DSH
MCID: DYS022
MIFTS: 49

Dyschromatosis Symmetrica Hereditaria (DSH)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dyschromatosis Symmetrica Hereditaria

MalaCards integrated aliases for Dyschromatosis Symmetrica Hereditaria:

Name: Dyschromatosis Symmetrica Hereditaria 57 12 53 59 75 37 13 55 15
Dyschromatosis Symmetrica Hereditaria 1 57 53 75 44
Reticulate Acropigmentation of Dohi 57 12 53 75
Symmetric Dyschromatosis of the Extremities 57 53 75
Dsh1 57 53 75
Dsh 57 53 75
Dyschromatosis Symmetrica Hereditaria 1; Dsh1 57
Familial Reticulate Acropigmentation of Dohi 53
Symmetrical Dyschromatosis of Extremities 73
Reticulate Acropigmentation of Dohi; Rad 57
Acropigmentation of Dohi 59
Rad 57

Characteristics:

Orphanet epidemiological data:

59
dyschromatosis symmetrica hereditaria
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 127400
Disease Ontology 12 DOID:0060257
NCIt 50 C118435
SNOMED-CT 68 239085000
Orphanet 59 ORPHA41
ICD10 via Orphanet 34 L81.8
MESH via Orphanet 45 C535729
UMLS via Orphanet 74 C0406775
MedGen 42 C0406775
KEGG 37 H00880
UMLS 73 C0406775

Summaries for Dyschromatosis Symmetrica Hereditaria

NIH Rare Diseases : 53 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.

MalaCards based summary : Dyschromatosis Symmetrica Hereditaria, also known as dyschromatosis symmetrica hereditaria 1, is related to dyschromatosis universalis hereditaria and dyschromatosis universalis hereditaria 3. 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 Purine metabolism (KEGG). Affiliated tissues include skin and testes, and related phenotypes are torsion dystonia and macular hypopigmentation

OMIM : 57 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 : 75 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.

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 : 76 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 91)
# Related Disease Score Top Affiliating Genes
1 dyschromatosis universalis hereditaria 30.9 ABCB6 ADAR DUH1
2 dyschromatosis universalis hereditaria 3 11.9
3 early onset absence epilepsy 10.7 ADA ADAR
4 alk-negative anaplastic large cell lymphoma 10.7 ADA ADARB1
5 malignant conjunctival melanoma 10.6 HRAS SOX10
6 ectomesenchymoma 10.5 HRAS PAX3
7 dystonia 10.4
8 waardenburg syndrome, type 2e 10.3 MITF SOX10
9 melanocytic nevus syndrome, congenital 10.3 HRAS TYR
10 xeroderma pigmentosum, variant type 10.3
11 hemangioma 10.3
12 cutaneous lupus erythematosus 10.3
13 viral encephalitis 10.3
14 hyperthyroidism 10.3
15 lupus erythematosus 10.3
16 encephalitis 10.3
17 vulvar melanoma 10.2 HRAS TYR
18 central nervous system melanocytic neoplasm 10.2 HRAS TYR YARS
19 pycnodysostosis 10.2 HRAS MITF
20 albinism, ocular, with sensorineural deafness 10.2 MITF TYR
21 malignant skin fibrous histiocytoma 10.1 HRAS TYR
22 pigmented basal cell carcinoma 10.1 MITF TYR
23 epithelioid cell melanoma 10.1 MITF TYR
24 childhood kidney cell carcinoma 10.0 MITF PAX3
25 albinism, oculocutaneous, type ii 10.0 OCA2 TYRP1
26 breast cancer 10.0
27 malignant dermis tumor 9.9 HRAS TYR
28 amelanotic melanoma 9.9 TYR TYRP1
29 prostate cancer 9.9
30 leukemia 9.9
31 prostatitis 9.9
32 malignant spindle cell melanoma 9.9 MITF SOX10 TYR
33 breast angiosarcoma 9.9 MITF SOX10 TYR
34 integumentary system cancer 9.9 HRAS MITF TYR
35 cell type cancer 9.8 HRAS MITF TYR
36 colorectal cancer 9.8
37 hepatocellular carcinoma 9.8
38 cholangiocarcinoma 9.8
39 ductal carcinoma in situ 9.8
40 thyroiditis 9.8
41 congenital nystagmus 9.8 OCA2 TYR
42 skin melanoma 9.8 HRAS MITF TYR
43 pigmentation disease 9.7 ADA ADAR MITF TYR
44 chediak-higashi syndrome 9.7 LYST TYR TYRP1
45 amyotrophic lateral sclerosis 1 9.7
46 arteries, anomalies of 9.7
47 diabetes mellitus, noninsulin-dependent 9.7
48 down syndrome 9.7
49 ataxia-telangiectasia 9.7
50 aging 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:

57
Skin Nails Hair Skin:
hyperpigmented/hypopigmented macules (dorsum hands and feet, face)


Clinical features from OMIM:

127400

Human phenotypes related to Dyschromatosis Symmetrica Hereditaria:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 torsion dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001304
2 macular hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007988
3 macular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0011509
4 macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0012733
5 hyperpigmented/hypopigmented macules 32 HP:0007441

MGI Mouse Phenotypes related to Dyschromatosis Symmetrica Hereditaria:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 MITF OCA2 PAX3 SOX10 ADA ADAR
2 homeostasis/metabolism MP:0005376 10.31 ABCB6 ADA ADAR HRAS LYST MITF
3 mortality/aging MP:0010768 10.31 ABCB6 ADA ADAR ADARB1 EDN3 HRAS
4 behavior/neurological MP:0005386 10.29 ADARB1 EDN3 HRAS LYST MITF OCA2
5 cellular MP:0005384 10.28 ABCB6 ADA ADAR LYST MITF OCA2
6 integument MP:0010771 10.22 ABCB6 ADAR EDN3 HRAS LYST MITF
7 embryo MP:0005380 10.16 ADA ADAR EDN3 MITF PAX3 SOX10
8 hematopoietic system MP:0005397 10.16 ABCB6 ADA ADAR LYST MITF OCA2
9 endocrine/exocrine gland MP:0005379 10.15 ADA HRAS LYST MITF OCA2 PAX3
10 craniofacial MP:0005382 10.12 PAX3 TYR TYRP1 HRAS LYST MITF
11 nervous system MP:0003631 10.07 MITF PAX3 SOX10 TYR TYRP1 ADARB1
12 digestive/alimentary MP:0005381 10.04 ADA EDN3 HRAS OCA2 PAX3 SOX10
13 hearing/vestibular/ear MP:0005377 10 LYST MITF OCA2 PAX3 TYR TYRP1
14 limbs/digits/tail MP:0005371 9.93 LYST MITF OCA2 PAX3 SOX10 TYR
15 no phenotypic analysis MP:0003012 9.92 ADARB1 HRAS LYST MITF OCA2 PAX3
16 normal MP:0002873 9.91 ADA ADARB1 HRAS MITF OCA2 PAX3
17 neoplasm MP:0002006 9.88 HRAS LYST PAX3 SOX10 TYR TYRP1
18 pigmentation MP:0001186 9.76 EDN3 LYST MITF OCA2 PAX3 SOX10
19 renal/urinary system MP:0005367 9.43 ADA HRAS LYST OCA2 TYR PAX3
20 skeleton MP:0005390 9.23 ADA ADAR HRAS MITF OCA2 PAX3

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:

41
Skin, Testes

Publications for Dyschromatosis Symmetrica Hereditaria

Articles related to Dyschromatosis Symmetrica Hereditaria:

(show top 50) (show all 82)
# Title Authors Year
1
Four novel mutations of <i>ADAR1</i> in Chinese patients with dyschromatosis symmetrica hereditaria. ( 29536976 )
2018
2
Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria. ( 29915444 )
2018
3
Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A-I editing efficiency of ADAR1 mutants and phenotype expression. ( 29603717 )
2018
4
Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria. ( 29185800 )
2018
5
Sunlight is merely a temporary modifier of dyschromatosis symmetrica hereditaria. ( 29400290 )
2018
6
Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1. ( 29775506 )
2018
7
A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review. ( 29321362 )
2017
8
Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism. ( 28496371 )
2017
9
Ultrastructural study of dyschromatosis symmetrica hereditaria with widespread pigmentary eruption. ( 28370262 )
2017
10
A novel frameshift mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria and the dermoscopic features. ( 28502110 )
2017
11
Pathogenicity of ADAR1 mutation in a Chinese family with dyschromatosis symmetrica hereditaria. ( 28502085 )
2017
12
Novel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. ( 27230815 )
2016
13
[Two novel mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria]. ( 27060309 )
2016
14
Dyschromatosis Symmetrica Hereditaria and Aicardi-GoutiA"res Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. ( 26802932 )
2016
15
Dyschromatosis symmetrica hereditaria complicated by intracranial hemangiomas and Parry-Romberg syndrome. ( 27040761 )
2016
16
Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene. ( 26892242 )
2016
17
A novel splice site mutation in the ADAR gene leading to exon skipping and dyschromatosis symmetrica hereditaria in a Japanese patient. ( 27747905 )
2016
18
Novel de novo heterozygous frameshift mutation of the ADAR1 gene in heavy dyschromatosis symmetrica hereditaria. ( 27814417 )
2016
19
Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria successfully treated with fractional CO2 laser. ( 25763870 )
2015
20
A novel missense mutation in ADAR1 gene causing dyschromatosis symmetrica hereditaria in a Chinese patient. ( 25900931 )
2015
21
[Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria]. ( 26037352 )
2015
22
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene. ( 25982145 )
2015
23
Dyschromatosis symmetrica hereditaria of late onset? ( 24826352 )
2014
24
Mutation analysis of the ADAR1 gene in a Chinese Family with dyschromatosis symmetrica hereditaria. ( 24433377 )
2014
25
Dyschromatosis symmetrica hereditaria with neurological abnormalities. ( 25382520 )
2014
26
A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria. ( 25189252 )
2014
27
A novel nonsense mutation of ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria. ( 24673593 )
2014
28
Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. ( 24950769 )
2014
29
A frameshift mutation in the ADAR gene in a Korean family with dyschromatosis symmetrica hereditaria. ( 25468572 )
2014
30
Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families. ( 23621649 )
2014
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
What is the novel clinical finding in dyschromatosis symmetrica hereditaria? ( 22974199 )
2013
34
Patient with dyschromatosis symmetrica hereditaria treated with miniature punch grafting, followed by excimer light therapy. ( 23803141 )
2013
35
Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. ( 23315877 )
2013
36
Dyschromatosis symmetrica hereditaria. ( 22974014 )
2013
37
Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link? ( 24261734 )
2013
38
The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria. ( 23621630 )
2013
39
Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria. ( 23336285 )
2012
40
Novel clinical and molecular findings in Chinese families with dyschromatosis symmetrica hereditaria. ( 22077581 )
2012
41
A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 22843049 )
2012
42
Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria. ( 22336994 )
2012
43
Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. ( 23075647 )
2012
44
Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: report of a novel ADAR1 mutation. ( 22821605 )
2012
45
Two novel frameshift mutations of the DSRAD gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria. ( 22039911 )
2012
46
Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH). ( 20412337 )
2011
47
Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. ( 21933234 )
2011
48
A novel complex insertion-deletion mutation in ADAR1 gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 20586835 )
2011
49
Identification of a novel mutation in the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 20708476 )
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:

75
# 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
(show top 50) (show all 216)
# 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.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs121912421 GRCh38 Chromosome 1, 154601222: 154601222
3 ADAR NM_001025107.2(ADAR): c.1883T> C (p.Leu628Pro) single nucleotide variant Pathogenic rs28936680 GRCh37 Chromosome 1, 154561144: 154561144
4 ADAR NM_001025107.2(ADAR): c.1883T> C (p.Leu628Pro) single nucleotide variant Pathogenic rs28936680 GRCh38 Chromosome 1, 154588668: 154588668
5 ADAR NM_001025107.2(ADAR): c.1969A> T (p.Lys657Ter) single nucleotide variant Pathogenic rs121912422 GRCh37 Chromosome 1, 154561058: 154561058
6 ADAR NM_001025107.2(ADAR): c.1969A> T (p.Lys657Ter) single nucleotide variant Pathogenic rs121912422 GRCh38 Chromosome 1, 154588582: 154588582
7 ADAR NM_001025107.2(ADAR): c.2609T> C (p.Phe870Ser) single nucleotide variant Pathogenic rs28936681 GRCh37 Chromosome 1, 154557469: 154557469
8 ADAR NM_001025107.2(ADAR): c.2609T> C (p.Phe870Ser) single nucleotide variant Pathogenic rs28936681 GRCh38 Chromosome 1, 154584993: 154584993
9 ADAR NM_001025107.2(ADAR): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs121912423 GRCh37 Chromosome 1, 154569601: 154569601
10 ADAR NM_001025107.2(ADAR): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs121912423 GRCh38 Chromosome 1, 154597125: 154597125
11 ADAR NM_001025107.2(ADAR): c.56_57delCT (p.Ser19Cysfs) deletion Pathogenic rs387906541 GRCh37 Chromosome 1, 154574176: 154574177
12 ADAR NM_001025107.2(ADAR): c.56_57delCT (p.Ser19Cysfs) deletion Pathogenic rs387906541 GRCh38 Chromosome 1, 154601700: 154601701
13 ADAR NM_001111.4(ADAR): c.3019G> A (p.Gly1007Arg) single nucleotide variant Likely pathogenic rs398122822 GRCh37 Chromosome 1, 154560601: 154560601
14 ADAR NM_001111.4(ADAR): c.3019G> A (p.Gly1007Arg) single nucleotide variant Likely pathogenic rs398122822 GRCh38 Chromosome 1, 154588125: 154588125
15 ADAR NM_001111.4(ADAR): c.15+10G> T single nucleotide variant Benign rs58655370 GRCh37 Chromosome 1, 154580458: 154580458
16 ADAR NM_001111.4(ADAR): c.15+10G> T single nucleotide variant Benign rs58655370 GRCh38 Chromosome 1, 154607982: 154607982
17 ADAR NM_001111.4(ADAR): c.1151A> G (p.Lys384Arg) single nucleotide variant Benign rs2229857 GRCh37 Chromosome 1, 154573967: 154573967
18 ADAR NM_001111.4(ADAR): c.1151A> G (p.Lys384Arg) single nucleotide variant Benign rs2229857 GRCh38 Chromosome 1, 154601491: 154601491
19 ADAR NM_001111.4(ADAR): c.1760A> G (p.Tyr587Cys) single nucleotide variant Benign/Likely benign rs17843865 GRCh37 Chromosome 1, 154570903: 154570903
20 ADAR NM_001111.4(ADAR): c.1760A> G (p.Tyr587Cys) single nucleotide variant Benign/Likely benign rs17843865 GRCh38 Chromosome 1, 154598427: 154598427
21 ADAR NM_001111.4(ADAR): c.3443+8G> A single nucleotide variant Benign rs9427094 GRCh37 Chromosome 1, 154557685: 154557685
22 ADAR NM_001111.4(ADAR): c.3443+8G> A single nucleotide variant Benign rs9427094 GRCh38 Chromosome 1, 154585209: 154585209
23 ADAR NM_001111.4(ADAR): c.2682G> A (p.Val894=) single nucleotide variant Benign rs1127309 GRCh37 Chromosome 1, 154561925: 154561925
24 ADAR NM_001111.4(ADAR): c.2682G> A (p.Val894=) single nucleotide variant Benign rs1127309 GRCh38 Chromosome 1, 154589449: 154589449
25 ADAR NM_001111.4(ADAR): c.78G> A (p.Arg26=) single nucleotide variant Benign rs1802645 GRCh37 Chromosome 1, 154575040: 154575040
26 ADAR NM_001111.4(ADAR): c.78G> A (p.Arg26=) single nucleotide variant Benign rs1802645 GRCh38 Chromosome 1, 154602564: 154602564
27 ADAR NM_001111.4(ADAR): c.2553C> T (p.Cys851=) single nucleotide variant Benign/Likely benign rs138927668 GRCh37 Chromosome 1, 154562348: 154562348
28 ADAR NM_001111.4(ADAR): c.2553C> T (p.Cys851=) single nucleotide variant Benign/Likely benign rs138927668 GRCh38 Chromosome 1, 154589872: 154589872
29 ADAR NM_001111.4(ADAR): c.2496+9G> A single nucleotide variant Benign/Likely benign rs199698434 GRCh37 Chromosome 1, 154562651: 154562651
30 ADAR NM_001111.4(ADAR): c.2496+9G> A single nucleotide variant Benign/Likely benign rs199698434 GRCh38 Chromosome 1, 154590175: 154590175
31 ADAR NM_001111.4(ADAR): c.2130dupC (p.Asn711Glnfs) duplication Pathogenic rs886044895 GRCh37 Chromosome 1, 154569421: 154569421
32 ADAR NM_001111.4(ADAR): c.2130dupC (p.Asn711Glnfs) duplication Pathogenic rs886044895 GRCh38 Chromosome 1, 154596945: 154596945
33 ADAR NM_001111.4(ADAR): c.*1790A> G single nucleotide variant Benign rs1127326 GRCh37 Chromosome 1, 154555492: 154555492
34 ADAR NM_001111.4(ADAR): c.*1790A> G single nucleotide variant Benign rs1127326 GRCh38 Chromosome 1, 154583016: 154583016
35 ADAR NM_001111.4(ADAR): c.*1728C> T single nucleotide variant Uncertain significance rs886045322 GRCh37 Chromosome 1, 154555554: 154555554
36 ADAR NM_001111.4(ADAR): c.*1728C> T single nucleotide variant Uncertain significance rs886045322 GRCh38 Chromosome 1, 154583078: 154583078
37 ADAR NM_001111.4(ADAR): c.*1549T> A single nucleotide variant Benign rs9616 GRCh37 Chromosome 1, 154555733: 154555733
38 ADAR NM_001111.4(ADAR): c.*1549T> A single nucleotide variant Benign rs9616 GRCh38 Chromosome 1, 154583257: 154583257
39 ADAR NM_001111.4(ADAR): c.*1036C> G single nucleotide variant Uncertain significance rs886045327 GRCh37 Chromosome 1, 154556246: 154556246
40 ADAR NM_001111.4(ADAR): c.*1036C> G single nucleotide variant Uncertain significance rs886045327 GRCh38 Chromosome 1, 154583770: 154583770
41 ADAR NM_001111.4(ADAR): c.*479T> C single nucleotide variant Likely benign rs185835529 GRCh38 Chromosome 1, 154584327: 154584327
42 ADAR NM_001111.4(ADAR): c.*479T> C single nucleotide variant Likely benign rs185835529 GRCh37 Chromosome 1, 154556803: 154556803
43 ADAR NM_001111.4(ADAR): c.*468G> A single nucleotide variant Uncertain significance rs886045332 GRCh38 Chromosome 1, 154584338: 154584338
44 ADAR NM_001111.4(ADAR): c.*468G> A single nucleotide variant Uncertain significance rs886045332 GRCh37 Chromosome 1, 154556814: 154556814
45 ADAR NM_001111.4(ADAR): c.*361C> G single nucleotide variant Uncertain significance rs886045333 GRCh38 Chromosome 1, 154584445: 154584445
46 ADAR NM_001111.4(ADAR): c.*361C> G single nucleotide variant Uncertain significance rs886045333 GRCh37 Chromosome 1, 154556921: 154556921
47 ADAR NM_001111.4(ADAR): c.*323G> C single nucleotide variant Uncertain significance rs886045334 GRCh38 Chromosome 1, 154584483: 154584483
48 ADAR NM_001111.4(ADAR): c.*323G> C single nucleotide variant Uncertain significance rs886045334 GRCh37 Chromosome 1, 154556959: 154556959
49 ADAR NM_001111.4(ADAR): c.*317T> G single nucleotide variant Uncertain significance rs886045335 GRCh38 Chromosome 1, 154584489: 154584489
50 ADAR NM_001111.4(ADAR): c.*317T> G single nucleotide variant Uncertain significance rs886045335 GRCh37 Chromosome 1, 154556965: 154556965

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:

37
# 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.67 ADAR ADARB1 LYST
2 positive regulation of viral genome replication GO:0045070 9.48 ADAR ADARB1
3 melanosome organization GO:0032438 9.46 LYST TYRP1
4 positive regulation of heart rate GO:0010460 9.43 ADA EDN3
5 defense response to protozoan GO:0042832 9.4 HRAS LYST
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 melanocyte differentiation GO:0030318 9.26 EDN3 MITF OCA2 TYRP1
11 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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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38 LifeMap
40 LOVD
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46 MGI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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