Retinitis pigmentosa 72

disease

On this page

Also known as retinitis pigmentosa caused by mutation in ZNF408retinitis pigmentosa type 72RP72ZNF408 retinitis pigmentosa

Summary

Retinitis pigmentosa 72 (MONDO:0014653) is a disease caused by ZNF408 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: ZNF408 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 72
Mondo ID	MONDO:0014653
OMIM	616469
DOID	DOID:0110395
UMLS	C4225315
MedGen	895867
GARD	0016119
Is cancer (heuristic)	no

Also known as: retinitis pigmentosa 72 · retinitis pigmentosa caused by mutation in ZNF408 · retinitis pigmentosa type 72 · RP72 · ZNF408 retinitis pigmentosa

Data availability: 9 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › retinitis pigmentosa › retinitis pigmentosa 72

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

9 retrieved; paginated sample, class counts are floors:

6 uncertain significance, 2 pathogenic, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
204316	NM_024741.3(ZNF408):c.363_364del (p.Ala122fs)	ZNF408	Pathogenic	no assertion criteria provided
204317	NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys)	ZNF408	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3775521	NM_024741.3(ZNF408):c.331-2A>G	ZNF408	Pathogenic	criteria provided, single submitter
1009846	NM_024741.3(ZNF408):c.1783C>T (p.Arg595Trp)	ZNF408	Uncertain significance	criteria provided, multiple submitters, no conflicts
853014	NM_024741.3(ZNF408):c.1889G>C (p.Arg630Pro)	ZNF408	Uncertain significance	criteria provided, multiple submitters, no conflicts
856497	NM_024741.3(ZNF408):c.896C>T (p.Thr299Ile)	ZNF408	Uncertain significance	criteria provided, multiple submitters, no conflicts
861438	NM_024741.3(ZNF408):c.457C>T (p.Leu153Phe)	ZNF408	Uncertain significance	criteria provided, multiple submitters, no conflicts
958331	NM_024741.3(ZNF408):c.1928C>T (p.Ala643Val)	ZNF408	Uncertain significance	criteria provided, multiple submitters, no conflicts
969022	NM_024741.3(ZNF408):c.2058T>G (p.Phe686Leu)	ZNF408	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 10 · Orphanet: 2 · 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
ZNF408	Strong	Autosomal recessive	retinitis pigmentosa 72	10

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ZNF408	Orphanet:791	Retinitis pigmentosa
ZNF408	Orphanet:891	Familial exudative vitreoretinopathy

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
ZNF408	HGNC:20041	ENSG00000175213	Q9H9D4	Zinc finger protein 408	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ZNF408	Zinc finger protein 408	May be involved in transcriptional regulation.

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)
ZNF408	Transcription factor	no		SET_dom, Znf_C2H2_type, Znf_C2H2_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
cervix squamous epithelium	1
endothelial cell	1
tendon of biceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ZNF408	224	ubiquitous	yes	endothelial cell, tendon of biceps brachii, cervix squamous epithelium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ZNF408	1,700

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ZNF408	Q9H9D4	56.25

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
regulation of transcription by RNA polymerase II	1	11.7×	0.086	ZNF408

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
ZNF408	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	ZNF408

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)
ZNF408	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: ZNF408