Optic atrophy 11

disease

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Also known as autosomal recessive isolated optic atrophy caused by mutation in YME1L1OPA11optic atrophy type 11YME1L1 autosomal recessive isolated optic atrophy

Summary

Optic atrophy 11 (MONDO:0015011) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	optic atrophy 11
Mondo ID	MONDO:0015011
OMIM	617302
DOID	DOID:0111436
UMLS	C4310628
MedGen	934595
GARD	0018201
Is cancer (heuristic)	no

Also known as: autosomal recessive isolated optic atrophy caused by mutation in YME1L1 · OPA11 · optic atrophy 11 · optic atrophy type 11 · YME1L1 autosomal recessive isolated optic atrophy

Data availability: 9 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › optic nerve disorder › optic atrophy › primary optic atrophy › hereditary optic atrophy › optic atrophy 11

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

9 retrieved; paginated sample, class counts are floors:

6 benign, 2 uncertain significance, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
374984	NM_014263.4(YME1L1):c.445C>T (p.Arg149Trp)	YME1L1	Pathogenic	no assertion criteria provided
1031258	NM_014263.4(YME1L1):c.2060A>G (p.Lys687Arg)	YME1L1	Uncertain significance	criteria provided, single submitter
1801362	NM_014263.4(YME1L1):c.278C>G (p.Ser93Cys)	YME1L1	Uncertain significance	criteria provided, single submitter
1220690	NM_014263.4(YME1L1):c.1720-36G>C	YME1L1	Benign	criteria provided, multiple submitters, no conflicts
1236887	NM_014263.4(YME1L1):c.39A>G (p.Thr13=)	YME1L1	Benign	criteria provided, multiple submitters, no conflicts
1259033	NM_014263.4(YME1L1):c.*45C>T	YME1L1	Benign	criteria provided, multiple submitters, no conflicts
1276244	NM_014263.4(YME1L1):c.691+16A>G	YME1L1	Benign	criteria provided, multiple submitters, no conflicts
1277257	NM_014263.4(YME1L1):c.2008-7G>A	YME1L1	Benign	criteria provided, multiple submitters, no conflicts
1278570	NM_014263.4(YME1L1):c.541-16T>C	YME1L1	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
YME1L1	Moderate	Autosomal recessive	optic atrophy 11	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
YME1L1	Orphanet:98676	Autosomal recessive isolated optic atrophy

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
YME1L1	HGNC:12843	ENSG00000136758	Q96TA2	ATP-dependent zinc metalloprotease YME1L1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
YME1L1	ATP-dependent zinc metalloprotease YME1L1	ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Protease	1	36.6×	0.027

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
YME1L1	Protease	yes	3.4.24.B18	Peptidase_M41, AAA+_ATPase, ATPase_AAA_core

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
germinal epithelium of ovary	1
parietal pleura	1
tibia	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
YME1L1	295	ubiquitous	marker	germinal epithelium of ovary, tibia, parietal pleura

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
YME1L1	4,274

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
YME1L1	Q96TA2	70.79

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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
Cellular response to mitochondrial stress	1	1142.0×	0.002	YME1L1
Processing of SMDT1	1	634.4×	0.002	YME1L1
Mitochondrial protein degradation	1	114.2×	0.009	YME1L1

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of mitochondrial fusion	1	3370.4×	0.002	YME1L1
mitochondrial protein processing	1	2808.7×	0.002	YME1L1
mitochondrial protein catabolic process	1	1532.0×	0.002	YME1L1
protein hexamerization	1	1404.3×	0.002	YME1L1
regulation of stem cell division	1	1404.3×	0.002	YME1L1
protein quality control for misfolded or incompletely synthesized proteins	1	766.0×	0.002	YME1L1
neuronal stem cell population maintenance	1	674.1×	0.002	YME1L1
cellular response to starvation	1	193.7×	0.007	YME1L1
mitochondrion organization	1	151.8×	0.008	YME1L1
cell population proliferation	1	102.8×	0.011	YME1L1
negative regulation of apoptotic process	1	34.8×	0.029	YME1L1

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
YME1L1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
YME1L1	3.4.24.B18

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	1	YME1L1
E	Difficult family or no structure, no drug	0

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)
YME1L1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: YME1L1