methylmalonic aciduria and/or homocystinuria, cblD type

Summary

methylmalonic aciduria and/or homocystinuria, cblD type (MONDO:0100463) is a disease. A subtype of inborn disorder of cobalamin metabolism and transport — 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	methylmalonic aciduria and/or homocystinuria, cblD type
Mondo ID	MONDO:0100463
GARD	0026230
Is cancer (heuristic)	no

Disease family

This is a subtype of inborn disorder of cobalamin metabolism and transport. 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 vitamin metabolic disorder › inborn disorder of cobalamin metabolism and transport › methylmalonic aciduria and/or homocystinuria, cblD type

Related subtypes (8): transcobalamin I deficiency, hereditary intrinsic factor deficiency, Imerslund-Grasbeck syndrome, transcobalamin II deficiency, methylmalonic acidemia due to transcobalamin receptor defect, methylmalonic aciduria and homocystinuria, vitamin B12-responsive methylmalonic acidemia, homocystinuria without methylmalonic aciduria

Subtypes (3): methylmalonic aciduria and homocystinuria type cblD, methylcobalamin deficiency type cblDv1, vitamin B12-responsive methylmalonic acidemia, type cblDv2

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.