Multiple carboxylase deficiency

Summary

Multiple carboxylase deficiency (MONDO:0015454) is a disease and 5 clinical trials. Top therapeutic interventions include adalimumab and atacicept. A subtype of inborn carbohydrate metabolic disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	multiple carboxylase deficiency
Mondo ID	MONDO:0015454
MeSH	D009100
Orphanet	148
DOID	DOID:857
ICD-10-CM	D81.81, D81.819
ICD-11	1133091451
UMLS	C0026755
MedGen	10119
GARD	0003824
MedDRA	10028176
Is cancer (heuristic)	no

Also known as: MCD · multiple carboxylase deficiency

Disease family

This is a subtype of inborn carbohydrate metabolic disorder. 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn carbohydrate metabolic disorder › multiple carboxylase deficiency

Related subtypes (17): GLUT1 deficiency syndrome, disorder of glycogen metabolism, primary hyperoxaluria, G6PD deficiency, hyperinsulinemic hypoglycemia, disorder of glycolysis, disorder of fructose metabolism, disorder of galactose metabolism, disorder of carbohydrate transmembrane transport and absorption, disorders of pentose/polyol metabolism, pyruvate dehydrogenase deficiency, disorder of gluconeogenesis, mucopolysaccharidosis, oligosaccharidosis, lactose intolerance, congenital disorder of deglycosylation 1, disorder of galactose and fructose metabolism

Subtypes (2): biotinidase deficiency, holocarboxylase synthetase 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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	2
Not specified	2
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06983028	PHASE2	RECRUITING	Atacicept in Multiple Glomerular Diseases
NCT04009668	PHASE2	COMPLETED	Tumor Necrosis Factor Inhibition in Focal Segmental Glomerulosclerosis and Treatment Resistant Minimal Change Disease
NCT07267026	PHASE1	RECRUITING	A Study to Evaluate the Safety, Tolerability and PK of SK-09
NCT04571658	Not specified	RECRUITING	NEPTUNE Match Study
NCT05650619	Not specified	RECRUITING	Recurrence Post-transplant Observational Study in Focal Segmental Glomerulosclerosis and Minimal Change Disease

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ADALIMUMAB	4	1
ATACICEPT	3	1