MCID: AMY060
MIFTS: 32

Amyloidosis, Primary Localized Cutaneous, 1

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Amyloidosis, Primary Localized Cutaneous, 1

MalaCards integrated aliases for Amyloidosis, Primary Localized Cutaneous, 1:

Name: Amyloidosis, Primary Localized Cutaneous, 1 53 71 13
Familial Lichen Amyloidosis 71 69
Amyloidosis Ix 53 71
Plca1 53 71
Pca 53 71
Primary Localized Cutaneous Amyloidosis 1 28
Amyloidosis, Primary Cutaneous, 1; Pca1 53
Primary Localized Cutaneous Amyloidosis 71
Amyloidosis, Familial Cutaneous Lichen 53
Amyloidosis, Primary Cutaneous, 1 53
Amyloidosis, Primary Cutaneous 69
Primary Cutaneous Amyloidosis 71
Lichen Amyloidosis, Familial 53
Amyloidosis Type 9 71
Pca1 53
Plca 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
amyloidosis, primary localized cutaneous, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



Summaries for Amyloidosis, Primary Localized Cutaneous, 1

UniProtKB/Swiss-Prot : 71 Amyloidosis, primary localized cutaneous, 1: A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.

MalaCards based summary : Amyloidosis, Primary Localized Cutaneous, 1, also known as familial lichen amyloidosis, is related to posterior cortical atrophy and choanal atresia, posterior, and has symptoms including pruritus, amyloidosis and abnormality of the cranial nerves. An important gene associated with Amyloidosis, Primary Localized Cutaneous, 1 is OSMR (Oncostatin M Receptor). The drugs Flurbiprofen and Nalbuphine have been mentioned in the context of this disorder. Affiliated tissues include skin.

OMIM : 53 Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by Tanaka et al., 2009). (105250)

Related Diseases for Amyloidosis, Primary Localized Cutaneous, 1

Diseases in the Primary Cutaneous Amyloidosis family:

Amyloidosis, Primary Localized Cutaneous, 1 Amyloidosis, Primary Localized Cutaneous, 2

Diseases related to Amyloidosis, Primary Localized Cutaneous, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 posterior cortical atrophy 11.8
2 choanal atresia, posterior 10.9
3 primary cutaneous amyloidosis 10.9
4 prostatitis 10.4
5 prostate cancer 10.4
6 moyamoya disease 1 10.0
7 episodic pain syndrome, familial, 1 10.0
8 cerebritis 10.0
9 biliary cirrhosis, primary, 1 9.8
10 primary biliary cirrhosis 9.8
11 pleurisy 9.8
12 posterior cerebral artery infarction 9.8
13 neuronitis 9.8

Graphical network of the top 20 diseases related to Amyloidosis, Primary Localized Cutaneous, 1:



Diseases related to Amyloidosis, Primary Localized Cutaneous, 1

Symptoms & Phenotypes for Amyloidosis, Primary Localized Cutaneous, 1

Symptoms via clinical synopsis from OMIM:

53
Eyes:
lattice corneal dystrophy

Neuro:
cranial neuropathy
no peripheral neuropathy
no autonomic dysfunction

Lab:
localized amyloid deposition

Skin:
papular rash
pruritus
cutis laxa

Misc:
onset in third decade


Clinical features from OMIM:

105250

Human phenotypes related to Amyloidosis, Primary Localized Cutaneous, 1:

31
# Description HPO Frequency HPO Source Accession
1 pruritus 31 HP:0000989
2 amyloidosis 31 HP:0011034
3 abnormality of the cranial nerves 31 HP:0001291
4 cutis laxa 31 HP:0000973
5 lattice corneal dystrophy 31 HP:0001149

Drugs & Therapeutics for Amyloidosis, Primary Localized Cutaneous, 1

Drugs for Amyloidosis, Primary Localized Cutaneous, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Flurbiprofen Approved, Investigational 5104-49-4 3394
2
Nalbuphine Approved 20594-83-6 5311304 5360630
3 Ramosetron Approved, Investigational 132036-88-5
4
Sufentanil Approved, Investigational 56030-54-7 41693
5
Morphine Approved, Investigational 57-27-2 5288826
6 Adjuvants, Anesthesia
7 Analgesics
8 Analgesics, Non-Narcotic
9 Analgesics, Opioid
10 Anesthetics
11 Anesthetics, General
12 Anesthetics, Intravenous
13 Antiemetics
14 Anti-Inflammatory Agents
15 Anti-Inflammatory Agents, Non-Steroidal
16 Antirheumatic Agents
17 Autonomic Agents
18 Central Nervous System Depressants
19 Cyclooxygenase Inhibitors
20 Flurbiprofen axetil
21 Gastrointestinal Agents
22 Narcotic Antagonists
23 Narcotics
24 Neurotransmitter Agents
25 Peripheral Nervous System Agents
26
Serotonin 50-67-9 5202
27 Serotonin Agents
28 Serotonin Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pharmacokinetic Study for PCA Derivate Formulations Completed NCT00729729 Phase 4 PCA;PCA;PCA
2 Psilocybin-Assisted Psychotherapy for Anxiety in People With Stage IV Melanoma Withdrawn NCT00979693 Phase 2 psilocybin;psilocybin
3 Analgesia Effects of Nalbuphine vs Sulfentanil Unknown status NCT02604797 Nalbuphine;Sufentanil;flurbiprofen axetil;ramosetron
4 Safety and Efficacy of Patient Controlled Analgesia in the Emergency Department Completed NCT00910208 morphine

Search NIH Clinical Center for Amyloidosis, Primary Localized Cutaneous, 1

Genetic Tests for Amyloidosis, Primary Localized Cutaneous, 1

Genetic tests related to Amyloidosis, Primary Localized Cutaneous, 1:

# Genetic test Affiliating Genes
1 Primary Localized Cutaneous Amyloidosis 1 28 OSMR

Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 1

MalaCards organs/tissues related to Amyloidosis, Primary Localized Cutaneous, 1:

38
Skin

Publications for Amyloidosis, Primary Localized Cutaneous, 1

Articles related to Amyloidosis, Primary Localized Cutaneous, 1:

# Title Authors Year
1
Itch in familial lichen amyloidosis: effective treatment with amitriptyline in two cases. ( 24502303 )
2014

Variations for Amyloidosis, Primary Localized Cutaneous, 1

UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 1:

71
# Symbol AA change Variation ID SNP ID
1 OSMR p.Gly618Ala VAR_043513 rs63750560
2 OSMR p.Ile691Thr VAR_043514 rs63750567
3 OSMR p.Asp647Val VAR_065810 rs387906821
4 OSMR p.Pro694Leu VAR_065811 rs387906822
5 OSMR p.Lys697Thr VAR_065812 rs387906823

ClinVar genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OSMR NM_003999.2(OSMR): c.1940A> T (p.Asp647Val) single nucleotide variant Pathogenic rs387906821 GRCh37 Chromosome 5, 38924593: 38924593
2 OSMR NM_003999.2(OSMR): c.2081C> T (p.Pro694Leu) single nucleotide variant Pathogenic/Likely pathogenic rs387906822 GRCh37 Chromosome 5, 38925342: 38925342
3 OSMR NM_003999.2(OSMR): c.2090A> C (p.Lys697Thr) single nucleotide variant Pathogenic rs387906823 GRCh37 Chromosome 5, 38925351: 38925351
4 OSMR NM_003999.2(OSMR): c.2072T> C (p.Ile691Thr) single nucleotide variant Pathogenic rs63750567 GRCh37 Chromosome 5, 38925333: 38925333
5 OSMR NM_003999.2(OSMR): c.1853G> C (p.Gly618Ala) single nucleotide variant Pathogenic rs63750560 GRCh37 Chromosome 5, 38923339: 38923339

Expression for Amyloidosis, Primary Localized Cutaneous, 1

Search GEO for disease gene expression data for Amyloidosis, Primary Localized Cutaneous, 1.

Pathways for Amyloidosis, Primary Localized Cutaneous, 1

GO Terms for Amyloidosis, Primary Localized Cutaneous, 1

Sources for Amyloidosis, Primary Localized Cutaneous, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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