Premature ovarian failure 26

disease

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Summary

Premature ovarian failure 26 (MONDO:0976129) is a disease with 2 cohort genes.

At a glance

Cohort genes: 2
ClinVar variants: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	premature ovarian failure 26
Mondo ID	MONDO:0976129
OMIM	621065
UMLS	C5975591
MedGen	1875121
GARD	0027426
Is cancer (heuristic)	no

Data availability: 3 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inherited primary ovarian failure › premature ovarian failure 26

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:

3 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3573022	NM_001400225.1(MGA):c.2709_2712del (p.Ala905fs)	MGA	Pathogenic	no assertion criteria provided
3573023	NM_001400225.1(MGA):c.2728C>T (p.Arg910Ter)	MGA	Pathogenic	no assertion criteria provided
3573024	NM_001400225.1(MGA):c.1673del (p.Asp558fs)	MGA	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MGA	HGNC:14010	ENSG00000174197	Q8IWI9	MAX gene-associated protein	clinvar
MGAM	HGNC:7043	ENSG00000257335	O43451	Maltase-glucoamylase	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MGA	MAX gene-associated protein	Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes.
MGAM	Maltase-glucoamylase	Alpha-(1,4) exo-glucosidase involved in breakdown of dietary starch oligosaccharides in small intestine.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.5

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
Enzyme (other)	1	6.0×	0.228
Transcription factor	1	4.1×	0.228

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MGA	Transcription factor	no		TF_T-box, p53-like_TF_DNA-bd_sf, bHLH_dom
MGAM	Enzyme (other)	yes	3.2.1.20	Glyco_hydro_31_TIM, P_trefoil_dom, Gal_mutarotase_sf_dom

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
calcaneal tendon	1
oocyte	1
tendon	1
blood	1
bone marrow cell	1
duodenum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MGA	279	ubiquitous	marker	calcaneal tendon, oocyte, tendon
MGAM	128	tissue_specific	marker	duodenum, blood, bone marrow cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MGAM	2,687
MGA	1,705

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MGAM	O43451	12

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MGA	Q8IWI9

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 10. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Digestion of dietary carbohydrate	1	475.8×	0.012	MGAM
Digestion and absorption	1	380.7×	0.012	MGAM
Digestion	1	285.5×	0.012	MGAM
Transcriptional Regulation by E2F6	1	146.4×	0.017	MGA
Innate Immune System	1	12.8×	0.124	MGAM
Neutrophil degranulation	1	11.5×	0.124	MGAM
RNA Polymerase II Transcription	1	11.3×	0.124	MGA
Gene expression (Transcription)	1	8.9×	0.136	MGA
Generic Transcription Pathway	1	7.5×	0.142	MGA
Immune System	1	6.5×	0.148	MGAM

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
maltose catabolic process	1	4213.0×	5e-04	MGAM
starch catabolic process	1	4213.0×	5e-04	MGAM
dextrin catabolic process	1	4213.0×	5e-04	MGAM
cell fate specification	1	263.3×	0.006	MGA
positive regulation of DNA-templated transcription	1	14.0×	0.084	MGA
regulation of transcription by RNA polymerase II	1	5.8×	0.164	MGA

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
MGAM	MIGLUSTAT

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MGAM	10	4
MGA	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MIGLUSTAT	4	MGAM
MIGALASTAT	4	MGAM
MIGLITOL	4	MGAM
ACARBOSE	4	MGAM
VOGLIBOSE	4	MGAM
LUCERASTAT	3	MGAM
QUERCETIN	3	MGAM
THIAZOLIDINEDIONE	3	MGAM
DUVOGLUSTAT	2	MGAM
GENISTEIN	2	MGAM

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
MGAM	253	Binding:253

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
MGAM	3.2.1.20, 3.2.1.3	alpha-glucosidase, glucan 1,4-alpha-glucosidase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
MGAM	253

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

10 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)
MIGLUSTAT	4	MGAM
MIGALASTAT	4	MGAM
MIGLITOL	4	MGAM
ACARBOSE	4	MGAM
VOGLIBOSE	4	MGAM
LUCERASTAT	3	MGAM
QUERCETIN	3	MGAM
THIAZOLIDINEDIONE	3	MGAM
DUVOGLUSTAT	2	MGAM
GENISTEIN	2	MGAM

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	MGAM
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	MGA

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)
MGA	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: MGA, MGAM