Ovarian dysgenesis 5

disease

On this page

Also known as ODG5

Summary

Ovarian dysgenesis 5 (MONDO:0054666) is a disease caused by SOHLH1 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: SOHLH1 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ovarian dysgenesis 5
Mondo ID	MONDO:0054666
OMIM	617690
DOID	DOID:0080497
UMLS	C4540141
MedGen	1627972
GARD	0025958
Is cancer (heuristic)	no

Also known as: ODG5 · ovarian dysgenesis 5

Data availability: 7 ClinVar variants · 3 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 5

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

7 retrieved; paginated sample, class counts are floors:

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

ClinVar	Variant (HGVS)	Gene	Classification	Review
218902	NM_001101677.2(SOHLH1):c.27C>G (p.Tyr9Ter)	SOHLH1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
218901	NM_001101677.2(SOHLH1):c.705del (p.Lys236fs)	SOHLH1	Likely pathogenic	criteria provided, single submitter
2429747	NM_001101677.2(SOHLH1):c.397C>T (p.Gln133Ter)	SOHLH1	Likely pathogenic	no assertion criteria provided
560884	NM_001101677.2(SOHLH1):c.346-1G>A	SOHLH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
3382942	NM_001101677.2(SOHLH1):c.760C>T (p.Pro254Ser)	SOHLH1	Uncertain significance	criteria provided, single submitter
3892525	NM_001101677.2(SOHLH1):c.680C>T (p.Pro227Leu)	SOHLH1	Uncertain significance	criteria provided, single submitter
3892524	NM_001101677.2(SOHLH1):c.529C>A (p.Pro177Thr)	SOHLH1	Likely benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · 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
SOHLH1	Strong	Autosomal recessive	ovarian dysgenesis 5	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SOHLH1	Orphanet:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation

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
SOHLH1	HGNC:27845	ENSG00000165643	Q5JUK2	Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SOHLH1	Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1	Transcription regulator of both male and female germline differentiation.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SOHLH1	Transcription factor	no		bHLH_dom, HLH_DNA-bd_sf, TCFL5/SOLH1/2

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
anterior cingulate cortex	1
primordial germ cell in gonad	1
right frontal lobe	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SOHLH1	70	tissue_specific	yes	right frontal lobe, primordial germ cell in gonad, anterior cingulate cortex

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SOHLH1	1,483

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SOHLH1	Q5JUK2	58.62

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
oocyte differentiation	1	4213.0×	7e-04	SOHLH1
spermatogenesis	1	35.2×	0.034	SOHLH1
cell differentiation	1	29.1×	0.034	SOHLH1

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
SOHLH1	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	SOHLH1

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)
SOHLH1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: SOHLH1