Genopathy
Gene-Disorder Association · Article
Gene
PHGDH
Phosphoglycerate Dehydrogenase
Disorder
Microcephaly
First reported 2000
Supporting publications 8
Key publication · gene–disorder Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.American journal of human genetics · 2000
Key publication · disorder [Diffuse symmetric calcification in a syndrome including microcephaly and meningoencephalitis].Archiv fur Psychiatrie und Nervenkrankheiten, vereinigt mit Zeitschrift fur die gesamte Neurologie und Psychiatrie · 1950
Manually curated
Association Review

In brief

The association between PHGDH (Phosphoglycerate Dehydrogenase) and Microcephaly is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 8
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
PHGDH

The gene

1 source summary

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

Request access
04
Microcephaly

The disorder

7 database identifiers

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

Request access
05
Literature

Reading

8 publications

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

Request access
06
Provenance

References & sources

10 references

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

Request access