Gene-Disorder Association · Article
Gene
HMBS Hydroxymethylbilane Synthase
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First reported
1985
Supporting publications
53
Manually curated Approved treatment annotated
Association Review
In brief The association between HMBS (Hydroxymethylbilane Synthase) and Acute Porphyria is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.
Sources
1
Clinical variants
134
Symptoms
11
Compounds
1
Trials
4 of 5 via HMBS compounds
Publications
53
Contents
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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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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A gene summary alongside the source descriptions it was distilled from.
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Acute Porphyria
The disorder 7 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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ClinVar and variant evidence
Genetic basis 134 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Mechanism overlap
Shared mechanisms 1 shared pathway
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 1 compound or drug
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 5 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 18 references
Every source and publication cited across this dossier, as one numbered reference list.
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