AApoAIV amyloidosis

Summary

AApoAIV amyloidosis (MONDO:0018589) is a disease. A subtype of amyloidosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 30

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		2	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

30 HPO clinical features (Orphanet curated; top 30 by frequency):

HPO ID	Term	Frequency
HP:0003259	Elevated circulating creatinine concentration	Very frequent (80-99%)
HP:0100957	Abnormal renal medulla morphology	Very frequent (80-99%)
HP:0000822	Hypertension	Frequent (30-79%)
HP:0001917	Renal amyloidosis	Frequent (30-79%)
HP:0012622	Chronic kidney disease	Frequent (30-79%)
HP:0030872	Abnormal cardiac ventricular function	Frequent (30-79%)
HP:0032613	Renal interstitial amyloid deposits	Frequent (30-79%)
HP:0000093	Proteinuria	Occasional (5-29%)
HP:0000096	Glomerulosclerosis	Occasional (5-29%)
HP:0000819	Diabetes mellitus	Occasional (5-29%)
HP:0001639	Hypertrophic cardiomyopathy	Occasional (5-29%)
HP:0001677	Coronaryartery atherosclerosis	Occasional (5-29%)
HP:0001712	Left ventricular hypertrophy	Occasional (5-29%)
HP:0003077	Hyperlipidemia	Occasional (5-29%)
HP:0003418	Back pain	Occasional (5-29%)
HP:0006510	Chronic pulmonary obstruction	Occasional (5-29%)
HP:0011024	Abnormality of the gastrointestinal tract	Occasional (5-29%)
HP:0011713	Left bundle branch block	Occasional (5-29%)
HP:0012664	Reduced left ventricular ejection fraction	Occasional (5-29%)
HP:0031047	Paraproteinemia	Occasional (5-29%)
HP:0031546	Cardiac conduction abnormality	Occasional (5-29%)
HP:0032092	Left ventricular outflow tract obstruction	Occasional (5-29%)
HP:0034807	Paroxysmal nocturnal dyspnea	Occasional (5-29%)
HP:0001688	Sinus bradycardia	Very rare (<1-4%)
HP:0002088	Abnormal lung morphology	Very rare (<1-4%)
HP:0004381	Supravalvular aortic stenosis	Very rare (<1-4%)
HP:0004749	Atrial flutter	Very rare (<1-4%)
HP:0005110	Atrial fibrillation	Very rare (<1-4%)
HP:0012309	Cutaneous amyloidosis	Very rare (<1-4%)
HP:0030843	Cardiac amyloidosis	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	AApoAIV amyloidosis
Mondo ID	MONDO:0018589
Orphanet	439232
DOID	DOID:0080927
ICD-11	1235542353
UMLS	C5568805
MedGen	1800228
GARD	0021828
Is cancer (heuristic)	no

Also known as: apolipoprotein A-IV amyloidosis

Disease family

This is a subtype of amyloidosis. 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 › proteostasis deficiencies › amyloidosis › AApoAIV amyloidosis

Related subtypes (11): primary cutaneous amyloidosis, wild type ATTR amyloidosis, ALECT2 amyloidosis, ABeta2M amyloidosis, AH amyloidosis, hereditary amyloidosis, AL amyloidosis, AA amyloidosis, amyloidosis bronchopulmonary, soft tissue amyloid neoplasm, immunoglobulin heavy-and-light chain

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.