MCID: DYS022
MIFTS: 46

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 54 12 50 56 71 13 52 14
Dyschromatosis Symmetrica Hereditaria 1 50 24 71 42
Reticulate Acropigmentation of Dohi 12 50 24 71
Symmetric Dyschromatosis of the Extremities 50 24 71
Dsh1 50 24 71
Dsh 50 71
Familial Reticulate Acropigmentation of Dohi 50
Symmetrical Dyschromatosis of Extremities 69
Acropigmentation of Dohi 56

Characteristics:

Orphanet epidemiological data:

56
dyschromatosis symmetrica hereditaria
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

54
Miscellaneous:
majority of cases in japan
new skin lesions stop appearing before adolescence
onset in infancy and early childhood

Inheritance:
autosomal dominant


HPO:

32
dyschromatosis symmetrica hereditaria:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 127400
Disease Ontology 12 DOID:0060257
NCIt 47 C118435
SNOMED-CT 64 239085000
Orphanet 56 ORPHA41
UMLS via Orphanet 70 C0406775
MESH via Orphanet 43 C535729
ICD10 via Orphanet 34 L81.8
MedGen 40 C0406775
UMLS 69 C0406775

Summaries for Dyschromatosis Symmetrica Hereditaria

NIH Rare Diseases : 50 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 fatal infantile encephalocardiomyopathy, and has symptoms including torsion dystonia, macule and macular hypopigmentation. An important gene associated with Dyschromatosis Symmetrica Hereditaria is ADAR (Adenosine Deaminase, RNA Specific), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Neural Crest Differentiation. Affiliated tissues include skin and testes, and related phenotypes are mortality/aging and growth/size/body region

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.

OMIM : 54
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)

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

Wikipedia : 72 Dyschromatosis symmetrica hereditaria (also known as \"Reticulate acropigmentation of Dohi,\" and... more...

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 52)
id Related Disease Score Top Affiliating Genes
1 dyschromatosis universalis hereditaria 3 11.2
2 fatal infantile encephalocardiomyopathy 10.7 ADA ADAR
3 congenital hereditary facial paralysis-variable hearing loss syndrome 10.6 ADA ADARB1
4 ovary rhabdomyosarcoma 10.5 HRAS PAX3
5 emilin-1-related connective tissue disease 10.4 ABCB6 ADAR DUH1
6 autosomal dominant non-syndromic intellectual disability 10.4 ABCB6 ADAR DUH1
7 vulval paget's disease 10.4 HRAS TYR
8 melanocytic nevus syndrome, congenital, somatic 10.4 HRAS TYR
9 dystonia 10.3
10 bone marrow cancer 10.3 HRAS TYR YARS
11 ptosis 10.3 ADAR PKLR TYR
12 ascaridiasis 10.2 PAX3 SOX10
13 prostate cancer, hereditary, 7 10.2 OCA2 TYRP1
14 hemangioma 10.2
15 cutaneous lupus erythematosus 10.2
16 dyschromatosis universalis hereditaria 10.2
17 viral encephalitis 10.2
18 hyperthyroidism 10.2
19 lupus erythematosus 10.2
20 encephalitis 10.2
21 dyschromatosis universalis 10.2
22 deafness, mitochondrial, modifier of 10.0 MITF SOX10
23 malignant breast melanoma 10.0 TYR TYRP1
24 chediak-higashi syndrome 10.0 LYST TYR TYRP1
25 tietz albinism-deafness syndrome 10.0 MITF TYR
26 commad syndrome 9.9 MITF TYR
27 sebaceous basal cell carcinoma 9.9 MITF TYR
28 schnitzler syndrome 9.9 MITF TYR
29 pycnodysostosis 9.8 HRAS MITF
30 primary cutaneous amyloidosis 9.8 OCA2 TYR TYRP1
31 fallopian tube serous papilloma 9.7 MITF SOX10 TYR
32 thyroid angiosarcoma 9.7 MITF SOX10 TYR
33 heavy chain disease 9.7 HRAS MITF TYR
34 oral mucosa leukoplakia 9.7 OCA2 TYR
35 brown-vialetto-van laere syndrome 9.6 HRAS MITF TYR
36 acute hydrops keratoconus 9.6 ADA ADAR MITF TYR
37 multilocular clear cell renal cell carcinoma 9.6 MITF PAX3
38 dubin-johnson syndrome 9.6 HRAS MITF TYRP1
39 wallerian degeneration 9.5 EDN3 MITF SOX10
40 rh deficiency syndrome 9.5 MITF OCA2 TYR
41 diabetes mellitus, noninsulin-dependent, 5 9.5 EDN3 MITF SOX10
42 epidermolysis bullosa simplex-mcr 9.5 MITF TYR TYRP1
43 agammaglobulinemia 4 9.5 LYST OCA2 PAX3 SOX10 TYR
44 autism susceptibility 16 9.5 MITF TYR TYRP1
45 autoinflammation with arthritis and dyskeratosis 9.4 MITF TYR TYRP1
46 waardenburg syndrome, type 3 9.2 EDN3 MITF PAX3 SOX10
47 biliary papillomatosis 9.2 EDN3 MITF PAX3 SOX10
48 myasthenic syndrome, congenital, 21, presynaptic 9.2 EDN3 MITF PAX3 SOX10
49 partial optic atrophy 9.1 ABCB6 MITF TYR TYRP1
50 collagenopathy, types ii and xi 9.0 MITF OCA2 TYR TYRP1

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:

54

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


Clinical features from OMIM:

127400

Human phenotypes related to Dyschromatosis Symmetrica Hereditaria:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 torsion dystonia 56 32 frequent (33%) Frequent (79-30%) HP:0001304
2 macule 56 32 hallmark (90%) Very frequent (99-80%) HP:0012733
3 macular hypopigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007988
4 macular hyperpigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0011509
5 hyperpigmented/hypopigmented macules 32 HP:0007441

MGI Mouse Phenotypes related to Dyschromatosis Symmetrica Hereditaria:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.36 ABCB6 ADA ADAR ADARB1 EDN3 HRAS
2 growth/size/body region MP:0005378 10.35 TYR TYRP1 YARS HRAS LYST MITF
3 behavior/neurological MP:0005386 10.32 LYST MITF OCA2 PAX3 SOX10 TOR1A
4 homeostasis/metabolism MP:0005376 10.32 ABCB6 ADA ADAR HRAS LYST MITF
5 cellular MP:0005384 10.23 ABCB6 ADAR LYST MITF OCA2 PAX3
6 endocrine/exocrine gland MP:0005379 10.15 ADA HRAS LYST MITF OCA2 PAX3
7 integument MP:0010771 10.15 EDN3 HRAS LYST MITF OCA2 PAX3
8 craniofacial MP:0005382 10.11 HRAS LYST MITF OCA2 PAX3 TYR
9 embryo MP:0005380 10.1 ADAR EDN3 MITF PAX3 SOX10 TYR
10 nervous system MP:0003631 10.1 ADARB1 EDN3 HRAS LYST MITF PAX3
11 normal MP:0002873 10.02 ADA ADARB1 HRAS MITF OCA2 PAX3
12 hearing/vestibular/ear MP:0005377 10 TYR TYRP1 LYST MITF OCA2 PAX3
13 limbs/digits/tail MP:0005371 9.95 LYST MITF OCA2 PAX3 SOX10 TYR
14 neoplasm MP:0002006 9.91 SOX10 TYR TYRP1 HRAS LYST PAX3
15 no phenotypic analysis MP:0003012 9.91 ADARB1 HRAS LYST MITF OCA2 PAX3
16 pigmentation MP:0001186 9.86 SOX10 TYR TYRP1 EDN3 LYST MITF
17 renal/urinary system MP:0005367 9.63 ADA HRAS LYST OCA2 PAX3 TYR
18 skeleton MP:0005390 9.56 ADA ADAR HRAS MITF OCA2 PAX3
19 vision/eye MP:0005391 9.17 TOR1A TYR TYRP1 LYST MITF OCA2

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

Genetic tests related to Dyschromatosis Symmetrica Hereditaria:

id Genetic test Affiliating Genes
1 Dyschromatosis Symmetrica Hereditaria 1 24 ADAR

Anatomical Context for Dyschromatosis Symmetrica Hereditaria

MalaCards organs/tissues related to Dyschromatosis Symmetrica Hereditaria:

39
Skin, Testes

Publications for Dyschromatosis Symmetrica Hereditaria

Articles related to Dyschromatosis Symmetrica Hereditaria:

(show top 50) (show all 75)
id Title Authors Year
1
Ultrastructural study of dyschromatosis symmetrica hereditaria with widespread pigmentary eruption. ( 28370262 )
2017
2
Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism. ( 28496371 )
2017
3
Pathogenicity of ADAR1 mutation in a Chinese family with dyschromatosis symmetrica hereditaria. ( 28502085 )
2017
4
A novel frameshift mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria and the dermoscopic features. ( 28502110 )
2017
5
Dyschromatosis symmetrica hereditaria complicated by intracranial hemangiomas and Parry-Romberg syndrome. ( 27040761 )
2016
6
Novel de novo heterozygous frameshift mutation of the ADAR1 gene in heavy dyschromatosis symmetrica hereditaria. ( 27814417 )
2016
7
[Two novel mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria]. ( 27060309 )
2016
8
Dyschromatosis Symmetrica Hereditaria and Aicardi-GoutiA"res Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. ( 26802932 )
2016
9
Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene. ( 26892242 )
2016
10
Novel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. ( 27230815 )
2016
11
A novel splice site mutation in the ADAR gene leading to exon skipping and dyschromatosis symmetrica hereditaria in a Japanese patient. ( 27747905 )
2016
12
Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria successfully treated with fractional CO2 laser. ( 25763870 )
2015
13
[Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria]. ( 26037352 )
2015
14
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene. ( 25982145 )
2015
15
A novel missense mutation in ADAR1 gene causing dyschromatosis symmetrica hereditaria in a Chinese patient. ( 25900931 )
2015
16
Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families. ( 23621649 )
2014
17
A novel nonsense mutation of ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria. ( 24673593 )
2014
18
Dyschromatosis symmetrica hereditaria with neurological abnormalities. ( 25382520 )
2014
19
A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria. ( 25189252 )
2014
20
Mutation analysis of the ADAR1 gene in a Chinese Family with dyschromatosis symmetrica hereditaria. ( 24433377 )
2014
21
Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. ( 24950769 )
2014
22
Dyschromatosis symmetrica hereditaria of late onset? ( 24826352 )
2014
23
A frameshift mutation in the ADAR gene in a Korean family with dyschromatosis symmetrica hereditaria. ( 25468572 )
2014
24
Dyschromatosis symmetrica hereditaria. ( 22974014 )
2013
25
Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. ( 23315877 )
2013
26
The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria. ( 23621630 )
2013
27
Patient with dyschromatosis symmetrica hereditaria treated with miniature punch grafting, followed by excimer light therapy. ( 23803141 )
2013
28
A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria. ( 24065641 )
2013
29
Two novel mutations in the DSRAD gene in two Chinese pedigrees with dyschromatosis symmetrica hereditaria. ( 24446047 )
2013
30
Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link? ( 24261734 )
2013
31
What is the novel clinical finding in dyschromatosis symmetrica hereditaria? ( 22974199 )
2013
32
Two novel frameshift mutations of the DSRAD gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria. ( 22039911 )
2012
33
Novel clinical and molecular findings in Chinese families with dyschromatosis symmetrica hereditaria. ( 22077581 )
2012
34
Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria. ( 23336285 )
2012
35
Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. ( 23075647 )
2012
36
Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: report of a novel ADAR1 mutation. ( 22821605 )
2012
37
Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria. ( 22336994 )
2012
38
A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 22843049 )
2012
39
A novel complex insertion-deletion mutation in ADAR1 gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 20586835 )
2011
40
Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. ( 21933234 )
2011
41
Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH). ( 20412337 )
2011
42
Four novel and two recurrent mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. ( 20430589 )
2010
43
Identification of a novel mutation in the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 20708476 )
2010
44
Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria. ( 20186421 )
2010
45
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene. ( 20439151 )
2010
46
Two new mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. ( 20300939 )
2010
47
Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria. ( 20069304 )
2010
48
Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. ( 21083709 )
2010
49
Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria. ( 18799292 )
2009
50
Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: histological observation and comparison of genotypes and clinical phenotypes. ( 18705826 )
2008

Variations for Dyschromatosis Symmetrica Hereditaria

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

71
id 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

ClinVar genetic disease variations for Dyschromatosis Symmetrica Hereditaria:

6
id 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

GO Terms for Dyschromatosis Symmetrica Hereditaria

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

id 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:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 neural crest cell migration GO:0001755 9.49 EDN3 SOX10
2 positive regulation of viral genome replication GO:0045070 9.48 ADAR ADARB1
3 defense response to protozoan GO:0042832 9.46 HRAS LYST
4 positive regulation of heart rate GO:0010460 9.43 ADA EDN3
5 melanosome organization GO:0032438 9.4 LYST TYRP1
6 negative regulation of protein kinase activity by regulation of protein phosphorylation GO:0044387 9.37 ADAR ADARB1
7 melanin biosynthetic process GO:0042438 9.33 OCA2 TYR TYRP1
8 adenosine to inosine editing GO:0006382 9.32 ADAR ADARB1
9 eye pigment biosynthetic process GO:0006726 9.26 OCA2 TYR
10 pigmentation GO:0043473 9.26 LYST OCA2 TYR TYRP1
11 melanocyte differentiation GO:0030318 9.02 EDN3 MITF OCA2 SOX10 TYRP1

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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