Genopathy
Gene-Disorder Association · Article
Gene
CA5A
Carbonic Anhydrase 5A
Disorder
Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency
First reported 2014
Supporting publications 7
Key publication · gene–disorder Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.American journal of human genetics · 2014
Key publication · disorder Splicing in action: assessing disease causing sequence changes.Journal of medical genetics · 2005
Manually curated
Association Review

In brief

The association between CA5A (Carbonic Anhydrase 5A) and Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 157
Symptoms 0
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.

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02
Provenance

Evidence and sources

3 sources

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

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03
CA5A

The gene

1 source summary

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

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04
Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency

The disorder

4 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

157 clinical variants

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

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06
Literature

Reading

7 publications

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

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07
Provenance

References & sources

12 references

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

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