Renal hypodysplasia/aplasia 2

Summary

Renal hypodysplasia/aplasia 2 (MONDO:0014319) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	renal hypodysplasia/aplasia 2
Mondo ID	MONDO:0014319
OMIM	615721
UMLS	C3810359
MedGen	816689
GARD	0024984
Is cancer (heuristic)	no

Also known as: FGF20 renal agenesis (disease) · renal agenesis (disease) caused by mutation in FGF20 · renal hypodysplasia/aplasia 2 · renal hypodysplasia/aplasia type 2 · RHDA2

Data availability: 3 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › renal agenesis › renal hypodysplasia/aplasia 2

Related subtypes (5): bilateral renal agenesis, renal agenesis, unilateral, renal hypodysplasia/aplasia 1, renal hypodysplasia/aplasia 3, renal hypodysplasia/aplasia 4

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

3 retrieved; paginated sample, class counts are floors:

1 benign, 1 pathogenic, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
126502	NM_019851.3(FGF20):c.337del (p.Val113fs)	FGF20	Pathogenic	no assertion criteria provided
802391	NM_019851.3(FGF20):c.391-1G>A	FGF20	Likely pathogenic	criteria provided, single submitter
1246783	NM_019851.3(FGF20):c.144G>C (p.Ala48=)	FGF20	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · 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
FGF20	Moderate	Autosomal recessive	renal hypodysplasia/aplasia 2	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FGF20	Orphanet:1848	Renal agenesis, bilateral

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
FGF20	HGNC:3677	ENSG00000078579	Q9NP95	Fibroblast growth factor 20	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FGF20	Fibroblast growth factor 20	Neurotrophic factor that regulates central nervous development and function.

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)
FGF20	Other/Unknown	no		Fibroblast_GF_fam, IL1/FGF

Expression context

Cohort genes with no expression data: 0.

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
buccal mucosa cell	1
cerebellar cortex	1
cerebellar hemisphere	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FGF20	119	tissue_specific	yes	buccal mucosa cell, cerebellar cortex, cerebellar hemisphere

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FGF20	3,798

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
FGF20	Q9NP95	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 37. 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
FGFR3b ligand binding and activation	1	1631.4×	0.003	FGF20
Signaling by activated point mutants of FGFR1	1	951.7×	0.003	FGF20
Signaling by activated point mutants of FGFR3	1	951.7×	0.003	FGF20
FGFR3c ligand binding and activation	1	878.5×	0.003	FGF20
FGFR2c ligand binding and activation	1	878.5×	0.003	FGF20
Phospholipase C-mediated cascade; FGFR3	1	878.5×	0.003	FGF20
FGFR4 ligand binding and activation	1	815.7×	0.003	FGF20
FGFR1c ligand binding and activation	1	761.3×	0.003	FGF20
Phospholipase C-mediated cascade; FGFR4	1	761.3×	0.003	FGF20
Activated point mutants of FGFR2	1	671.8×	0.003	FGF20
Phospholipase C-mediated cascade: FGFR1	1	671.8×	0.003	FGF20
Phospholipase C-mediated cascade; FGFR2	1	634.4×	0.003	FGF20
PI-3K cascade:FGFR3	1	634.4×	0.003	FGF20
SHC-mediated cascade:FGFR3	1	601.0×	0.003	FGF20
PI-3K cascade:FGFR4	1	571.0×	0.003	FGF20
Downstream signaling of activated FGFR1	1	543.8×	0.003	FGF20
FRS-mediated FGFR3 signaling	1	543.8×	0.003	FGF20
SHC-mediated cascade:FGFR4	1	543.8×	0.003	FGF20
PI-3K cascade:FGFR1	1	519.1×	0.003	FGF20
SHC-mediated cascade:FGFR1	1	496.5×	0.003	FGF20
PI-3K cascade:FGFR2	1	496.5×	0.003	FGF20
FRS-mediated FGFR4 signaling	1	496.5×	0.003	FGF20
Signaling by FGFR3 in disease	1	496.5×	0.003	FGF20
SHC-mediated cascade:FGFR2	1	475.8×	0.003	FGF20
FRS-mediated FGFR1 signaling	1	456.8×	0.003	FGF20
FRS-mediated FGFR2 signaling	1	439.2×	0.003	FGF20
Negative regulation of FGFR3 signaling	1	439.2×	0.003	FGF20
Negative regulation of FGFR4 signaling	1	407.9×	0.003	FGF20
Negative regulation of FGFR1 signaling	1	368.4×	0.003	FGF20
Negative regulation of FGFR2 signaling	1	368.4×	0.003	FGF20

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
positive regulation of dopaminergic neuron differentiation	1	8426.0×	0.002	FGF20
regulation of cardiac muscle cell proliferation	1	3370.4×	0.002	FGF20
regulation of dopamine secretion	1	1203.7×	0.003	FGF20
inner ear auditory receptor cell differentiation	1	1203.7×	0.003	FGF20
fibroblast growth factor receptor signaling pathway	1	285.6×	0.009	FGF20
neurogenesis	1	208.1×	0.010	FGF20
regulation of cell migration	1	157.5×	0.012	FGF20
negative regulation of neuron apoptotic process	1	110.9×	0.015	FGF20
positive regulation of ERK1 and ERK2 cascade	1	85.1×	0.016	FGF20
positive regulation of MAPK cascade	1	80.6×	0.016	FGF20
cell-cell signaling	1	69.6×	0.017	FGF20
positive regulation of cell population proliferation	1	33.6×	0.032	FGF20
signal transduction	1	16.1×	0.062	FGF20

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
FGF20	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	FGF20

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)
FGF20	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.