Pulverulent cataract

Summary

Pulverulent cataract (MONDO:0011430) is a disease with 9 cohort genes.

At a glance

• Cohort genes: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	pulverulent cataract
Mondo ID	MONDO:0011430
MeSH	C565133
Orphanet	98984, 98986
ICD-11	1046743385
UMLS	C1833118
MedGen	318793
GARD	0016884
Is cancer (heuristic)	no

Also known as: Coppock-like cataract · dusty cataract · pulverulent cataract

Data availability: 9 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 › pulverulent cataract

Related subtypes (28): cataract 32 multiple types, cataract 8 multiple types, cataract 42, cataract 20 multiple types, cataract 6 multiple types, cataract 13 with adult I phenotype, cataract 5 multiple types, cataract 46 juvenile-onset, cataract 40, cataract 10 multiple types, cataract 14 multiple types, cataract 31 multiple types, cataract 26 multiple types, cataract 22 multiple types, cataract 21 multiple types, cataract 23, cataract 11 multiple types, cataract 33, cataract 17 multiple types, cataract 38, cataract 39 multiple types, cataract 15 multiple types, cataract 19 multiple types, cataract 43, cataract 44, cataract 45, early-onset partial cataract, total early-onset cataract

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 73 · Orphanet: 38 · 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
BFSP2	Definitive	Autosomal dominant	cataract 12 multiple types	9
CRYBB1	Definitive	Autosomal dominant	cataract 17 multiple types	8
CRYBB2	Definitive	Autosomal dominant	cataract 3 multiple types	11
CRYGC	Definitive	Autosomal dominant	cataract 2, multiple types	7
CRYGD	Definitive	Autosomal dominant	cataract 4 multiple types	9
GJA3	Definitive	Autosomal dominant	cataract 14 multiple types	6
GJA8	Definitive	Autosomal dominant	cataract 1 multiple types	9
MAF	Definitive	Autosomal dominant	cataract 21 multiple types	10
VIM	Definitive	Autosomal dominant	cataract	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
BFSP2	Orphanet:441452	Early-onset lamellar cataract
BFSP2	Orphanet:98984	Pulverulent cataract
BFSP2	Orphanet:98985	Early-onset sutural cataract
VIM	Orphanet:675396	Epithelioid hemangioma
VIM	Orphanet:98984	Pulverulent cataract
CRYBB1	Orphanet:1377	Cataract-microcornea syndrome
CRYBB1	Orphanet:98984	Pulverulent cataract
CRYBB1	Orphanet:98991	Early-onset nuclear cataract
CRYBB2	Orphanet:1377	Cataract-microcornea syndrome
CRYBB2	Orphanet:441447	Early-onset posterior subcapsular cataract
CRYBB2	Orphanet:98984	Pulverulent cataract
CRYBB2	Orphanet:98985	Early-onset sutural cataract
CRYBB2	Orphanet:98989	Cerulean cataract
CRYBB2	Orphanet:98991	Early-onset nuclear cataract
CRYBB2	Orphanet:98994	Total early-onset cataract
CRYGC	Orphanet:1377	Cataract-microcornea syndrome
CRYGC	Orphanet:441452	Early-onset lamellar cataract
CRYGC	Orphanet:98984	Pulverulent cataract
CRYGC	Orphanet:98991	Early-onset nuclear cataract
CRYGD	Orphanet:1377	Cataract-microcornea syndrome
CRYGD	Orphanet:441452	Early-onset lamellar cataract
CRYGD	Orphanet:98984	Pulverulent cataract
CRYGD	Orphanet:98989	Cerulean cataract
CRYGD	Orphanet:98990	Coralliform cataract
CRYGD	Orphanet:98991	Early-onset nuclear cataract
GJA3	Orphanet:98984	Pulverulent cataract
GJA3	Orphanet:98991	Early-onset nuclear cataract
GJA3	Orphanet:98993	Early-onset posterior polar cataract
GJA8	Orphanet:1377	Cataract-microcornea syndrome
GJA8	Orphanet:91490	Isolated congenital sclerocornea
GJA8	Orphanet:98984	Pulverulent cataract
GJA8	Orphanet:98985	Early-onset sutural cataract
GJA8	Orphanet:98991	Early-onset nuclear cataract
GJA8	Orphanet:98994	Total early-onset cataract
MAF	Orphanet:1272	Aymé-Gripp syndrome
MAF	Orphanet:1377	Cataract-microcornea syndrome
MAF	Orphanet:98984	Pulverulent cataract
MAF	Orphanet:98989	Cerulean cataract

Cohort genes → proteins

9 cohort genes, 9 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	9

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
BFSP2	HGNC:1041	ENSG00000170819	Q13515	Phakinin	gencc
VIM	HGNC:12692	ENSG00000026025	P08670	Vimentin	gencc
CRYBB1	HGNC:2397	ENSG00000100122	P53674	Beta-crystallin B1	gencc
CRYBB2	HGNC:2398	ENSG00000244752	P43320	Beta-crystallin B2	gencc
CRYGC	HGNC:2410	ENSG00000163254	P07315	Gamma-crystallin C	gencc
CRYGD	HGNC:2411	ENSG00000118231	P07320	Gamma-crystallin D	gencc
GJA3	HGNC:4277	ENSG00000121743	Q9Y6H8	Gap junction alpha-3 protein	gencc
GJA8	HGNC:4281	ENSG00000121634	P48165	Gap junction alpha-8 protein	gencc
MAF	HGNC:6776	ENSG00000178573	O75444	Transcription factor Maf	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BFSP2	Phakinin	Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA.
VIM	Vimentin	Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells.
CRYBB1	Beta-crystallin B1	Crystallins are the dominant structural components of the vertebrate eye lens.
CRYBB2	Beta-crystallin B2	Crystallins are the dominant structural components of the vertebrate eye lens.
CRYGC	Gamma-crystallin C	Crystallins are the dominant structural components of the vertebrate eye lens.
CRYGD	Gamma-crystallin D	Crystallins are the dominant structural components of the vertebrate eye lens.
GJA3	Gap junction alpha-3 protein	Structural component of lens fiber gap junctions.
GJA8	Gap junction alpha-8 protein	Structural component of eye lens gap junctions.
MAF	Transcription factor Maf	Acts as a transcriptional activator or repressor.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 8 · 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	8	1.6×	0.085
Transcription factor	1	0.9×	0.687

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
BFSP2	Other/Unknown	no		Keratin_I, IF_rod_dom
VIM	Other/Unknown	no		Intermed_filament_DNA-bd, IF_conserved, IF_rod_dom
CRYBB1	Other/Unknown	no		Beta/gamma_crystallin, G_crystallin-like, Beta/Gamma-Crystallin
CRYBB2	Other/Unknown	no		Beta/gamma_crystallin, G_crystallin-like, Beta/Gamma-Crystallin
CRYGC	Other/Unknown	no		Beta/gamma_crystallin, G_crystallin-like, Beta/Gamma-Crystallin
CRYGD	Other/Unknown	no		Beta/gamma_crystallin, G_crystallin-like, Beta/Gamma-Crystallin
GJA3	Other/Unknown	no		Connexin, Connexin46, Connexin_N
GJA8	Other/Unknown	no		Connexin, Connexin50_C, Connexin_N
MAF	Transcription factor	no		bZIP_Maf, bZIP, TF_DNA-bd_sf

Expression context

Cohort genes with no expression data: 0.

3 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)	2
broad (>20)	7
unknown	0

Top tissues across cohort

Tissue	Cohort genes
primordial germ cell in gonad	4
male germ line stem cell (sensu Vertebrata) in testis	3
ventricular zone	2
lens of camera-type eye	1
descending thoracic aorta	1
right coronary artery	1
Brodmann (1909) area 10	1
prefrontal cortex	1
gluteal muscle	1
trabecular bone tissue	1
triceps brachii	1
testis	1
heart right ventricle	1
left ventricle myocardium	1
myocardium	1
buccal mucosa cell	1
frontal pole	1
paraflocculus	1
germinal epithelium of ovary	1
gingiva	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BFSP2	111	tissue_specific	yes	lens of camera-type eye, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad
VIM	307	ubiquitous	marker	ventricular zone, descending thoracic aorta, right coronary artery
CRYBB1	154	broad	yes	primordial germ cell in gonad, prefrontal cortex, Brodmann (1909) area 10
CRYBB2	144	tissue_specific	yes	triceps brachii, gluteal muscle, trabecular bone tissue
CRYGC	15	tissue_specific	yes	male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, testis
CRYGD	60	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, ventricular zone
GJA3	75	broad	yes	left ventricle myocardium, heart right ventricle, myocardium
GJA8	17	tissue_specific	yes	buccal mucosa cell, frontal pole, paraflocculus
MAF	290	ubiquitous	marker	jejunal mucosa, germinal epithelium of ovary, gingiva

Protein interactions among cohort

Intra-cohort edges: 19.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
VIM	6,814
MAF	4,111
CRYGC	2,111
CRYBB1	1,508
BFSP2	1,203
GJA8	1,149
CRYBB2	548
CRYGD	500
GJA3	449

Intra-cohort edges

A	B	Sources
BFSP2	CRYBB1	string_interaction
BFSP2	CRYBB2	string_interaction
BFSP2	CRYGC	string_interaction
BFSP2	CRYGD	string_interaction
BFSP2	GJA3	string_interaction
BFSP2	GJA8	string_interaction
CRYBB1	GJA3	string_interaction
CRYBB1	GJA8	string_interaction
CRYBB2	CRYGC	biogrid_interaction, intact
CRYBB2	GJA3	string_interaction
CRYBB2	GJA8	string_interaction
CRYBB2	MAF	string_interaction
CRYGC	CRYGD	biogrid_interaction
CRYGC	GJA3	string_interaction
CRYGC	GJA8	string_interaction
CRYGD	GJA3	string_interaction
CRYGD	GJA8	string_interaction
CRYGD	MAF	string_interaction
GJA3	GJA8	string_interaction

Structural data

PDB: 5 · AlphaFold-only: 4 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
VIM	P08670	26
CRYGD	P07320	16
CRYBB2	P43320	3
CRYBB1	P53674	1
CRYGC	P07315	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
BFSP2	Q13515	78.15
GJA3	Q9Y6H8	69.53
GJA8	P48165	65.85
MAF	O75444	62.21

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 18. Enrichment computed across 9 evidence-associated genes (4 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 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Gap junction assembly	2	146.4×	0.001	GJA3, GJA8
Caspase-mediated cleavage of cytoskeletal proteins	1	237.9×	0.022	VIM
RUNX2 regulates bone development	1	203.9×	0.022	MAF
Developmental Lineage of Mammary Gland Myoepithelial Cells	1	135.9×	0.022	VIM
Chaperone Mediated Autophagy	1	124.1×	0.022	VIM
RHOBTB1 GTPase cycle	1	119.0×	0.022	VIM
RUNX2 regulates osteoblast differentiation	1	114.2×	0.022	MAF
Late endosomal microautophagy	1	81.6×	0.023	VIM
Dengue Virus Genome Translation and Replication	1	79.3×	0.023	VIM
Striated Muscle Contraction	1	77.2×	0.023	VIM
Transcriptional regulation by RUNX2	1	63.4×	0.024	MAF
Aggrephagy	1	62.1×	0.024	VIM
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	1	36.6×	0.037	MAF
Interleukin-4 and Interleukin-13 signaling	1	25.7×	0.049	VIM
Dengue Virus-Host Interactions	1	11.4×	0.102	VIM
RNA Polymerase II Transcription	1	5.6×	0.187	MAF
Gene expression (Transcription)	1	4.5×	0.218	MAF
Generic Transcription Pathway	1	3.8×	0.240	MAF

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 9 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
lens development in camera-type eye	5	208.1×	4e-10	CRYBB1, CRYBB2, CRYGC, CRYGD, GJA8
visual perception	6	53.0×	4e-09	BFSP2, CRYBB1, CRYBB2, CRYGC, CRYGD, GJA3
gap junction-mediated intercellular transport	2	624.1×	4e-05	GJA3, GJA8
lens fiber cell development	2	468.1×	5e-05	BFSP2, VIM
lens fiber cell differentiation	2	234.1×	2e-04	CRYGD, MAF
intermediate filament organization	2	53.5×	0.003	BFSP2, VIM
cellular response to muramyl dipeptide	1	187.2×	0.019	VIM
Bergmann glial cell differentiation	1	170.2×	0.019	VIM
regulation of chondrocyte differentiation	1	156.0×	0.019	MAF
megakaryocyte differentiation	1	133.8×	0.019	MAF
astrocyte development	1	124.8×	0.019	VIM
cell-cell signaling	2	15.5×	0.019	GJA3, GJA8
integrated stress response signaling	1	78.0×	0.027	MAF
positive regulation of collagen biosynthetic process	1	72.0×	0.028	VIM
cell maturation	1	49.3×	0.034	BFSP2
regulation of mRNA stability	1	46.8×	0.034	VIM
cellular response to reactive oxygen species	1	45.7×	0.034	CRYGD
positive regulation of gene expression	2	8.6×	0.034	VIM, MAF
inner ear development	1	41.6×	0.035	MAF
response to nutrient	1	32.9×	0.042	MAF
negative regulation of neuron projection development	1	26.4×	0.050	VIM
cellular response to type II interferon	1	23.1×	0.054	VIM
neuron projection development	1	13.6×	0.087	VIM
cellular response to lipopolysaccharide	1	10.9×	0.103	VIM
in utero embryonic development	1	8.0×	0.130	MAF
transcription by RNA polymerase II	1	7.8×	0.130	MAF
negative regulation of transcription by RNA polymerase II	1	2.0×	0.422	MAF
regulation of transcription by RNA polymerase II	1	1.3×	0.554	MAF

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 9

Druggability breadth: 4 of 9 evidence-associated genes (44%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
BFSP2	0	0
VIM	0	0
CRYBB1	0	0
CRYBB2	0	0
CRYGC	0	0
CRYGD	0	0
GJA3	0	0
GJA8	0	0
MAF	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
VIM	18	Binding:18
CRYBB2	9	Binding:9
CRYGC	9	Binding:9
CRYGD	9	Binding:9

Pharmacogenomics

Cohort genes with a PharmGKB record: 9; 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	9	BFSP2, VIM, CRYBB1, CRYBB2, CRYGC, CRYGD, GJA3, GJA8, MAF

Undrugged target profiles

9 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
BFSP2	0	—
VIM	18	—
CRYBB1	0	—
CRYBB2	9	—
CRYGC	9	—
CRYGD	9	—
GJA3	0	—
GJA8	0	—
MAF	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.