Cataract 36

Summary

Cataract 36 (MONDO:0013484) is a disease caused by TDRD7 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: TDRD7 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 129

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cataract 36
Mondo ID	MONDO:0013484
OMIM	613887
DOID	DOID:0110247
UMLS	C3151304
MedGen	462654
Is cancer (heuristic)	no

Also known as: cataract (disease) caused by mutation in TDRD7 · cataract 36 · cataract type 36 · CATC4 · CTRCT36 · TDRD7 cataract (disease)

Data availability: 129 ClinVar variants · 3 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 › cataract 36

Related subtypes (28): immature cataract, diabetic cataract, mature cataract, tetanic cataract, myotonic cataract, senile cataract, diabetes mellitus type 2 associated cataract, cataract 4 multiple types, cataract 29, cataract 1 multiple types, early-onset non-syndromic cataract, cataract 3 multiple types, cataract 9 multiple types, cataract 28, cataract 18, cataract 12 multiple types, cataract 34 multiple types, bhaskar jagannathan syndrome, autosomal dominant cataract, craniostenosis cataract, Kozlowski Rafinski Klicharska syndrome, cataract 49, cataract 48, hypermature cataract, nuclear cataract, cortical cataract, cataract 2, multiple types, cataract 50 with or without glaucoma

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

129 retrieved; paginated sample, class counts are floors:

73 uncertain significance, 18 likely benign, 13 conflicting classifications of pathogenicity, 12 benign, 7 pathogenic, 4 benign/likely benign, 2 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1228374	NM_014290.3(TDRD7):c.2008C>T (p.Gln670Ter)	TDRD7	Pathogenic	criteria provided, single submitter
2413118	NM_014290.3(TDRD7):c.2660del (p.Lys887fs)	TDRD7	Pathogenic	criteria provided, single submitter
30903	NM_014290.3(TDRD7):c.1849GTT[1] (p.Val618del)	TDRD7	Pathogenic	no assertion criteria provided
426069	NM_014290.3(TDRD7):c.1129del (p.Ala377fs)	TDRD7	Pathogenic	no assertion criteria provided
427904	NM_014290.3(TDRD7):c.689dup (p.Tyr230Ter)	TDRD7	Pathogenic	no assertion criteria provided
427905	NM_014290.3(TDRD7):c.328dup (p.Thr110fs)	TDRD7	Pathogenic	no assertion criteria provided
4720913	NM_014290.3(TDRD7):c.2823del (p.Met942fs)	TDRD7	Pathogenic	criteria provided, single submitter
2505533	NM_014290.3(TDRD7):c.855G>A (p.Thr285=)	TDRD7	Likely pathogenic	criteria provided, single submitter
800981	NM_014290.3(TDRD7):c.2539G>A (p.Asp847Asn)	TDRD7	Likely pathogenic	no assertion criteria provided
2180729	NM_014290.3(TDRD7):c.2338A>G (p.Ile780Val)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
260378	NM_014290.3(TDRD7):c.2001C>G (p.Leu667=)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
260381	NM_014290.3(TDRD7):c.2079+7C>T	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
3051311	NM_014290.3(TDRD7):c.437A>G (p.Lys146Arg)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
364074	NM_014290.3(TDRD7):c.2488C>T (p.Arg830Cys)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
364076	NM_014290.3(TDRD7):c.2665A>G (p.Met889Val)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
364077	NM_014290.3(TDRD7):c.2679G>A (p.Thr893=)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
364079	NM_014290.3(TDRD7):c.2955A>G (p.Gly985=)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
539171	NM_014290.3(TDRD7):c.231C>T (p.Cys77=)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
772970	NM_014290.3(TDRD7):c.444C>T (p.Asn148=)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
872552	NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
914626	NM_014290.3(TDRD7):c.1032A>G (p.Lys344=)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
914670	NM_014290.3(TDRD7):c.3129T>C (p.His1043=)	TDRD7	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
364053	NM_014290.3(TDRD7):c.-147G>T	LOC124310607	Uncertain significance	criteria provided, single submitter
364055	NM_014290.3(TDRD7):c.-122T>C	LOC124310607	Uncertain significance	criteria provided, single submitter
364057	NM_014290.3(TDRD7):c.-42G>C	LOC124310607	Uncertain significance	criteria provided, single submitter
914590	NM_014290.3(TDRD7):c.-64A>G	LOC124310607	Uncertain significance	criteria provided, single submitter
914591	NM_014290.3(TDRD7):c.-47G>A	LOC124310607	Uncertain significance	criteria provided, single submitter
1966557	NM_014290.3(TDRD7):c.1535A>G (p.Gln512Arg)	LOC126860694	Uncertain significance	criteria provided, single submitter
3632836	NM_014290.3(TDRD7):c.1502A>G (p.Tyr501Cys)	LOC126860694	Uncertain significance	criteria provided, single submitter
364067	NM_014290.3(TDRD7):c.1445A>G (p.Tyr482Cys)	LOC126860694	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 0 · 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
TDRD7	Strong	Autosomal recessive	cataract 36	3

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
TDRD7	HGNC:30831	ENSG00000196116	Q8NHU6	Tudor domain-containing protein 7	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TDRD7	Tudor domain-containing protein 7	Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation.

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)
TDRD7	Other/Unknown	no		Tudor, OST-HTH/LOTUS_dom, SNase_OB-fold_sf

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
jejunal mucosa	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TDRD7	286	ubiquitous	yes	secondary oocyte, oocyte, jejunal mucosa

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TDRD7	1,583

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TDRD7	Q8NHU6	1

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
P granule organization	1	2808.7×	0.002	TDRD7
lens morphogenesis in camera-type eye	1	1296.3×	0.002	TDRD7
lens fiber cell differentiation	1	1053.2×	0.002	TDRD7
piRNA processing	1	842.6×	0.002	TDRD7
post-transcriptional regulation of gene expression	1	648.1×	0.002	TDRD7
spermatogenesis	1	35.2×	0.028	TDRD7

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TDRD7	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
TDRD7	4	Binding:4

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	TDRD7

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)
TDRD7	4	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.