Genopathy
Gene-Disorder Association · Article
Gene
UROD
Uroporphyrinogen Decarboxylase
Disorder
Familial Porphyria Cutanea Tarda
First reported 1989
Supporting publications 6
Key publication · gene–disorder A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.Blood · 1989
Key publication · disorder [HEREDITARY PORPHYRIA CUTANEA TARDA. ALCOHOLISM AND HEPATIC LESIONS].Minerva medica · 1964
Manually curated
Association Review

In brief

The association between UROD (Uroporphyrinogen Decarboxylase) and Familial Porphyria Cutanea Tarda is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 48
Symptoms 0
Compounds 0
Trials 0
Publications 6
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
UROD

The gene

1 source summary

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

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04
Familial Porphyria Cutanea Tarda

The disorder

6 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

48 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

6 publications

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

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07
Provenance

References & sources

10 references

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

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