Genopathy
Gene-Disorder Association · Article
Gene
ALDH7A1
Aldehyde Dehydrogenase 7 Family Member A1
Disorder
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
First reported 2005
Supporting publications 78
Key publication · gene–disorder Epidemiology of pyridoxine dependent seizures in the Netherlands.Archives of disease in childhood · 2005
Key publication · disorder Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine.Pediatrics · 1954
Manually curated
Association Review

In brief

The association between ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1) and Epilepsy, Early-Onset, 4, Vitamin B6-Dependent 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 959
Symptoms 26
Compounds 0
Trials 0
Publications 78
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

4 sources

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

Request access
03
ALDH7A1

The gene

1 source summary

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

Request access
04
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

16 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

959 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

78 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access