208	NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3209	NM_001079802.2(FKTN):c.1073A>C (p.Gln358Pro)	FKTN	Pathogenic	no assertion criteria provided
3216	NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	FKTN	Pathogenic	criteria provided, multiple submitters, no conflicts
3241632	NM_001079802.2(FKTN):c.1058T>A (p.Leu353Ter)	FKTN	Pathogenic	criteria provided, single submitter
3596214	NM_001079802.2(FKTN):c.1045-6C>G	FKTN	Pathogenic	criteria provided, multiple submitters, no conflicts
371091	NM_001079802.2(FKTN):c.1106del (p.Phe369fs)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
496331	NM_001079802.2(FKTN):c.648-1243G>T	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
557908	NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
558161	NM_001079802.2(FKTN):c.1172+1G>A	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
595560	NM_001079802.2(FKTN):c.911-1G>A	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
596647	NM_001079802.2(FKTN):c.369+1G>C	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
620364	NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)	FKTN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 13 · Orphanet: 6 · 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
FKTN	Supportive	Autosomal dominant	familial isolated dilated cardiomyopathy	13

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FKTN	Orphanet:154	Familial isolated dilated cardiomyopathy
FKTN	Orphanet:206554	Fukutin-related limb-girdle muscular dystrophy R13
FKTN	Orphanet:272	Congenital muscular dystrophy, Fukuyama type
FKTN	Orphanet:370980	Congenital muscular dystrophy without intellectual disability
FKTN	Orphanet:588	Muscle-eye-brain disease
FKTN	Orphanet:899	Walker-Warburg 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
FKTN	HGNC:3622	ENSG00000106692	O75072	Ribitol-5-phosphate transferase FKTN	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FKTN	Ribitol-5-phosphate transferase FKTN	Catalyzes the transfer of a ribitol-phosphate from CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydra…

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)
FKTN	Other/Unknown	no		LicD/FKTN/FKRP_NTP_transf, FKTN/MNN-like, FKTN_N

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
adrenal tissue	1
calcaneal tendon	1
germinal epithelium of ovary	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FKTN	277	ubiquitous	yes	calcaneal tendon, adrenal tissue, germinal epithelium of ovary

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FKTN	1,226

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
FKTN	O75072	92.48

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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
Matriglycan biosynthesis on DAG1	1	815.7×	0.001	FKTN

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
cerebellar cortex development	1	2106.5×	0.003	FKTN
skeletal muscle fiber differentiation	1	1685.2×	0.003	FKTN
protein O-linked glycosylation via mannose	1	936.2×	0.004	FKTN
negative regulation of JNK cascade	1	561.7×	0.004	FKTN
basement membrane organization	1	510.7×	0.004	FKTN
protein O-linked glycosylation	1	224.7×	0.007	FKTN
cerebral cortex development	1	205.5×	0.007	FKTN
muscle organ development	1	166.8×	0.007	FKTN
nervous system development	1	45.9×	0.024	FKTN
negative regulation of cell population proliferation	1	42.1×	0.024	FKTN

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
FKTN	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	FKTN

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)
FKTN	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.