Cataract 33

disease

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Also known as BFSP1 early-onset non-syndromic cataractcataract type 33CTRCT33early-onset non-syndromic cataract caused by mutation in BFSP1

Summary

Cataract 33 (MONDO:0012665) is a disease caused by BFSP1 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: BFSP1 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 98

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cataract 33
Mondo ID	MONDO:0012665
MeSH	C566955
OMIM	611391
Orphanet	217046, 217052
DOID	DOID:0110264
UMLS	C3808107
MedGen	814437
GARD	0018236
Is cancer (heuristic)	no

Also known as: BFSP1 early-onset non-syndromic cataract · cataract 33 · cataract type 33 · CTRCT33 · early-onset non-syndromic cataract caused by mutation in BFSP1

Data availability: 98 ClinVar variants · 7 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › lens disorder › cataract › early-onset non-syndromic cataract › cataract 33

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

98 retrieved; paginated sample, class counts are floors:

38 uncertain significance, 28 likely benign, 16 benign, 6 benign/likely benign, 5 pathogenic, 4 conflicting classifications of pathogenicity, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2111421	NM_001195.5(BFSP1):c.776_777del (p.Cys259fs)	BFSP1	Pathogenic	criteria provided, single submitter
425558	NM_001195.5(BFSP1):c.1042G>A (p.Asp348Asn)	BFSP1	Pathogenic	no assertion criteria provided
425559	NM_001195.5(BFSP1):c.1042+3A>G	BFSP1	Pathogenic	no assertion criteria provided
6497	NM_001195.5(BFSP1):c.736-1384_957-66del	BFSP1	Pathogenic	no assertion criteria provided
838855	NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter)	BFSP1	Pathogenic	criteria provided, single submitter
1066273	NM_001195.5(BFSP1):c.215T>C (p.Leu72Pro)	BFSP1	Likely pathogenic	criteria provided, single submitter
1134023	NM_001195.5(BFSP1):c.403C>T (p.Leu135Phe)	BFSP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1370723	NM_001195.5(BFSP1):c.526C>T (p.His176Tyr)	BFSP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
257613	NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe)	BFSP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
3991354	NM_001195.5(BFSP1):c.686G>A (p.Arg229Gln)	BFSP1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1009059	NM_001195.5(BFSP1):c.685C>T (p.Arg229Trp)	BFSP1	Uncertain significance	criteria provided, single submitter
1050182	NM_001195.5(BFSP1):c.1679G>A (p.Arg560His)	BFSP1	Uncertain significance	criteria provided, single submitter
1056991	NM_001195.5(BFSP1):c.1468A>G (p.Thr490Ala)	BFSP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1301590	NM_001195.5(BFSP1):c.1438G>T (p.Val480Leu)	BFSP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1373792	NM_001195.5(BFSP1):c.1339A>C (p.Lys447Gln)	BFSP1	Uncertain significance	criteria provided, single submitter
1497022	NM_001195.5(BFSP1):c.1943C>T (p.Thr648Ile)	BFSP1	Uncertain significance	criteria provided, single submitter
2024413	NM_001195.5(BFSP1):c.847C>T (p.Arg283Trp)	BFSP1	Uncertain significance	criteria provided, single submitter
2043102	NM_001195.5(BFSP1):c.452C>G (p.Ala151Gly)	BFSP1	Uncertain significance	criteria provided, single submitter
2128124	NM_001195.5(BFSP1):c.1029A>G (p.Gly343=)	BFSP1	Uncertain significance	criteria provided, single submitter
2158997	NM_001195.5(BFSP1):c.878G>A (p.Arg293Gln)	BFSP1	Uncertain significance	criteria provided, single submitter
2381570	NM_001195.5(BFSP1):c.136G>T (p.Gly46Trp)	BFSP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2393314	NM_001195.5(BFSP1):c.280A>C (p.Ser94Arg)	BFSP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2423954	NC_000020.10:g.(?17462209)(17511974_?)dup	BFSP1	Uncertain significance	criteria provided, single submitter
242475	NM_001195.5(BFSP1):c.812T>C (p.Ile271Thr)	BFSP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2457289	NM_001195.5(BFSP1):c.202C>T (p.Leu68Phe)	BFSP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2699775	NM_001195.5(BFSP1):c.1286_1287insTGGACACAAGA (p.Glu429fs)	BFSP1	Uncertain significance	criteria provided, single submitter
2721088	NM_001195.5(BFSP1):c.55G>A (p.Asp19Asn)	BFSP1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2781433	NM_001195.5(BFSP1):c.1162G>T (p.Asp388Tyr)	BFSP1	Uncertain significance	criteria provided, single submitter
2808257	NM_001195.5(BFSP1):c.1406G>A (p.Arg469Gln)	BFSP1	Uncertain significance	criteria provided, single submitter
2849469	NM_001195.5(BFSP1):c.1876G>A (p.Glu626Lys)	BFSP1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 8 · 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
BFSP1	Strong	Autosomal dominant	cataract 33	8

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
BFSP1	Orphanet:98991	Early-onset nuclear cataract

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
BFSP1	HGNC:1040	ENSG00000125864	Q12934	Filensin	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BFSP1	Filensin	Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA.

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)
BFSP1	Other/Unknown	no		IF_rod_dom, BFSP1

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
male germ line stem cell (sensu Vertebrata) in testis	1
primordial germ cell in gonad	1
tendon of biceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BFSP1	176	broad	yes	tendon of biceps brachii, primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BFSP1	547

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
BFSP1	Q12934	64.66

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
lens fiber cell development	1	2106.5×	0.001	BFSP1
cell maturation	1	443.5×	0.003	BFSP1
intermediate filament organization	1	240.7×	0.004	BFSP1

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
BFSP1	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	BFSP1

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)
BFSP1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: BFSP1