ALG9-associated autosomal dominant polycystic kidney disease
diseaseOn this page
Also known as ALG9 autosomal dominant polycystic kidney diseaseALG9 related autosomal dominant polycystic kidney diseaseALG9-associated ADPKDAutosomal Dominant Polycystic Kidney Disease - ALG9autosomal dominant polycystic kidney disease caused by mutation in ALG9
Summary
ALG9-associated autosomal dominant polycystic kidney disease (MONDO:0700000) is a disease caused by ALG9 (GenCC Strong), with 1 cohort gene.
At a glance
- Causal gene: ALG9 (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 9
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | ALG9-associated autosomal dominant polycystic kidney disease |
| Mondo ID | MONDO:0700000 |
| GARD | 0026304 |
| Is cancer (heuristic) | no |
Also known as: ALG9 autosomal dominant polycystic kidney disease · ALG9 related autosomal dominant polycystic kidney disease · ALG9-associated ADPKD · ALG9-associated autosomal dominant polycystic kidney disease · Autosomal Dominant Polycystic Kidney Disease - ALG9 · autosomal dominant polycystic kidney disease caused by mutation in ALG9
Data availability: 9 ClinVar variants · 1 GenCC gene-disease record.
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 › ALG9-associated autosomal dominant polycystic kidney disease
Related subtypes (6): polycystic kidney disease 1, polycystic kidney disease 3 with or without polycystic liver disease, polycystic kidney disease 2, polycystic kidney disease 7, polycystic kidney disease 6 with or without polycystic liver 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
9 retrieved; paginated sample, class counts are floors:
2 pathogenic/likely pathogenic, 2 likely pathogenic, 2 pathogenic, 2 uncertain significance, 1 conflicting classifications of pathogenicity
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 2443122 | NM_024740.2(ALG9):c.1225del (p.Arg409fs) | ALG9 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3345062 | NM_024740.2(ALG9):c.1163_1164del (p.Ser388fs) | ALG9 | Pathogenic | criteria provided, single submitter |
| 4531701 | NM_024740.2(ALG9):c.1534G>T (p.Gly512Ter) | ALG9 | Pathogenic | criteria provided, single submitter |
| 4705323 | NM_024740.2(ALG9):c.427C>T (p.Arg143Ter) | ALG9 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2633266 | NM_024740.2(ALG9):c.522del (p.Ala175fs) | ALG9 | Likely pathogenic | criteria provided, single submitter |
| 4531721 | NM_024740.2(ALG9):c.213T>A (p.Cys71Ter) | ALG9 | Likely pathogenic | criteria provided, single submitter |
| 1314309 | NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter) | ALG9 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 4531711 | NM_024740.2(ALG9):c.1109G>T (p.Arg370Ile) | ALG9 | Uncertain significance | criteria provided, single submitter |
| 523889 | NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) | ALG9 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 10 · 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 |
|---|---|---|---|---|
| ALG9 | Strong | Autosomal recessive | ALG9-congenital disorder of glycosylation | 10 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| ALG9 | Orphanet:730 | Autosomal dominant polycystic kidney disease |
| ALG9 | Orphanet:79328 | ALG9-CDG |
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 |
|---|---|---|---|---|---|
| ALG9 | HGNC:15672 | ENSG00000086848 | Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| ALG9 | Alpha-1,2-mannosyltransferase ALG9 | Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0
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 |
|---|---|---|---|
| Enzyme (other) | 1 | 12.0× | 0.083 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| ALG9 | Enzyme (other) | yes | 2.4.1.259 | GPI_mannosylTrfase |
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 |
| endothelial cell | 1 |
| ganglionic eminence | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| ALG9 | 240 | ubiquitous | marker | endothelial cell, body of pancreas, ganglionic eminence |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| ALG9 | 1,167 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| ALG9 | Q9H6U8 | 2 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 9. 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 |
|---|---|---|---|---|
| Defective ALG9 causes CDG-1l | 1 | 11420.0× | 8e-04 | ALG9 |
| Diseases associated with N-glycosylation of proteins | 1 | 634.4× | 0.007 | ALG9 |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | 1 | 207.6× | 0.014 | ALG9 |
| Diseases of glycosylation | 1 | 131.3× | 0.017 | ALG9 |
| Diseases of metabolism | 1 | 80.4× | 0.022 | ALG9 |
| Asparagine N-linked glycosylation | 1 | 60.1× | 0.025 | ALG9 |
| Post-translational protein modification | 1 | 19.2× | 0.067 | ALG9 |
| Disease | 1 | 13.1× | 0.081 | ALG9 |
| Metabolism of proteins | 1 | 12.4× | 0.081 | ALG9 |
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× | 0.002 | ALG9 |
| protein N-linked glycosylation | 1 | 263.3× | 0.004 | ALG9 |
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 |
|---|---|---|
| ALG9 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| ALG9 | 2.4.1.259, 2.4.1.261 | dolichyl-P-Man:Man6GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man8GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase |
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 | 1 | ALG9 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 0 |
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) |
|---|---|---|
| ALG9 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: ALG9