Polycystic kidney disease 7
diseaseOn this page
Also known as PKD7
Summary
Polycystic kidney disease 7 (MONDO:0031062) is a disease caused by ALG5 (GenCC Strong), with 1 cohort gene.
At a glance
- Causal gene: ALG5 (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 14
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | polycystic kidney disease 7 |
| Mondo ID | MONDO:0031062 |
| OMIM | 620056 |
| DOID | DOID:0060952 |
| UMLS | C5774222 |
| MedGen | 1823995 |
| GARD | 0025690 |
| Is cancer (heuristic) | no |
Also known as: PKD7 · polycystic kidney disease 7
Data availability: 14 ClinVar variants · 4 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › autosomal dominant polycystic kidney disease › polycystic kidney disease 7
Related subtypes (6): polycystic kidney disease 1, polycystic kidney disease 3 with or without polycystic liver disease, polycystic kidney disease 2, polycystic kidney disease 6 with or without polycystic liver disease, ALG9-associated autosomal dominant polycystic kidney disease, polycystic kidney disease 8
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
14 retrieved; paginated sample, class counts are floors:
6 uncertain significance, 5 pathogenic, 3 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1708161 | NM_013338.5(ALG5):c.703_704del (p.Gln235fs) | ALG5 | Pathogenic | no assertion criteria provided |
| 1708162 | NM_013338.5(ALG5):c.773G>A (p.Trp258Ter) | ALG5 | Pathogenic | no assertion criteria provided |
| 1708163 | NM_013338.5(ALG5):c.635G>A (p.Arg212His) | ALG5 | Pathogenic | no assertion criteria provided |
| 1708164 | NM_013338.5(ALG5):c.623G>A (p.Arg208His) | ALG5 | Pathogenic | no assertion criteria provided |
| 3764100 | NM_013338.5(ALG5):c.235C>T (p.Arg79Trp) | ALG5 | Pathogenic | no assertion criteria provided |
| 3066151 | NM_013338.5(ALG5):c.672G>A (p.Trp224Ter) | ALG5 | Likely pathogenic | criteria provided, single submitter |
| 3236195 | NM_013338.5(ALG5):c.115C>T (p.Arg39Ter) | ALG5 | Likely pathogenic | criteria provided, single submitter |
| 3256865 | NM_013338.5(ALG5):c.239-2A>G | ALG5 | Likely pathogenic | criteria provided, single submitter |
| 3064450 | NM_013338.5(ALG5):c.746C>T (p.Thr249Met) | ALG5 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3234029 | NM_013338.5(ALG5):c.717ATT[1] (p.Leu240del) | ALG5 | Uncertain significance | criteria provided, single submitter |
| 3256644 | NM_013338.5(ALG5):c.705G>C (p.Gln235His) | ALG5 | Uncertain significance | criteria provided, single submitter |
| 3764802 | NM_013338.5(ALG5):c.638C>T (p.Thr213Ile) | ALG5 | Uncertain significance | criteria provided, single submitter |
| 3764803 | NM_013338.5(ALG5):c.704A>T (p.Gln235Leu) | ALG5 | Uncertain significance | criteria provided, single submitter |
| 3907697 | NM_013338.5(ALG5):c.925C>T (p.Arg309Ter) | ALG5 | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 5 · Orphanet: 1 · 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 |
|---|---|---|---|---|
| ALG5 | Strong | Autosomal dominant | polycystic kidney disease 7 | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| ALG5 | Orphanet:730 | Autosomal dominant polycystic kidney disease |
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 |
|---|---|---|---|---|---|
| ALG5 | HGNC:20266 | ENSG00000120697 | Q9Y673 | Dolichyl-phosphate beta-glucosyltransferase | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| ALG5 | Dolichyl-phosphate beta-glucosyltransferase | Dolichyl-phosphate beta-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. |
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) |
|---|---|---|---|---|
| ALG5 | Other/Unknown | no | Glyco_trans_2-like, Nucleotide-diphossugar_trans, DPG_synthase |
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 |
|---|---|
| body of pancreas | 1 |
| corpus epididymis | 1 |
| parotid gland | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| ALG5 | 285 | ubiquitous | marker | parotid gland, body of pancreas, corpus epididymis |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| ALG5 | 2,785 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| ALG5 | Q9Y673 | 92.29 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 6. 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 dolichyl-phosphate-glucose | 1 | 5710.0× | 0.001 | ALG5 |
| Synthesis of substrates in N-glycan biosythesis | 1 | 292.8× | 0.010 | ALG5 |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | 1 | 207.6× | 0.010 | ALG5 |
| Asparagine N-linked glycosylation | 1 | 60.1× | 0.025 | ALG5 |
| Post-translational protein modification | 1 | 19.2× | 0.063 | ALG5 |
| Metabolism of proteins | 1 | 12.4× | 0.081 | ALG5 |
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 |
|---|---|---|---|---|
| dolichol-linked oligosaccharide biosynthetic process | 1 | 842.6× | 0.003 | ALG5 |
| obsolete protein N-linked glycosylation via asparagine | 1 | 674.1× | 0.003 | ALG5 |
| protein N-linked glycosylation | 1 | 263.3× | 0.004 | ALG5 |
| determination of left/right symmetry | 1 | 255.3× | 0.004 | ALG5 |
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 |
|---|---|---|
| ALG5 | 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 | ALG5 |
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) |
|---|---|---|
| ALG5 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: ALG5