Retinitis pigmentosa 33

Summary

Retinitis pigmentosa 33 (MONDO:0012477) is a disease caused by SNRNP200 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: SNRNP200 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 49

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 33
Mondo ID	MONDO:0012477
MeSH	C563676
OMIM	610359
DOID	DOID:0110366
UMLS	C1835895
MedGen	332080
GARD	0010400
Is cancer (heuristic)	no

Also known as: retinitis pigmentosa 33 · retinitis pigmentosa caused by mutation in SNRNP200 · retinitis pigmentosa type 33 · RP 33 · RP33 · SNRNP200 retinitis pigmentosa

Data availability: 49 ClinVar variants · 5 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 33

Related subtypes (101): retinitis pigmentosa 6, cone-rod dystrophy 2, retinitis pigmentosa 1, retinitis pigmentosa 9, retinitis pigmentosa 10, dominant pericentral pigmentary retinopathy, late-adult onset retinitis pigmentosa, autosomal recessive pericentral pigmentary retinopathy, retinitis pigmentosa 3, retinitis pigmentosa 24, retinitis pigmentosa 23, retinitis pigmentosa 34, retinitis pigmentosa 2, retinitis pigmentosa Y-linked, retinitis pigmentosa 13, retinitis pigmentosa 12, retinitis pigmentosa 14, retinitis pigmentosa 11, retinitis pigmentosa 17, retinitis pigmentosa 18, retinitis pigmentosa 19, retinitis pigmentosa 22, retinitis pigmentosa 25, retinitis pigmentosa 28, retinitis pigmentosa 30, retinitis pigmentosa 7, retinitis pigmentosa 26, retinitis pigmentosa 32, retinitis pigmentosa 31, retinitis pigmentosa 35, retinitis pigmentosa 36, retinitis pigmentosa 37, retinitis pigmentosa 41, retinitis pigmentosa 29, retinitis pigmentosa 46, retinitis pigmentosa 42, retinitis pigmentosa 50, retinitis pigmentosa 54, retinitis pigmentosa 51, retinitis pigmentosa 55, retinitis pigmentosa 56, retinitis pigmentosa 57, retinitis pigmentosa 58, cone-rod dystrophy 15, retinitis pigmentosa 4, retinitis pigmentosa 27, retinitis pigmentosa 49, retinitis pigmentosa 47, retinitis pigmentosa 45, retinitis pigmentosa 44, retinitis pigmentosa 20, retinitis pigmentosa 40, retinitis pigmentosa 39, retinitis pigmentosa 43, retinitis pigmentosa 48, retinitis pigmentosa 59, retinitis pigmentosa 38, retinitis pigmentosa 60, retinitis pigmentosa 61, retinitis pigmentosa 62, retinitis pigmentosa 63, cone-rod dystrophy 16, retinitis pigmentosa 66, retinitis pigmentosa with or without situs inversus, retinitis pigmentosa 67, retinitis pigmentosa 68, retinitis pigmentosa 69, retinitis pigmentosa 70, retinal dystrophy and obesity, retinitis pigmentosa 71, retinitis pigmentosa 72, retinitis pigmentosa 73, retinitis pigmentosa 74, retinitis pigmentosa 75, retinitis pigmentosa 76, retinitis pigmentosa 77, retinitis pigmentosa 92, retinitis pigmentosa 93, retinitis pigmentosa 83, retinitis pigmentosa 84, retinitis pigmentosa 85, retinitis pigmentosa 86, retinitis pigmentosa 87 with choroidal involvement, retinitis pigmentosa 88, retinitis pigmentosa 90, retinitis pigmentosa 81, retinitis pigmentosa 78, retinitis pigmentosa 79, retinitis pigmentosa 80, retinitis pigmentosa 94, variable age at onset, retinitis pigmentosa 53, retinitis pigmentosa 65, retinitis pigmentosa 64, retinitis pigmentosa 95, retinitis pigmentosa 96, retinitis pigmentosa 97, retinitis pigmentosa 98, retinitis pigmentosa 99, retinitis pigmentosa 100, retinitis pigmentosa 101, retinitis pigmentosa 7, digenic

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

49 retrieved; paginated sample, class counts are floors:

22 uncertain significance, 8 benign/likely benign, 6 conflicting classifications of pathogenicity, 4 benign, 3 pathogenic/likely pathogenic, 3 pathogenic, 2 likely benign, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
143144	NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)	SNRNP200	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
39746	NM_014014.5(SNRNP200):c.3269G>T (p.Arg1090Leu)	SNRNP200	Pathogenic	no assertion criteria provided
39747	NM_014014.5(SNRNP200):c.2653C>G (p.Gln885Glu)	SNRNP200	Pathogenic	no assertion criteria provided
636112	NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)	SNRNP200	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
7928	NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)	SNRNP200	Pathogenic	criteria provided, multiple submitters, no conflicts
862932	NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr)	SNRNP200	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
813998	NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val)	SNRNP200	Likely pathogenic	criteria provided, single submitter
1360981	NM_014014.5(SNRNP200):c.3269G>A (p.Arg1090Gln)	SNRNP200	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
191118	NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser)	SNRNP200	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
839536	NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys)	SNRNP200	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
839537	NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His)	SNRNP200	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
866658	NM_014014.5(SNRNP200):c.3688A>G (p.Ser1230Gly)	SNRNP200	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
931912	NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln)	SNRNP200	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1065772	NM_014014.5(SNRNP200):c.2581T>C (p.Tyr861His)	SNRNP200	Uncertain significance	criteria provided, single submitter
1213929	NM_014014.5(SNRNP200):c.1507G>A (p.Ala503Thr)	SNRNP200	Uncertain significance	criteria provided, single submitter
1480691	NM_014014.5(SNRNP200):c.2743-3T>C	SNRNP200	Uncertain significance	criteria provided, single submitter
1511786	NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe)	SNRNP200	Uncertain significance	criteria provided, multiple submitters, no conflicts
1687526	NM_014014.5(SNRNP200):c.1616T>A (p.Ile539Asn)	SNRNP200	Uncertain significance	criteria provided, multiple submitters, no conflicts
1709535	NM_014014.5(SNRNP200):c.5914A>C (p.Lys1972Gln)	SNRNP200	Uncertain significance	criteria provided, single submitter
2015383	NM_014014.5(SNRNP200):c.2580G>T (p.Gln860His)	SNRNP200	Uncertain significance	criteria provided, multiple submitters, no conflicts
2436215	NM_014014.5(SNRNP200):c.3322A>G (p.Thr1108Ala)	SNRNP200	Uncertain significance	criteria provided, single submitter
2436216	NM_014014.5(SNRNP200):c.5918G>A (p.Arg1973His)	SNRNP200	Uncertain significance	criteria provided, multiple submitters, no conflicts
2549472	NM_014014.5(SNRNP200):c.2951T>C (p.Leu984Pro)	SNRNP200	Uncertain significance	criteria provided, multiple submitters, no conflicts
3376710	NM_014014.5(SNRNP200):c.3341T>C (p.Leu1114Pro)	SNRNP200	Uncertain significance	criteria provided, multiple submitters, no conflicts
3382307	NM_014014.5(SNRNP200):c.2534G>A (p.Gly845Glu)	SNRNP200	Uncertain significance	criteria provided, single submitter
3775191	NM_014014.5(SNRNP200):c.2578C>A (p.Gln860Lys)	SNRNP200	Uncertain significance	criteria provided, multiple submitters, no conflicts
3892523	NM_014014.5(SNRNP200):c.1665T>G (p.Phe555Leu)	SNRNP200	Uncertain significance	criteria provided, single submitter
4080136	NM_014014.5(SNRNP200):c.1825G>T (p.Val609Leu)	SNRNP200	Uncertain significance	criteria provided, single submitter
4533222	NM_014014.5(SNRNP200):c.4634C>T (p.Pro1545Leu)	SNRNP200	Uncertain significance	criteria provided, single submitter
4533223	NM_014014.5(SNRNP200):c.1450_1507del (p.Ile484fs)	SNRNP200	Uncertain significance	criteria provided, single submitter

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
SNRNP200	Definitive	Autosomal dominant	retinitis pigmentosa 33	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SNRNP200	Orphanet:791	Retinitis pigmentosa

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
SNRNP200	HGNC:30859	ENSG00000144028	O75643	U5 small nuclear ribonucleoprotein 200 kDa helicase	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SNRNP200	U5 small nuclear ribonucleoprotein 200 kDa helicase	Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Enzyme (other)	1	12.0×	0.083

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SNRNP200	Enzyme (other)	yes	3.6.4.13	Helicase_C-like, Sec63-dom, DEAD/DEAH_box_helicase_dom

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
embryo	1
endometrium epithelium	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SNRNP200	294	ubiquitous	marker	ventricular zone, endometrium epithelium, embryo

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SNRNP200	4,118

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SNRNP200	O75643	81

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
mRNA Splicing - Minor Pathway	1	223.9×	0.013	SNRNP200
mRNA Splicing - Major Pathway	1	54.6×	0.022	SNRNP200
Dengue Virus-Host Interactions	1	45.7×	0.022	SNRNP200

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
spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	1	16852.0×	2e-04	SNRNP200
cis assembly of pre-catalytic spliceosome	1	8426.0×	2e-04	SNRNP200
osteoblast differentiation	1	121.2×	0.011	SNRNP200
mRNA splicing, via spliceosome	1	91.6×	0.011	SNRNP200

Therapeutics

Drug target analysis

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

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

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
SNRNP200	GILTERITINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SNRNP200	2	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
GILTERITINIB	4	SNRNP200
MOLIBRESIB	2	SNRNP200

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
SNRNP200	25	Binding:25

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
SNRNP200	3.6.4.13	RNA helicase

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

2 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.

Compound	Max phase	Cohort target (bioactivity)
GILTERITINIB	4	SNRNP200
MOLIBRESIB	2	SNRNP200

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	SNRNP200
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.