Genopathy
Gene-Disorder Association · Article
Gene
MTRR
5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase
Disorder
Homocystinuria
First reported 1998
Supporting publications 7
Key publication · gene–disorder Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.Proceedings of the National Academy of Sciences of the United States of America · 1998
Key publication · disorder HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY.Archives of disease in childhood · 1963
Manually curated
Association Review

In brief

The association between MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase) and Homocystinuria is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
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

1 source

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

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03
MTRR

The gene

1 source summary

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

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04
Homocystinuria

The disorder

8 database identifiers

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

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05
Literature

Reading

7 publications

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

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06
Provenance

References & sources

10 references

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

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