AA amyloidosis

Summary

AA amyloidosis (MONDO:0019439) is a disease and 6 clinical trials. Top therapeutic interventions include daratumumab. A subtype of nervous system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 32
• Clinical trials: 6

Clinical features

Signs & symptoms

Clinical features (HPO)

32 HPO clinical features (Orphanet curated; top 32 by frequency):

HPO ID	Term	Frequency
HP:0000093	Proteinuria	Very frequent (80-99%)
HP:0000112	Nephropathy	Very frequent (80-99%)
HP:0001917	Renal amyloidosis	Very frequent (80-99%)
HP:0002615	Hypotension	Very frequent (80-99%)
HP:0011034	Amyloidosis	Very frequent (80-99%)
HP:0000100	Nephrotic syndrome	Frequent (30-79%)
HP:0000105	Enlarged kidney	Frequent (30-79%)
HP:0001396	Cholestasis	Frequent (30-79%)
HP:0002013	Vomiting	Frequent (30-79%)
HP:0002018	Nausea	Frequent (30-79%)
HP:0002024	Malabsorption	Frequent (30-79%)
HP:0002027	Abdominal pain	Frequent (30-79%)
HP:0002028	Chronic diarrhea	Frequent (30-79%)
HP:0002240	Hepatomegaly	Frequent (30-79%)
HP:0004395	Malnutrition	Frequent (30-79%)
HP:0004936	Venous thrombosis	Frequent (30-79%)
HP:0011830	Abnormal oral mucosa morphology	Frequent (30-79%)
HP:0012622	Chronic kidney disease	Frequent (30-79%)
HP:0000083	Renal insufficiency	Occasional (5-29%)
HP:0000853	Goiter	Occasional (5-29%)
HP:0001278	Orthostatic hypotension	Occasional (5-29%)
HP:0001744	Splenomegaly	Occasional (5-29%)
HP:0001919	Acute kidney injury	Occasional (5-29%)
HP:0005162	Abnormal left ventricular function	Occasional (5-29%)
HP:0009830	Peripheral neuropathy	Occasional (5-29%)
HP:0012185	Constrictive median neuropathy	Occasional (5-29%)
HP:0025077	Decreased QRS voltage	Occasional (5-29%)
HP:0030164	Jaw claudication	Occasional (5-29%)
HP:0000158	Macroglossia	Very rare (<1-4%)
HP:0000821	Hypothyroidism	Very rare (<1-4%)
HP:0000846	Adrenal insufficiency	Very rare (<1-4%)
HP:0030843	Cardiac amyloidosis	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	AA amyloidosis
Mondo ID	MONDO:0019439
Orphanet	85445
DOID	DOID:0080936
ICD-11	570181034
NCIT	C3818
SNOMED CT	281034005
UMLS	C3536715
MedGen	782429
GARD	0010560
MedDRA	10039811
Is cancer (heuristic)	no

Also known as: amyloid A amyloidosis · amyloidosis AA · inflammatory amyloidosis · reactive amyloidosis · secondary amyloidosis

Disease family

This is a subtype of nervous system 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 body system or component › nervous system disorder › AA amyloidosis

Related subtypes (71): congenital nervous system disorder, central nervous system disorder, autoimmune disorder of the nervous system, cranial nerve neuropathy, peripheral nervous system disorder, neuronitis, diplegia of upper limb, retinal disorder, developmental disability, restless legs syndrome, movement disorder, toxic encephalopathy, Barre-Lieou syndrome, Gerstmann syndrome, drug-induced akathisia, drug-induced dyskinesia, stiff-person syndrome, Worster-Drought syndrome, corneal-cerebellar syndrome, pachygyria-intellectual disability-epilepsy syndrome, porencephaly-cerebellar hypoplasia-internal malformations syndrome, symmetrical thalamic calcifications, neonatal brainstem dysfunction, primary orthostatic hypotension, rippling muscle disease with myasthenia gravis, periodic paralysis, qualitative or quantitative protein defects in neuromuscular diseases, specific learning disability, cerebellar hypoplasia-tapetoretinal degeneration syndrome, locked-in syndrome, dopa-responsive dystonia, idiopathic recurrent stupor, chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, spontaneous periodic hypothermia, Sydenham chorea, duplication of the pituitary gland, Balint syndrome, paraneoplastic neurologic syndrome, persistent idiopathic facial pain, serotonin syndrome, hypothalamic adipsic hypernatraemia syndrome, exercise-induced malignant hyperthermia, perineural cyst, neuromuscular disease, neuromyelitis optica, AL amyloidosis, neuroleptic malignant syndrome, infectious disorder of the nervous system, central nervous system malformation, synaptopathy, nervous system neoplasm, sensory ganglionopathy, radiculitis, wet beriberi, perceptual disorders, prepubertal anorexia nervosa, neurocutaneous syndrome, neurovascular disorder, Wallerian degeneration, nervous system injury, neurosarcoidosis, neuroendocrine disorder, tubulinopathy, atactic disorder, hereditary neurological disease, meningitis-retention syndrome, KIF1A related neurological disorder, neurological pain disorder, neurodevelopmental disorder, post 5-alpha-reductase inhibitors treatment syndrome, post-selective serotonin reuptake inhibitor sexual dysfunction

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: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1	2
Not specified	2
PHASE2/PHASE3	1
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00035334	PHASE2/PHASE3	COMPLETED	Study of the Safety and Efficacy of NC-503 in Secondary (AA) Amyloidosis
NCT03346135	PHASE2	ACTIVE_NOT_RECRUITING	Daratumumab After Stem Cell Transplant in Treating Patients With Multiple Myeloma
NCT03311828	PHASE1	COMPLETED	Copper 64Cu-DOTA-Daratumumab Positron Emission Tomography in Diagnosing Patients With Relapsed Multiple Myeloma
NCT06397001	PHASE1	COMPLETED	Treatment of AA Amyloidosis
NCT06354322	Not specified	RECRUITING	Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
NCT02704065	Not specified	COMPLETED	Recurrent AA Amyloidosis After Renal Transplantation

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DARATUMUMAB	4	2