Genopathy
Gene-Disorder Association · Article
Gene
FA2H
Fatty Acid 2-Hydroxylase
Disorder
Leukodystrophy
First reported 2008
Supporting publications 3
Key publication · gene–disorder Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.American journal of human genetics · 2008
Key publication · disorder [Familial leukodystrophy and spleno-hepatic determination characterizing a general metabolic disorder].Revue neurologique · 1954
Manually curated
Association Review

In brief

The association between FA2H (Fatty Acid 2-Hydroxylase) and Leukodystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 10
Compounds 0
Trials 0
Publications 3
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
FA2H

The gene

1 source summary

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

Request access
04
Leukodystrophy

The disorder

7 database identifiers

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

Request access
05
Literature

Reading

3 publications

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

Request access
06
Provenance

References & sources

6 references

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

Request access