Genopathy
Gene-Disorder Association · Article
Gene
HACL1
2-Hydroxyacyl-CoA Lyase 1
Disorder
Biotinidase Deficiency
First reported 2010
Key publication · gene–disorder The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).Molecular genetics and metabolism · 2010
Key publication · disorder [Simple method of testing light filters by means of the Biot-Klein quartz plate and polarization microscope].Mikroskopie · 1950
Manually curated
Association Review

In brief

The association between HACL1 (2-Hydroxyacyl-CoA Lyase 1) and Biotinidase Deficiency is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 62
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
HACL1

The gene

1 source summary

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

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04
Biotinidase Deficiency

The disorder

15 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

49 clinical features

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

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06
Provenance

References & sources

7 references

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

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