MCID: AMY060
MIFTS: 28

Amyloidosis, Primary Localized Cutaneous, 1

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

Aliases & Classifications for Amyloidosis, Primary Localized Cutaneous, 1

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

Name: Amyloidosis, Primary Localized Cutaneous, 1 54 71 13
Familial Lichen Amyloidosis 71 69
Amyloidosis Ix 24 71
Plca1 24 71
Amyloidosis, Primary Localized Cutaneous 1 24
Primary Localized Cutaneous Amyloidosis 1 29
Primary Localized Cutaneous Amyloidosis 71
Amyloidosis, Primary Cutaneous 69
Primary Cutaneous Amyloidosis 71
Lichen Amyloidosis, Familial 24
Amyloidosis Type 9 71
Plca 71
Pca 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
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 primary cutaneous amyloidosis, and has symptoms including pruritus, lattice corneal dystrophy and cutis laxa. An important gene associated with Amyloidosis, Primary Localized Cutaneous, 1 is OSMR (Oncostatin M Receptor). The drugs Morphine and Flurbiprofen have been mentioned in the context of this disorder. Affiliated tissues include skin.

OMIM : 54
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:

id Related Disease Score Top Affiliating Genes
1 posterior cortical atrophy 11.7
2 primary cutaneous amyloidosis 11.0
3 choanal atresia, posterior 10.8
4 amyloidosis 9.7
5 lichen amyloidosis 9.7

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:

54

Lab:
localized amyloid deposition

Neuro:
no autonomic dysfunction
no peripheral neuropathy
cranial neuropathy

Eyes:
lattice corneal dystrophy

Misc:
onset in third decade

Skin:
cutis laxa
pruritus
papular rash


Clinical features from OMIM:

105250

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

32
id Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 lattice corneal dystrophy 32 HP:0001149
3 cutis laxa 32 HP:0000973
4 amyloidosis 32 HP:0011034
5 abnormality of the cranial nerves 32 HP:0001291

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

Interventional clinical trials:


id 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 Safety and Efficacy of Patient Controlled Analgesia in the Emergency Department Completed NCT00910208 morphine
4 Analgesia Effects of Nalbuphine vs Sulfentanil Not yet recruiting NCT02604797 Nalbuphine;Sufentanil;flurbiprofen axetil;ramosetron

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:

id Genetic test Affiliating Genes
1 Primary Localized Cutaneous Amyloidosis 1 29
2 Amyloidosis, Primary Localized Cutaneous 1 24 OSMR

Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 1

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

39
Skin

Publications for Amyloidosis, Primary Localized Cutaneous, 1

Variations for Amyloidosis, Primary Localized Cutaneous, 1

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 OSMR NM_003999.2(OSMR): c.2072T> C (p.Ile691Thr) single nucleotide variant Pathogenic rs63750567 GRCh37 Chromosome 5, 38925333: 38925333
2 OSMR NM_003999.2(OSMR): c.1853G> C (p.Gly618Ala) single nucleotide variant Pathogenic rs63750560 GRCh37 Chromosome 5, 38923339: 38923339
3 OSMR NM_003999.2(OSMR): c.1940A> T (p.Asp647Val) single nucleotide variant Pathogenic rs387906821 GRCh37 Chromosome 5, 38924593: 38924593
4 OSMR NM_003999.2(OSMR): c.2081C> T (p.Pro694Leu) single nucleotide variant Pathogenic/Likely pathogenic rs387906822 GRCh37 Chromosome 5, 38925342: 38925342
5 OSMR NM_003999.2(OSMR): c.2090A> C (p.Lys697Thr) single nucleotide variant Pathogenic rs387906823 GRCh37 Chromosome 5, 38925351: 38925351

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

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7 CNVD
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10 dbSNP
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16 ExPASy
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70 UMLS via Orphanet
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