AH amyloidosis
diseaseOn this page
Also known as heavy chain amyloidosis
Summary
AH amyloidosis (MONDO:0018613) is a disease and 1 clinical trial. 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): 8
- Clinical trials: 1
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 12 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
8 HPO clinical features (Orphanet curated; top 8 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000112 | Nephropathy | Very frequent (80-99%) |
| HP:0000853 | Goiter | Frequent (30-79%) |
| HP:0001917 | Renal amyloidosis | Frequent (30-79%) |
| HP:0030843 | Cardiac amyloidosis | Frequent (30-79%) |
| HP:0031047 | Paraproteinemia | Frequent (30-79%) |
| HP:0031185 | Increased circulating NT-proBNP concentration | Frequent (30-79%) |
| HP:0100292 | Amyloidosis of peripheral nerves | Frequent (30-79%) |
| HP:0009830 | Peripheral neuropathy | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | AH amyloidosis |
| Mondo ID | MONDO:0018613 |
| Orphanet | 442582 |
| DOID | DOID:0080934 |
| ICD-11 | 1511136608 |
| NCIT | C158962 |
| UMLS | C5204115 |
| MedGen | 1684787 |
| GARD | 0021847 |
| Is cancer (heuristic) | no |
Also known as: heavy chain 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 › AH amyloidosis
Related subtypes (11): primary cutaneous amyloidosis, wild type ATTR amyloidosis, ALECT2 amyloidosis, AApoAIV amyloidosis, ABeta2M 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: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06065852 | Not specified | RECRUITING | National Registry of Rare Kidney Diseases |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.