Systemic lupus erythematosus 18
diseaseOn this page
Also known as SLEB18systemic lupus erythematosus related to PLD4
Summary
Systemic lupus erythematosus 18 (MONDO:1060185) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 7
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | systemic lupus erythematosus 18 |
| Mondo ID | MONDO:1060185 |
| OMIM | 621369 |
| GARD | 0028184 |
| Is cancer (heuristic) | no |
Also known as: SLEB18 · systemic lupus erythematosus related to PLD4
Data availability: 7 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by body system or component › connective tissue disorder › rheumatic disorder › lupus erythematosus › systemic lupus erythematosus › systemic lupus erythematosus 18
Related subtypes (11): autosomal systemic lupus erythematosus type 16, neonatal lupus erythematosus, pediatric systemic lupus erythematosus, central nervous system lupus, bullous systemic lupus erythematosus, systemic lupus erythematosus related to C4A, systemic lupus erythematosus 17, systemic lupus erythematosus related to C1QA, systemic lupus erythematosus related to C1S, systemic lupus erythematosus related to C1QC, systemic lupus erythematosus related to C1QB
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
7 retrieved; paginated sample, class counts are floors:
7 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 4277317 | P181L | PLD4 | Pathogenic | no assertion criteria provided |
| 4277318 | A323V | PLD4 | Pathogenic | no assertion criteria provided |
| 4277319 | D189E | PLD4 | Pathogenic | no assertion criteria provided |
| 4277320 | G457D | PLD4 | Pathogenic | no assertion criteria provided |
| 4277321 | PLD4, ARG201GLN | PLD4 | Pathogenic | no assertion criteria provided |
| 4277322 | PLD4, 1-BP DEL, 1088G | PLD4 | Pathogenic | no assertion criteria provided |
| 4277323 | PLD4, TYR248CYS | PLD4 | Pathogenic | no assertion criteria provided |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
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 |
|---|---|---|---|---|---|
| PLD4 | HGNC:23792 | ENSG00000166428 | Q96BZ4 | 5’-3’ exonuclease PLD4 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| PLD4 | 5’-3’ exonuclease PLD4 | 5’->3’ exonuclease that hydrolyzes the phosphodiester bond of single-stranded DNA (ssDNA) and RNA molecules to form nucleoside 3’-monophosphates and 5’-end 5’-hydroxy deoxyribonucleotide/ribonucleotide fragments. |
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) |
|---|---|---|---|---|
| PLD4 | Other/Unknown | no | PLipase_D/transphosphatidylase, PLDc_3, Diverse_PLD-related |
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 |
|---|---|
| granulocyte | 1 |
| leukocyte | 1 |
| monocyte | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| PLD4 | 163 | broad | marker | granulocyte, leukocyte, monocyte |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| PLD4 | 1,054 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| PLD4 | Q96BZ4 | 3 |
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 |
|---|---|---|---|---|
| Synthesis of PG | 1 | 1268.9× | 0.002 | PLD4 |
| Role of phospholipids in phagocytosis | 1 | 456.8× | 0.002 | PLD4 |
| Synthesis of IP3 and IP4 in the cytosol | 1 | 423.0× | 0.002 | PLD4 |
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 |
|---|---|---|---|---|
| regulation of cytokine production involved in inflammatory response | 1 | 1872.4× | 0.004 | PLD4 |
| phagocytosis | 1 | 240.7× | 0.010 | PLD4 |
| hematopoietic progenitor cell differentiation | 1 | 237.3× | 0.010 | PLD4 |
| establishment of localization in cell | 1 | 160.5× | 0.011 | PLD4 |
| lipid metabolic process | 1 | 91.6× | 0.015 | PLD4 |
| inflammatory response | 1 | 37.7× | 0.030 | PLD4 |
| innate immune response | 1 | 33.6× | 0.030 | PLD4 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| PLD4 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| PLD4 | 10 | Binding:10 |
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 | PLD4 |
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) |
|---|---|---|
| PLD4 | 10 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: PLD4