dilated cardiomyopathy 1GG

Summary

dilated cardiomyopathy 1GG (MONDO:0013339) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 334

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	dilated cardiomyopathy 1GG
Mondo ID	MONDO:0013339
OMIM	613642
DOID	DOID:0110435
UMLS	C3150898
MedGen	462248
GARD	0015684
Is cancer (heuristic)	no

Also known as: cardiomyopathy, dilated, 1GG · cardiomyopathy, dilated, type 1Gg · CMD1GG · dilated cardiomyopathy type 1GG · familial isolated dilated cardiomyopathy caused by mutation in SDHA · SDHA familial isolated dilated cardiomyopathy

Data availability: 334 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 1GG

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 1X, 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 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

334 retrieved; paginated sample, class counts are floors:

196 uncertain significance, 70 conflicting classifications of pathogenicity, 29 pathogenic/likely pathogenic, 15 benign/likely benign, 11 likely pathogenic, 7 pathogenic, 6 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1070947	NM_004168.4(SDHA):c.1012del (p.Ala338fs)	SDHA	Pathogenic	criteria provided, multiple submitters, no conflicts
141876	NM_004168.4(SDHA):c.667del (p.Asp223fs)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
160358	NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1709506	NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)	SDHA	Pathogenic	criteria provided, multiple submitters, no conflicts
209127	NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
230564	NM_004168.4(SDHA):c.310_311dup (p.Gln104fs)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
231173	NM_004168.4(SDHA):c.1663+1G>T	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
239647	NM_004168.4(SDHA):c.1432_1432+1del	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
239658	NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
239672	NM_004168.4(SDHA):c.457-2_457del	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2678627	NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2678631	NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
30132	NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
371805	NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3892371	NM_004168.4(SDHA):c.1335_1337delinsTC (p.Val446fs)	SDHA	Pathogenic	criteria provided, single submitter
412328	NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)	SDHA	Pathogenic	criteria provided, multiple submitters, no conflicts
412346	NM_004168.4(SDHA):c.762_770+17del	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
412357	NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
412366	NM_004168.4(SDHA):c.1615dup (p.Ile539fs)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
412398	NM_004168.4(SDHA):c.2T>C (p.Met1Thr)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
418987	NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
422382	NM_004168.4(SDHA):c.2T>G (p.Met1Arg)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
472288	NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
472289	NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
472290	NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
472291	NM_004168.4(SDHA):c.688del (p.Glu230fs)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
480771	NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)	SDHA	Pathogenic	criteria provided, multiple submitters, no conflicts
539663	NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
568815	NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)	SDHA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
575469	NM_004168.4(SDHA):c.995_996del (p.Pro332fs)	SDHA	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 20 · 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
SDHA	Supportive	Autosomal dominant	familial isolated dilated cardiomyopathy	20

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SDHA	Orphanet:139411	Carney triad
SDHA	Orphanet:154	Familial isolated dilated cardiomyopathy
SDHA	Orphanet:29072	Hereditary pheochromocytoma-paraganglioma
SDHA	Orphanet:3208	Isolated succinate-CoQ reductase deficiency
SDHA	Orphanet:44890	Gastrointestinal stromal tumor
SDHA	Orphanet:97286	Carney-Stratakis 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
SDHA	HGNC:10680	ENSG00000073578	P31040	Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SDHA	Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial	Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).

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)
SDHA	Other/Unknown	no		FRD_SDH_FAD_BS, FAD-dep_OxRdtase_2_FAD-bd, Succ_DH_flav_su_fwd

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
apex of heart	1
heart left ventricle	1
mucosa of transverse colon	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SDHA	143	ubiquitous	marker	apex of heart, heart left ventricle, mucosa of transverse colon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SDHA	6,141

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SDHA	P31040	5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 5. 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
Maturation of TCA enzymes and regulation of TCA cycle	1	571.0×	0.006	SDHA
Citric acid cycle (TCA cycle)	1	423.0×	0.006	SDHA
Respiratory electron transport	1	95.2×	0.014	SDHA
Aerobic respiration and respiratory electron transport	1	88.5×	0.014	SDHA
Metabolism	1	11.6×	0.086	SDHA

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
succinate metabolic process	1	3370.4×	9e-04	SDHA
mitochondrial electron transport, succinate to ubiquinone	1	3370.4×	9e-04	SDHA
respiratory electron transport chain	1	842.6×	0.002	SDHA
tricarboxylic acid cycle	1	510.7×	0.003	SDHA
proton motive force-driven mitochondrial ATP synthesis	1	263.3×	0.005	SDHA
nervous system development	1	45.9×	0.022	SDHA

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
SDHA	LINEZOLID

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SDHA	1	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
LINEZOLID	4	SDHA

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
SDHA	3	Binding:3

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

1 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)
LINEZOLID	4	SDHA

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	SDHA
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.