Fanconi renotubular syndrome 3
disease diseaseOn this page
Also known as EHHADH Fanconi syndromeFanconi renotubular syndrome type 3Fanconi syndrome caused by mutation in EHHADHFRTS3
Summary
Fanconi renotubular syndrome 3 (MONDO:0014275) is a disease caused by EHHADH (GenCC Strong), with 1 cohort gene and 1 clinical trial.
At a glance
- Causal gene: EHHADH (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 18
- Clinical trials: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Fanconi renotubular syndrome 3 |
| Mondo ID | MONDO:0014275 |
| OMIM | 615605 |
| DOID | DOID:0080759 |
| UMLS | C3810100 |
| MedGen | 816430 |
| GARD | 0015991 |
| Is cancer (heuristic) | no |
Also known as: EHHADH Fanconi syndrome · Fanconi renotubular syndrome 3 · Fanconi renotubular syndrome type 3 · Fanconi syndrome caused by mutation in EHHADH · FRTS3
Data availability: 18 ClinVar variants · 3 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by body system or component › syndromic disease › Fanconi renotubular syndrome › inherited Fanconi renotubular syndrome › primary Fanconi syndrome › Fanconi renotubular syndrome 3
Related subtypes (2): Fanconi renotubular syndrome 2, Fanconi renotubular syndrome 1
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
18 retrieved; paginated sample, class counts are floors:
13 uncertain significance, 3 conflicting classifications of pathogenicity, 1 no classifications from unflagged records, 1 likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 500959 | NM_001966.4(EHHADH):c.302G>A (p.Gly101Glu) | EHHADH | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 595172 | NM_001966.4(EHHADH):c.673C>G (p.Pro225Ala) | EHHADH | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 598561 | NM_001966.4(EHHADH):c.117del (p.Ala39_Val40insTer) | EHHADH | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1331703 | NM_001966.4(EHHADH):c.734A>G (p.Tyr245Cys) | EHHADH | Uncertain significance | criteria provided, single submitter |
| 2431818 | NM_001966.4(EHHADH):c.42C>G (p.Ile14Met) | EHHADH | Uncertain significance | criteria provided, single submitter |
| 2441192 | NM_001966.4(EHHADH):c.2011G>T (p.Gly671Trp) | EHHADH | Uncertain significance | criteria provided, single submitter |
| 2628688 | NM_001966.4(EHHADH):c.126C>A (p.Asp42Glu) | EHHADH | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3044426 | NM_001966.4(EHHADH):c.1651C>T (p.Arg551Ter) | EHHADH | Uncertain significance | criteria provided, single submitter |
| 3064451 | NM_001966.4(EHHADH):c.1984G>A (p.Gly662Arg) | EHHADH | Uncertain significance | criteria provided, single submitter |
| 3589065 | NM_001966.4(EHHADH):c.1015A>T (p.Met339Leu) | EHHADH | Uncertain significance | criteria provided, single submitter |
| 3776154 | NM_001966.4(EHHADH):c.1397T>G (p.Ile466Ser) | EHHADH | Uncertain significance | criteria provided, single submitter |
| 4277529 | NM_001966.4(EHHADH):c.688C>T (p.Gln230Ter) | EHHADH | Uncertain significance | criteria provided, single submitter |
| 4278072 | NM_001966.4(EHHADH):c.1897C>A (p.Arg633Ser) | EHHADH | Uncertain significance | criteria provided, single submitter |
| 4279903 | NM_001966.4(EHHADH):c.1460C>T (p.Pro487Leu) | EHHADH | Uncertain significance | criteria provided, single submitter |
| 4279904 | NM_001966.4(EHHADH):c.1865G>A (p.Arg622His) | EHHADH | Uncertain significance | criteria provided, single submitter |
| 595249 | NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val) | EHHADH | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 96711 | NM_001966.4(EHHADH):c.7G>A (p.Glu3Lys) | EHHADH | no classifications from unflagged records | no classifications from unflagged records |
| 977889 | NM_001966.4(EHHADH):c.1189dup (p.Ser397fs) | EHHADH | Likely benign | no assertion criteria provided |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 4 · 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 |
|---|---|---|---|---|
| EHHADH | Strong | Autosomal dominant | Fanconi renotubular syndrome 3 | 4 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| EHHADH | Orphanet:300 | Bifunctional enzyme deficiency |
| EHHADH | Orphanet:3337 | Primary Fanconi renotubular syndrome |
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 |
|---|---|---|---|---|---|
| EHHADH | HGNC:3247 | ENSG00000113790 | Q08426 | Peroxisomal bifunctional enzyme | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| EHHADH | Peroxisomal bifunctional enzyme | Peroxisomal trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities. |
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) |
|---|---|---|---|---|
| EHHADH | Other/Unknown | no | Enoyl-CoA_hydra/iso, 3HC_DH_C, 3-OHacyl-CoA_DH_NAD-bd |
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 |
|---|---|
| liver | 1 |
| nephron tubule | 1 |
| right lobe of liver | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| EHHADH | 241 | ubiquitous | marker | right lobe of liver, liver, nephron tubule |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| EHHADH | 3,281 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| EHHADH | Q08426 | 95.07 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 2. 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 |
|---|---|---|---|---|
| Beta-oxidation of very long chain fatty acids | 1 | 878.5× | 0.002 | EHHADH |
| Peroxisomal protein import | 1 | 173.0× | 0.006 | EHHADH |
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 |
|---|---|---|---|---|
| fatty acid derivative biosynthetic process | 1 | 1532.0× | 0.002 | EHHADH |
| fatty acid beta-oxidation using acyl-CoA oxidase | 1 | 1123.5× | 0.002 | EHHADH |
| alpha-linolenic acid metabolic process | 1 | 887.0× | 0.002 | EHHADH |
| unsaturated fatty acid biosynthetic process | 1 | 648.1× | 0.002 | EHHADH |
| long-chain fatty acid biosynthetic process | 1 | 443.5× | 0.003 | EHHADH |
| fatty acid beta-oxidation | 1 | 374.5× | 0.003 | EHHADH |
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 |
|---|---|---|
| EHHADH | 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 | EHHADH |
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) |
|---|---|---|
| EHHADH | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06065852 | Not specified | RECRUITING | National Registry of Rare Kidney Diseases |
Related Atlas pages
- Cohort genes: EHHADH