Stromal corneal dystrophy

Summary

Stromal corneal dystrophy (MONDO:0020213) is a disease (an umbrella term covering 10 Mondo subtypes) with 1 cohort gene.

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Umbrella term: 10 Mondo subtypes
• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	stromal corneal dystrophy
Mondo ID	MONDO:0020213
Orphanet	98626
DOID	DOID:0060442
ICD-11	1392780216
SNOMED CT	231931001
UMLS	C0038457
MedGen	20973
GARD	0019519
Anatomy (UBERON)	UBERON:0001777
Is cancer (heuristic)	no

Also known as: corneal dystrophy (disease) of substantia propria of cornea · corneal stromal dystrophy · substantia propria of cornea corneal dystrophy (disease)

Data availability: 1 ClinVar variant · 1 GenCC gene-disease record.

Disease family

An umbrella term covering 10 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › corneal disorder › corneal dystrophy › stromal corneal dystrophy

Related subtypes (12): epithelial and subepithelial corneal dystrophy, epithelial-stromal TGFBI dystrophy, corneal endothelial dystrophy, Finnish type amyloidosis, autosomal dominant keratitis, macular dystrophy, fenestrated sheen type, band keratopathy, superficial corneal dystrophy, posterior corneal dystrophy, Chandler syndrome, Judge Misch wright syndrome, corneal dystrophy, punctiform and polychromatic pre-descemet

Subtypes (10): lattice corneal dystrophy, Schnyder corneal dystrophy, fleck corneal dystrophy, granular corneal dystrophy type I, central cloudy dystrophy of François, macular corneal dystrophy, granular corneal dystrophy type II, congenital stromal corneal dystrophy, posterior amorphous corneal dystrophy, pre-descemet corneal dystrophy

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

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3257740	NM_004684.6(SPARCL1):c.334G>A (p.Glu112Lys)	SPARCL1	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · 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
SPARCL1	Limited	Autosomal dominant	stromal corneal dystrophy	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SPARCL1	Orphanet:101068	Congenital stromal corneal dystrophy

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
SPARCL1	HGNC:11220	ENSG00000152583	Q14515	SPARC-like protein 1	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)
SPARCL1	Other/Unknown	no		Osteonectin_CS, EF_hand_dom, Kazal_dom

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
blood vessel layer	1
middle temporal gyrus	1
postcentral gyrus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SPARCL1	303	broad	marker	middle temporal gyrus, blood vessel layer, postcentral gyrus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SPARCL1	2,354

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SPARCL1	Q14515	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. 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
Post-translational protein phosphorylation	1	100.2×	0.023	SPARCL1
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	1	86.5×	0.023	SPARCL1
Post-translational protein modification	1	19.2×	0.069	SPARCL1
Metabolism of proteins	1	12.4×	0.081	SPARCL1

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
regulation of synapse organization	1	648.1×	0.003	SPARCL1
synaptic membrane adhesion	1	581.1×	0.003	SPARCL1
signal transduction	1	16.1×	0.062	SPARCL1

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
SPARCL1	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	SPARCL1

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)
SPARCL1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.