dilated cardiomyopathy 1L

Summary

dilated cardiomyopathy 1L (MONDO:0011702) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 190

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	dilated cardiomyopathy 1L
Mondo ID	MONDO:0011702
MeSH	C564679
OMIM	606685
DOID	DOID:0110436
UMLS	C1847667
MedGen	335735
GARD	0015397
Is cancer (heuristic)	no

Also known as: cardiomyopathy, dilated, 1L · cardiomyopathy, dilated, type 1L · CMD1L · dilated cardiomyopathy type 1L · familial isolated dilated cardiomyopathy caused by mutation in SGCD · SGCD familial isolated dilated cardiomyopathy

Data availability: 190 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › qualitative or quantitative protein defects in neuromuscular diseases › sarcoglycanopathy › qualitative or quantitative defects of delta-sarcoglycan › dilated cardiomyopathy 1L

Related subtypes (1): autosomal recessive limb-girdle muscular dystrophy type 2F

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

190 retrieved; paginated sample, class counts are floors:

106 uncertain significance, 25 benign/likely benign, 18 likely benign, 15 likely pathogenic, 11 conflicting classifications of pathogenicity, 7 benign, 6 pathogenic, 2 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1451957	NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)	SGCD	Pathogenic	criteria provided, multiple submitters, no conflicts
1455950	NM_000337.6(SGCD):c.10C>T (p.Gln4Ter)	SGCD	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1677453	NM_000337.6(SGCD):c.289C>T (p.Arg97Ter)	SGCD	Pathogenic	reviewed by expert panel
2678700	NM_000337.6(SGCD):c.441dup (p.Leu148fs)	SGCD	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2713565	NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)	SGCD	Pathogenic	criteria provided, multiple submitters, no conflicts
8171	NM_000337.6(SGCD):c.657del (p.Thr220fs)	SGCD	Pathogenic	criteria provided, multiple submitters, no conflicts
8172	NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)	SGCD	Pathogenic	reviewed by expert panel
946381	NM_000337.6(SGCD):c.354_358del (p.Thr119fs)	SGCD	Pathogenic	criteria provided, multiple submitters, no conflicts
165232	NM_000337.6(SGCD):c.294+1G>A	SGCD	Likely pathogenic	criteria provided, multiple submitters, no conflicts
2678697	NM_000337.6(SGCD):c.227del (p.Gly76fs)	SGCD	Likely pathogenic	criteria provided, single submitter
2678698	NM_000337.6(SGCD):c.400del (p.Ala134fs)	SGCD	Likely pathogenic	criteria provided, single submitter
2678699	NM_000337.6(SGCD):c.717dup (p.Lys240fs)	SGCD	Likely pathogenic	criteria provided, single submitter
2678701	NM_000337.6(SGCD):c.699+1G>A	SGCD	Likely pathogenic	criteria provided, single submitter
2678702	NM_000337.6(SGCD):c.18_37del (p.Gln6fs)	SGCD	Likely pathogenic	criteria provided, single submitter
3362594	NM_000337.6(SGCD):c.339del (p.Asn113fs)	SGCD	Likely pathogenic	criteria provided, single submitter
3591901	NM_000337.6(SGCD):c.370C>T (p.Gln124Ter)	SGCD	Likely pathogenic	criteria provided, single submitter
3897675	NM_000337.6(SGCD):c.647A>T (p.Asn216Ile)	SGCD	Likely pathogenic	criteria provided, single submitter
551052	NM_000337.6(SGCD):c.192+1G>A	SGCD	Likely pathogenic	criteria provided, multiple submitters, no conflicts
553642	NM_000337.6(SGCD):c.69C>A (p.Tyr23Ter)	SGCD	Likely pathogenic	no assertion criteria provided
557061	NM_000337.6(SGCD):c.618del (p.Gly207fs)	SGCD	Likely pathogenic	no assertion criteria provided
558197	NM_000337.6(SGCD):c.699+1G>T	SGCD	Likely pathogenic	no assertion criteria provided
583211	NM_000337.6(SGCD):c.4-1G>T	SGCD	Likely pathogenic	criteria provided, multiple submitters, no conflicts
8174	NM_000337.6(SGCD):c.784G>A (p.Glu262Lys)	SGCD	Likely pathogenic	criteria provided, multiple submitters, no conflicts
165231	NM_000337.6(SGCD):c.193-12G>T	SGCD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
177914	NM_000337.6(SGCD):c.394G>A (p.Val132Ile)	SGCD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
177991	NM_000337.6(SGCD):c.-59G>A	SGCD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
178975	NM_000337.6(SGCD):c.4-12C>T	SGCD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
179031	NM_000337.6(SGCD):c.-44+11G>A	SGCD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
196255	NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)	SGCD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
287453	NM_000337.6(SGCD):c.383-33CTCTCTAT[4]	SGCD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · Orphanet: 2 · 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
SGCD	Supportive	Autosomal dominant	familial isolated dilated cardiomyopathy	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SGCD	Orphanet:154	Familial isolated dilated cardiomyopathy
SGCD	Orphanet:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

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
SGCD	HGNC:10807	ENSG00000170624	Q92629	Delta-sarcoglycan	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SGCD	Delta-sarcoglycan	Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.

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)
SGCD	Other/Unknown	no		Sarcoglycan, Sarcoglycan_gamma/delta/zeta

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
heart right ventricle	1
left ventricle myocardium	1
skeletal muscle tissue of rectus abdominis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SGCD	247	broad	marker	left ventricle myocardium, skeletal muscle tissue of rectus abdominis, heart right ventricle

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SGCD	1,102

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SGCD	Q92629	81.43

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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
Formation of the dystrophin-glycoprotein complex (DGC)	1	308.6×	0.010	SGCD
Non-integrin membrane-ECM interactions	1	154.3×	0.010	SGCD
Extracellular matrix organization	1	63.1×	0.016	SGCD

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
coronary vasculature morphogenesis	1	8426.0×	0.001	SGCD
cardiac muscle cell contraction	1	1685.2×	0.002	SGCD
protein-containing complex localization	1	991.3×	0.002	SGCD
cardiac muscle tissue development	1	887.0×	0.002	SGCD
heart contraction	1	766.0×	0.002	SGCD
cardiac muscle cell development	1	624.1×	0.002	SGCD
calcium ion homeostasis	1	443.5×	0.003	SGCD
calcium-mediated signaling	1	183.2×	0.006	SGCD
muscle organ development	1	166.8×	0.006	SGCD

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
SGCD	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	SGCD

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)
SGCD	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.