African iron overload

Summary

African iron overload (MONDO:0011012) is a disease. A subtype of hereditary hemochromatosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 25

Clinical features

Signs & symptoms

Clinical features (HPO)

25 HPO clinical features (Orphanet curated; top 25 by frequency):

HPO ID	Term	Frequency
HP:0003281	Increased circulating ferritin concentration	Very frequent (80-99%)
HP:0001395	Hepatic fibrosis	Frequent (30-79%)
HP:0002614	Hepatic periportal necrosis	Frequent (30-79%)
HP:0006562	Viral hepatitis	Frequent (30-79%)
HP:0012115	Hepatitis	Frequent (30-79%)
HP:0012463	Elevated transferrin saturation	Frequent (30-79%)
HP:0012465	Elevated hepatic iron concentration	Frequent (30-79%)
HP:0000078	Abnormality of the genital system	Occasional (5-29%)
HP:0000819	Diabetes mellitus	Occasional (5-29%)
HP:0001397	Hepatic steatosis	Occasional (5-29%)
HP:0001402	Hepatocellular carcinoma	Occasional (5-29%)
HP:0001413	Micronodular cirrhosis	Occasional (5-29%)
HP:0001627	Abnormal heart morphology	Occasional (5-29%)
HP:0001635	Congestive heart failure	Occasional (5-29%)
HP:0002240	Hepatomegaly	Occasional (5-29%)
HP:0003118	Increased circulating cortisol level	Occasional (5-29%)
HP:0011732	Abnormality of adrenal morphology	Occasional (5-29%)
HP:0011772	Abnormality of thyroid morphology	Occasional (5-29%)
HP:0012090	Abnormal pancreas morphology	Occasional (5-29%)
HP:0012852	Hepatic bridging fibrosis	Occasional (5-29%)
HP:0031035	Chronic infection	Occasional (5-29%)
HP:0100510	Vitamin C deficiency	Occasional (5-29%)
HP:0000939	Osteoporosis	Very rare (<1-4%)
HP:0002586	Peritonitis	Very rare (<1-4%)
HP:0011459	Esophageal carcinoma	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	African iron overload
Mondo ID	MONDO:0011012
MeSH	C537904
OMIM	601195
Orphanet	139507
DOID	DOID:0111033
ICD-11	869212237
SNOMED CT	66576001
UMLS	C0268063
MedGen	75649
GARD	0008495
NORD	740
Is cancer (heuristic)	no

Also known as: African iron overload · Bantu siderosis · hereditary iron overload and African Americans

Disease family

This is a subtype of hereditary hemochromatosis. 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 developmental or physiological process › metabolic disease › mineral metabolism disease › iron metabolism disease › hemosiderosis › hereditary hemochromatosis › African iron overload

Related subtypes (7): neonatal hemochromatosis, hemochromatosis type 3, hemochromatosis type 4, hemochromatosis type 5, hemochromatosis type 2, hemochromatosis type 1, digenic hemochromatosis

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.