Aniridia 3

Summary

Aniridia 3 (MONDO:0014938) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	aniridia 3
Mondo ID	MONDO:0014938
OMIM	617142
UMLS	C4310695
MedGen	934662
GARD	0016201
Is cancer (heuristic)	no

Also known as: AN3 · aniridia 3 · aniridia 3; AN3 · aniridia type 3 · isolated aniridia caused by mutation in TRIM44 · TRIM44 isolated aniridia

Data availability: 4 ClinVar variants · 5 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › carcinoma › head and neck carcinoma › eye carcinoma › aniridia 3

Related subtypes (8): cornea squamous cell carcinoma, lacrimal gland carcinoma, eyelid carcinoma, eye carcinoma in situ, conjunctival squamous cell carcinoma, ocular sebaceous carcinoma, aniridia 2, PAX6-related ocular dysgenesis

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

4 retrieved; paginated sample, class counts are floors:

2 benign, 1 no classifications from unflagged records, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
264710	NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)	TRIM44	no classifications from unflagged records	no classifications from unflagged records
3892711	NM_017583.6(TRIM44):c.319_336dup (p.Glu112_Thr113insSerGluGluGluSerGlu)	TRIM44	Uncertain significance	criteria provided, single submitter
1342269	NM_017583.6(TRIM44):c.670-27G>C	TRIM44	Benign	criteria provided, multiple submitters, no conflicts
1342270	NM_017583.6(TRIM44):c.*23A>G	TRIM44	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · 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
TRIM44	Supportive	Autosomal dominant	isolated aniridia	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TRIM44	Orphanet:250923	Isolated aniridia

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
TRIM44	HGNC:19016	ENSG00000166326	Q96DX7	Tripartite motif-containing protein 44	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TRIM44	Tripartite motif-containing protein 44	May play a role in the process of differentiation and maturation of neuronal cells.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TRIM44	Transcription factor	no		Znf_B-box, TRIM/RBCC

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
inferior vagus X ganglion	1
pons	1
superior vestibular nucleus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TRIM44	298	ubiquitous	marker	pons, superior vestibular nucleus, inferior vagus X ganglion

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TRIM44	1,362

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TRIM44	Q96DX7	74.22

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
negative regulation of protein K48-linked ubiquitination	1	8426.0×	9e-04	TRIM44
positive regulation of cytokine-mediated signaling pathway	1	1685.2×	0.002	TRIM44
positive regulation of defense response to virus by host	1	526.6×	0.005	TRIM44
positive regulation of non-canonical NF-kappaB signal transduction	1	255.3×	0.008	TRIM44
regulation of gene expression	1	83.4×	0.019	TRIM44
protein stabilization	1	66.9×	0.020	TRIM44
innate immune response	1	33.6×	0.034	TRIM44
positive regulation of DNA-templated transcription	1	27.9×	0.036	TRIM44

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
TRIM44	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	TRIM44

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)
TRIM44	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.