ABHD5 and Ichthyosis: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

ABHD5

Abhydrolase Domain Containing 5, Lysophosphatidic Acid Acyltransferase

Disorder

Ichthyosis

First reported 2003

Supporting publications 7

Key publication · gene–disorder Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.The Journal of investigative dermatology · 2003

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 ABHD5 (Abhydrolase Domain Containing 5, Lysophosphatidic Acid Acyltransferase) and Ichthyosis is reported, with clinical genetic testing available.

Sources 1

Clinical variants 0

Symptoms 1

Compounds 0

Trials 0

Publications 7

01

At a glance

Association overview

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

02

Provenance

Evidence and sources

1 source

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

03

ABHD5

The gene

1 source summary

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

04

Ichthyosis

The disorder

8 database identifiers

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

05

Literature

Reading

7 publications

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

06

Provenance

References & sources

10 references

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