HPD and Disease Of Metabolism: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

HPD

4-Hydroxyphenylpyruvate Dioxygenase

Disorder

Disease Of Metabolism

First reported 2000

Supporting publications 1

Key publication · gene–disorder Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.Molecular genetics and metabolism · 2000

Key publication · disorder A system of physiodynamics and its application to the neuroendocrinology of psychiatry; part II of physiodynamics and some major metabolic disorders.Journal of clinical and experimental psychopathology · 1950

Manually curated

Association Review

In brief

The association between HPD (4-Hydroxyphenylpyruvate Dioxygenase) and Disease Of Metabolism is reported, with clinical genetic testing available.

Sources 1

Clinical variants 0

Symptoms 1

Compounds 0

Trials 0

Publications 1

01

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

02

Provenance

Evidence and sources

1 source

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

03

HPD

The gene

1 source summary

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

04

Disease Of Metabolism

The disorder

9 database identifiers

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

05

Literature

Reading

1 publication

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

06

Provenance

References & sources

4 references

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