Genopathy
Gene-Disorder Association · Article
Gene
ALDH18A1
Aldehyde Dehydrogenase 18 Family Member A1
Disorder
Spastic Paraplegia 9a, Autosomal Dominant
First reported 1996
Supporting publications 4
Key publication · gene–disorder Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?American journal of medical genetics · 1996
Key publication · disorder Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: a new autosomal recessive condition?Annales de genetique · 1994
Manually curated
Association Review

In brief

The association between ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1) and Spastic Paraplegia 9a, Autosomal Dominant is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 40
Symptoms 83
Compounds 0
Trials 0
Publications 4
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

5 sources

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

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03
ALDH18A1

The gene

1 source summary

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

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04
Spastic Paraplegia 9a, Autosomal Dominant

The disorder

12 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

58 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

40 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

4 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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