Genopathy
Gene-Disorder Association · Article
Gene
MTHFD1
Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1
Disorder
Immune Deficiency Disease
First reported 1968
Key publication · disorder Combined immune deficiency disease: its radiographic expression.Radiology · 1968
Manually curated
Association Review

In brief

The association between MTHFD1 (Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1) and Immune Deficiency Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 9
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
MTHFD1

The gene

1 source summary

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

Request access
04
Immune Deficiency Disease

The disorder

19 database identifiers

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

Request access
05
Phenotype

Clinical features

1 clinical feature

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

Request access
06
Provenance

References & sources

5 references

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

Request access