MELAS syndrome caused by mutation in MTTH

Summary

MELAS syndrome caused by mutation in MTTH (MONDO:0800034) is a disease. A subtype of MELAS syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	MELAS syndrome caused by mutation in MTTH
Mondo ID	MONDO:0800034
GARD	0026417
Is cancer (heuristic)	no

Also known as: MTTH MELAS syndrome

Disease family

This is a subtype of MELAS syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › syndromic disease › MELAS syndrome › MELAS syndrome caused by mutation in MTTH

Related subtypes (9): MELAS syndrome caused by mutation in MTTL1, MELAS syndrome caused by mutation in MTTQ, MELAS syndrome caused by mutation in MTTK, MELAS syndrome caused by mutation in MTTC, MELAS syndrome caused by mutation in MTTS1, MELAS syndrome caused by mutation in MTND1, MELAS syndrome caused by mutation in MTND5, MELAS syndrome caused by mutation in MTND6, MELAS syndrome caused by mutation in MTTS2

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.