MCID: DYS022
MIFTS: 49

Dyschromatosis Symmetrica Hereditaria

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dyschromatosis Symmetrica Hereditaria

MalaCards integrated aliases for Dyschromatosis Symmetrica Hereditaria:

Name: Dyschromatosis Symmetrica Hereditaria 53 12 49 55 71 36 13 51 14
Dyschromatosis Symmetrica Hereditaria 1 53 49 71 41
Reticulate Acropigmentation of Dohi 53 12 49 71
Symmetric Dyschromatosis of the Extremities 53 49 71
Dsh1 53 49 71
Dsh 53 49 71
Dyschromatosis Symmetrica Hereditaria 1; Dsh1 53
Familial Reticulate Acropigmentation of Dohi 49
Symmetrical Dyschromatosis of Extremities 69
Reticulate Acropigmentation of Dohi; Rad 53
Acropigmentation of Dohi 55
Rad 53

Characteristics:

Orphanet epidemiological data:

55
dyschromatosis symmetrica hereditaria
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy and early childhood
new skin lesions stop appearing before adolescence
majority of cases in japan


HPO:

31
dyschromatosis symmetrica hereditaria:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

OMIM 53 127400
Disease Ontology 12 DOID:0060257
NCIt 46 C118435
SNOMED-CT 64 239085000
Orphanet 55 ORPHA41
UMLS via Orphanet 70 C0406775
MESH via Orphanet 42 C535729
ICD10 via Orphanet 33 L81.8
MedGen 39 C0406775
KEGG 36 H00880
UMLS 69 C0406775

Summaries for Dyschromatosis Symmetrica Hereditaria

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 41Disease definitionAcropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.Clinical descriptionThe first manifestations of the disease generally appear during early childhood.EtiologyA mutation has been identified in the double-stranded RNA-specific adenosine deaminase (ADAR) gene.Genetic counselingTransmission is autosomal dominant.Visit the Orphanet disease page for more resources. Last updated: 6/25/2006

MalaCards based summary : Dyschromatosis Symmetrica Hereditaria, also known as dyschromatosis symmetrica hereditaria 1, is related to dyschromatosis universalis hereditaria 3 and dyschromatosis universalis hereditaria, and has symptoms including macule, torsion dystonia and macular hypopigmentation. An important gene associated with Dyschromatosis Symmetrica Hereditaria is ADAR (Adenosine Deaminase, RNA Specific), and among its related pathways/superpathways are Cytosolic DNA-sensing pathway and Pyrimidine metabolism (KEGG). Affiliated tissues include skin and testes, and related phenotypes are growth/size/body region and homeostasis/metabolism

Disease Ontology : 12 A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.

OMIM : 53 Dyschromatosis symmetrica hereditaria (DSH), also called symmetric dyschromatosis of the extremities and symmetric or reticulate acropigmentation of Dohi (Komaya, 1924), is characterized by hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities that appear in infancy or early childhood. DSH generally shows an autosomal dominant pattern of inheritance with high penetrance. The condition has been reported predominantly in Japanese and Chinese individuals. (127400)

UniProtKB/Swiss-Prot : 71 Dyschromatosis symmetrica hereditaria: An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal parts of the hands and feet, that appear in infancy or early childhood.

Related Diseases for Dyschromatosis Symmetrica Hereditaria

Diseases related to Dyschromatosis Symmetrica Hereditaria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 dyschromatosis universalis hereditaria 3 33.5 ABCB6 ADAR
2 dyschromatosis universalis hereditaria 30.0 ABCB6 ADAR DUH1 XPC
3 oppositional defiant disorder 11.0
4 early onset absence epilepsy 10.4 ADA ADAR
5 dystonia 10.4
6 alk-negative anaplastic large cell lymphoma 10.4 ADA ADARB1
7 ectomesenchymoma 10.3 HRAS PAX3
8 xeroderma pigmentosum, variant type 10.3
9 hemangioma 10.3
10 cutaneous lupus erythematosus 10.3
11 viral encephalitis 10.3
12 hyperthyroidism 10.3
13 lupus erythematosus 10.3
14 encephalitis 10.3
15 central nervous system melanocytic neoplasm 10.2 HRAS TYR YARS
16 tyrosinase-like 10.2 TYR TYRP1
17 dowling-degos disease 10.2 ADAR PKLR TYR
18 albinism, oculocutaneous, type ii 10.1 OCA2 TYRP1
19 waardenburg syndrome, type 2e 10.1 MITF SOX10
20 melanocytic nevus syndrome, congenital 10.1 HRAS TYR
21 skin/hair/eye pigmentation, variation in, 3 10.1 MITF TYR
22 albinism, ocular, with sensorineural deafness 10.1 MITF TYR
23 amelanotic melanoma 10.1 TYR TYRP1
24 vulvar melanoma 10.0 HRAS TYR
25 chediak-higashi syndrome 10.0 LYST TYR TYRP1
26 pigmented basal cell carcinoma 10.0 MITF TYR
27 epithelioid cell melanoma 10.0 MITF TYR
28 pycnodysostosis 10.0 HRAS MITF
29 malignant spindle cell melanoma 9.9 MITF SOX10 TYR
30 breast angiosarcoma 9.9 MITF SOX10 TYR
31 oculocutaneous albinism 9.9 OCA2 TYR TYRP1
32 integumentary system cancer 9.9 HRAS MITF TYR
33 leukemia 9.9
34 small cell sarcoma 9.9 PAX3 SOX10
35 pigmentation disease 9.8 ADA ADAR MITF TYR
36 cell type cancer 9.8 HRAS MITF TYR
37 waardenburg syndrome type 4 9.8 EDN3 MITF SOX10
38 waardenburg syndrome, type 4a 9.8 EDN3 MITF SOX10
39 colorectal cancer 9.8
40 diabetes mellitus, noninsulin-dependent 9.8
41 ataxia and polyneuropathy, adult-onset 9.8
42 ductal carcinoma in situ 9.8
43 prostatitis 9.8
44 ocular albinism 9.8 MITF OCA2 TYR
45 melanoma, cutaneous malignant 1 9.8 HRAS MITF TYRP1
46 dowling-degos disease 1 9.8 MITF TYR TYRP1
47 hermansky-pudlak syndrome 3 9.8 MITF TYR TYRP1
48 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7 MITF TYR TYRP1
49 amyotrophic lateral sclerosis 1 9.7
50 blood group, i system 9.7

Graphical network of the top 20 diseases related to Dyschromatosis Symmetrica Hereditaria:



Diseases related to Dyschromatosis Symmetrica Hereditaria

Symptoms & Phenotypes for Dyschromatosis Symmetrica Hereditaria

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
hyperpigmented/hypopigmented macules (dorsum hands and feet, face)


Clinical features from OMIM:

127400

Human phenotypes related to Dyschromatosis Symmetrica Hereditaria:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macule 55 31 hallmark (90%) Very frequent (99-80%) HP:0012733
2 torsion dystonia 55 31 frequent (33%) Frequent (79-30%) HP:0001304
3 macular hypopigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007988
4 macular hyperpigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0011509
5 hyperpigmented/hypopigmented macules 31 HP:0007441

MGI Mouse Phenotypes related to Dyschromatosis Symmetrica Hereditaria:

43 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 YARS ADA HRAS ADAR LYST ADARB1
2 homeostasis/metabolism MP:0005376 10.37 YARS ADA HRAS ADAR LYST ABCB6
3 mortality/aging MP:0010768 10.36 YARS ADAR LYST ADARB1 EDN3 ABCB6
4 behavior/neurological MP:0005386 10.35 XPC HRAS LYST ADARB1 EDN3 MITF
5 cellular MP:0005384 10.35 XPC ADA ADAR LYST ABCB6 MITF
6 integument MP:0010771 10.26 ADAR LYST EDN3 ABCB6 HRAS PAX3
7 embryo MP:0005380 10.15 YARS ADA ADAR EDN3 MITF PAX3
8 nervous system MP:0003631 10.15 XPC HRAS ADAR LYST ADARB1 EDN3
9 endocrine/exocrine gland MP:0005379 10.14 ADA HRAS OCA2 MITF PAX3 LYST
10 craniofacial MP:0005382 10.1 HRAS LYST MITF PAX3 OCA2 TYRP1
11 hearing/vestibular/ear MP:0005377 9.99 LYST MITF PAX3 OCA2 TYRP1 TYR
12 normal MP:0002873 9.96 ADA HRAS ADARB1 MITF PAX3 OCA2
13 neoplasm MP:0002006 9.95 XPC HRAS LYST PAX3 SOX10 TYRP1
14 limbs/digits/tail MP:0005371 9.93 MITF PAX3 LYST OCA2 TYR SOX10
15 no phenotypic analysis MP:0003012 9.87 HRAS ADARB1 MITF PAX3 LYST OCA2
16 pigmentation MP:0001186 9.76 LYST EDN3 PAX3 OCA2 MITF TYRP1
17 skeleton MP:0005390 9.56 ADA HRAS ADAR MITF PAX3 OCA2
18 vision/eye MP:0005391 9.23 XPC LYST MITF PAX3 OCA2 TOR1A

Drugs & Therapeutics for Dyschromatosis Symmetrica Hereditaria

Search Clinical Trials , NIH Clinical Center for Dyschromatosis Symmetrica Hereditaria

Cochrane evidence based reviews: dyschromatosis symmetrica hereditaria 1

Genetic Tests for Dyschromatosis Symmetrica Hereditaria

Anatomical Context for Dyschromatosis Symmetrica Hereditaria

MalaCards organs/tissues related to Dyschromatosis Symmetrica Hereditaria:

38
Skin, Testes

Publications for Dyschromatosis Symmetrica Hereditaria

Articles related to Dyschromatosis Symmetrica Hereditaria:

(show top 50) (show all 78)
# Title Authors Year
1
Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria. ( 29185800 )
2018
2
Sunlight is merely a temporary modifier of dyschromatosis symmetrica hereditaria. ( 29400290 )
2018
3
A novel frameshift mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria and the dermoscopic features. ( 28502110 )
2017
4
Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism. ( 28496371 )
2017
5
Ultrastructural study of dyschromatosis symmetrica hereditaria with widespread pigmentary eruption. ( 28370262 )
2017
6
A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review. ( 29321362 )
2017
7
Pathogenicity of ADAR1 mutation in a Chinese family with dyschromatosis symmetrica hereditaria. ( 28502085 )
2017
8
A novel splice site mutation in the ADAR gene leading to exon skipping and dyschromatosis symmetrica hereditaria in a Japanese patient. ( 27747905 )
2016
9
Novel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. ( 27230815 )
2016
10
Dyschromatosis symmetrica hereditaria complicated by intracranial hemangiomas and Parry-Romberg syndrome. ( 27040761 )
2016
11
[Two novel mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria]. ( 27060309 )
2016
12
Novel de novo heterozygous frameshift mutation of the ADAR1 gene in heavy dyschromatosis symmetrica hereditaria. ( 27814417 )
2016
13
Dyschromatosis Symmetrica Hereditaria and Aicardi-GoutiA"res Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. ( 26802932 )
2016
14
Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene. ( 26892242 )
2016
15
Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria successfully treated with fractional CO2 laser. ( 25763870 )
2015
16
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene. ( 25982145 )
2015
17
[Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria]. ( 26037352 )
2015
18
A novel missense mutation in ADAR1 gene causing dyschromatosis symmetrica hereditaria in a Chinese patient. ( 25900931 )
2015
19
Dyschromatosis symmetrica hereditaria with neurological abnormalities. ( 25382520 )
2014
20
A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria. ( 25189252 )
2014
21
A frameshift mutation in the ADAR gene in a Korean family with dyschromatosis symmetrica hereditaria. ( 25468572 )
2014
22
Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families. ( 23621649 )
2014
23
Dyschromatosis symmetrica hereditaria of late onset? ( 24826352 )
2014
24
A novel nonsense mutation of ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria. ( 24673593 )
2014
25
Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. ( 24950769 )
2014
26
Mutation analysis of the ADAR1 gene in a Chinese Family with dyschromatosis symmetrica hereditaria. ( 24433377 )
2014
27
Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link? ( 24261734 )
2013
28
Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. ( 23315877 )
2013
29
Patient with dyschromatosis symmetrica hereditaria treated with miniature punch grafting, followed by excimer light therapy. ( 23803141 )
2013
30
What is the novel clinical finding in dyschromatosis symmetrica hereditaria? ( 22974199 )
2013
31
A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria. ( 24065641 )
2013
32
Two novel mutations in the DSRAD gene in two Chinese pedigrees with dyschromatosis symmetrica hereditaria. ( 24446047 )
2013
33
The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria. ( 23621630 )
2013
34
Dyschromatosis symmetrica hereditaria. ( 22974014 )
2013
35
Two novel frameshift mutations of the DSRAD gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria. ( 22039911 )
2012
36
Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria. ( 23336285 )
2012
37
Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. ( 23075647 )
2012
38
Novel clinical and molecular findings in Chinese families with dyschromatosis symmetrica hereditaria. ( 22077581 )
2012
39
Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria. ( 22336994 )
2012
40
A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 22843049 )
2012
41
Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: report of a novel ADAR1 mutation. ( 22821605 )
2012
42
Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. ( 21933234 )
2011
43
Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH). ( 20412337 )
2011
44
A novel complex insertion-deletion mutation in ADAR1 gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 20586835 )
2011
45
Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria. ( 20069304 )
2010
46
Identification of a novel mutation in the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 20708476 )
2010
47
Two new mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. ( 20300939 )
2010
48
Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. ( 21083709 )
2010
49
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene. ( 20439151 )
2010
50
Four novel and two recurrent mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. ( 20430589 )
2010

Variations for Dyschromatosis Symmetrica Hereditaria

UniProtKB/Swiss-Prot genetic disease variations for Dyschromatosis Symmetrica Hereditaria:

71
# Symbol AA change Variation ID SNP ID
1 ADAR p.Leu923Pro VAR_017604 rs28936680
2 ADAR p.Phe1165Ser VAR_017605 rs28936681
3 ADAR p.Cys966Phe VAR_021729
4 ADAR p.Arg1155Trp VAR_026669 rs1044845711Dyschromatosis

ClinVar genetic disease variations for Dyschromatosis Symmetrica Hereditaria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAR NM_001025107.2(ADAR): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs121912421 GRCh37 Chromosome 1, 154573698: 154573698
2 ADAR NM_001025107.2(ADAR): c.1883T> C (p.Leu628Pro) single nucleotide variant Pathogenic rs28936680 GRCh37 Chromosome 1, 154561144: 154561144
3 ADAR NM_001025107.2(ADAR): c.1969A> T (p.Lys657Ter) single nucleotide variant Pathogenic rs121912422 GRCh37 Chromosome 1, 154561058: 154561058
4 ADAR NM_001025107.2(ADAR): c.2609T> C (p.Phe870Ser) single nucleotide variant Pathogenic rs28936681 GRCh37 Chromosome 1, 154557469: 154557469
5 ADAR NM_001025107.2(ADAR): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs121912423 GRCh37 Chromosome 1, 154569601: 154569601
6 ADAR NM_001025107.2(ADAR): c.56_57delCT (p.Ser19Cysfs) deletion Pathogenic rs387906541 GRCh37 Chromosome 1, 154574176: 154574177
7 ADAR NM_001111.4(ADAR): c.3019G> A (p.Gly1007Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398122822 GRCh37 Chromosome 1, 154560601: 154560601
8 ADAR NM_001111.4(ADAR): c.2130dupC (p.Asn711Glnfs) duplication Pathogenic rs886044895 GRCh37 Chromosome 1, 154569421: 154569421

Expression for Dyschromatosis Symmetrica Hereditaria

Search GEO for disease gene expression data for Dyschromatosis Symmetrica Hereditaria.

Pathways for Dyschromatosis Symmetrica Hereditaria

Pathways related to Dyschromatosis Symmetrica Hereditaria according to KEGG:

36
# Name Kegg Source Accession
1 Cytosolic DNA-sensing pathway hsa04623

GO Terms for Dyschromatosis Symmetrica Hereditaria

Cellular components related to Dyschromatosis Symmetrica Hereditaria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.8 OCA2 TYR TYRP1

Biological processes related to Dyschromatosis Symmetrica Hereditaria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of viral genome replication GO:0045070 9.48 ADAR ADARB1
2 positive regulation of heart rate GO:0010460 9.46 ADA EDN3
3 melanosome organization GO:0032438 9.43 LYST TYRP1
4 defense response to protozoan GO:0042832 9.4 HRAS LYST
5 negative regulation of protein kinase activity by regulation of protein phosphorylation GO:0044387 9.37 ADAR ADARB1
6 melanin biosynthetic process GO:0042438 9.33 OCA2 TYR TYRP1
7 adenosine to inosine editing GO:0006382 9.32 ADAR ADARB1
8 eye pigment biosynthetic process GO:0006726 9.26 OCA2 TYR
9 melanocyte differentiation GO:0030318 9.26 MITF OCA2 SOX10 TYRP1
10 pigmentation GO:0043473 9.02 LYST MITF OCA2 TYR TYRP1

Molecular functions related to Dyschromatosis Symmetrica Hereditaria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 double-stranded RNA adenosine deaminase activity GO:0003726 8.96 ADAR ADARB1
2 adenosine deaminase activity GO:0004000 8.8 ADA ADAR ADARB1

Sources for Dyschromatosis Symmetrica Hereditaria

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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