Amyloidosis, Primary Localized Cutaneous, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PLCA1 MCID: AMY060 MIFTS: 41	Amyloidosis, Primary Localized Cutaneous, 1 (PLCA1) Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Amyloidosis, Primary Localized Cutaneous, 1

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

Name: Amyloidosis, Primary Localized Cutaneous, 1 ⁵⁶ ⁷³ ¹³

Primary Localized Cutaneous Amyloidosis 1 ²⁹ ⁶

Primary Localized Cutaneous Amyloidosis ⁷³ ³⁶

Familial Lichen Amyloidosis ⁷³ ⁷¹

Amyloidosis Ix ⁵⁶ ⁷³

Plca1 ⁵⁶ ⁷³

Pca ⁵⁶ ⁷³

Amyloidosis, Primary Cutaneous, 1; Pca1 ⁵⁶

Amyloidosis, Familial Cutaneous Lichen ⁵⁶

Amyloidosis, Primary Cutaneous, 1 ⁵⁶

Amyloidosis, Primary Cutaneous ⁷¹

Primary Cutaneous Amyloidosis ⁷³

Lichen Amyloidosis, Familial ⁵⁶

Amyloidosis Type 9 ⁷³

Pca1 ⁵⁶

Plca ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
onset may occur in childhood
symptoms typically start with severe pruritus on the lower legs

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 105250

OMIM Phenotypic Series ⁵⁶ PS105250

KEGG ³⁶ H01217

MeSH ⁴³ D028226

MedGen ⁴¹ C0268397 C0268398 C4551501

SNOMED-CT via HPO ⁶⁸ 1192004 14411002 16386004 more

UMLS ⁷¹ C0268397 C0268398

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Summaries for Amyloidosis, Primary Localized Cutaneous, 1

UniProtKB/Swiss-Prot : ⁷³ 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 primary localized cutaneous amyloidosis 1, is related to lichen amyloidosis and amyloidosis. An important gene associated with Amyloidosis, Primary Localized Cutaneous, 1 is OSMR (Oncostatin M Receptor), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and JAK-STAT signaling pathway. The drugs Methylene blue and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and liver, and related phenotypes are dry skin and pruritus

OMIM : ⁵⁶ 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)

KEGG : ³⁶ Primary localized cutaneous amyloidosis (PLCA) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic forms of amyloidosis. Clinically, skin lesions comprise small, flat-top papules (lichen amyloidosis) or brown-gray macules (macular amyloidosis). PLCA is relatively common in South America and Asia, and some cases have an autosomal dominant family history (familial PLCA, FPLCA). The genetic basis of FPLCA involves mutations in the OSMR and IL31RA genes. Both belong to the family of interleukin (IL)-6 family cytokine receptors.

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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
Amyloidosis, Primary Localized Cutaneous, 3

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

(show top 50) (show all 215)

#	Related Disease	Score	Top Affiliating Genes
1	lichen amyloidosis	29.7	RET OSMR
2	amyloidosis	29.0	RET OSMR
3	posterior cortical atrophy	12.1
4	amyloidosis, primary localized cutaneous, 3	11.7
5	pigmentary disorder, reticulate, with systemic manifestations, x-linked	11.5
6	choanal atresia, posterior	11.4
7	primary cutaneous amyloidosis	11.2
8	pain agnosia	10.9
9	prostate cancer	10.4
10	pneumocystosis	10.3
11	macular amyloidosis	10.3
12	48,xyyy	10.3
13	scoliosis	10.2
14	aneurysm	10.2
15	listeriosis	10.2
16	allergic hypersensitivity disease	10.2
17	keratosis	10.1
18	alzheimer disease	10.1
19	prostatic hyperplasia, benign	10.1
20	mucositis	10.1
21	prostatic hypertrophy	10.1
22	prostatic adenoma	10.1
23	adenocarcinoma	10.1
24	ischemia	10.1
25	dowling-degos disease 1	10.1
26	pectus excavatum	10.1
27	moyamoya disease 1	10.1
28	apraxia	10.1
29	constipation	10.1
30	osteoarthritis	10.1
31	47,xyy	10.1
32	chronic pain	10.1
33	virus-associated trichodysplasia spinulosa	10.1
34	sarcoidosis 1	10.0
35	scleroderma, familial progressive	10.0
36	thyroid carcinoma	10.0
37	dermatitis, atopic	10.0
38	skin disease	10.0
39	esophageal cancer	10.0
40	motion sickness	10.0
41	lymphoma, hodgkin, classic	10.0
42	myopathy, myosin storage, autosomal recessive	10.0
43	arts syndrome	10.0
44	aging	10.0
45	sleep apnea	10.0
46	idiopathic scoliosis	10.0
47	cardiac arrest	10.0
48	thrombosis	10.0
49	pertussis	10.0
50	visual epilepsy	10.0

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

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Symptoms & Phenotypes for Amyloidosis, Primary Localized Cutaneous, 1

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

³¹ (show all 8)

#	Description	HPO Source Accession
1	dry skin ³¹	HP:0000958
2	pruritus ³¹	HP:0000989
3	abnormal cranial nerve morphology ³¹	HP:0001291
4	lichenification ³¹	HP:0100725
5	cutis laxa ³¹	HP:0000973
6	amyloidosis ³¹	HP:0011034
7	scaling skin ³¹	HP:0040189
8	lattice corneal dystrophy ³¹	HP:0001149

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skin Nails Hair Skin:
dry skin
pruritus
scaly skin
focal skin lichenification

Skin Nails Hair Skin Histology:
focal deposition of amyloid in dermal papillae
pigmentary incontinence
amorphous eosinophilic material in the papillary dermis
accentuated skin creases

Clinical features from OMIM:

105250

MGI Mouse Phenotypes related to Amyloidosis, Primary Localized Cutaneous, 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	no phenotypic analysis	MP:0003012	8.62	OSMR RET

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Drugs & Therapeutics for Amyloidosis, Primary Localized Cutaneous, 1

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

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Methylene blue

Approved, Investigational

61-73-4

Synonyms:

aniline violet

Azul de metileno

Basic Blue 9

C.I. basic blue 9

Chlorure de méthylthioninium

Cloruro de metiltioninio

Lowacryl blue 9

Methylene blue

Methylene blue anhydrous

Methylenium ceruleum

methylthionine chloride

Methylthioninii chloridum

methylthioninium chloride

Methylthioninium chloride

methylthioninium chloride Proveblue

Solvent blue 8

Swiss blue

tetrametylthionine chloride

Urolene Blue

Pharmaceutical Solutions

Interventional clinical trials:

#	Name	Status	NCT ID
1	Efficacy of 308-nm Excimer Laser for Primary Localized Cutaneous Amyloidosis Treatment in Asians: Pilot Study	Unknown status	NCT03068156
2	Efficacy of Methylene Blue Mediated Photodynamic Therapy for Primary Localized Cutaneous Amyloidosis Treatment in Asians: Pilot Study	Unknown status	NCT03068208
3	Application of High Resolution Optical Coherence Tomography in Skin Disease: Amyloidosis and Differential Diagnosis	Recruiting	NCT04068077
4	Blood Flow Measurement in Cervical and Cerebral Arteries Using Quantitative Magnetic Resonance Angiography and Cervical and Transcranial Duplex Sonography	Recruiting	NCT03591523

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

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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 ²⁹	OSMR

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Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 1

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

⁴⁰

Skin, Thyroid, Liver

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Publications for Amyloidosis, Primary Localized Cutaneous, 1

Articles related to Amyloidosis, Primary Localized Cutaneous, 1:

(show top 50) (show all 132)

#	Title	Authors	PMID	Year
1	Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. ⁶ ⁵⁶ ⁶¹	Arita K...McGrath JA	18179886	2008
2	Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. ⁶ ⁵⁶	Lin MW...Tsai SF	19690585	2010
3	New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis. ⁵⁶ ⁶¹	Tanaka A...McGrath JA	19663869	2009
4	RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia. ⁵⁴ ⁵⁶	Hofstra RM...Buys CH	8757765	1996
5	Genetic heterogeneity of familial primary cutaneous amyloidosis: lack of evidence for linkage with the chromosome 10 pericentromeric region in Chinese families. ⁵⁶ ⁵⁴	Lee DD...Tsai SF	8752835	1996
6	Genome-wide scan identifies a susceptibility locus for familial primary cutaneous amyloidosis on chromosome 5p13.1-q11.2. ⁵⁶	Lee DD...Tsai SF	17107390	2006
7	Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23. ⁵⁶	Lin MW...Tsai SF	15656797	2005
8	A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. ⁵⁶	Seri M...Romeo G	9111993	1997
9	Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis. ⁵⁶	Ceccherini I...Romeo G	7914213	1994
10	Familial primary cutaneous amyloidosis. ⁵⁶	Newton JA...McGibbon DH	3970841	1985
11	Familial lichen amyloidosis. ⁵⁶	Ozaki M	6724776	1984
12	Primary familial cutaneous amyloidosis. a study of HLA antigens in a Puerto Rican family. ⁵⁶	De Pietro WP	6945068	1981
13	Familial generalized dyschromic amyloidosis cutis. ⁵⁶	Eng AM...Blekys I	993396	1976
14	Familial lichen amyloidosis. Report of 19 cases in 4 generations of a Chinese family in Malaysia. ⁵⁶	Rajagopalan K...Tay CH	5057380	1972
15	Interscapular cutaneous amyloidosis. ⁵⁶	Shanon J...Sagher F	5430314	1970
16	Amyloidosis cutis. Familial occurrence in three generations. ⁵⁶	SAGHER F...SHANON J	13976058	1963
17	A comparative study of the efficacy of fractional neodymium-doped yttrium aluminum garnet (Nd:YAG) laser therapy alone and in combination with erbium:YAG laser therapy: tracing and objective measurement of melanin index in macular amyloidosis. ⁶¹	Nilforoushzadeh MA...Mahmoudbeyk M	31916020	2020
18	Efficacy of topical dimethyl sulfoxide (DMSO) 50% solution vs tretinoin 0.5% cream in treatment of patients with primary macular amyloidosis: A split-side single-blinded randomized clinical trial. ⁶¹	Saki N...Parvizi MM	32160368	2020
19	A novel oncostatin M/interleukin-31 receptor mutation in familial primary localized cutaneous amyloidosis. ⁶¹	Adams R...Patel GK	31478212	2020
20	A Rare Presentation of Nodular Amyloidosis on the Lower Back. ⁶¹	Dokic Y...Tschen J	31763087	2019
21	Sex differences of Chinese patients with primary localized cutaneous amyloidosis. ⁶¹	Lu P...Yang B	30740762	2019
22	Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis. ⁶¹	Lu P...Yang B	30734345	2019
23	Primary Localized Cutaneous Amyloidosis Affecting Female Individuals of a Pakistani Pedigree. ⁶¹	Bhoyrul B...Shanmugam S	30308545	2019
24	Interleukin-31-mediated photoablation of pruritogenic epidermal neurons reduces itch-associated behaviours in mice. ⁶¹	Nocchi L...Heppenstall PA	30944432	2019
25	Lichen amyloidosis successfully treated with fractional ablative laser CO2: A new alternative therapeutic. ⁶¹	Korbi M...Zili J	29400590	2019
26	Methotrexate for the Treatment of Recalcitrant Primary Localized Cutaneous Amyloidosis: A Case Series. ⁶¹	Stull CM...Yosipovitch G	29944169	2018
27	Comparative study of fractional CO2 laser and fractional CO2 laser-assisted drug delivery of topical steroid and topical vitamin C in macular amyloidosis. ⁶¹	Sobhi RM...Aref DHF	29480422	2018
28	An intensely pruritic pebbled presentation. ⁶¹	Soriano LF...Ekeowa-Anderson AL	29630157	2018
29	[Identification of pathogenic mutations in two Chinese families affected with primary localized cutaneous amyloidosis]. ⁶¹	Mao B...Zhao X	29419851	2018
30	Corrigendum to "Familial primary localized cutaneous amyloidosis in a Japanese family" [J. Dermatol. Sci. 83 (2016) 162-164]. ⁶¹	Ueo D...Fujiwara S	29146130	2018
31	Lichen amyloidosis of the scalp and forehead. ⁶¹	Kim Y...Chung CG	29447646	2017
32	Primary Localized Cutaneous Amyloidosis: A Systematic Treatment Review. ⁶¹	Weidner T...Elsner P	28342017	2017
33	An unusual presentation of primary cutaneous amyloidosis. ⁶¹	Garg T...Jain M	29469741	2017
34	Primary Cutaneous Amyloidosis: A Clinical, Histopathological and Immunofluorescence Study. ⁶¹	Mehrotra K...Dewan A	28969251	2017
35	Primary localized cutaneous amyloidosis with lichen and poikiloderma-like lesions and an excellent response to systemic acitretin. ⁶¹	Ma H...Lai W	27828646	2016
36	Familial primary localized cutaneous amyloidosis in a Japanese family. ⁶¹	Ueo D...Fujiwara S	27289340	2016
37	Interleukin-31 receptor and pruritus associated with primary localized cutaneous amyloidosis: reply from the authors. ⁶¹	Tey HL...Yosipovitch G	27312696	2016
38	Interleukin-31 receptor and pruritus associated with primary localized cutaneous amyloidosis. ⁶¹	He A...Kwatra SG	26941119	2016
39	Pathophysiology of pruritus in primary localized cutaneous amyloidosis. ⁶¹	Tey HL...Yosipovitch G	26748444	2016
40	[Primary localized cutaneous nodular amyloidosis: A diagnostic and therapeutic challenge]. ⁶¹	Gerard E...Beylot-Barry M	26724842	2016
41	Poikiloderma-like cutaneous amyloidosis--a rare presentation of primary localized cutaneous amyloidosis. ⁶¹	Heng JK...Tan KB	26990468	2016
42	Primary Localized Cutaneous Amyloidosis and Human Leukocyte Antigen A and -B in a Chinese Population. ⁶¹	Cao T...Tey HL	27072740	2016
43	Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR. ⁶¹	Wali A...Betz RC	25792357	2015
44	Nodular amyloidosis derived from keratinocytes: an unusual type of primary localized cutaneous nodular amyloidosis. ⁶¹	Cornejo KM...Deng A	26485243	2015
45	In vitro amyloidogenic peptides of galectin-7: possible mechanism of amyloidogenesis of primary localized cutaneous amyloidosis. ⁶¹	Ono K...Tajima S	25172508	2014
46	Primary localized cutaneous amyloidosis: a clinical diagnosis. ⁶¹	Gronhagen CM...Tey HL	25335358	2014
47	Primary localized cutaneous amyloidosis: association with atopic dermatitis. ⁶¹	Chia B...Tey HL	23489336	2014
48	Nodular primary localized cutaneous amyloidosis in a patient with pulmonary sarcoidosis. ⁶¹	Nakai N...Katoh N	24891674	2014
49	An alternative treatment model: the combination therapy of narrow band ultraviolet B phototherapy and tacrolimus ointment 0.1% in biphasic amyloidosis. ⁶¹	Kalkan G...Bas Y	25272550	2014
50	Detection of common mutations in sporadic primary localized cutaneous amyloidosis by DNA mass spectrometry. ⁶¹	Chang YT...Matsuura I	24237668	2014

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Genes for Amyloidosis, Primary Localized Cutaneous, 1

Genes related to Amyloidosis, Primary Localized Cutaneous, 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	OSMR	Oncostatin M Receptor	Protein Coding	1318.36	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	18179886 19690585
2	RET	Ret Proto-Oncogene	Protein Coding	5.51	Novoseek inferred ⁵⁴	8757765 8752835

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Variations for Amyloidosis, Primary Localized Cutaneous, 1

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

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	OSMR	NM_003999.3(OSMR):c.2090A>C (p.Lys697Thr)	SNV	Pathogenic	30222	rs387906823	5:38925351-38925351	5:38925249-38925249
2	OSMR	NM_003999.3(OSMR):c.1940A>T (p.Asp647Val)	SNV	Pathogenic	30220	rs387906821	5:38924593-38924593	5:38924491-38924491
3	OSMR	NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala)	SNV	Pathogenic	7809	rs63750560	5:38923339-38923339	5:38923237-38923237
4	OSMR	NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr)	SNV	Pathogenic	7808	rs63750567	5:38925333-38925333	5:38925231-38925231
5	OSMR	NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu)	SNV	Likely pathogenic	30221	rs387906822	5:38925342-38925342	5:38925240-38925240
6	OSMR	NM_003999.3(OSMR):c.1538G>A (p.Gly513Asp)	SNV	Uncertain significance	802119		5:38919117-38919117	5:38919015-38919015

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

⁷³

#	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

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Expression for Amyloidosis, Primary Localized Cutaneous, 1

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

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Pathways for Amyloidosis, Primary Localized Cutaneous, 1

Pathways related to Amyloidosis, Primary Localized Cutaneous, 1 according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Cytokine-cytokine receptor interaction	hsa04060
2	JAK-STAT signaling pathway	hsa04630

Pathways related to Amyloidosis, Primary Localized Cutaneous, 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cytokine Signaling in Immune system ⁶⁵ Show member pathways Signaling by Interleukins ⁶⁵	11.73	RET OSMR

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GO Terms for Amyloidosis, Primary Localized Cutaneous, 1

Cellular components related to Amyloidosis, Primary Localized Cutaneous, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	receptor complex	GO:0043235	8.62	RET OSMR

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Sources for Amyloidosis, Primary Localized Cutaneous, 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

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¹¹ DGIdb

¹² Disease Ontology

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁴ R&D Systems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Amyloidosis, Primary Localized Cutaneous, 1 (PLCA1)

Aliases & Classifications for Amyloidosis, Primary Localized Cutaneous, 1

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Amyloidosis, Primary Localized Cutaneous, 1

Related Diseases for Amyloidosis, Primary Localized Cutaneous, 1

Diseases in the Primary Cutaneous Amyloidosis family:

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

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

Symptoms & Phenotypes for Amyloidosis, Primary Localized Cutaneous, 1

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Amyloidosis, Primary Localized Cutaneous, 1:

Drugs & Therapeutics for Amyloidosis, Primary Localized Cutaneous, 1

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

Interventional clinical trials:

Genetic Tests for Amyloidosis, Primary Localized Cutaneous, 1

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

Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 1

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

Publications for Amyloidosis, Primary Localized Cutaneous, 1

Articles related to Amyloidosis, Primary Localized Cutaneous, 1:

Genes for Amyloidosis, Primary Localized Cutaneous, 1

Genes related to Amyloidosis, Primary Localized Cutaneous, 1 (1 elite genes):

Variations for Amyloidosis, Primary Localized Cutaneous, 1

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

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

Expression for Amyloidosis, Primary Localized Cutaneous, 1

Pathways for Amyloidosis, Primary Localized Cutaneous, 1

Pathways related to Amyloidosis, Primary Localized Cutaneous, 1 according to KEGG:

Pathways related to Amyloidosis, Primary Localized Cutaneous, 1 according to GeneCards Suite gene sharing:

GO Terms for Amyloidosis, Primary Localized Cutaneous, 1

Cellular components related to Amyloidosis, Primary Localized Cutaneous, 1 according to GeneCards Suite gene sharing:

Sources for Amyloidosis, Primary Localized Cutaneous, 1