Retinitis pigmentosa 92

disease

On this page

Also known as RP92

Summary

Retinitis pigmentosa 92 (MONDO:0030619) is a disease with 1 cohort gene.

At a glance

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 92
Mondo ID	MONDO:0030619
OMIM	619614
DOID	DOID:0061107
UMLS	C5562022
MedGen	1794232
GARD	0025604
Is cancer (heuristic)	no

Also known as: retinitis pigmentosa 92 · RP92

Data availability: 9 ClinVar variants · 1 GenCC gene-disease record.

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 92

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:

5 uncertain significance, 3 likely pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
1321242	NM_025130.4(HKDC1):c.173C>T (p.Thr58Met)	HKDC1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3065416	NM_025130.4(HKDC1):c.1250A>G (p.Tyr417Cys)	HKDC1	Likely pathogenic	criteria provided, single submitter
3065578	NM_025130.4(HKDC1):c.250G>A (p.Asp84Asn)	HKDC1	Likely pathogenic	criteria provided, single submitter
617835	NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr)	HKDC1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
3068150	NM_025130.4(HKDC1):c.361G>A (p.Gly121Arg)	HKDC1	Uncertain significance	criteria provided, single submitter
3106144	NM_025130.4(HKDC1):c.1583T>C (p.Phe528Ser)	HKDC1	Uncertain significance	criteria provided, multiple submitters, no conflicts
3891327	NM_025130.4(HKDC1):c.650G>A (p.Cys217Tyr)	HKDC1	Uncertain significance	criteria provided, single submitter
3891328	NM_025130.4(HKDC1):c.432_438del (p.His145fs)	HKDC1	Uncertain significance	criteria provided, single submitter
4277525	NM_025130.4(HKDC1):c.256G>A (p.Gly86Arg)	HKDC1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · 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
HKDC1	Limited	Autosomal recessive	retinitis pigmentosa 92	2

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
HKDC1	HGNC:23302	ENSG00000156510	Q2TB90	Hexokinase HKDC1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
HKDC1	Hexokinase HKDC1	Catalyzes the phosphorylation of hexose to hexose 6-phosphate, although at very low level compared to other hexokinases.

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
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
HKDC1	Kinase	yes	2.7.1.1	Hexokinase, Hexokinase_BS, Hexokinase_N

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
duodenum	1
jejunal mucosa	1
male germ line stem cell (sensu Vertebrata) in testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
HKDC1	162	broad	marker	jejunal mucosa, duodenum, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
HKDC1	1,393

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
HKDC1	Q2TB90	93.37

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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
Glycolysis	1	285.5×	0.004	HKDC1

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
glucose 6-phosphate metabolic process	1	1296.3×	0.003	HKDC1
intracellular glucose homeostasis	1	581.1×	0.003	HKDC1
glycolytic process	1	383.0×	0.003	HKDC1
glucose metabolic process	1	255.3×	0.004	HKDC1

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
HKDC1	CHLORHEXIDINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
HKDC1	2	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
CHLORHEXIDINE	4	HKDC1
EBSELEN	3	HKDC1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
HKDC1	7	Functional:6, Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
HKDC1	2.7.1.1	hexokinase

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)
CHLORHEXIDINE	4	HKDC1
EBSELEN	3	HKDC1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	HKDC1
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: HKDC1