Genopathy
Gene-Disorder Association · Article
Gene
DBR1
Debranching RNA Lariats 1
Disorder
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
First reported 2023
Supporting publications 1
Key publication · disorder A founder DBR1 variant causes a lethal form of congenital ichthyosis.Human genetics · 2023
Manually curated
Association Review

In brief

The association between DBR1 (Debranching RNA Lariats 1) and Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 1
Symptoms 64
Compounds 0
Trials 0
Publications 1
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

4 sources

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

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03
DBR1

The gene

1 source summary

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

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04
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction 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

27 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

1 clinical variant

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

1 publication

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

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09
Provenance

References & sources

7 references

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

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