DSH
MCID: DYS022
MIFTS: 48

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 20 58 72 36 13 54 15 39
Dyschromatosis Symmetrica Hereditaria 1 57 20 72 6 44
Reticulate Acropigmentation of Dohi 57 12 20 72
Symmetric Dyschromatosis of the Extremities 57 20 72
Dsh1 57 20 72
Dsh 57 20 72
Dyschromatosis Symmetrica Hereditaria 1; Dsh1 57
Familial Reticulate Acropigmentation of Dohi 20
Symmetrical Dyschromatosis of Extremities 70
Reticulate Acropigmentation of Dohi; Rad 57
Acropigmentation of Dohi 58
Rad 57

Characteristics:

Orphanet epidemiological data:

58
dyschromatosis symmetrica hereditaria
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
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: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060257
OMIM® 57 127400
OMIM Phenotypic Series 57 PS179850
KEGG 36 H00880
NCIt 50 C118435
SNOMED-CT 67 239085000
MESH via Orphanet 45 C535729
ICD10 via Orphanet 33 L81.8
UMLS via Orphanet 71 C0406775
Orphanet 58 ORPHA41
MedGen 41 C0406775
UMLS 70 C0406775

Summaries for Dyschromatosis Symmetrica Hereditaria

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 41 Definition A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs. Clinical description The first manifestations of the disease generally appear during early childhood. Etiology A mutation has been identified in the double-stranded RNA -specific adenosine deaminase ( ADAR ) gene. Genetic counseling Transmission is autosomal dominant.

MalaCards based summary : Dyschromatosis Symmetrica Hereditaria, also known as dyschromatosis symmetrica hereditaria 1, is related to dystonia and dyschromatosis universalis hereditaria. 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 Nicotine addiction. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are macule and macular hypopigmentation

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) (Updated 05-Apr-2021)

KEGG : 36 Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance. It presents in infancy or early childhood as a mixture of hyperpigmented and hypopigmented macules on dorsa of hands and feet. It is caused by a mutation of adenosine deaminase acting on the RNA 1 gene (ADAR1).

UniProtKB/Swiss-Prot : 72 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 : 73 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 208)
# Related Disease Score Top Affiliating Genes
1 dystonia 30.5 RNASEH2C RNASEH2B RNASEH2A ADAR
2 dyschromatosis universalis hereditaria 30.1 DUH1 ADAR ABCB6
3 pigmentation disease 30.0 MIR376A1 ADAR ABCB6
4 aicardi-goutieres syndrome 28.9 RNASEH2C RNASEH2B RNASEH2A MIR376A1 MAVS GRIA2
5 dyschromatosis universalis hereditaria 1 11.4
6 dyschromatosis universalis hereditaria 3 11.4
7 cerebellar, ocular, craniofacial, and genital syndrome 11.0
8 erythrokeratoderma ''en cocardes'' 10.9
9 aicardi-goutieres syndrome 6 10.8
10 skin disease 10.7
11 xeroderma pigmentosum, variant type 10.6
12 vitiligo-associated multiple autoimmune disease susceptibility 6 10.4
13 vitiligo-associated multiple autoimmune disease susceptibility 1 10.4
14 cutaneous lupus erythematosus 10.4
15 hemangioma 10.4
16 hyperthyroidism 10.4
17 neurofibromatosis 10.3
18 alzheimer disease 10.3
19 dens evaginatus 10.3
20 dystonia 1, torsion, autosomal dominant 10.3
21 hemifacial atrophy, progressive 10.3
22 malignant atrophic papulosis 10.3
23 reticulate acropigmentation of kitamura 10.3
24 dowling-degos disease 10.3
25 facial hemiatrophy 10.3
26 pustulosis of palm and sole 10.3
27 skin hemangioma 10.3
28 cavernous hemangioma 10.3
29 viral encephalitis 10.3
30 lupus erythematosus 10.3
31 psoriasis 10.3
32 encephalitis 10.3
33 hereditary dystonia 10.3
34 perniosis 10.3
35 rare genetic skin disease 10.3
36 alk-negative anaplastic large cell lymphoma 10.2 ADARB1 ADA
37 cervical non-keratinizing squamous cell carcinoma 10.2 ADAR ADA
38 dowling-degos disease 1 10.2
39 tylosis with esophageal cancer 10.1 MIR376A1 ADAR
40 hepatitis d 10.1 ADARB1 ADAR
41 hair whorl 10.1
42 thalassemia 10.1
43 bladder cancer 10.1
44 beta-thalassemia 10.1
45 aicardi-goutieres syndrome 1 10.0 RNASEH2B RNASEH2A
46 ataxia-telangiectasia 10.0
47 ataxia and polyneuropathy, adult-onset 10.0
48 telangiectasis 10.0
49 hemoglobinopathy 10.0
50 dysphagia 10.0

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



Diseases related to Dyschromatosis Symmetrica Hereditaria

Symptoms & Phenotypes for Dyschromatosis Symmetrica Hereditaria

Human phenotypes related to Dyschromatosis Symmetrica Hereditaria:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0012733
2 macular hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007988
3 macular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0011509
4 torsion dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001304
5 hyperpigmented/hypopigmented macules 31 HP:0007441

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
hyperpigmented/hypopigmented macules (dorsum hands and feet, face)

Clinical features from OMIM®:

127400 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Dyschromatosis Symmetrica Hereditaria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.36 ABCB6 ADA ADAR ADARB1 ADARB2 AZIN1

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:

40
Skin, Brain, Spinal Cord

Publications for Dyschromatosis Symmetrica Hereditaria

Articles related to Dyschromatosis Symmetrica Hereditaria:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. 54 61 57 6
12916015 2003
2
A novel nonsense mutation of the DSRAD gene in a Taiwanese family with dyschromatosis symmetrica hereditaria. 6 57 61
16935814 2006
3
Dyschromatosis symmetrica hereditaria associated with neurological disorders. 6 61 54
19017046 2008
4
Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: histological observation and comparison of genotypes and clinical phenotypes. 54 61 6
18705826 2008
5
Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation. 61 54 6
16817193 2006
6
Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria. 6 61 54
15724015 2005
7
Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). 61 54 6
15146470 2004
8
Four novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria. 61 6
29536976 2019
9
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene. 6 61
25982145 2015
10
Dyschromatosis symmetrica hereditaria. 61 6
22974014 2013
11
Novel deletion mutation of DSRAD in a Chinese family with Dyschromatosis Symmetrica Hereditaria (DSH). 6 61
17478391 2007
12
A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2. 61 57
12815562 2003
13
Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21. 57 61
12713580 2003
14
Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9. 57 61
10674821 2000
15
Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases. 57 61
10233273 1999
16
Dyschromatosis. 57 61
9125769 1997
17
Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia. A case report. 57 61
7911621 1994
18
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 6
25243380 2014
19
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 6
24262145 2014
20
The spectrum of reticulate pigment disorders of the skin revisited. 57
23018017 2012
21
Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance. 57
10863235 2000
22
Familial reticulate acropigmentation of Dohi. 57
9366859 1997
23
Genetical studies on skin diseases. VII. Dyschromatosis universalis hereditaria in 5 generations. 57
14950856 1952
24
Four novel and two recurrent mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. 54 61
20430589 2010
25
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene. 54 61
20439151 2010
26
Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria. 54 61
18799292 2009
27
Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. 61 54
18243666 2008
28
A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria. 54 61
17569068 2007
29
Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria. 54 61
16917490 2007
30
Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria. 54 61
17225010 2007
31
Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria. 61 54
17021765 2006
32
Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. 54 61
16536805 2006
33
A new mutation of the double-stranded RNA-specific adenosine deaminase gene in a family with dyschromatosis symmetrica hereditaria. 61 54
17033168 2006
34
Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH). 61 54
16133458 2005
35
The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described. 54 61
16086746 2005
36
Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. 61 54
15955093 2005
37
Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria. 54 61
15844011 2005
38
A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. 61 54
15659327 2005
39
A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. 54 61
15347341 2004
40
Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria. 54 61
15102079 2004
41
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene. 61
32593192 2021
42
Decoupling expression and editing preferences of ADAR1 p150 and p110 isoforms. 61
33723056 2021
43
A case of dyschromatosis symmetrica hereditaria with an associated eyelid hemangioma. 61
33434773 2021
44
Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India. 61
33289110 2020
45
[Analysis of ADAR1 gene variants in two pedigrees affected with dyschromatosis symmetrica hereditaria]. 61
33179227 2020
46
Movement disorders in ADAR1 disease: Insights from a comprehensive cohort. 61
32911246 2020
47
Pathogenesis of a variant in the 5' untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria. 61
31926050 2020
48
Mendelian disease caused by variants affecting recognition of Z-DNA and Z-RNA by the Zα domain of the double-stranded RNA editing enzyme ADAR. 61
31320745 2020
49
[Identification of a novel c.2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria]. 61
31703134 2019
50
Seven novel mutations of ADAR in multi-ethnic pedigrees with dyschromatosis symmetrica hereditaria in China. 61
31423758 2019

Variations for Dyschromatosis Symmetrica Hereditaria

ClinVar genetic disease variations for Dyschromatosis Symmetrica Hereditaria:

6 (show top 50) (show all 313)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAR NM_001111.5(ADAR):c.939_940CT[1] (p.Ser314fs) Microsatellite Pathogenic 14822 rs387906541 GRCh37: 1:154574176-154574177
GRCh38: 1:154601700-154601701
2 ADAR NM_001111.5(ADAR):c.2077C>T (p.Gln693Ter) SNV Pathogenic 14821 rs121912423 GRCh37: 1:154569601-154569601
GRCh38: 1:154597125-154597125
3 ADAR NM_001111.5(ADAR):c.3494T>C (p.Phe1165Ser) SNV Pathogenic 14820 rs28936681 GRCh37: 1:154557469-154557469
GRCh38: 1:154584993-154584993
4 ADAR NM_001111.5(ADAR):c.2854A>T (p.Lys952Ter) SNV Pathogenic 14819 rs121912422 GRCh37: 1:154561058-154561058
GRCh38: 1:154588582-154588582
5 ADAR NM_001111.5(ADAR):c.2768T>C (p.Leu923Pro) SNV Pathogenic 14818 rs28936680 GRCh37: 1:154561144-154561144
GRCh38: 1:154588668-154588668
6 ADAR NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter) SNV Pathogenic 14817 rs121912421 GRCh37: 1:154573698-154573698
GRCh38: 1:154601222-154601222
7 ADAR NM_001111.5(ADAR):c.3346del (p.Arg1116fs) Deletion Pathogenic 582556 rs1557863734 GRCh37: 1:154557790-154557790
GRCh38: 1:154585314-154585314
8 ADAR NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) Deletion Pathogenic 521470 rs779357448 GRCh37: 1:154562722-154562723
GRCh38: 1:154590246-154590247
9 ADAR NM_001111.5(ADAR):c.2564dup (p.Thr856fs) Duplication Pathogenic 649961 rs1571065237 GRCh37: 1:154562336-154562337
GRCh38: 1:154589860-154589861
10 ADAR NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) Duplication Pathogenic 664624 rs1571046959 GRCh37: 1:154557772-154557773
GRCh38: 1:154585296-154585297
11 ADAR NM_001111.5(ADAR):c.638del (p.Pro213fs) Deletion Pathogenic 801553 rs1571110353 GRCh37: 1:154574480-154574480
GRCh38: 1:154602004-154602004
12 ADAR NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) SNV Pathogenic 39458 rs398122822 GRCh37: 1:154560601-154560601
GRCh38: 1:154588125-154588125
13 ADAR NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) SNV Likely pathogenic 39458 rs398122822 GRCh37: 1:154560601-154560601
GRCh38: 1:154588125-154588125
14 ADAR NM_001111.5(ADAR):c.2886-1del Deletion Likely pathogenic 958597 GRCh37: 1:154560735-154560735
GRCh38: 1:154588259-154588259
15 ADAR NM_001111.5(ADAR):c.3143T>C (p.Leu1048Pro) SNV Likely pathogenic 801551 rs1571050825 GRCh37: 1:154558716-154558716
GRCh38: 1:154586240-154586240
16 ADAR NM_001111.5(ADAR):c.2729A>G (p.His910Arg) SNV Likely pathogenic 801552 rs1571063283 GRCh37: 1:154561878-154561878
GRCh38: 1:154589402-154589402
17 ADAR NM_001111.5(ADAR):c.2668+6T>C SNV Conflicting interpretations of pathogenicity 292766 rs190881240 GRCh37: 1:154562227-154562227
GRCh38: 1:154589751-154589751
18 ADAR NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) SNV Conflicting interpretations of pathogenicity 126395 rs145588689 GRCh37: 1:154574541-154574541
GRCh38: 1:154602065-154602065
19 ADAR NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) SNV Conflicting interpretations of pathogenicity 126395 rs145588689 GRCh37: 1:154574541-154574541
GRCh38: 1:154602065-154602065
20 ADAR NM_001111.5(ADAR):c.973A>G (p.Thr325Ala) SNV Uncertain significance 540260 rs771889800 GRCh37: 1:154574145-154574145
GRCh38: 1:154601669-154601669
21 ADAR NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) SNV Uncertain significance 292762 rs151241634 GRCh37: 1:154560602-154560602
GRCh38: 1:154588126-154588126
22 ADAR NM_001111.5(ADAR):c.1000C>G (p.Leu334Val) SNV Uncertain significance 838946 GRCh37: 1:154574118-154574118
GRCh38: 1:154601642-154601642
23 ADAR NM_001111.5(ADAR):c.1547G>A (p.Ser516Asn) SNV Uncertain significance 846190 GRCh37: 1:154573571-154573571
GRCh38: 1:154601095-154601095
24 ADAR NM_001111.5(ADAR):c.1024G>T (p.Asp342Tyr) SNV Uncertain significance 856118 GRCh37: 1:154574094-154574094
GRCh38: 1:154601618-154601618
25 ADAR NM_001111.5(ADAR):c.1841G>A (p.Ser614Asn) SNV Uncertain significance 948668 GRCh37: 1:154570397-154570397
GRCh38: 1:154597921-154597921
26 ADAR NM_001111.5(ADAR):c.1327A>G (p.Lys443Glu) SNV Uncertain significance 959107 GRCh37: 1:154573791-154573791
GRCh38: 1:154601315-154601315
27 ADAR NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met) SNV Uncertain significance 961650 GRCh37: 1:154557382-154557382
GRCh38: 1:154584906-154584906
28 ADAR NM_001111.5(ADAR):c.2080-3T>C SNV Uncertain significance 1035551 GRCh37: 1:154569474-154569474
GRCh38: 1:154596998-154596998
29 ADAR NM_001111.5(ADAR):c.403A>G (p.Ile135Val) SNV Uncertain significance 1036390 GRCh37: 1:154574715-154574715
GRCh38: 1:154602239-154602239
30 ADAR NM_001111.5(ADAR):c.869C>G (p.Pro290Arg) SNV Uncertain significance 1037306 GRCh37: 1:154574249-154574249
GRCh38: 1:154601773-154601773
31 ADAR NM_001111.5(ADAR):c.1785+5G>A SNV Uncertain significance 874461 GRCh37: 1:154570873-154570873
GRCh38: 1:154598397-154598397
32 ADAR NM_001111.5(ADAR):c.1526T>C (p.Leu509Ser) SNV Uncertain significance 1037597 GRCh37: 1:154573592-154573592
GRCh38: 1:154601116-154601116
33 ADAR NM_001111.5(ADAR):c.2089A>G (p.Met697Val) SNV Uncertain significance 1037612 GRCh37: 1:154569462-154569462
GRCh38: 1:154596986-154596986
34 ADAR NM_001111.5(ADAR):c.2099A>G (p.Glu700Gly) SNV Uncertain significance 1038539 GRCh37: 1:154569452-154569452
GRCh38: 1:154596976-154596976
35 ADAR NM_001111.5(ADAR):c.3464G>A (p.Arg1155Gln) SNV Uncertain significance 1041359 GRCh37: 1:154557499-154557499
GRCh38: 1:154585023-154585023
36 ADAR NM_001111.5(ADAR):c.686C>T (p.Pro229Leu) SNV Uncertain significance 1042783 GRCh37: 1:154574432-154574432
GRCh38: 1:154601956-154601956
37 ADAR NM_001111.5(ADAR):c.1700C>A (p.Thr567Lys) SNV Uncertain significance 1043921 GRCh37: 1:154570963-154570963
GRCh38: 1:154598487-154598487
38 ADAR NM_001111.5(ADAR):c.2437G>A (p.Ala813Thr) SNV Uncertain significance 1044310 GRCh37: 1:154562719-154562719
GRCh38: 1:154590243-154590243
39 ADAR NM_001111.5(ADAR):c.3062C>T (p.Thr1021Met) SNV Uncertain significance 1044386 GRCh37: 1:154558797-154558797
GRCh38: 1:154586321-154586321
40 ADAR NM_001111.5(ADAR):c.935A>T (p.Asp312Val) SNV Uncertain significance 1044921 GRCh37: 1:154574183-154574183
GRCh38: 1:154601707-154601707
41 ADAR NM_001111.5(ADAR):c.2886-5T>C SNV Uncertain significance 1046223 GRCh37: 1:154560739-154560739
GRCh38: 1:154588263-154588263
42 ADAR NM_001111.5(ADAR):c.1867A>G (p.Met623Val) SNV Uncertain significance 1046359 GRCh37: 1:154570371-154570371
GRCh38: 1:154597895-154597895
43 ADAR NM_001111.5(ADAR):c.1178A>G (p.Asn393Ser) SNV Uncertain significance 1046499 GRCh37: 1:154573940-154573940
GRCh38: 1:154601464-154601464
44 ADAR NM_001111.5(ADAR):c.1079G>A (p.Arg360Gln) SNV Uncertain significance 1046556 GRCh37: 1:154574039-154574039
GRCh38: 1:154601563-154601563
45 ADAR NM_001111.5(ADAR):c.2762+6C>T SNV Uncertain significance 1047342 GRCh37: 1:154561839-154561839
GRCh38: 1:154589363-154589363
46 ADAR NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln) SNV Uncertain significance 806224 rs750048114 GRCh37: 1:154562352-154562352
GRCh38: 1:154589876-154589876
47 ADAR NM_001111.5(ADAR):c.533C>T (p.Ser178Phe) SNV Uncertain significance 1001374 GRCh37: 1:154574585-154574585
GRCh38: 1:154602109-154602109
48 ADAR NM_001111.5(ADAR):c.1106C>T (p.Thr369Met) SNV Uncertain significance 1001426 GRCh37: 1:154574012-154574012
GRCh38: 1:154601536-154601536
49 ADAR NM_001111.5(ADAR):c.3067G>A (p.Asp1023Asn) SNV Uncertain significance 1001755 GRCh37: 1:154558792-154558792
GRCh38: 1:154586316-154586316
50 ADAR NM_001111.5(ADAR):c.1916G>T (p.Gly639Val) SNV Uncertain significance 1002255 GRCh37: 1:154570322-154570322
GRCh38: 1:154597846-154597846

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

72
# 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

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

Pathways related to Dyschromatosis Symmetrica Hereditaria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.92 GRIA2 GABRA3
2 10.85 ADARB2 ADARB1 ADAR ADA
3
Show member pathways
10.72 ADARB1 ADAR
4
Show member pathways
10.52 MAVS ADAR
5
Show member pathways
9.73 ADARB1 ADAR

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 ribonuclease H2 complex GO:0032299 8.8 RNASEH2C RNASEH2B RNASEH2A

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

# Name GO ID Score Top Affiliating Genes
1 RNA processing GO:0006396 9.71 ADARB2 ADARB1 ADAR ADAD2
2 defense response to virus GO:0051607 9.54 MAVS ADARB1 ADAR
3 positive regulation of viral genome replication GO:0045070 9.32 ADARB1 ADAR
4 negative regulation of protein kinase activity by regulation of protein phosphorylation GO:0044387 9.26 ADARB1 ADAR
5 base conversion or substitution editing GO:0016553 9.16 ADARB1 ADAR
6 RNA catabolic process GO:0006401 9.13 RNASEH2C RNASEH2B RNASEH2A
7 adenosine to inosine editing GO:0006382 8.92 ADARB2 ADARB1 ADAR ADAD2

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

# Name GO ID Score Top Affiliating Genes
1 double-stranded RNA binding GO:0003725 9.56 ADARB2 ADARB1 ADAR ADAD2
2 tRNA-specific adenosine deaminase activity GO:0008251 9.46 ADARB2 ADARB1 ADAR ADAD2
3 RNA-DNA hybrid ribonuclease activity GO:0004523 9.32 RNASEH2B RNASEH2A
4 double-stranded RNA adenosine deaminase activity GO:0003726 9.26 ADARB2 ADARB1 ADAR ADAD2
5 adenosine deaminase activity GO:0004000 9.02 ADARB2 ADARB1 ADAR ADAD2 ADA

Sources for Dyschromatosis Symmetrica Hereditaria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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