Genopathy
Gene-Disorder Association · Article
Gene
TEFM
Transcription Elongation Factor, Mitochondrial
Disorder
Combined Oxidative Phosphorylation Deficiency 58
First reported 1989
Key publication · disorder [Diagnostic criteria in classical infantile subacute necrotizing encephalomyelopathy (Leigh's disease)].Klinische Padiatrie · 1989
Manually curated
Association Review

In brief

The association between TEFM (Transcription Elongation Factor, Mitochondrial) and Combined Oxidative Phosphorylation Deficiency 58 is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and causative variation.

Sources 2
Clinical variants 0
Symptoms 65
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

2 sources

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

Request access
03
TEFM

The gene

1 source summary

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

Request access
04
Combined Oxidative Phosphorylation Deficiency 58

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

46 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

4 references

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

Request access