wild type ABeta2M amyloidosis

Summary

wild type ABeta2M amyloidosis (MONDO:0019440) is a disease. A subtype of ABeta2M amyloidosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Phenotypes (HPO): 27

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	4.5	Europe	Validated

Signs & symptoms

Clinical features (HPO)

27 HPO clinical features (Orphanet curated; top 27 by frequency):

HPO ID	Term	Frequency
HP:0001369	Arthritis	Very frequent (80-99%)
HP:0030833	Neck pain	Very frequent (80-99%)
HP:0030834	Shoulder pain	Very frequent (80-99%)
HP:0003447	Axonal loss	Frequent (30-79%)
HP:0007078	Decreased amplitude of sensory action potentials	Frequent (30-79%)
HP:0012062	Bone cyst	Frequent (30-79%)
HP:0012185	Constrictive median neuropathy	Frequent (30-79%)
HP:0012531	Pain	Frequent (30-79%)
HP:0012534	Dysesthesia	Frequent (30-79%)
HP:0000762	Decreased nerve conduction velocity	Frequent (30-79%)
HP:0001227	Abnormality of the thenar eminence	Frequent (30-79%)
HP:0003401	Paresthesia	Frequent (30-79%)
HP:0000158	Macroglossia	Occasional (5-29%)
HP:0002015	Dysphagia	Occasional (5-29%)
HP:0002239	Gastrointestinal hemorrhage	Occasional (5-29%)
HP:0002242	Abnormal intestine morphology	Occasional (5-29%)
HP:0003040	Arthropathy	Occasional (5-29%)
HP:0005106	Abnormality of the vertebral endplates	Occasional (5-29%)
HP:0005108	Abnormal intervertebral disk morphology	Occasional (5-29%)
HP:0001635	Congestive heart failure	Very rare (<1-4%)
HP:0002273	Tetraparesis	Very rare (<1-4%)
HP:0002445	Tetraplegia	Very rare (<1-4%)
HP:0003043	Abnormality of the shoulder	Very rare (<1-4%)
HP:0004389	Intestinal pseudo-obstruction	Very rare (<1-4%)
HP:0011675	Arrhythmia	Very rare (<1-4%)
HP:0030843	Cardiac amyloidosis	Very rare (<1-4%)
HP:0100261	Abnormal tendon morphology	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	wild type ABeta2M amyloidosis
Mondo ID	MONDO:0019440
Orphanet	85446
ICD-11	499046814
SNOMED CT	32599008
UMLS	C0268405
MedGen	78673
GARD	0019065
Is cancer (heuristic)	no

Also known as: ABeta2Mwt amyloidosis · amyloidosis beta2m · amyloidosis dialysis-related · Beta-2-microglobulin amyloidosis · dialysis-related amyloidosis · dialysis-related arthropathy · DRA · wild type ABeta2-microglobulinic amyloidosis

Disease family

This is a subtype of ABeta2M 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 › ABeta2M amyloidosis › wild type ABeta2M amyloidosis

Related subtypes (1): variant ABeta2M amyloidosis

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.