Idiopathic malabsorption due to bile acid synthesis defects

Summary

Idiopathic malabsorption due to bile acid synthesis defects (MONDO:0019393) is a disease. A subtype of inborn disorder of bile acid synthesis — 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	idiopathic malabsorption due to bile acid synthesis defects
Mondo ID	MONDO:0019393
Orphanet	84065
UMLS	C4274509
MedGen	900722
GARD	0019046
Is cancer (heuristic)	no

Also known as: idiopathic bile acid malabsorption

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn disorder of amino acid and other organic acid metabolism › inborn disorder of bile acid synthesis › idiopathic malabsorption due to bile acid synthesis defects

Related subtypes (4): cerebrotendinous xanthomatosis, hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency, bile acid CoA ligase deficiency and defective amidation, hypercholanemia, familial

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.