Genopathy
Gene-Disorder Association · Article
Gene
BRPF1
Bromodomain And PHD Finger Containing 1
Disorder
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
First reported 1975
Supporting publications 5
Key publication · disorder Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance.Birth defects original article series · 1975
Manually curated
Association Review

In brief

The association between BRPF1 (Bromodomain And PHD Finger Containing 1) and Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 94
Symptoms 57
Compounds 0
Trials 0
Publications 5
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

5 sources

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

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03
BRPF1

The gene

2 source summaries

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

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04
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis

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

35 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

94 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

5 publications

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

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09
Provenance

References & sources

13 references

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

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