DSH
MCID: DYS022
MIFTS: 51

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:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 127400
Disease Ontology 12 DOID:0060257
NCIt 50 C118435
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 dowling-degos disease. 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, kidney and liver, and related phenotypes are macule and torsion dystonia

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 : 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.

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 116)
# Related Disease Score Top Affiliating Genes
1 dyschromatosis universalis hereditaria 30.7 DUH1 ADAR ABCB6
2 dowling-degos disease 30.5 TYR PKLR ADAR
3 dowling-degos disease 1 30.2 TYR MITF
4 dyschromatosis universalis hereditaria 3 12.1
5 xeroderma pigmentosum, variant type 10.7
6 dystonia 10.6
7 cutaneous lupus erythematosus 10.4
8 viral encephalitis 10.4
9 hyperthyroidism 10.4
10 lupus erythematosus 10.4
11 psoriasis 10.4
12 encephalitis 10.4
13 perniosis 10.4
14 malignant atrophic papulosis 10.3
15 reticulate acropigmentation of kitamura 10.3
16 bladder cancer 10.3
17 early onset absence epilepsy 10.2 ADAR ADA
18 hepatocellular carcinoma 10.2
19 alk-negative anaplastic large cell lymphoma 10.2 ADARB1 ADA
20 prostate cancer 10.2
21 mammographic density 10.2
22 adamantinoma of long bones 10.1
23 breast cancer 10.1
24 cleidocranial dysplasia 10.1
25 albinism, oculocutaneous, type ii 10.1 TYR OCA2
26 albinism, oculocutaneous, type iii 10.0 TYR OCA2
27 central nervous system melanocytic neoplasm 10.0 YARS TYR
28 albinism, oculocutaneous, type ib 10.0 TYR OCA2
29 cellular schwannoma 10.0 SOX10 PAX3
30 albinism, oculocutaneous, type v 10.0 TYR OCA2
31 albinism, oculocutaneous, type vii 10.0 TYR OCA2
32 albinism, oculocutaneous, type ia 10.0 TYR OCA2
33 arteries, anomalies of 10.0
34 cholangiocarcinoma 10.0
35 coronary artery anomaly 10.0
36 patulous eustachian tube 10.0
37 congenital nystagmus 10.0 TYR OCA2
38 waardenburg syndrome, type 2e 10.0 SOX10 MITF
39 acute contagious conjunctivitis 10.0 TYR OCA2
40 albinism, ocular, with sensorineural deafness 9.9 TYR MITF
41 pigmented basal cell carcinoma 9.9 TYR MITF
42 hypomelanosis of ito 9.9 TYR MITF
43 epithelioid cell melanoma 9.9 TYR MITF
44 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9 TYR MITF
45 colorectal cancer 9.9
46 ductal carcinoma in situ 9.9
47 breast fibroadenoma 9.9
48 intrahepatic cholangiocarcinoma 9.9
49 in situ carcinoma 9.9
50 reactive angioendotheliomatosis 9.9

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

MGI Mouse Phenotypes related to Dyschromatosis Symmetrica Hereditaria:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 ABCB6 ADA ADAR LYST MITF OCA2
2 growth/size/body region MP:0005378 10.25 ADA ADAR ADARB1 LYST MITF OCA2
3 homeostasis/metabolism MP:0005376 10.23 ABCB6 ADA ADAR LYST MITF OCA2
4 behavior/neurological MP:0005386 10.21 ADARB1 EDN3 LYST MITF OCA2 PAX3
5 mortality/aging MP:0010768 10.21 ABCB6 ADA ADAR ADARB1 EDN3 LYST
6 embryo MP:0005380 10.14 ADA ADAR EDN3 MITF PAX3 SOX10
7 integument MP:0010771 10.09 ABCB6 ADAR EDN3 LYST MITF OCA2
8 hematopoietic system MP:0005397 10.08 ABCB6 ADA ADAR LYST MITF OCA2
9 endocrine/exocrine gland MP:0005379 10.07 ADA LYST MITF OCA2 PAX3 SOX10
10 nervous system MP:0003631 9.97 ADAR ADARB1 EDN3 LYST MITF PAX3
11 hearing/vestibular/ear MP:0005377 9.89 LYST MITF OCA2 PAX3 TYR
12 limbs/digits/tail MP:0005371 9.88 LYST MITF OCA2 PAX3 SOX10 TYR
13 normal MP:0002873 9.81 ADA ADARB1 MITF OCA2 PAX3 PKLR
14 no phenotypic analysis MP:0003012 9.8 ADARB1 LYST MITF OCA2 PAX3 SOX10
15 pigmentation MP:0001186 9.5 EDN3 LYST MITF OCA2 PAX3 SOX10
16 vision/eye MP:0005391 9.1 LYST MITF OCA2 PAX3 TOR1A TYR

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, Kidney, Liver, Heart, Breast, Prostate, Thyroid

Publications for Dyschromatosis Symmetrica Hereditaria

Articles related to Dyschromatosis Symmetrica Hereditaria:

(show top 50) (show all 107)
# 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
Dyschromatosis symmetrica hereditaria may be successfully controlled by topical sunscreen. ( 30378542 )
2018
8
A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review. ( 29321362 )
2017
9
Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism. ( 28496371 )
2017
10
Ultrastructural study of dyschromatosis symmetrica hereditaria with widespread pigmentary eruption. ( 28370262 )
2017
11
A novel frameshift mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria and the dermoscopic features. ( 28502110 )
2017
12
Pathogenicity of ADAR1 mutation in a Chinese family with dyschromatosis symmetrica hereditaria. ( 28502085 )
2017
13
Novel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. ( 27230815 )
2016
14
[Two novel mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria]. ( 27060309 )
2016
15
Dyschromatosis Symmetrica Hereditaria and Aicardi-GoutiA"res Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. ( 26802932 )
2016
16
Dyschromatosis symmetrica hereditaria complicated by intracranial hemangiomas and Parry-Romberg syndrome. ( 27040761 )
2016
17
Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene. ( 26892242 )
2016
18
A novel splice site mutation in the ADAR gene leading to exon skipping and dyschromatosis symmetrica hereditaria in a Japanese patient. ( 27747905 )
2016
19
Novel de novo heterozygous frameshift mutation of the ADAR1 gene in heavy dyschromatosis symmetrica hereditaria. ( 27814417 )
2016
20
Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria successfully treated with fractional CO2 laser. ( 25763870 )
2015
21
A novel missense mutation in ADAR1 gene causing dyschromatosis symmetrica hereditaria in a Chinese patient. ( 25900931 )
2015
22
[Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria]. ( 26037352 )
2015
23
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene. ( 25982145 )
2015
24
Dyschromatosis symmetrica hereditaria of late onset? ( 24826352 )
2014
25
Mutation analysis of the ADAR1 gene in a Chinese Family with dyschromatosis symmetrica hereditaria. ( 24433377 )
2014
26
Dyschromatosis symmetrica hereditaria with neurological abnormalities. ( 25382520 )
2014
27
A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria. ( 25189252 )
2014
28
A novel nonsense mutation of ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria. ( 24673593 )
2014
29
Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. ( 24950769 )
2014
30
A frameshift mutation in the ADAR gene in a Korean family with dyschromatosis symmetrica hereditaria. ( 25468572 )
2014
31
Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families. ( 23621649 )
2014
32
A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria. ( 24065641 )
2013
33
Two novel mutations in the DSRAD gene in two Chinese pedigrees with dyschromatosis symmetrica hereditaria. ( 24446047 )
2013
34
What is the novel clinical finding in dyschromatosis symmetrica hereditaria? ( 22974199 )
2013
35
Patient with dyschromatosis symmetrica hereditaria treated with miniature punch grafting, followed by excimer light therapy. ( 23803141 )
2013
36
Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. ( 23315877 )
2013
37
Dyschromatosis symmetrica hereditaria. ( 22974014 )
2013
38
Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link? ( 24261734 )
2013
39
The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria. ( 23621630 )
2013
40
Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria. ( 23336285 )
2012
41
Novel clinical and molecular findings in Chinese families with dyschromatosis symmetrica hereditaria. ( 22077581 )
2012
42
A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. ( 22843049 )
2012
43
Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria. ( 22336994 )
2012
44
Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. ( 23075647 )
2012
45
Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: report of a novel ADAR1 mutation. ( 22821605 )
2012
46
Two novel frameshift mutations of the DSRAD gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria. ( 22039911 )
2012
47
First report of the coexistence of dyschromatosis symmetrica hereditaria and psoriasis: one novel TCT to A mutation in the double-RNA-specific adenosine deaminase gene. ( 21564324 )
2012
48
Dyschromatosis symmetrica hereditaria: a case report from Turkey, a new association and a novel gene mutation. ( 22594859 )
2012
49
Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH). ( 20412337 )
2011
50
Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. ( 21933234 )
2011

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 rs104484571

ClinVar genetic disease variations for Dyschromatosis Symmetrica Hereditaria:

6 (show top 50) (show all 238)
# 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.577C> G (p.Pro193Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145588689 GRCh38 Chromosome 1, 154602065: 154602065
16 ADAR NM_001111.4(ADAR): c.577C> G (p.Pro193Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145588689 GRCh37 Chromosome 1, 154574541: 154574541
17 ADAR NM_001111.4(ADAR): c.15+10G> T single nucleotide variant Benign rs58655370 GRCh37 Chromosome 1, 154580458: 154580458
18 ADAR NM_001111.4(ADAR): c.15+10G> T single nucleotide variant Benign rs58655370 GRCh38 Chromosome 1, 154607982: 154607982
19 ADAR NM_001111.4(ADAR): c.1151A> G (p.Lys384Arg) single nucleotide variant Benign rs2229857 GRCh37 Chromosome 1, 154573967: 154573967
20 ADAR NM_001111.4(ADAR): c.1151A> G (p.Lys384Arg) single nucleotide variant Benign rs2229857 GRCh38 Chromosome 1, 154601491: 154601491
21 ADAR NM_001111.4(ADAR): c.1760A> G (p.Tyr587Cys) single nucleotide variant Benign/Likely benign rs17843865 GRCh37 Chromosome 1, 154570903: 154570903
22 ADAR NM_001111.4(ADAR): c.1760A> G (p.Tyr587Cys) single nucleotide variant Benign/Likely benign rs17843865 GRCh38 Chromosome 1, 154598427: 154598427
23 ADAR NM_001111.4(ADAR): c.3443+8G> A single nucleotide variant Benign rs9427094 GRCh37 Chromosome 1, 154557685: 154557685
24 ADAR NM_001111.4(ADAR): c.3443+8G> A single nucleotide variant Benign rs9427094 GRCh38 Chromosome 1, 154585209: 154585209
25 ADAR NM_001111.4(ADAR): c.2682G> A (p.Val894=) single nucleotide variant Benign rs1127309 GRCh37 Chromosome 1, 154561925: 154561925
26 ADAR NM_001111.4(ADAR): c.2682G> A (p.Val894=) single nucleotide variant Benign rs1127309 GRCh38 Chromosome 1, 154589449: 154589449
27 ADAR NM_001111.4(ADAR): c.78G> A (p.Arg26=) single nucleotide variant Benign rs1802645 GRCh37 Chromosome 1, 154575040: 154575040
28 ADAR NM_001111.4(ADAR): c.78G> A (p.Arg26=) single nucleotide variant Benign rs1802645 GRCh38 Chromosome 1, 154602564: 154602564
29 ADAR NM_001111.4(ADAR): c.2553C> T (p.Cys851=) single nucleotide variant Benign/Likely benign rs138927668 GRCh37 Chromosome 1, 154562348: 154562348
30 ADAR NM_001111.4(ADAR): c.2553C> T (p.Cys851=) single nucleotide variant Benign/Likely benign rs138927668 GRCh38 Chromosome 1, 154589872: 154589872
31 ADAR NM_001111.4(ADAR): c.2496+9G> A single nucleotide variant Benign/Likely benign rs199698434 GRCh37 Chromosome 1, 154562651: 154562651
32 ADAR NM_001111.4(ADAR): c.2496+9G> A single nucleotide variant Benign/Likely benign rs199698434 GRCh38 Chromosome 1, 154590175: 154590175
33 ADAR NM_001111.4(ADAR): c.2130dupC (p.Asn711Glnfs) duplication Pathogenic rs886044895 GRCh37 Chromosome 1, 154569421: 154569421
34 ADAR NM_001111.4(ADAR): c.2130dupC (p.Asn711Glnfs) duplication Pathogenic rs886044895 GRCh38 Chromosome 1, 154596945: 154596945
35 ADAR NM_001111.4(ADAR): c.*1790A> G single nucleotide variant Benign rs1127326 GRCh37 Chromosome 1, 154555492: 154555492
36 ADAR NM_001111.4(ADAR): c.*1790A> G single nucleotide variant Benign rs1127326 GRCh38 Chromosome 1, 154583016: 154583016
37 ADAR NM_001111.4(ADAR): c.*1728C> T single nucleotide variant Uncertain significance rs886045322 GRCh37 Chromosome 1, 154555554: 154555554
38 ADAR NM_001111.4(ADAR): c.*1728C> T single nucleotide variant Uncertain significance rs886045322 GRCh38 Chromosome 1, 154583078: 154583078
39 ADAR NM_001111.4(ADAR): c.*1549T> A single nucleotide variant Benign rs9616 GRCh37 Chromosome 1, 154555733: 154555733
40 ADAR NM_001111.4(ADAR): c.*1549T> A single nucleotide variant Benign rs9616 GRCh38 Chromosome 1, 154583257: 154583257
41 ADAR NM_001111.4(ADAR): c.*1036C> G single nucleotide variant Uncertain significance rs886045327 GRCh37 Chromosome 1, 154556246: 154556246
42 ADAR NM_001111.4(ADAR): c.*1036C> G single nucleotide variant Uncertain significance rs886045327 GRCh38 Chromosome 1, 154583770: 154583770
43 ADAR NM_001111.4(ADAR): c.*479T> C single nucleotide variant Likely benign rs185835529 GRCh38 Chromosome 1, 154584327: 154584327
44 ADAR NM_001111.4(ADAR): c.*479T> C single nucleotide variant Likely benign rs185835529 GRCh37 Chromosome 1, 154556803: 154556803
45 ADAR NM_001111.4(ADAR): c.*468G> A single nucleotide variant Uncertain significance rs886045332 GRCh38 Chromosome 1, 154584338: 154584338
46 ADAR NM_001111.4(ADAR): c.*468G> A single nucleotide variant Uncertain significance rs886045332 GRCh37 Chromosome 1, 154556814: 154556814
47 ADAR NM_001111.4(ADAR): c.*361C> G single nucleotide variant Uncertain significance rs886045333 GRCh38 Chromosome 1, 154584445: 154584445
48 ADAR NM_001111.4(ADAR): c.*361C> G single nucleotide variant Uncertain significance rs886045333 GRCh37 Chromosome 1, 154556921: 154556921
49 ADAR NM_001111.4(ADAR): c.*323G> C single nucleotide variant Uncertain significance rs886045334 GRCh38 Chromosome 1, 154584483: 154584483
50 ADAR NM_001111.4(ADAR): c.*323G> C single nucleotide variant Uncertain significance rs886045334 GRCh37 Chromosome 1, 154556959: 154556959

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 8.62 OCA2 TYR

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

# Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.63 ADAR ADARB1 LYST
2 positive regulation of viral genome replication GO:0045070 9.43 ADAR ADARB1
3 positive regulation of heart rate GO:0010460 9.4 ADA EDN3
4 melanin biosynthetic process GO:0042438 9.37 OCA2 TYR
5 negative regulation of protein kinase activity by regulation of protein phosphorylation GO:0044387 9.32 ADAR ADARB1
6 adenosine to inosine editing GO:0006382 9.26 ADAR ADARB1
7 pigmentation GO:0043473 9.26 LYST MITF OCA2 TYR
8 eye pigment biosynthetic process GO:0006726 9.16 OCA2 TYR
9 melanocyte differentiation GO:0030318 8.92 EDN3 MITF OCA2 SOX10

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

# Name GO ID Score Top Affiliating Genes
1 tRNA-specific adenosine deaminase activity GO:0008251 9.16 ADAR ADARB1
2 double-stranded RNA adenosine deaminase activity GO:0003726 8.96 ADAR ADARB1
3 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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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