Early onset hypertension
diseaseOn this page
Summary
Early onset hypertension (MONDO:0005430) is a disease with 4 cohort genes (1 GWAS associations across 2 studies).
At a glance
- Cohort genes: 4
- GWAS associations: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | early onset hypertension |
| Mondo ID | MONDO:0005430 |
| EFO | EFO:0004772 |
| Is cancer (heuristic) | no |
Data availability: 1 GWAS association (2 studies).
Disease family
Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › arterial disorder › hypertensive disorder › early onset hypertension
Related subtypes (11): essential hypertension, secondary hypertension, pulmonary hypertension, chemotherapy-induced hypertension, intracranial hypertension, malignant hypertension, ocular hypertension, kallikrein hypertension, hypertension, pregnancy-induced, resistant hypertension, hypertensive urgency
Genetics & variants
GWAS landscape
1 GWAS associations across 2 studies. Top hits map to 0 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs9308945 | 3e-10 | LINC01320; LINC01320; LINC01320; LINC01320 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST002332 | Chiang KM | 2014 | 400 | 0 | A three-stage genome-wide association study combining multilocus test and gene expression analysis for young-onset hypertension in Taiwan Han Chinese. |
| GCST000390 | Yang HC | 2009 | 175 | 0 | Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 1 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant; intron_variant; intron_variant; intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs9308945 | 2;2;2;2 | 34059785 | A>C,G,T | 0.05 | intron_variant; intron_variant; intron_variant; intron_variant | LINC01320; LINC01320; LINC01320; LINC01320 | 3e-10 | Tier 4: intronic/intergenic |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Cohort genes → proteins
4 cohort genes, 2 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| gwas_only | 4 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| RASGRP3 | HGNC:14545 | ENSG00000152689 | Q8IV61 | Ras guanyl-releasing protein 3 | gwas |
| FAM98A | HGNC:24520 | ENSG00000119812 | Q8NCA5 | Protein FAM98A | gwas |
| MYADML | HGNC:31019 | ENSG00000239649 | myeloid associated differentiation marker like (pseudogene) | gwas | |
| SLC25A5P2 | HGNC:35470 | ENSG00000235064 | solute carrier family 25 member 5 pseudogene 2 | gwas |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| RASGRP3 | Ras guanyl-releasing protein 3 | Guanine nucleotide exchange factor (GEF) for Ras and Rap1. |
| FAM98A | Protein FAM98A | Positively stimulates PRMT1-induced protein arginine methylation. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 4 · 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 | 4 | 1.8× | 0.097 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| RASGRP3 | Other/Unknown | no | Ras-like_Gua-exchang_fac_N, RASGEF_cat_dom, EF_hand_dom | |
| FAM98A | Other/Unknown | no | FAM98 | |
| MYADML | Other/Unknown | no | ||
| SLC25A5P2 | Other/Unknown | no |
Expression context
Cohort genes with no expression data: 0.
4 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 1 |
| moderate (6-20) | 1 |
| broad (>20) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| C1 segment of cervical spinal cord | 1 |
| corpus callosum | 1 |
| inferior vagus X ganglion | 1 |
| male germ cell | 1 |
| sperm | 1 |
| tibia | 1 |
| left testis | 1 |
| right testis | 1 |
| testis | 1 |
| cortical plate | 1 |
| ganglionic eminence | 1 |
| stromal cell of endometrium | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| RASGRP3 | 255 | ubiquitous | marker | corpus callosum, inferior vagus X ganglion, C1 segment of cervical spinal cord |
| FAM98A | 297 | ubiquitous | marker | tibia, male germ cell, sperm |
| MYADML | 6 | tissue_specific | marker | left testis, testis, right testis |
| SLC25A5P2 | 5 | marker | ganglionic eminence, cortical plate, stromal cell of endometrium |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| FAM98A | 1,486 |
| RASGRP3 | 1,414 |
| MYADML | 0 |
| SLC25A5P2 | 0 |
Structural data
PDB: 0 · AlphaFold-only: 2 · No structure: 2
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| RASGRP3 | Q8IV61 | 70.51 |
| FAM98A | Q8NCA5 | 68.95 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 4 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 |
|---|---|---|---|---|
| Activation of RAS in B cells | 1 | 2284.0× | 9e-04 | RASGRP3 |
| RAF/MAP kinase cascade | 1 | 61.1× | 0.016 | RASGRP3 |
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 |
|---|---|---|---|---|
| tRNA splicing, via endonucleolytic cleavage and ligation | 1 | 702.2× | 0.006 | FAM98A |
| positive regulation of ruffle assembly | 1 | 495.6× | 0.006 | FAM98A |
| protein methylation | 1 | 468.1× | 0.006 | FAM98A |
| lysosome localization | 1 | 263.3× | 0.009 | FAM98A |
| Ras protein signal transduction | 1 | 102.8× | 0.016 | RASGRP3 |
| small GTPase-mediated signal transduction | 1 | 91.6× | 0.016 | RASGRP3 |
| MAPK cascade | 1 | 76.6× | 0.017 | RASGRP3 |
| positive regulation of gene expression | 1 | 19.4× | 0.057 | FAM98A |
| positive regulation of cell population proliferation | 1 | 16.8× | 0.059 | FAM98A |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 3
Druggability breadth: 1 of 4 evidence-associated genes (25%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| RASGRP3 | 1 | 2 |
| FAM98A | 0 | 0 |
| MYADML | 0 | 0 |
| SLC25A5P2 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| PHORBOL MYRISTATE ACETATE | 2 | RASGRP3 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| RASGRP3 | 20 | Binding:20 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
1 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.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| PHORBOL MYRISTATE ACETATE | 2 | RASGRP3 |
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 | 1 | RASGRP3 |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 3 | FAM98A, MYADML, SLC25A5P2 |
Undrugged target profiles
3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| FAM98A | 0 | — |
| MYADML | 0 | — |
| SLC25A5P2 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.