Primary localized amyloidosis

General Information (adopted from Orphanet):

Synonyms, Signs: Localized immunoglobulinic amyloidosis
Localized AL amyloidosis
Number of Symptoms 40
OrphanetNr: 314709
OMIM Id:
ICD-10: E85.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AL amyloidosis
 -Rare cardiac disease
 -Rare genetic disease
 -Rare hematologic disease
 -Rare neurologic disease
 -Rare oncologic disease
 -Rare renal disease
 -Rare systemic or rheumatologic disease

Comment:

Annotated subdisease of AL amyloidosis (Disease:6857, Orphanet:85443) Primary immunoglobulin light chain (AL) amyloidosis represents a multisystem disorder caused by extracellular deposition of insoluble fibrillar proteins (amyloid fibrils) (PMID:17397946). They may either be localized to any organ (primary localized amyloidosis) or systematically distributed throughout the body (primary systemic amyloidosis). Primary localized amyloidoses of the genitourinary tract (especially with involvement of the isolated urinary bladder), isolated primary cardiac AL amyloidosis (especially associated with porokeratosis of Mibelli), PLA in the orbit, in the ureter, and localized (primary) pulmonary amyloidosis are rare.

Symptom Information: Sort by abundance 

1
 (HPO:0000119) Abnormality of the genitourinary system Rare [IBIS] 24693509 IBIS 34 / 7739
2
 (HPO:0010944) Abnormality of the renal pelvis Rare [IBIS] 1632328 IBIS 3 / 7739
3
 (HPO:0000790) Hematuria 24693509 IBIS 106 / 7739
4
 (HPO:0010288) Abnormality of the sublingual glands 9745189 IBIS 2 / 7739
5
 (HPO:0000520) Proptosis 22184002 IBIS 192 / 7739
6
 (HPO:0000421) Epistaxis 21571465 IBIS 85 / 7739
7
 (HPO:0000458) Anosmia 21571465 IBIS 49 / 7739
8
 (HPO:0000174) Abnormality of the palate Rare [IBIS] 267888 IBIS 298 / 7739
9
 (HPO:0000492) Abnormality of the eyelid 8464207 IBIS 41 / 7739
10
 (HPO:0000502) Abnormality of the conjunctiva 8464207 IBIS 6 / 7739
11
 (HPO:0011482) Abnormality of the lacrimal gland 19861750 IBIS 2 / 7739
12
 (HPO:0000602) Ophthalmoplegia 22184002 IBIS 56 / 7739
13
 (HPO:0002832) Calcific stippling 17704307 IBIS 5 / 7739
14
 (HPO:0009098) Chronic oral candidiasis 25586447 IBIS 5 / 7739
15
 (HPO:0200044) Porokeratosis Rare [IBIS] 17397946 IBIS 11 / 7739
16
 (HPO:0012191) B-cell lymphoma Rare [IBIS] 17244928 IBIS 5 / 7739
17
 (HPO:0011034) Amyloidosis Very frqeuent [IBIS] 24693509 IBIS 12 / 7739
18
 (HPO:0002778) Abnormality of the trachea 21571465 IBIS 3 / 7739
19
 (HPO:0100721) Mediastinal lymphadenopathy Rare [IBIS] 17704307 IBIS 19 / 7739
20
 (IBIS) Nasal primary localized amyloidosis Rare [IBIS] 21571465 IBIS 2 / 7739
21
 (IBIS) Lacrimal gland primary localized amyloidosis Rare [IBIS] 19861750 IBIS 2 / 7739
22
 (IBIS) Duodenal primary localized amyloidosis Rare [IBIS] 17296522 IBIS 2 / 7739
23
 (MedDRA:10063945) Pulmonary amyloidosis Rare [IBIS] 17244928 IBIS 2 / 7739
24
 (MedDRA:10026865) Mass 22184002 IBIS 2 / 7739
25
 (IBIS) Oropharyngeal primary localized amyloidosis Rare [IBIS] 23978123 IBIS 2 / 7739
26
 (MedDRA:10036673) Primary amyloidosis 24693509 IBIS 3 / 7739
27
 (IBIS) Oral primary localized amyloidosis 25586447 IBIS 2 / 7739
28
 (HPO:0012716) Moderate conductive hearing impairment 21571465 IBIS 2 / 7739
29
 (IBIS) Pulmonary primary localized amyloidosis Rare [IBIS] 17244928 IBIS 2 / 7739
30
 (MedDRA:10030983) Oral lichen planus 25586447 IBIS 2 / 7739
31
 (IBIS) Orbital primary localized amyloidosis Rare [IBIS] 22184002 IBIS 2 / 7739
32
 (IBIS) Facial pain 21571465 IBIS 2 / 7739
33
 (IBIS) Nasopharyngeal primary localized amyloidosis Rare [IBIS] 23978123 IBIS 2 / 7739
34
 (IBIS) Urogenital primary localized amyloidosis Rare [IBIS] 24693509 IBIS 2 / 7739
35
 (IBIS) Stippled calcification in the right supraclavicular area and mediastinum 17704307 IBIS 2 / 7739
36
 (IBIS) Penile primary localized amyloidosis Rare [IBIS] 17645099 IBIS 2 / 7739
37
 (IBIS) Sublingual gland primary localized amyloidosis Rare [IBIS] 9745189 IBIS 1 / 7739
38
 (MedDRA:10007509) Cardiac amyloidosis Rare [IBIS] 17397946 IBIS 5 / 7739
39
 (IBIS) Ureteric primary localized amyloidosis Rare [IBIS] 22020852 IBIS 2 / 7739
40
 (IBIS) Thoracic primary localized amyloidosis Rare [IBIS] 17704307 IBIS 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
OSMR rs387906821 pathogenic RCV000023143.2
OSMR rs387906822 pathogenic RCV000023144.2
OSMR rs387906823 pathogenic RCV000023145.3
OSMR rs63750560 pathogenic RCV000008252.2
OSMR rs63750567 pathogenic RCV000008251.2

Additional Information: