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Article

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

Investigative ophthalmology & visual science - 1 Nov 2007

Weiss Jayne S, Kruth Howard S, Kuivaniemi Helena, Tromp Gerard, White Peter S, Winters R Scott, Lisch Walter, Henn Wolfram, Denninger Elke, Krause Matthias, Wasson Paul, Ebenezer Neil, Mahurkar Sunil, Nickerson Michael L

Abstract excerpt

PURPOSE: Schnyder crystalline corneal dystrophy (SCCD; MIM 121800) is a rare autosomal dominant disease characterized by an abnormal increase in cholesterol and phospholipid deposition in the cornea, leading to progressive corneal opacification. Although SCCD has been mapped to a genetic interval between markers D1S1160 and D1S1635, reclassification of a previously unaffected individual expanded the interval to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 1

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Source

Identifiers

PMID: 17962451
DOI: 10.1167/iovs.07-0845

Genes

UBIAD1
ANGPTL7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.PMID 17962451Read ↗

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein functionSemantic proximity Read ↗

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.Semantic proximity Read ↗

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

Functional study of SCCD pathogenic gene UBIAD1 (Review).Semantic proximity Read ↗

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.Semantic proximity Read ↗

UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.Semantic proximity Read ↗

Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.Semantic proximity Read ↗

The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.Semantic proximity Read ↗

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Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

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