Genopathy
Gene-Disorder Association · Article
Gene
LIPT2
Lipoyl(Octanoyl) Transferase 2
Disorder
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
First reported 2017
Supporting publications 1
Key publication · gene–disorder Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.American journal of human genetics · 2017
Key publication · disorder Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis.Acta neuropathologica · 1993
Manually curated
Association Review

In brief

The association between LIPT2 (Lipoyl(Octanoyl) Transferase 2) and Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 17
Symptoms 51
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.

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02
Provenance

Evidence and sources

4 sources

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

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03
LIPT2

The gene

1 source summary

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

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04
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities

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
Phenotype

Clinical features

27 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

17 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

1 publication

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

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09
Provenance

References & sources

8 references

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

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