Genopathy
Gene-Disorder Association · Article
Gene
PNPLA1
Patatin Like Domain 1, Omega-Hydroxyceramide Transacylase
Disorder
Ichthyosis
First reported 1950
Key publication · disorder [Syndermotic cataract and congenital ichthyosis].Klinische Monatsblatter fur Augenheilkunde und fur augenarztliche Fortbildung · 1950
Manually curated
Association Review

In brief

The association between PNPLA1 (Patatin Like Domain 1, Omega-Hydroxyceramide Transacylase) and Ichthyosis is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 1
Symptoms 1
Compounds 0
Trials 0
Publications 0
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

2 sources

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

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03
PNPLA1

The gene

1 source summary

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

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04
Ichthyosis

The disorder

8 database identifiers

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

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05
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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06
Provenance

References & sources

4 references

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

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