Genopathy
Gene-Disorder Association · Article
Gene
PNPLA1
Patatin Like Domain 1, Omega-Hydroxyceramide Transacylase
Disorder
Autosomal Recessive Congenital Ichthyosis
First reported 1952
Supporting publications 11
Key publication · disorder Collodion skin in the neonate due to lamellar ichthyosis.Archives of disease in childhood · 1952
Association Review

In brief

The association between PNPLA1 (Patatin Like Domain 1, Omega-Hydroxyceramide Transacylase) and Autosomal Recessive Congenital Ichthyosis is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 9
Symptoms 23
Compounds 0
Trials 0
Publications 11
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

1 source

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
Autosomal Recessive Congenital Ichthyosis

The disorder

11 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

21 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

9 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

11 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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