Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism

Summary

Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism (MONDO:0008790) is a disease. A subtype of anemia, nonspherocytic hemolytic — 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	anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism
Mondo ID	MONDO:0008790
MeSH	C565952
OMIM	206400
UMLS	C1859785
MedGen	395345
GARD	0024641
Is cancer (heuristic)	no

Also known as: anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism

Disease family

This is a subtype of anemia, nonspherocytic hemolytic. 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 › hematologic disorder › anemia › congenital anemia › congenital nonspherocytic hemolytic anemia › anemia, nonspherocytic hemolytic › anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism

Related subtypes (2): anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane, anemia, nonspherocytic hemolytic, due to G6PD 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.