Genopathy
Gene-Disorder Association · Article
Gene
VHL
Von Hippel-Lindau Tumor Suppressor
Disorder
Hereditary Paraganglioma-Pheochromocytoma Syndromes
First reported 1963
Supporting publications 8
Key publication · disorder [Cervical paragangliomas: 4 cases].Annales d'anatomie pathologique · 1963
Manually curated
Association Review

In brief

The association between VHL (Von Hippel-Lindau Tumor Suppressor) and Hereditary Paraganglioma-Pheochromocytoma Syndromes is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 1
Symptoms 47
Compounds 0
Trials 0
Publications 8
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
VHL

The gene

2 source summaries

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

Request access
04
Hereditary Paraganglioma-Pheochromocytoma Syndromes

The disorder

12 database identifiers

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

Request access
05
Phenotype

Clinical features

41 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

8 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access