Thiamine-responsive dysfunction syndrome

Summary

Thiamine-responsive dysfunction syndrome (MONDO:0000152) is a disease (an umbrella term covering 5 Mondo subtypes). A subtype of disorder of thiamine metabolism and transport — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 5 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	thiamine-responsive dysfunction syndrome
Mondo ID	MONDO:0000152
OMIM	249270
GARD	0022716
Is cancer (heuristic)	no

Also known as: thiamine-responsive dysfunction syndrome

Disease family

An umbrella term covering 5 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › disorder of metabolite absorption and transport › disorder of vitamin and non-protein cofactor absorption and transport › disorder of thiamine metabolism and transport › thiamine-responsive dysfunction syndrome

Related subtypes (1): infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Subtypes (5): thiamine-responsive megaloblastic anemia syndrome, Amish lethal microcephaly, biotin-responsive basal ganglia disease, progressive demyelinating neuropathy with bilateral striatal necrosis, childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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.