NDP

Chr XXLDXLR

norrin cystine knot growth factor NDP

Also known as: EVR2, FEVR, ND

NCBI Gene: 4693ENSG00000124479UniProt: Q00604OMIM: 300658

This gene encodes norrin, a secreted protein that activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptors and plays a central role in retinal vascularization. Mutations cause Norrie disease and X-linked exudative vitreoretinopathy, both affecting retinal development and vascular formation. The gene shows X-linked inheritance patterns.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismXLD/XLRLOEUF 0.882 OMIM phenotypes
Clinical Summary— NDP
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Gene-Disease Validity (ClinGen)
Norrie disease · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.65) — some intolerance to loss-of-function variants.
Explore recent and relevant literature in Research Assistant →
📖
GeneReview available — NDP
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.88LOEUF
pLI 0.650
Z-score 1.71
OE 0.00 (0.00–0.88)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
0.97Z-score
OE missense 0.62 (0.46–0.83)
31 obs / 50.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.88)
0≤0.351.4
Missense OE0.62 (0.46–0.83)
0≤0.61.4
Synonymous OE1.21
0≤1.21.6
LoF obs/exp: 0 / 3.4Missense obs/exp: 31 / 50.4Syn Z: -0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NDP · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Correction: Biodegradable polyurethane nerve conduits functionalized with NDP-MSH-loaded self-assembling peptide hydrogels for peripheral nerve regeneration.
Li J et al.·J Mater Chem B
2026Functional
Case Report: Acute keratoconus as the presenting feature in undiagnosed Norrie disease: hypothesis from a novel NDP mutation.
Cao X et al.·Front Med (Lausanne)
2026Open AccessCase report
Biodegradable polyurethane nerve conduits functionalized with NDP-MSH-loaded self-assembling peptide hydrogels for peripheral nerve regeneration.
Li J et al.·J Mater Chem B
2026Functional
5' UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy.
Liu S et al.·Orphanet J Rare Dis
2025Open Access
Colorimetric assays for the detection of C4- and C2-epimerization of NDP-glucose to NDP-galactose and NDP-mannose.
Vogel U et al.·Anal Biochem
2025
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients