Genopathy
Gene-Disorder Association · Article
Gene
PDGFRB
Platelet Derived Growth Factor Receptor Beta
Disorder
Ocular Pterygium-Digital Keloid Dysplasia Syndrome
First reported 2021
Supporting publications 2
Key publication · gene–disorder Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.Human molecular genetics · 2021
Key publication · disorder Lamellar corneal transplantation; preliminary report.Archives of ophthalmology (Chicago, Ill. : 1929) · 1950
Manually curated
Association Review

In brief

The association between PDGFRB (Platelet Derived Growth Factor Receptor Beta) and Ocular Pterygium-Digital Keloid Dysplasia Syndrome is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 0
Symptoms 31
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
PDGFRB

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Ocular Pterygium-Digital Keloid Dysplasia Syndrome

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

16 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Literature

Reading

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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08
Provenance

References & sources

8 references

Every source and publication cited across this dossier, as one numbered reference list.

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