Retinitis pigmentosa 10

disease

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Also known as IMPDH1 retinitis pigmentosaretinitis pigmentosa caused by mutation in IMPDH1retinitis pigmentosa type 10RP10

Summary

Retinitis pigmentosa 10 (MONDO:0008379) is a disease caused by IMPDH1 (GenCC Definitive), with 1 cohort gene.

At a glance

Causal gene: IMPDH1 (GenCC Definitive)
Cohort genes: 1
ClinVar variants: 28

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 10
Mondo ID	MONDO:0008379
MeSH	C566715
OMIM	180105
DOID	DOID:0110388
UMLS	C1867299
MedGen	357247
GARD	0015110
Is cancer (heuristic)	no

Also known as: IMPDH1 retinitis pigmentosa · retinitis pigmentosa 10 · retinitis pigmentosa caused by mutation in IMPDH1 · retinitis pigmentosa type 10 · RP10

Data availability: 28 ClinVar variants · 3 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 10

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

28 retrieved; paginated sample, class counts are floors:

11 uncertain significance, 9 conflicting classifications of pathogenicity, 4 likely pathogenic, 2 pathogenic/likely pathogenic, 2 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
14834	NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn)	IMPDH1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1810221	NM_000883.4(IMPDH1):c.942G>C (p.Lys314Asn)	IMPDH1	Pathogenic	criteria provided, single submitter
254167	NM_000883.4(IMPDH1):c.984G>C (p.Gln328His)	IMPDH1	Pathogenic	no assertion criteria provided
937932	NM_000883.4(IMPDH1):c.968A>G (p.Lys323Arg)	IMPDH1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14836	NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro)	IMPDH1	Likely pathogenic	criteria provided, single submitter
2628051	NM_000883.4(IMPDH1):c.1417T>C (p.Ser473Pro)	IMPDH1	Likely pathogenic	criteria provided, single submitter
2920624	NM_000883.4(IMPDH1):c.256A>G (p.Met86Val)	IMPDH1	Likely pathogenic	no assertion criteria provided
3236199	NM_000883.4(IMPDH1):c.590_591inv (p.Gln197Pro)	IMPDH1	Likely pathogenic	criteria provided, single submitter
1044934	NM_000883.4(IMPDH1):c.1436C>T (p.Thr479Met)	IMPDH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1147181	NM_000883.4(IMPDH1):c.218G>A (p.Gly73Asp)	IMPDH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
193819	NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr)	IMPDH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
444730	NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser)	IMPDH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
493464	NM_000883.4(IMPDH1):c.936GAA[2] (p.Lys314del)	IMPDH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
618691	NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu)	IMPDH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
858742	NM_000883.4(IMPDH1):c.698G>C (p.Gly233Ala)	IMPDH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
866656	NM_000883.4(IMPDH1):c.943A>T (p.Asn315Tyr)	IMPDH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
910798	NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp)	IMPDH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1040093	NM_000883.4(IMPDH1):c.1800A>G (p.Ter600Trp)	IMPDH1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1172714	NM_000883.4(IMPDH1):c.940A>G (p.Lys314Glu)	IMPDH1	Uncertain significance	criteria provided, single submitter
14835	NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile)	IMPDH1	Uncertain significance	criteria provided, single submitter
1806065	NM_000883.4(IMPDH1):c.662G>A (p.Arg221Gln)	IMPDH1	Uncertain significance	criteria provided, multiple submitters, no conflicts
194611	NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)	IMPDH1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2920625	NM_000883.4(IMPDH1):c.547G>C (p.Glu183Gln)	IMPDH1	Uncertain significance	no assertion criteria provided
3382485	NM_000883.4(IMPDH1):c.288C>G (p.Gly96=)	IMPDH1	Uncertain significance	criteria provided, single submitter
3776049	NM_000883.4(IMPDH1):c.1731G>T (p.Lys577Asn)	IMPDH1	Uncertain significance	criteria provided, single submitter
450043	NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys)	IMPDH1	Uncertain significance	criteria provided, multiple submitters, no conflicts
560464	NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile)	IMPDH1	Uncertain significance	criteria provided, single submitter
829898	NM_000883.4(IMPDH1):c.1642G>A (p.Gly548Ser)	IMPDH1	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 8 · 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
IMPDH1	Definitive	Autosomal dominant	retinitis pigmentosa 10	8

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
IMPDH1	Orphanet:65	Leber congenital amaurosis
IMPDH1	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
IMPDH1	HGNC:6052	ENSG00000106348	P20839	Inosine-5’-monophosphate dehydrogenase 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
IMPDH1	Inosine-5’-monophosphate dehydrogenase 1	Catalyzes the conversion of inosine 5’-phosphate (IMP) to xanthosine 5’-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of…

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)
IMPDH1	Enzyme (other)	yes	1.1.1.205	CBS_dom, IMP_DH_GMPRt, IMP_DH

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
granulocyte	1
leukocyte	1
monocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
IMPDH1	249	ubiquitous	marker	granulocyte, monocyte, leukocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IMPDH1	3,227

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
IMPDH1	P20839	18

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 14. 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
Nucleotide biosynthesis	1	5710.0×	0.002	IMPDH1
Purine ribonucleoside monophosphate biosynthesis	1	1038.2×	0.007	IMPDH1
Azathioprine ADME	1	496.5×	0.009	IMPDH1
Metabolism of nucleotides	1	300.5×	0.012	IMPDH1
Drug ADME	1	228.4×	0.012	IMPDH1
Potential therapeutics for SARS	1	114.2×	0.020	IMPDH1
SARS-CoV Infections	1	55.4×	0.036	IMPDH1
Viral Infection Pathways	1	30.8×	0.055	IMPDH1
Innate Immune System	1	25.5×	0.055	IMPDH1
Infectious disease	1	24.8×	0.055	IMPDH1
Neutrophil degranulation	1	23.1×	0.055	IMPDH1
Disease	1	13.1×	0.083	IMPDH1
Immune System	1	13.0×	0.083	IMPDH1
Metabolism	1	11.6×	0.086	IMPDH1

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
lymphocyte proliferation	1	2407.4×	6e-04	IMPDH1
‘de novo’ XMP biosynthetic process	1	2106.5×	6e-04	IMPDH1
GMP biosynthetic process	1	1872.4×	6e-04	IMPDH1
GTP biosynthetic process	1	1685.2×	6e-04	IMPDH1

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
IMPDH1	MYCOPHENOLIC ACID

Top cohort targets by molecule count

Symbol	Molecules	Max phase
IMPDH1	2	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MYCOPHENOLIC ACID	4	IMPDH1
MERIMEPODIB	2	IMPDH1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
IMPDH1	46	Binding:40, Functional:6

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
IMPDH1	1.1.1.205	IMP dehydrogenase

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)
MYCOPHENOLIC ACID	4	IMPDH1
MERIMEPODIB	2	IMPDH1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	IMPDH1
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.

Cohort genes: IMPDH1