MCID: AMY111
MIFTS: 24

Amyloidosis, Primary Localized Cutaneous, 3

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

Aliases & Classifications for Amyloidosis, Primary Localized Cutaneous, 3

MalaCards integrated aliases for Amyloidosis, Primary Localized Cutaneous, 3:

Name: Amyloidosis, Primary Localized Cutaneous, 3 57 6
Amyloidosis Cutis Dyschromica; Acd 57
Amyloidosis Cutis Dyschromica 57
Plca3 57
Acd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first decade of life
dyschromia increases and spreads initially then stabilizes
relative sparing of face and neck


Classifications:



External Ids:

OMIM 57 617920

Summaries for Amyloidosis, Primary Localized Cutaneous, 3

OMIM : 57 Amyloidosis cutis dyschromica (ACD), a rare form of primary localized cutaneous amyloidosis, is a pigmentary disorder in which keratinocyte-derived amyloid is deposited in the skin. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. ACD can be distinguished from other conditions with similar clinical findings by a skin biopsy in which amyloid deposition in the papillary dermis is seen. Specific features that set ACD apart from the more common macular and lichenoid variants of primary cutaneous amyloidosis include dotted, reticular, or diffuse hyperpigmentation admixed with lentil-sized hypopigmented macules; mild or no associated pruritus; and, on histologic examination of skin from both hyper- and hypopigmented lesions, amyloid deposition confined to the papillary dermis, in close proximity to the epidermis (Huang et al. (2009); Mahon et al., 2016). For a discussion of genetic heterogeneity of primary localized cutaneous amyloidosis, see 105250. (617920)

MalaCards based summary : Amyloidosis, Primary Localized Cutaneous, 3, also known as amyloidosis cutis dyschromica; acd, is related to alveolar capillary dysplasia with misalignment of pulmonary veins and dyskeratosis congenita, autosomal dominant 6. An important gene associated with Amyloidosis, Primary Localized Cutaneous, 3 is GPNMB (Glycoprotein Nmb). Affiliated tissues include skin and neutrophil.

Related Diseases for Amyloidosis, Primary Localized Cutaneous, 3

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, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 alveolar capillary dysplasia with misalignment of pulmonary veins 11.8
2 dyskeratosis congenita, autosomal dominant 6 11.8
3 alopecia-contractures-dwarfism mental retardation syndrome 11.7
4 alopecia-contractures-dwarfism-intellectual disability syndrome 11.7
5 dyskeratosis congenita 11.7
6 amyloidosis cutis dyschromia 11.7
7 alveolar capillary dysplasia 11.5
8 melanoma, cutaneous malignant 1 11.2
9 allergic contact dermatitis 11.2
10 dyskeratosis congenita autosomal dominant 11.1
11 dyskeratosis congenita autosomal recessive 11.1
12 corneal dystrophy, avellino type 11.0
13 corneal dystrophy, reis-bucklers type 11.0
14 corneal dystrophy, congenital stromal 11.0
15 acrofacial dysostosis, catania type 10.9
16 acute cholinergic dysautonomia 10.9
17 campomelic dysplasia 10.9
18 amyloidosis 10.5
19 familial mediterranean fever 10.1
20 primary cutaneous amyloidosis 10.1
21 brucellosis 10.1
22 hereditary amyloidosis 10.1
23 spasticity 10.1
24 dermatitis 9.9
25 contact dermatitis 9.9
26 renal cell carcinoma, nonpapillary 9.8
27 rheumatoid arthritis 9.8
28 glucocorticoid deficiency 1 9.8
29 alopecia 9.8
30 arthritis 9.8
31 leukemia 9.8
32 melanoma 9.8
33 spondylosis 9.8
34 cervicitis 9.8
35 dwarfism 9.8
36 acquired cystic disease-associated renal cell carcinoma 9.8

Graphical network of the top 20 diseases related to Amyloidosis, Primary Localized Cutaneous, 3:



Diseases related to Amyloidosis, Primary Localized Cutaneous, 3

Symptoms & Phenotypes for Amyloidosis, Primary Localized Cutaneous, 3

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperpigmented macules
hypopigmented macules
few pruritic papules
pruritis, mild
dry skin
more
Skin Nails Hair Skin Electron Microscopy:
fibrillar aggregates near epidermal-dermal junction of hyperpigmented lesions
fibrillar aggregates in borders of hypo- and depigmented lesions

Skin Nails Hair Skin Histology:
amorphous eosinophilic material in papillary dermis
increased melanin in basal layer
amyloid deposits enriched in hyperpigmented lesions
elongated ridges surrounding hyperpigmented lesions
infiltration of immune cells around hyperpigmented lesions
more

Clinical features from OMIM:

617920

Drugs & Therapeutics for Amyloidosis, Primary Localized Cutaneous, 3

Search Clinical Trials , NIH Clinical Center for Amyloidosis, Primary Localized Cutaneous, 3

Genetic Tests for Amyloidosis, Primary Localized Cutaneous, 3

Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 3

MalaCards organs/tissues related to Amyloidosis, Primary Localized Cutaneous, 3:

41
Skin, Neutrophil

Publications for Amyloidosis, Primary Localized Cutaneous, 3

Articles related to Amyloidosis, Primary Localized Cutaneous, 3:

# Title Authors Year
1
Association of amyloidosis cutis dyschromica and familial Mediterranean fever. ( 29267436 )
2017
2
Amyloidosis cutis dyschromica in two siblings and review of the epidemiology, clinical features and management in 48 cases. ( 25866143 )
2015
3
Familial amyloidosis cutis dyschromica in three siblings: report from indonesia. ( 25386328 )
2014
4
Amyloidosis cutis dyschromica. ( 24350022 )
2013
5
Amyloidosis cutis dyschromica. ( 23234252 )
2012
6
Amyloidosis cutis dyschromica associated with atypical Parkinsonism, spasticity and motor weakness in a Pakistani female. ( 21645034 )
2011
7
A rare type of primary cutaneous amyloidosis: amyloidosis cutis dyschromica. ( 21091677 )
2010

Variations for Amyloidosis, Primary Localized Cutaneous, 3

ClinVar genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 3:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPNMB NM_002510.2(GPNMB): c.565C> T (p.Arg189Ter) single nucleotide variant Pathogenic rs140352180 GRCh37 Chromosome 7, 23299622: 23299622
2 GPNMB NM_002510.2(GPNMB): c.565C> T (p.Arg189Ter) single nucleotide variant Pathogenic rs140352180 GRCh38 Chromosome 7, 23260003: 23260003
3 GPNMB NM_002510.2(GPNMB): c.660T> G (p.Tyr220Ter) single nucleotide variant Pathogenic rs770211260 GRCh37 Chromosome 7, 23299717: 23299717
4 GPNMB NM_002510.2(GPNMB): c.660T> G (p.Tyr220Ter) single nucleotide variant Pathogenic rs770211260 GRCh38 Chromosome 7, 23260098: 23260098
5 GPNMB NM_002510.2(GPNMB): c.1056delT (p.Pro353Leufs) deletion Pathogenic GRCh37 Chromosome 7, 23306173: 23306173
6 GPNMB NM_002510.2(GPNMB): c.1056delT (p.Pro353Leufs) deletion Pathogenic GRCh38 Chromosome 7, 23266554: 23266554
7 GPNMB NM_002510.2(GPNMB): c.296delA (p.Asn99Thrfs) deletion Pathogenic GRCh38 Chromosome 7, 23254241: 23254241
8 GPNMB NM_002510.2(GPNMB): c.296delA (p.Asn99Thrfs) deletion Pathogenic GRCh37 Chromosome 7, 23293860: 23293860
9 GPNMB NM_002510.2(GPNMB): c.719_720delTG (p.Val240Aspfs) deletion Pathogenic GRCh38 Chromosome 7, 23260474: 23260475
10 GPNMB NM_002510.2(GPNMB): c.719_720delTG (p.Val240Aspfs) deletion Pathogenic GRCh37 Chromosome 7, 23300093: 23300094
11 GPNMB NM_002510.2(GPNMB): c.877_880delGTTT (p.Val293Profs) deletion Pathogenic rs773435101 GRCh37 Chromosome 7, 23300251: 23300254
12 GPNMB NM_002510.2(GPNMB): c.877_880delGTTT (p.Val293Profs) deletion Pathogenic rs773435101 GRCh38 Chromosome 7, 23260632: 23260635

Expression for Amyloidosis, Primary Localized Cutaneous, 3

Search GEO for disease gene expression data for Amyloidosis, Primary Localized Cutaneous, 3.

Pathways for Amyloidosis, Primary Localized Cutaneous, 3

GO Terms for Amyloidosis, Primary Localized Cutaneous, 3

Sources for Amyloidosis, Primary Localized Cutaneous, 3

3 CDC
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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