Nephronophthisis 18

disease

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Also known as CEP83 nephronophthisis (disease)nephronophthisis (disease) caused by mutation in CEP83nephronophthisis type 18NPHP18

Summary

Nephronophthisis 18 (MONDO:0014374) is a disease caused by CEP83 (GenCC Definitive), with 1 cohort gene.

At a glance

Causal gene: CEP83 (GenCC Definitive)
Cohort genes: 1
ClinVar variants: 456

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	nephronophthisis 18
Mondo ID	MONDO:0014374
OMIM	615862
DOID	DOID:0111125
UMLS	C3890591
MedGen	855697
GARD	0024992
Is cancer (heuristic)	no

Also known as: CEP83 nephronophthisis (disease) · nephronophthisis (disease) caused by mutation in CEP83 · nephronophthisis 18 · nephronophthisis type 18 · NPHP18

Data availability: 456 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal recessive disease › nephronophthisis › nephronophthisis 18

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

456 retrieved; paginated sample, class counts are floors:

195 likely benign, 194 uncertain significance, 36 pathogenic, 13 conflicting classifications of pathogenicity, 9 benign, 4 likely pathogenic, 3 benign/likely benign, 2 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1070747	NM_016122.3(CEP83):c.2007del (p.Glu669fs)	CEP83	Pathogenic	criteria provided, multiple submitters, no conflicts
1072001	NM_016122.3(CEP83):c.1060_1063del (p.Asp354fs)	CEP83	Pathogenic	criteria provided, single submitter
1072570	NM_016122.3(CEP83):c.643C>T (p.Arg215Ter)	CEP83	Pathogenic	criteria provided, single submitter
1354313	NM_016122.3(CEP83):c.1531C>T (p.Arg511Ter)	CEP83	Pathogenic	criteria provided, single submitter
139540	NM_016122.3(CEP83):c.121C>T (p.Arg41Ter)	CEP83	Pathogenic	criteria provided, single submitter
139541	NM_016122.3(CEP83):c.335_352del (p.Pro112_Leu117del)	CEP83	Pathogenic	no assertion criteria provided
139542	NM_016122.3(CEP83):c.241C>T (p.Gln81Ter)	CEP83	Pathogenic	criteria provided, single submitter
139543	NM_016122.3(CEP83):c.2072AAC[1] (p.Gln692del)	CEP83	Pathogenic	no assertion criteria provided
139544	NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro)	CEP83	Pathogenic	criteria provided, single submitter
139545	NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)	CEP83	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
139546	NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter)	CEP83	Pathogenic	no assertion criteria provided
1399996	NM_016122.3(CEP83):c.1451C>A (p.Ser484Ter)	CEP83	Pathogenic	criteria provided, single submitter
1400746	NM_016122.3(CEP83):c.1867C>T (p.Gln623Ter)	CEP83	Pathogenic	criteria provided, single submitter
1427235	NM_016122.3(CEP83):c.1165C>T (p.Gln389Ter)	CEP83	Pathogenic	criteria provided, single submitter
1437595	NM_016122.3(CEP83):c.1542_1558del (p.Arg514fs)	CEP83	Pathogenic	criteria provided, single submitter
1438565	NM_016122.3(CEP83):c.1311_1315del (p.Glu437fs)	CEP83	Pathogenic	criteria provided, single submitter
1447344	NM_016122.3(CEP83):c.1621A>T (p.Lys541Ter)	CEP83	Pathogenic	criteria provided, single submitter
1453375	NM_016122.3(CEP83):c.499G>T (p.Glu167Ter)	CEP83	Pathogenic	criteria provided, single submitter
1454432	NM_016122.3(CEP83):c.1462_1465del (p.Ser488fs)	CEP83	Pathogenic	criteria provided, single submitter
1457969	NM_016122.3(CEP83):c.606del (p.Leu203fs)	CEP83	Pathogenic	criteria provided, single submitter
1935680	NM_016122.3(CEP83):c.940G>T (p.Glu314Ter)	CEP83	Pathogenic	criteria provided, single submitter
2032587	NM_016122.3(CEP83):c.1327G>T (p.Glu443Ter)	CEP83	Pathogenic	criteria provided, single submitter
2419008	NM_016122.3(CEP83):c.1948C>T (p.Gln650Ter)	CEP83	Pathogenic	criteria provided, single submitter
2426269	NC_000012.11:g.(?94794606)(94806266_?)del	CEP83	Pathogenic	criteria provided, single submitter
2707715	NM_016122.3(CEP83):c.1170del (p.Lys390fs)	CEP83	Pathogenic	criteria provided, single submitter
2721736	NM_016122.3(CEP83):c.1183C>T (p.Gln395Ter)	CEP83	Pathogenic	criteria provided, single submitter
2729193	NM_016122.3(CEP83):c.1580del (p.Thr527fs)	CEP83	Pathogenic	criteria provided, single submitter
2756615	NM_016122.3(CEP83):c.1729A>T (p.Lys577Ter)	CEP83	Pathogenic	criteria provided, single submitter
3233347	NM_016122.3(CEP83):c.1052T>G (p.Leu351Ter)	CEP83	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3668454	NM_016122.3(CEP83):c.1033C>T (p.Gln345Ter)	CEP83	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · 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
CEP83	Definitive	Autosomal recessive	nephronophthisis 18	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CEP83	Orphanet:93591	Infantile nephronophthisis

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
CEP83	HGNC:17966	ENSG00000173588	Q9Y592	Centrosomal protein of 83 kDa	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CEP83	Centrosomal protein of 83 kDa	Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · 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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CEP83	Other/Unknown	no		Centro_Cilium_Assembly

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
calcaneal tendon	1
right uterine tube	1
sural nerve	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CEP83	233	ubiquitous	marker	right uterine tube, calcaneal tendon, sural nerve

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CEP83	1,941

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CEP83	Q9Y592	81.90

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
Anchoring of the basal body to the plasma membrane	1	113.1×	0.014	CEP83
Cilium Assembly	1	108.8×	0.014	CEP83
Organelle biogenesis and maintenance	1	66.0×	0.015	CEP83

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
establishment of centrosome localization	1	1685.2×	0.002	CEP83
obsolete vesicle docking	1	766.0×	0.002	CEP83
protein localization to centrosome	1	674.1×	0.002	CEP83
cilium assembly	1	73.6×	0.014	CEP83

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
CEP83	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	CEP83

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)
CEP83	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: CEP83