Ovarian dysgenesis 7

disease

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Also known as ODG7

Summary

Ovarian dysgenesis 7 (MONDO:0020857) is a disease caused by MRPS22 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: MRPS22 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ovarian dysgenesis 7
Mondo ID	MONDO:0020857
OMIM	618117
DOID	DOID:0080499
UMLS	C4748263
MedGen	1648458
GARD	0018043
Is cancer (heuristic)	no

Also known as: ODG7 · OVARIAN DYSGENESIS 7

Data availability: 6 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › gonadal disorder › hypogonadism › gonadal dysgenesis › 46 XX gonadal dysgenesis › ovarian dysgenesis 7

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

6 retrieved; paginated sample, class counts are floors:

3 uncertain significance, 2 conflicting classifications of pathogenicity, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4753	NM_020191.4(MRPS22):c.509G>A (p.Arg170His)	MRPS22	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
441255	NM_020191.4(MRPS22):c.605G>A (p.Arg202His)	MRPS22	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
496583	NM_020191.4(MRPS22):c.404G>A (p.Arg135Gln)	MRPS22	Conflicting classifications of pathogenicity	no assertion criteria provided
1029742	NM_020191.4(MRPS22):c.16A>G (p.Thr6Ala)	MRPS22	Uncertain significance	criteria provided, single submitter
1477449	NM_020191.4(MRPS22):c.758T>C (p.Ile253Thr)	MRPS22	Uncertain significance	criteria provided, multiple submitters, no conflicts
3891717	NM_020191.4(MRPS22):c.305C>A (p.Thr102Asn)	MRPS22	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · 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
MRPS22	Strong	Autosomal recessive	ovarian dysgenesis 7	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MRPS22	Orphanet:137908	Hypotonia with lactic acidemia and hyperammonemia
MRPS22	Orphanet:243	46,XX gonadal dysgenesis

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
MRPS22	HGNC:14508	ENSG00000175110	P82650	Small ribosomal subunit protein mS22	gencc,clinvar

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)
MRPS22	Other/Unknown	no		Ribosomal_mS22

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
adrenal tissue	1
right adrenal gland	1
right adrenal gland cortex	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MRPS22	289	ubiquitous	marker	adrenal tissue, right adrenal gland, right adrenal gland cortex

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MRPS22	2,985

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MRPS22	P82650	77

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 7. 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
Mitochondrial translation	1	137.6×	0.013	MRPS22
Mitochondrial translation initiation	1	126.9×	0.013	MRPS22
Mitochondrial translation elongation	1	126.9×	0.013	MRPS22
Mitochondrial ribosome-associated quality control	1	122.8×	0.013	MRPS22
Mitochondrial translation termination	1	109.8×	0.013	MRPS22
Translation	1	62.1×	0.019	MRPS22
Metabolism of proteins	1	12.4×	0.081	MRPS22

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
mitochondrial translation	1	173.7×	0.006	MRPS22

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MRPS22	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
MRPS22	1	Binding:1

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	MRPS22

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)
MRPS22	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: MRPS22