Age related macular degeneration 7
disease diseaseOn this page
Also known as age related macular degeneration type 7age-related macular degeneration caused by mutation in HTRA1ARMD7HTRA1 age-related macular degenerationmacular degeneration, age-related, 7macular degeneration, age-related, neovascular typemacular Degeneration, age-related, type 7
Summary
Age related macular degeneration 7 (MONDO:0012419) is a disease with 2 cohort genes.
At a glance
- Cohort genes: 2
- ClinVar variants: 5
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | age related macular degeneration 7 |
| Mondo ID | MONDO:0012419 |
| MeSH | C565718 |
| OMIM | 610149 |
| DOID | DOID:0110019 |
| UMLS | C1857813 |
| MedGen | 347554 |
| GARD | 0024864 |
| Is cancer (heuristic) | no |
Also known as: age related macular degeneration type 7 · age-related macular degeneration caused by mutation in HTRA1 · ARMD7 · HTRA1 age-related macular degeneration · macular degeneration, age-related, 7 · macular degeneration, age-related, neovascular type · macular Degeneration, age-related, type 7
Data availability: 5 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › macular degeneration › degeneration of macula and posterior pole › age-related macular degeneration › age related macular degeneration 7
Related subtypes (14): wet macular degeneration, age related macular degeneration 2, age related macular degeneration 1, macular degeneration, age-related, 3, age related macular degeneration 4, age related macular degeneration 9, age related macular degeneration 10, age related macular degeneration 11, age related macular degeneration 6, age related macular degeneration 8, age related macular degeneration 12, age related macular degeneration 14, macular dystrophy with central cone involvement, dry age related macular degeneration
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
5 retrieved; paginated sample, class counts are floors:
1 uncertain significance, 1 conflicting classifications of pathogenicity, 1 pathogenic/likely pathogenic, 1 association, 1 risk factor
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1948614 | NM_002775.5(HTRA1):c.972+1G>A | HTRA1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 7486 | NC_000010.11:g.122461028G>A | HTRA1 | risk factor | no assertion criteria provided |
| 1704529 | NM_002775.5(HTRA1):c.958G>A (p.Asp320Asn) | HTRA1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2627016 | NM_001922.5(DCT):c.1180-122A>G | DCT | association | no assertion criteria provided |
| 1501480 | NM_002775.5(HTRA1):c.820C>T (p.Arg274Trp) | HTRA1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| DCT | Orphanet:597733 | Oculocutaneous albinism type 8 |
| HTRA1 | Orphanet:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy |
| HTRA1 | Orphanet:252128 | Malignant peripheral nerve sheath tumor with perineurial differentiation |
| HTRA1 | Orphanet:252212 | Malignant triton tumor |
| HTRA1 | Orphanet:482077 | HTRA1-related autosomal dominant cerebral small vessel disease |
Cohort genes → proteins
2 cohort genes, 2 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| DCT | HGNC:2709 | ENSG00000080166 | P40126 | L-dopachrome tautomerase | clinvar |
| HTRA1 | HGNC:9476 | ENSG00000166033 | Q92743 | Serine protease HTRA1 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| DCT | L-dopachrome tautomerase | Plays a role in melanin biosynthesis. |
| HTRA1 | Serine protease HTRA1 | Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5
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 |
|---|---|---|---|
| Protease | 1 | 18.3× | 0.108 |
| Other/Unknown | 1 | 0.9× | 0.805 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| DCT | Other/Unknown | no | Tyrosinase_Cu-bd, Di-copper_centre_dom_sf, Tyrosinase/Hemocyanin | |
| HTRA1 | Protease | yes | 3.4.21.107 | IGFBP-like, PDZ, Peptidase_S1C |
Expression context
Cohort genes with no expression data: 0.
2 cohort genes 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) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| secondary oocyte | 1 |
| upper arm skin | 1 |
| upper leg skin | 1 |
| metanephric glomerulus | 1 |
| renal glomerulus | 1 |
| tendon of biceps brachii | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| DCT | 184 | broad | marker | upper leg skin, upper arm skin, secondary oocyte |
| HTRA1 | 287 | ubiquitous | marker | tendon of biceps brachii, renal glomerulus, metanephric glomerulus |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| HTRA1 | 2,843 |
| DCT | 1,692 |
Structural data
PDB: 2 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| HTRA1 | Q92743 | 18 |
| DCT | P40126 | 1 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Melanin biosynthesis | 1 | 1142.0× | 0.003 | DCT |
| Regulation of MITF-M-dependent genes involved in pigmentation | 1 | 132.8× | 0.011 | DCT |
| Degradation of the extracellular matrix | 1 | 58.9× | 0.017 | HTRA1 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| melanin biosynthetic process from tyrosine | 1 | 2106.5× | 0.002 | DCT |
| ventricular zone neuroblast division | 1 | 2106.5× | 0.002 | DCT |
| response to blue light | 1 | 1685.2× | 0.002 | DCT |
| chorionic trophoblast cell differentiation | 1 | 1404.3× | 0.002 | HTRA1 |
| developmental pigmentation | 1 | 1053.2× | 0.003 | DCT |
| programmed cell death | 1 | 648.1× | 0.004 | HTRA1 |
| cell development | 1 | 443.5× | 0.005 | DCT |
| positive regulation of neuroblast proliferation | 1 | 290.6× | 0.006 | DCT |
| placenta development | 1 | 221.7× | 0.007 | HTRA1 |
| negative regulation of BMP signaling pathway | 1 | 145.3× | 0.010 | HTRA1 |
| epidermis development | 1 | 105.3× | 0.012 | DCT |
| negative regulation of transforming growth factor beta receptor signaling pathway | 1 | 86.9× | 0.013 | HTRA1 |
| positive regulation of apoptotic process | 1 | 28.4× | 0.038 | HTRA1 |
| proteolysis | 1 | 17.1× | 0.058 | HTRA1 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2
Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| DCT | 0 | 0 |
| HTRA1 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| HTRA1 | 28 | Binding:28 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| HTRA1 | 3.4.21.107, 3.4.21.108 | peptidase Do, HtrA2 peptidase |
Pharmacogenomics
Cohort genes with a PharmGKB record: 2; 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 | HTRA1 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | DCT |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| DCT | 0 | — |
| HTRA1 | 28 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.