Cataract 39 multiple types

Summary

Cataract 39 multiple types (MONDO:0014075) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 31

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cataract 39 multiple types
Mondo ID	MONDO:0014075
OMIM	615188
DOID	DOID:0110236
UMLS	C3808800
MedGen	815130
GARD	0024969
Is cancer (heuristic)	no

Also known as: cataract 39, multiple types · cataract 39, multiple types, autosomal dominant · CRYGB early-onset non-syndromic cataract · CTRCT39 · early-onset non-syndromic cataract caused by mutation in CRYGB

Data availability: 31 ClinVar variants · 2 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 39 multiple types

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, pulverulent cataract, 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 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

ClinVar germline variants

31 retrieved; paginated sample, class counts are floors:

17 uncertain significance, 7 benign, 5 likely benign, 1 pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
41987	NM_005210.4(CRYGB):c.72del (p.Asn25fs)	CRYGB	Pathogenic	no assertion criteria provided
800166	NM_005210.4(CRYGB):c.137A>G (p.Tyr46Cys)	CRYGB	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1370446	NM_005210.4(CRYGB):c.478G>C (p.Ala160Pro)	CRYGB	Uncertain significance	criteria provided, multiple submitters, no conflicts
1413387	NM_005210.4(CRYGB):c.251C>T (p.Pro84Leu)	CRYGB	Uncertain significance	criteria provided, multiple submitters, no conflicts
1507890	NM_005210.4(CRYGB):c.428G>A (p.Arg143Lys)	CRYGB	Uncertain significance	criteria provided, single submitter
2592341	NM_005210.4(CRYGB):c.47G>A (p.Ser16Asn)	CRYGB	Uncertain significance	criteria provided, multiple submitters, no conflicts
2730356	NM_005210.4(CRYGB):c.220G>A (p.Asp74Asn)	CRYGB	Uncertain significance	criteria provided, single submitter
2906200	NM_005210.4(CRYGB):c.302G>T (p.Gly101Val)	CRYGB	Uncertain significance	criteria provided, single submitter
3497456	NM_005210.4(CRYGB):c.283G>A (p.Asp95Asn)	CRYGB	Uncertain significance	criteria provided, multiple submitters, no conflicts
3641487	NM_005210.4(CRYGB):c.232T>C (p.Ser78Pro)	CRYGB	Uncertain significance	criteria provided, single submitter
4234708	NM_005210.4(CRYGB):c.347G>A (p.Arg116His)	CRYGB	Uncertain significance	criteria provided, multiple submitters, no conflicts
4699926	NM_005210.4(CRYGB):c.435T>G (p.Tyr145Ter)	CRYGB	Uncertain significance	criteria provided, single submitter
4703247	NM_005210.4(CRYGB):c.277A>G (p.Ile93Val)	CRYGB	Uncertain significance	criteria provided, single submitter
474171	NM_005210.4(CRYGB):c.244A>G (p.Ile82Val)	CRYGB	Uncertain significance	criteria provided, multiple submitters, no conflicts
4754521	NM_005210.4(CRYGB):c.209dup (p.Met70fs)	CRYGB	Uncertain significance	criteria provided, single submitter
4808008	NM_005210.4(CRYGB):c.252G>A (p.Pro84=)	CRYGB	Uncertain significance	criteria provided, single submitter
572782	NM_005210.4(CRYGB):c.44G>A (p.Arg15His)	CRYGB	Uncertain significance	criteria provided, single submitter
2914911	NM_005210.4(CRYGB):c.83C>G (p.Pro28Arg)	LOC100507443	Uncertain significance	criteria provided, multiple submitters, no conflicts
4770126	NM_005210.4(CRYGB):c.32C>T (p.Ala11Val)	LOC100507443	Uncertain significance	criteria provided, single submitter
1170763	NC_000002.12:g.208146167G>A	CRYGB	Benign	criteria provided, multiple submitters, no conflicts
1589746	NM_005210.4(CRYGB):c.9+11_9+13delinsAAA	CRYGB	Likely benign	criteria provided, single submitter
2726889	NM_005210.4(CRYGB):c.21C>T (p.Tyr7=)	CRYGB	Likely benign	criteria provided, single submitter
2995995	NM_005210.4(CRYGB):c.179G>A (p.Arg60His)	CRYGB	Likely benign	criteria provided, single submitter
41988	NM_005210.4(CRYGB):c.10-38del	CRYGB	Benign	criteria provided, multiple submitters, no conflicts
4705141	NM_005210.4(CRYGB):c.447G>A (p.Pro149=)	CRYGB	Likely benign	criteria provided, single submitter
4738999	NM_005210.4(CRYGB):c.510A>G (p.Arg170=)	CRYGB	Likely benign	criteria provided, single submitter
474170	NM_005210.4(CRYGB):c.175C>T (p.Arg59Trp)	CRYGB	Benign	criteria provided, multiple submitters, no conflicts
474172	NM_005210.4(CRYGB):c.312A>G (p.Ser104=)	CRYGB	Benign	criteria provided, single submitter
677165	NM_005210.4(CRYGB):c.192T>C (p.Pro64=)	CRYGB	Benign	criteria provided, multiple submitters, no conflicts
677166	NM_005210.4(CRYGB):c.331A>C (p.Ile111Leu)	CRYGB	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 3 · 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
CRYGB	Supportive	Autosomal dominant	early-onset lamellar cataract	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CRYGB	Orphanet:441452	Early-onset lamellar cataract
CRYGB	Orphanet:98988	Early-onset anterior polar cataract
CRYGB	Orphanet:98994	Total early-onset 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
CRYGB	HGNC:2409	ENSG00000182187	P07316	Gamma-crystallin B	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CRYGB	Gamma-crystallin B	Crystallins are the dominant structural components of the vertebrate eye lens.

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)
CRYGB	Other/Unknown	no		Beta/gamma_crystallin, G_crystallin-like, Beta/Gamma-Crystallin

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
skeletal muscle tissue of rectus abdominis	1
sperm	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CRYGB	35	tissue_specific	yes	male germ line stem cell (sensu Vertebrata) in testis, sperm, skeletal muscle tissue of rectus abdominis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CRYGB	435

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CRYGB	P07316	2

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 morphogenesis	1	2106.5×	0.001	CRYGB
lens development in camera-type eye	1	374.5×	0.004	CRYGB
visual perception	1	79.5×	0.013	CRYGB

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
CRYGB	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	CRYGB

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)
CRYGB	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.