MCID: DRR010
MIFTS: 59

Darier Disease

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Darier Disease

MalaCards integrated aliases for Darier Disease:

Name: Darier Disease 54 50 24 25 56 71 13 52 42
Keratosis Follicularis 12 50 24 25 56 71 29 14 69
Darier-White Disease 12 24 25 56 71
Darier's Disease 12 50 25
Darier Disease, Acral Hemorrhagic Type 29
Darier Disease Acral Hemorrhagic Type 71
Darier Disease, Segmental 29
Darier Disease Segmental 71
Darier White Disease 50
Dar 71
Dd 71

Characteristics:

Orphanet epidemiological data:

56
darier disease
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Slovenia),1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
age of onset, 6-20 years
skin lesions exacerbated by heat, exercise (sweating), and sunlight
acral hemorrhagic variant
itch, pain, and body malodor often
allelic to acrokeratosis verruciformis


HPO:

32
darier disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


Summaries for Darier Disease

OMIM : 54
Darier-White disease, also known as keratosis follicularis, is an autosomal dominant skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and distinctive nail abnormalities (Sakuntabhai et al., 1999). Onset is usually before the third decade, and penetrance is complete in adults, although expressivity is variable. Involvement may be severe, with widespread itchy malodorous crusted plaques, painful erosions, blistering, and mucosal lesions. Secondary infection is common. Sun, heat, and sweating exacerbate the symptoms. Darier disease never remits, but oral retinoids may reduce hyperkeratosis. Neuropsychiatric abnormalities, including mild mental retardation and epilepsy, have been described in association with Darier disease in a few families (Burge and Wilkinson, 1992); whether this is an association based on pleiotropism of the mutant gene or reflects coincidence is not clear. Histologic findings are (1) mild nonspecific perivascular infiltration in the dermis; (2) dermal villi protruding into the epidermis; (3) suprabasal detachment of the spinal layer leading to the formation of lacunae containing acantholytic cells; (4) in the more superficial epidermis, dyskeratotic round epidermal cells ('corps ronds'), the most distinctive feature; and (5) in the stratum corneum, 'grains' that resemble parakeratotic cells embedded in a hyperkeratotic horny layer. Electron microscopy reveals loss of desmosomal attachments, perinuclear aggregations of keratin filaments, and cytoplasmic vacuolization. Ultrastructural and immunologic studies suggest the disease results from an abnormality in the desmosome-keratin filament complex leading to a breakdown in cell adhesion. (124200)

MalaCards based summary : Darier Disease, also known as keratosis follicularis, is related to acrokeratosis verruciformis and keratosis follicularis spinulosa decalvans, and has symptoms including palmoplantar keratoderma, pruritus and plantar pits. An important gene associated with Darier Disease is ATP2A2 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2), and among its related pathways/superpathways are Cardiac conduction and Cytoskeletal Signaling. The drugs Miconazole and Salicylic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and bone, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and cardiovascular system

NIH Rare Diseases : 50 darier disease is an inherited skin condition characterized by wart-like blemishes on the body. they usually first appear in late childhood or early adulthood and often occur on the scalp, forehead, upper arms, chest, back, knees, elbows, and/or behind the ear. other features of darier disease may include nail abnormalities, such as red and white streaks in the nails with an irregular texture; and small pits in the palms of the hands and soles of the feet. the severity of the disease varies over time. some people have a more localized form of the disease known as the linear or segmental form. darier disease is not an infection and the blemishes are not contagious. it is caused by mutations in the atp2a2 gene and is inherited in an autosomal dominant manner. however, not all people with a mutation in this gene will develop the disease. treatment is not always needed but may include the use of moisturizers and sunscreen; staying cool; dermabrasion; and/or oral or topical retinoids. last updated: 11/29/2016

UniProtKB/Swiss-Prot : 71 Darier disease: A skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp and forehead), palmoplantar pits and distinctive nail abnormalities. It is due to loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Patients with mild disease may have no more than a few scattered keratotic papules or subtle nail changes, whereas those with severe disease are handicapped by widespread malodorous keratotic plaques. Some patients present with hemorrhage into acantholytic vesicles on the palms and dorsal aspects of the fingers which gives rise to black macules. In a few families affected by Darier disease, neuropsychiatric abnormalities such as mild mental retardation, schizophrenia, bipolar disorder and epilepsy have been reported. Stress, UV exposure, heat, sweat, friction and oral contraception exacerbate disease symptoms. Clinical variants of Darier disease include hypertrophic, vesicobullous, hypopigmented, cornifying, zosteriform or linear, acute and comedonal subtypes. Comedonal Darier disease is characterized by the coexistence of acne-like comedonal lesions with typical Darier hyperkeratotic papules on light-exposed areas. At histopathologic level, comedonal Darier disease differs from classic Darier disease in the prominent follicular involvement and the presence of greatly elongated dermal villi.

Genetics Home Reference : 25 Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. The mucous membranes can also be affected, with blemishes on the roof of the mouth (palate), tongue, inside of the cheek, gums, and throat. Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet.

Related Diseases for Darier Disease

Diseases related to Darier Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
id Related Disease Score Top Affiliating Genes
1 acrokeratosis verruciformis 26.7 ATP2A2 ATP2A3 ATP2C1 CDH1 CDH3 DSC2
2 keratosis follicularis spinulosa decalvans 12.5
3 keratosis follicularis spinulosa decalvans, x-linked 12.4
4 keratosis follicularis, dwarfism, and cerebral atrophy 12.4
5 dentin dysplasia, type i, with microdontia and misshapen teeth 11.7
6 denys-drash syndrome 11.6
7 dentin dysplasia, type ii 11.6
8 keratosis pilaris atrophicans 11.2
9 ichthyosis follicularis atrichia photophobia syndrome 11.0
10 warty dyskeratoma 11.0
11 diastrophic dysplasia 10.9
12 mohr-tranebjaerg syndrome 10.9
13 dissociative disorder 10.8
14 dentin dysplasia 10.7
15 dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 10.5 DSP JUP
16 arrhythmogenic right ventricular dysplasia 8 10.5 DSP JUP
17 major affective disorder 4 10.4 ATP2A2 ATP2A3
18 vesicoureteral reflux 7 10.4 DSP JUP
19 skin fragility-woolly hair syndrome 10.4 DSP JUP
20 loeys-dietz syndrome 5 10.3 DSP JUP
21 dermatitis herpetiformis 10.2 ATP2A2 ATP2C1 DSP
22 pyloric antrum cancer 10.2 CDH1 JUP
23 acute pulmonary heart disease 10.1 ATP2A2 DSC2
24 carotid artery disease 10.1 DSP JUP
25 dyskinesia of esophagus 10.1 ATP2C1 DSP JUP
26 classic hairy cell leukemia 10.1 DSC2 DSP
27 ectodermal dysplasia, ectrodactyly, and macular dystrophy 10.1 CDH1 CDH3
28 telangiectasia, hereditary hemorrhagic, type 2 10.0 ATP2A2 JUP
29 ptosis 10.0 ATP2A2 DSC2
30 peripheral t-cell lymphoma 10.0 CDH1 DSP JUP
31 ulnar hemimelia, unilateral 10.0 DSC2 DSP JUP
32 ulnar hemimelia, bilateral 10.0 DSC2 DSP JUP
33 tibial hemimelia, bilateral 10.0 DSC2 DSP JUP
34 hypercholesterolemia, familial 10.0 DSC2 DSP JUP
35 amyotrophic lateral sclerosis type 10 10.0 CDH1 CDH3
36 ectodermal dysplasia/skin fragility syndrome 10.0 DSC2 DSP JUP
37 arrhythmogenic right ventricular dysplasia 12 10.0 DSC2 DSP JUP
38 artery disease 10.0
39 coronary artery disease 10.0
40 autoimmune disease of skin and connective tissue 10.0 DSC2 DSP JUP
41 hailey-hailey disease 10.0
42 endotheliitis 9.9
43 diffuse mesangial sclerosis 9.9 CDH1 CDH3
44 usher syndrome 9.9 DSC2 DSP JUP
45 schistosomiasis 9.9
46 myocardial infarction 9.8
47 urinary schistosomiasis 9.8
48 leprosy 9.8
49 eczema herpeticum 9.8
50 primary congenital glaucoma 9.7 CDH1 CDH3 DSP

Graphical network of the top 20 diseases related to Darier Disease:



Diseases related to Darier Disease

Symptoms & Phenotypes for Darier Disease

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
seizures
mental retardation, mild

Skin Nails & Hair- Nails:
longitudinal ridging
fingernails involved more often than toenails
longitudinal white or red subungual streaks
distal v-shaped notching
nail fragility
more
Skin Nails & Hair- Skin:
brown, warty keratotic papules (trunk, scalp, forehead, flexural areas)
palmar pits
plantar pits
odoriferous,, hypertrophic plaques
keratotic plaques (palms)
more
Skin Nails & Hair- Skin Electron Microscopy:
loss of desmosomal attachments and perinuclear aggregation of keratin filaments

Neurologic- Behavioral Psychiatric Manifestations:
schizophrenia
bipolar disorder

Head And Neck- Mouth:
recurrent parotid gland swelling
oral mucosal lesions (15% of patients)

Skin Nails & Hair- Skin Histology:
acantholysis (cell separation) in the suprabasal layer of the epidermis with premature differentiation and hyperkeratinization of the epidermis


Clinical features from OMIM:

124200

Human phenotypes related to Darier Disease:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 56 32 frequent (33%) Frequent (79-30%) HP:0000982
2 pruritus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000989
3 plantar pits 56 32 frequent (33%) Frequent (79-30%) HP:0010612
4 subungual hyperkeratotic fragments 56 32 hallmark (90%) Very frequent (99-80%) HP:0008410
5 anal mucosal leukoplakia 56 32 frequent (33%) Frequent (79-30%) HP:0005212
6 acrokeratosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0200016
7 hypermelanotic macule 56 32 occasional (7.5%) Very frequent (99-80%) HP:0001034
8 abnormality of the hair 56 32 frequent (33%) Frequent (79-30%) HP:0001595
9 skin vesicle 56 32 occasional (7.5%) Occasional (29-5%) HP:0200037
10 seizures 32 HP:0001250
11 intellectual disability, mild 32 HP:0001256
12 schizophrenia 32 HP:0100753
13 thickened skin 56 Frequent (79-30%)
14 palmar pits 32 HP:0010610
15 bipolar affective disorder 32 HP:0007302
16 abnormality of the nail 56 Very frequent (99-80%)
17 macule 56 Occasional (29-5%)
18 abnormality of skin pigmentation 56 Frequent (79-30%)
19 ridged nail 32 HP:0001807
20 enlargement of parotid gland 32 HP:0011801

UMLS symptoms related to Darier Disease:


seizures

GenomeRNAi Phenotypes related to Darier Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.1 ATP2A2 ATP2C1 CDH3 JUP KRT4 VCL

MGI Mouse Phenotypes related to Darier Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 VCL ATP2A2 ATP2A3 CDH1 DSC2 DSP
2 digestive/alimentary MP:0005381 9.65 ATP2A2 CDH1 DSP KRT4 VCL
3 embryo MP:0005380 9.63 ATP2A2 ATP2C1 CDH1 DSP JUP VCL
4 integument MP:0010771 9.5 ATP2A2 ATP2C1 CDH1 CDH3 DSP JUP
5 muscle MP:0005369 9.02 ATP2A2 ATP2A3 DSP JUP VCL

Drugs & Therapeutics for Darier Disease

Drugs for Darier Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
2
Salicylic acid Approved, Vet_approved Phase 4 69-72-7 338
3 Dermatologic Agents Phase 4,Phase 1
4 Keratolytic Agents Phase 4
5 Antifungal Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Emollients Phase 4
8
Isotretinoin Approved Phase 1 4759-48-2 5538 5282379
9
Acetylcholine Approved Phase 1 51-84-3 187
10 Botulinum Toxins Phase 1
11 Cholinergic Agents Phase 1
12 Neurotransmitter Agents Phase 1
13
Acitretin Approved 55079-83-9 6437841 5284513

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Salkera Emollient Foam in the Treatment of Moderate to Severe Keratosis Pilaris, a Prospective Study Terminated NCT00944216 Phase 4 Salkera Emollient Foam
2 Bioequivalence Study for an Isotretinoin Completed NCT01863615 Phase 1 Isotretinoin 40 mg;Isotretinoin 40 mg
3 Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds. Active, not recruiting NCT02782702 Phase 1 Botulism Toxin Treatment
4 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
5 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
6 Treatment of Keratosis Pilaris With 810 nm Diode Laser Completed NCT01281644
7 Cosmetic Study of AO+Mist in Improving the Appearance of Skin Afflicted With Keratosis Pilaris Completed NCT03243617
8 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660

Search NIH Clinical Center for Darier Disease

Cochrane evidence based reviews: darier disease

Genetic Tests for Darier Disease

Genetic tests related to Darier Disease:

id Genetic test Affiliating Genes
1 Keratosis Follicularis 29
2 Darier Disease, Segmental 29
3 Darier Disease, Acral Hemorrhagic Type 29
4 Darier-White Disease 24 ATP2A2

Anatomical Context for Darier Disease

MalaCards organs/tissues related to Darier Disease:

39
Skin, Tongue, Bone, Heart

Publications for Darier Disease

Articles related to Darier Disease:

(show top 50) (show all 81)
id Title Authors Year
1
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. ( 28498512 )
2017
2
Other Faces of Darier Disease. ( 28526125 )
2017
3
Brief Report: HPV-17 Infection in Darier Disease With Acrokeratosis Verrucosis of Hopf. ( 28426487 )
2017
4
Darier disease: A rare genodermatosis. ( 28932054 )
2017
5
Acral Hemorrhagic Darier Disease. ( 28407871 )
2017
6
Unilateral monomorphic hypopigmented macules: A variant of Darier disease. ( 28195078 )
2017
7
Successful treatment of refractory Darier disease with alitretinoin with a follow up of over a year: a case report. ( 27272615 )
2016
8
Darier disease. ( 26945535 )
2016
9
Papulovesicular Eruption in a Pregnant Woman With Darier Disease. ( 27902815 )
2016
10
Acrokeratosis verruciformis of Hopf exhibiting Darier disease-like cytological features. ( 27663152 )
2016
11
Evaluating the genotypes and neuropsychiatric phenotypes in Darier disease. ( 27002576 )
2016
12
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease. ( 28035777 )
2016
13
Darier Disease Complicated by Terbinafine-resistant Trichophyton rubrum: A Case Report. ( 27171353 )
2016
14
Response to "Darier Disease in Israel: combined evaluation of genetic and neuropsychiatric aspects". ( 26987890 )
2016
15
Darier disease: candy-cane nails and hyperkeratotic papules. ( 27009298 )
2016
16
Renal involvement in Darier disease. ( 27846974 )
2016
17
A Report of Two Patients with Darier Disease and Hidradenitis Suppurativa. ( 27282829 )
2016
18
Dye Laser Treatment for Darier Disease: Results of a Case Series. ( 27082141 )
2016
19
Response to 'Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects': reply from the authors. ( 27272550 )
2016
20
Dowling-Degos disease co-presenting with Darier disease. ( 26685052 )
2016
21
Guttate leukoderma in Darier disease: case report and review. ( 26853929 )
2016
22
[Analysis of ATP2A2 gene mutations in a pedigree and a sporadic case with Darier disease]. ( 27577212 )
2016
23
A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease. ( 27595213 )
2016
24
Exacerbation of Darier Disease under Interferon-I+-2a Therapy with Clinical Signs of Lichen Nitidus. ( 27721754 )
2016
25
Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease. ( 26154588 )
2015
26
Darier disease: discrete phenotype in a Sinhalese patient with Darier disease. ( 24980801 )
2015
27
Darier disease can be complicated by generalized cutaneous candidiasis: a case report. ( 25142759 )
2015
28
Intellectual disability and cognitive ability in Darier disease: Swedish nation-wide study. ( 25704118 )
2015
29
Extensive Darier Disease Successfully Treated with Doxycycline Monotherapy. ( 26594170 )
2015
30
Darier disease in israel: combined evaluation of genetic and neuropsychiatric aspects. ( 26471493 )
2015
31
Darier disease: Dermoscopy, confocal microscopy, and histologic correlations. ( 26282823 )
2015
32
Treatment of segmental keratosis follicularis (darier disease) using ablative fractional laser resurfacing. ( 25775447 )
2015
33
SERCA2 Haploinsufficiency in a Mouse Model of Darier Disease Causes a Selective Predisposition to Heart Failure. ( 26064889 )
2015
34
Exon 12 of the ATP2A2 gene in patients with Darier disease: one novel mutation and one previously described. ( 24552170 )
2015
35
Segmental type 1 Darier disease: a case series highlighting late-onset disease. ( 25639290 )
2015
36
Darier disease: A fold (intertriginous) dermatosis. ( 26051059 )
2015
37
An unusual case of Darier disease complicated with a parasitic infestation. ( 26137743 )
2015
38
Hypopigmented segmental Darier disease. ( 25775667 )
2015
39
Kaposi varicelliform eruption in patients with Darier disease: a 20-year retrospective study. ( 25582540 )
2015
40
Two novel missense mutations of ATP2A2 in two Chinese patients with sporadic Darier disease. ( 25283811 )
2015
41
Alitretinoin and Darier disease: "All that glisters is not gold". ( 25592350 )
2015
42
The association between Darier disease, bipolar disorder, and schizophrenia revisited: a population-based family study. ( 25213221 )
2015
43
Improvement of Darier disease with diclofenac sodium 3% gel. ( 24629373 )
2014
44
SERCA2 dysfunction in Darier disease causes endoplasmic reticulum stress and impaired cell-to-cell adhesion strength: rescue by Miglustat. ( 24390139 )
2014
45
Efficacy of oral alitretinoin for the treatment of Darier disease: a case report. ( 25037810 )
2014
46
A novel missense mutation of ATP2A2 gene in a Chinese family with Darier disease. ( 23621824 )
2014
47
[Darier disease]. ( 23337962 )
2013
48
Novel ATP2A2 mutations in a large sample of individuals with Darier disease. ( 23356892 )
2013
49
Papular acantholytic dermatosis in the genito-crural region: a localized form of darier disease or hailey-hailey disease? ( 22995947 )
2013
50
Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease. ( 22814319 )
2012

Variations for Darier Disease

UniProtKB/Swiss-Prot genetic disease variations for Darier Disease:

71 (show all 31)
id Symbol AA change Variation ID SNP ID
1 ATP2A2 p.Gly23Glu VAR_008608 rs28929478
2 ATP2A2 p.Asn39Thr VAR_008609
3 ATP2A2 p.Leu65Ser VAR_008611
4 ATP2A2 p.Arg131Gln VAR_008612 rs121912738
5 ATP2A2 p.Pro160Leu VAR_008613
6 ATP2A2 p.Ser186Pro VAR_008614
7 ATP2A2 p.Gly211Asp VAR_008615
8 ATP2A2 p.Val223Met VAR_008616
9 ATP2A2 p.Cys268Phe VAR_008617 rs121912733
10 ATP2A2 p.Gly310Val VAR_008618
11 ATP2A2 p.Cys318Arg VAR_008619
12 ATP2A2 p.Ile348Thr VAR_008620
13 ATP2A2 p.Glu412Gly VAR_008621
14 ATP2A2 p.Ser495Phe VAR_008622
15 ATP2A2 p.Cys560Arg VAR_008623 rs121912734
16 ATP2A2 p.Phe675Ser VAR_008624
17 ATP2A2 p.Lys683Glu VAR_008625
18 ATP2A2 p.Asp702Asn VAR_008626
19 ATP2A2 p.Ala745Asp VAR_008627
20 ATP2A2 p.Ser765Leu VAR_008629
21 ATP2A2 p.Asn767Ser VAR_008630 rs121912732
22 ATP2A2 p.Gly769Arg VAR_008631 rs121912736
23 ATP2A2 p.Ala803Thr VAR_008632
24 ATP2A2 p.Ala838Pro VAR_008633
25 ATP2A2 p.Val843Phe VAR_008634
26 ATP2A2 p.Cys875Gly VAR_008635
27 ATP2A2 p.Ser920Tyr VAR_008636
28 ATP2A2 p.His943Arg VAR_008637
29 ATP2A2 p.Pro975Arg VAR_008638
30 ATP2A2 p.Thr357Lys VAR_009508
31 ATP2A2 p.Gly749Arg VAR_009509

ClinVar genetic disease variations for Darier Disease:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP2A2 NM_170665.3(ATP2A2): c.68G> A (p.Gly23Glu) single nucleotide variant Pathogenic rs28929478 GRCh37 Chromosome 12, 110719662: 110719662
2 ATP2A2 NM_001681.3(ATP2A2): c.322C> T (p.Gln108Ter) single nucleotide variant Pathogenic rs121912731 GRCh37 Chromosome 12, 110729927: 110729927
3 ATP2A2 ATP2A2, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
4 ATP2A2 NM_170665.3(ATP2A2): c.2300A> G (p.Asn767Ser) single nucleotide variant Pathogenic rs121912732 GRCh37 Chromosome 12, 110780235: 110780235
5 ATP2A2 NM_001681.3(ATP2A2): c.803G> T (p.Cys268Phe) single nucleotide variant Pathogenic rs121912733 GRCh37 Chromosome 12, 110765530: 110765530
6 ATP2A2 NM_001681.3(ATP2A2): c.1678T> C (p.Cys560Arg) single nucleotide variant Pathogenic rs121912734 GRCh37 Chromosome 12, 110777443: 110777443
7 ATP2A2 ATP2A2, 18-BP INS, IVS2, -12 insertion Pathogenic
8 ATP2A2 ATP2A2, ASN754 DEL deletion Pathogenic
9 ATP2A2 NM_001681.3(ATP2A2): c.2682C> A (p.Tyr894Ter) single nucleotide variant Pathogenic rs121912735 GRCh37 Chromosome 12, 110783128: 110783128
10 ATP2A2 NM_170665.3(ATP2A2): c.2305G> A (p.Gly769Arg) single nucleotide variant Pathogenic rs121912736 GRCh37 Chromosome 12, 110780240: 110780240
11 ATP2A2 NM_001681.3(ATP2A2): c.392G> A (p.Arg131Gln) single nucleotide variant Pathogenic rs121912738 GRCh37 Chromosome 12, 110734471: 110734471

Copy number variations for Darier Disease from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 62501 12 109203414 109273280 Microdeletion ATP2A2 Darier disease

Expression for Darier Disease

Search GEO for disease gene expression data for Darier Disease.

Pathways for Darier Disease

Pathways related to Darier Disease according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 ATP2A2 ATP2A3 ATP2C1 VCL
2 12.15 CDH1 JUP KRT4 VCL
3
Show member pathways
12.08 DSC2 DSP JUP KRT4
4
Show member pathways
11.76 ATP2A2 DSC2 DSP JUP VCL
5 11.18 ATP2A2 DSP JUP
6 11.14 CDH1 JUP
7 11.08 CDH1 VCL
8 11.06 CDH1 CDH3 DSP JUP VCL
9 10.98 CDH1 JUP
10 10.94 DSP JUP
11 10.93 CDH1 CDH3 JUP

GO Terms for Darier Disease

Cellular components related to Darier Disease according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.85 CDH1 DSC2 DSP JUP VCL
2 actin cytoskeleton GO:0015629 9.69 CDH1 JUP VCL
3 intermediate filament GO:0005882 9.67 DSP JUP KRT4
4 cell-cell junction GO:0005911 9.65 DSP JUP VCL
5 sarcoplasmic reticulum GO:0016529 9.55 ATP2A2 ATP2A3
6 cytoplasmic side of plasma membrane GO:0009898 9.54 CDH1 JUP
7 sarcoplasmic reticulum membrane GO:0033017 9.52 ATP2A2 ATP2A3
8 cornified envelope GO:0001533 9.5 DSC2 DSP JUP
9 catenin complex GO:0016342 9.43 CDH1 JUP
10 intercalated disc GO:0014704 9.43 DSC2 DSP JUP
11 platelet dense tubular network membrane GO:0031095 9.4 ATP2A2 ATP2A3
12 zonula adherens GO:0005915 9.37 JUP VCL
13 desmosome GO:0030057 9.33 DSC2 DSP JUP
14 fascia adherens GO:0005916 9.13 DSP JUP VCL
15 cell-cell adherens junction GO:0005913 9.02 CDH1 CDH3 DSC2 JUP VCL

Biological processes related to Darier Disease according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 ATP2A2 CDH1 CDH3 DSC2 JUP VCL
2 ion transmembrane transport GO:0034220 9.75 ATP2A2 ATP2A3 ATP2C1
3 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.72 CDH1 CDH3 DSC2
4 calcium ion transport GO:0006816 9.71 ATP2A2 ATP2A3 ATP2C1
5 cornification GO:0070268 9.71 DSC2 DSP JUP KRT4
6 calcium ion transmembrane transport GO:0070588 9.7 ATP2A2 ATP2A3 ATP2C1
7 epidermis development GO:0008544 9.69 ATP2A2 ATP2C1 DSP
8 single organismal cell-cell adhesion GO:0016337 9.67 CDH1 CDH3 DSP JUP
9 regulation of heart rate by cardiac conduction GO:0086091 9.63 DSC2 DSP JUP
10 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.61 ATP2A2 ATP2A3 ATP2C1
11 skin development GO:0043588 9.57 DSP JUP
12 establishment of protein localization to plasma membrane GO:0090002 9.56 CDH1 JUP
13 keratinization GO:0031424 9.55 CDH3 DSC2 DSP JUP KRT4
14 adherens junction assembly GO:0034333 9.49 JUP VCL
15 cellular response to indole-3-methanol GO:0071681 9.48 CDH1 JUP
16 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.43 DSC2 DSP JUP
17 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 DSC2 DSP JUP
18 adherens junction organization GO:0034332 8.92 CDH1 CDH3 DSP JUP

Molecular functions related to Darier Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.67 ATP2A2 CDH1 CDH3 DSC2
2 cadherin binding GO:0045296 9.58 CDH1 JUP VCL
3 structural molecule activity GO:0005198 9.46 DSP JUP KRT4 VCL
4 cell adhesion molecule binding GO:0050839 9.43 CDH1 DSP JUP
5 alpha-catenin binding GO:0045294 9.32 JUP VCL
6 calcium-transporting ATPase activity GO:0005388 9.13 ATP2A2 ATP2A3 ATP2C1
7 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 DSC2 DSP JUP

Sources for Darier Disease

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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