Qualitative or quantitative defects of delta-sarcoglycan
diseaseOn this page
Also known as delta-sarcoglycanopathy
Summary
Qualitative or quantitative defects of delta-sarcoglycan (MONDO:0016144) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 197
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | qualitative or quantitative defects of delta-sarcoglycan |
| Mondo ID | MONDO:0016144 |
| Orphanet | 207070 |
| UMLS | C5680806 |
| MedGen | 1826098 |
| GARD | 0020393 |
| Is cancer (heuristic) | no |
Also known as: delta-sarcoglycanopathy
Data availability: 197 ClinVar variants.
Disease family
An umbrella term covering 2 Mondo subtypes.
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
Related subtypes (3): qualitative or quantitative defects of alpha-sarcoglycan, qualitative or quantitative defects of beta-sarcoglycan, qualitative or quantitative defects of gamma-sarcoglycan
Subtypes (2): autosomal recessive limb-girdle muscular dystrophy type 2F, dilated cardiomyopathy 1L
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
197 retrieved; paginated sample, class counts are floors:
124 uncertain significance, 26 benign/likely benign, 19 benign, 15 conflicting classifications of pathogenicity, 13 likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 165222 | NC_000005.10:g.156326924T>C | 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 |
| 352330 | NM_000337.5(SGCD):c.-135C>T | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 352331 | NM_000337.6(SGCD):c.-30G>A | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 352335 | NM_000337.6(SGCD):c.510G>A (p.Glu170=) | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 378577 | NM_000337.6(SGCD):c.717G>A (p.Ala239=) | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 43358 | NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 464023 | NM_000337.6(SGCD):c.832G>A (p.Ala278Thr) | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 48112 | NC_000005.10:g.156326904C>G | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 48113 | NC_000005.10:g.156326864A>T | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 48115 | NM_000337.6(SGCD):c.123C>G (p.Leu41=) | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 48116 | NM_000337.6(SGCD):c.213G>A (p.Arg71=) | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 506908 | NM_000337.6(SGCD):c.3+14G>A | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 904489 | NM_000337.6(SGCD):c.699+15G>A | SGCD | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 352332 | NM_000337.6(SGCD):c.193-10T>A | SGCD | Uncertain significance | criteria provided, single submitter |
| 352333 | NM_000337.6(SGCD):c.383-14T>C | SGCD | Uncertain significance | criteria provided, single submitter |
| 352336 | NM_000337.6(SGCD):c.716C>T (p.Ala239Val) | SGCD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 352337 | NM_000337.6(SGCD):c.*148G>A | SGCD | Uncertain significance | criteria provided, single submitter |
| 352339 | NM_000337.6(SGCD):c.*158G>A | SGCD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 352340 | NM_000337.6(SGCD):c.*317C>T | SGCD | Uncertain significance | criteria provided, single submitter |
| 352343 | NM_000337.6(SGCD):c.*557A>C | SGCD | Uncertain significance | criteria provided, single submitter |
| 352344 | NM_000337.6(SGCD):c.*560C>T | SGCD | Uncertain significance | criteria provided, single submitter |
| 352345 | NM_000337.6(SGCD):c.*753C>T | SGCD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 352346 | NM_000337.6(SGCD):c.*767A>T | SGCD | Uncertain significance | criteria provided, single submitter |
| 352349 | NM_000337.6(SGCD):c.*906C>T | SGCD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 352355 | NM_000337.6(SGCD):c.*1719G>A | SGCD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 352357 | NM_000337.6(SGCD):c.*1856A>T | SGCD | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 352358 | NM_000337.6(SGCD):c.*1871G>A | SGCD | Uncertain significance | criteria provided, single submitter |
| 352360 | NM_000337.6(SGCD):c.*2316G>A | SGCD | Uncertain significance | 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 |
|---|---|---|
| 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 | 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.
Related Atlas pages
- Cohort genes: SGCD