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DD
MCID: DRR014
MIFTS: 62

Darier-White Disease (DD)

Categories: Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Darier-White Disease

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MalaCards integrated aliases for Darier-White Disease:

Name: Darier-White Disease 58 12 26 60 76 41
Keratosis Follicularis 58 12 54 26 60 76 30 6 15 74
Darier Disease 58 54 26 60 76 38 13 56 45
Darier's Disease 12 77 54 26
Darier Disease, Acral Hemorrhagic Type 30 6
Darier Disease, Segmental 30 6
Dar 58 76
Dd 58 76
Darier Disease Acral Hemorrhagic Type 76
Darier Disease Segmental 76
Darier White Disease 54
Darier Disease; Dd 58

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
darier-white disease:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:2734
OMIM 58 124200
KEGG 38 H00715
MeSH 45 D007644
NCIt 51 C84665
SNOMED-CT 69 48611009
ICD10 34 E50.8
MESH via Orphanet 46 D007644
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C0022595
Orphanet 60 ORPHA218
UMLS 74 C0022595
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Summaries for Darier-White Disease

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OMIM : 58 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-White Disease, also known as keratosis follicularis, is related to grover's disease and benign chronic pemphigus, and has symptoms including seizures An important gene associated with Darier-White Disease is ATP2A2 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2), and among its related pathways/superpathways are Calcium signaling pathway and Developmental Biology. The drugs Miconazole and Salicylic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and liver, and related phenotypes are pruritus and hypermelanotic macule

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Darier''s disease (DAR), also known as Darier disease, Darier–White disease,Dyskeratosis follicularis,... more...

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Related Diseases for Darier-White Disease

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

(show top 50) (show all 289)
# Related Disease Score Top Affiliating Genes
1 grover's disease 30.0 DSP JUP VCL
2 benign chronic pemphigus 29.9 ATP2A2 ATP2C1 CDH3 DSP JUP
3 palmoplantar keratosis 29.8 JUP DSP
4 pemphigus 29.6 ATP2C1 DSC3 DSG4 DSP JUP
5 pemphigus vulgaris 29.4 DSC3 DSG4 DSP JUP
6 dowling-degos disease 29.3 DSC3 DSC2 ATP2A2
7 dilated cardiomyopathy 28.4 VCL JUP DSP DSC2 ATP2A2
8 keratosis follicularis spinulosa decalvans 12.8
9 keratosis follicularis, dwarfism, and cerebral atrophy 12.7
10 keratosis follicularis spinulosa decalvans, x-linked 12.7
11 keratosis follicularis spinulosa decalvans, autosomal dominant 12.6
12 dentin dysplasia, type i 12.0
13 denys-drash syndrome 12.0
14 dentin dysplasia, type ii 12.0
15 dentin dysplasia 11.7
16 acrokeratosis verruciformis 11.6
17 keratosis pilaris atrophicans 11.4
18 mohr-tranebjaerg syndrome 11.3
19 diastrophic dysplasia 11.3
20 ichthyosis follicularis atrichia photophobia syndrome 11.3
21 dissociative disorder 11.1
22 keratosis 10.4
23 lepromatous leprosy 10.4
24 alopecia 10.3
25 elastoma 10.3
26 malaria 10.3
27 cutaneous fibrous histiocytoma 10.2
28 pulmonary tuberculosis 10.2
29 arteries, anomalies of 10.2
30 coronary artery anomaly 10.2
31 atrophic muscular disease 10.2 ATP2A3 ATP2A2
32 microvascular complications of diabetes 3 10.1
33 microvascular complications of diabetes 4 10.1
34 microvascular complications of diabetes 6 10.1
35 microvascular complications of diabetes 7 10.1
36 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1
37 tetanus 10.1
38 epidermolysis bullosa, lethal acantholytic 10.1 JUP DSP
39 keratitis, hereditary 10.1
40 pityriasis rubra pilaris 10.1
41 retinitis pigmentosa 10.1
42 leber congenital amaurosis 4 10.1
43 major affective disorder 4 10.1
44 major affective disorder 8 10.1
45 major affective disorder 7 10.1
46 major affective disorder 9 10.1
47 oral squamous cell carcinoma 10.1
48 dermatomyositis 10.1
49 squamous cell carcinoma 10.1
50 melanoma 10.1

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



Diseases related to Darier-White Disease
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Symptoms & Phenotypes for Darier-White Disease

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Human phenotypes related to Darier-White Disease:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000989
2 hypermelanotic macule 60 33 occasional (7.5%) Very frequent (99-80%) HP:0001034
3 subungual hyperkeratotic fragments 60 33 hallmark (90%) Very frequent (99-80%) HP:0008410
4 acrokeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0200016
5 palmoplantar keratoderma 60 33 frequent (33%) Frequent (79-30%) HP:0000982
6 plantar pits 60 33 frequent (33%) Frequent (79-30%) HP:0010612
7 abnormality of the hair 60 33 frequent (33%) Frequent (79-30%) HP:0001595
8 anal mucosal leukoplakia 60 33 frequent (33%) Frequent (79-30%) HP:0005212
9 skin vesicle 60 33 occasional (7.5%) Occasional (29-5%) HP:0200037
10 seizures 33 HP:0001250
11 intellectual disability, mild 33 HP:0001256
12 abnormality of the nail 60 Very frequent (99-80%)
13 bipolar affective disorder 33 HP:0007302
14 schizophrenia 33 HP:0100753
15 macule 60 Occasional (29-5%)
16 thickened skin 60 Frequent (79-30%)
17 palmar pits 33 HP:0010610
18 abnormality of skin pigmentation 60 Frequent (79-30%)
19 ridged nail 33 HP:0001807
20 enlargement of parotid gland 33 HP:0011801

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
mental retardation, mild

Skin Nails Hair Skin:
palmar pits
plantar pits
brown, warty keratotic papules (trunk, scalp, forehead, flexural areas)
odoriferous,, hypertrophic plaques
keratotic plaques (palms)
more
Head And Neck Mouth:
recurrent parotid gland swelling
oral mucosal lesions (15% of patients)

Skin Nails Hair Skin Electron Microscopy:
loss of desmosomal attachments and perinuclear aggregation of keratin filaments

Neurologic Behavioral Psychiatric Manifestations:
schizophrenia
bipolar disorder

Skin Nails Hair Nails:
subungual hyperkeratotic fragments
nail fragility
distal v-shaped notching
longitudinal ridging
fingernails involved more often than toenails
more
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

UMLS symptoms related to Darier-White Disease:


seizures

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.02 ATP2A2 ATP2C1 CDH3 JUP VCL

MGI Mouse Phenotypes related to Darier-White Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 ATP2A2 ATP2A3 DSC2 DSP JUP VCL
2 integument MP:0010771 9.5 ATP2A2 ATP2C1 CDH3 DSC3 DSG4 DSP
3 muscle MP:0005369 9.02 ATP2A2 ATP2A3 DSP JUP VCL
Sources

Drugs & Therapeutics for Darier-White Disease

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

(show all 13)
# 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, Investigational, Vet_approved Phase 4 69-72-7 338
3 Anti-Infective Agents Phase 4
4 Keratolytic Agents Phase 4
5 Emollients Phase 4
6 Antifungal Agents Phase 4
7 Dermatologic Agents Phase 4
8
Acetylcholine Approved, Investigational Phase 1 51-84-3 187
9 Acetylcholine Release Inhibitors Phase 1
10 Cholinergic Agents Phase 1
11 Neurotransmitter Agents Phase 1
12 Botulinum Toxins Phase 1
13
Acitretin Approved 55079-83-9, 69427-46-9 6437841

Interventional clinical trials:


# 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 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. Completed NCT02782702 Phase 1 Botulism Toxin Treatment
3 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
4 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
5 Cosmetic Study of AO+Mist in Improving the Appearance of Skin Afflicted With Keratosis Pilaris Completed NCT03243617 Not Applicable
6 Treatment of Keratosis Pilaris With 810 nm Diode Laser Completed NCT01281644 Not Applicable
7 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-White Disease

Cochrane evidence based reviews: darier disease

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Genetic Tests for Darier-White Disease

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Genetic tests related to Darier-White Disease:

# Genetic test Affiliating Genes
1 Keratosis Follicularis 30 ATP2A2
2 Darier Disease, Segmental 30
3 Darier Disease, Acral Hemorrhagic Type 30
Sources

Anatomical Context for Darier-White Disease

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MalaCards organs/tissues related to Darier-White Disease:

42
Skin, Tongue, Liver, Testes
Sources

Publications for Darier-White Disease

About this section

Articles related to Darier-White Disease:

(show top 50) (show all 159)
# Title Authors Year
1
Successful Treatment of Keratosis Follicularis Spinulosa Decalvans With an 800-nm Diode Laser. ( 30893172 )
2019
2
Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family. ( 29951998 )
2018
3
Keratosis follicularis squamosa (Dohi) successfully treated with benzoyl peroxide 2.5% gel. ( 29131375 )
2018
4
A rare presentation of keratosis follicularis spinulosa decalvans in female twins. ( 28928337 )
2017
5
Keratosis Follicularis Spinulosa Decalvans with Associated Mental Retardation: Response to Isotretinoin. ( 28932071 )
2017
6
Rare ocular manifestations in keratosis follicularis (Darier-White disease). ( 28905836 )
2017
7
Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. ( 27663151 )
2016
8
Keratosis follicularis spinulosa decalvans. ( 26765129 )
2016
9
Kaposi-Juliusberg varicelliform eruption in patients suffering from Darier-White Disease: a case report and review of the literature. ( 25502366 )
2016
10
Darier-White disease. ( 28329545 )
2016
11
Darier-White disease treated with fractional CO2 laser in two cases. ( 25847535 )
2015
12
Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases. ( 26622157 )
2015
13
Substance P in keratosis follicularis spinulosa decalvans. ( 27051769 )
2015
14
Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin. ( 26515859 )
2015
15
Twenty-Nail Dystrophy and Darier's (Darier-White) Disease. ( 26861433 )
2015
16
Treatment of segmental keratosis follicularis (darier disease) using ablative fractional laser resurfacing. ( 25775447 )
2015
17
A severe fatal case of Darier-White disease-an extreme phenotype or a new entity? ( 27051677 )
2015
18
Recurrent presumed herpes simplex keratitis and episcleritis in keratosis follicularis (Darier's disease). ( 26184361 )
2015
19
Unilateral and pruritic papules: segmental Darier-White disease. ( 25419760 )
2014
20
Keratosis Follicularis Spinulosa Decalvans Associated wA+th Leukonychia. ( 25781302 )
2014
21
Acitretin-induced acral hemorrhagic lesions in Darier-White disease. ( 25566576 )
2014
22
Two cases of keratosis follicularis squamosa (Dohi) caused by swimsuit friction. ( 23608105 )
2013
23
Darier-white disease. ( 23942447 )
2013
24
Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girls. ( 23960394 )
2013
25
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. ( 22816986 )
2012
26
Keratosis follicularis spinulosa decalvans in a female. ( 21508573 )
2011
27
A case of facial keratosis follicularis squamosa resembling atrophic acne scarring, successfully treated with topical pimecrolimus. ( 21220887 )
2011
28
Dermoscopy of keratosis follicularis squamosa. ( 25386278 )
2011
29
Keratosis follicularis spinulosa decalvans: case report. ( 20944916 )
2010
30
Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. ( 20672378 )
2010
31
Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3-7p12.1. ( 20947307 )
2010
32
Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans. ( 20959277 )
2010
33
Darier-White disease in siblings responding to isotretinoin. ( 23130186 )
2010
34
Widespread keratosis follicularis squamosa. ( 19196310 )
2009
35
In vivo confocal microscopy of the cornea in Darier-White disease. ( 19506208 )
2009
36
Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. ( 18984066 )
2009
37
Keratosis follicularis and dermatomyositis: is there a common pathogenesis? ( 19210696 )
2009
38
Keratosis follicularis spinulosa decalvans in a family. ( 18280351 )
2008
39
Carbon dioxide laser ablation and adjunctive destruction for Darier-White disease (keratosis follicularis). ( 18657162 )
2008
40
Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis. ( 18284270 )
2008
41
Postoperative endophthalmitis in a patient with Darier-White disease. ( 17361258 )
2007
42
Keratosis follicularis (Darier-White disease), with an unusual palmoplantar keratoderma. ( 17511940 )
2007
43
Familial keratosis follicularis spinulosa decalvans associated with woolly hair. ( 17651168 )
2007
44
Successful treatment of keratosis follicularis squamosa with topical tacalcitol. ( 16634918 )
2006
45
A case of Kaposi varicelliform eruption in Darier-White disease. ( 15732432 )
2005
46
Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae. ( 16197427 )
2005
47
A 34-year-old man with Darier-White disease: a case report and review of the literature. ( 16422270 )
2005
48
Darier's (Darier-White) disease/keratosis follicularis. ( 15807723 )
2005
49
Darier's disease (keratosis follicularis): gynaecomastia unique hitherto unreported association. ( 15752316 )
2005
50
Keratosis follicularis of the oral mucosa with oral squamous cell carcinoma. ( 15288843 )
2004
Sources

Variations for Darier-White Disease

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

76 (show all 40)
# 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
32 ATP2A2 p.Asn101Ser VAR_079686
33 ATP2A2 p.Leu590Pro VAR_079688
34 ATP2A2 p.Gly625Ala VAR_079689
35 ATP2A2 p.Asp626Glu VAR_079690
36 ATP2A2 p.Ala672Pro VAR_079692
37 ATP2A2 p.Gln691Pro VAR_079693
38 ATP2A2 p.Arg750Trp VAR_079694
39 ATP2A2 p.Ser765Trp VAR_079695
40 ATP2A2 p.Leu900Pro VAR_079697

ClinVar genetic disease variations for Darier-White Disease:

6 (show top 50) (show all 128)
# 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_170665.3(ATP2A2): c.68G> A (p.Gly23Glu) single nucleotide variant Pathogenic rs28929478 GRCh38 Chromosome 12, 110281857: 110281857
3 ATP2A2 NM_001681.3(ATP2A2): c.322C> T (p.Gln108Ter) single nucleotide variant Pathogenic rs121912731 GRCh37 Chromosome 12, 110729927: 110729927
4 ATP2A2 NM_001681.3(ATP2A2): c.322C> T (p.Gln108Ter) single nucleotide variant Pathogenic rs121912731 GRCh38 Chromosome 12, 110292122: 110292122
5 ATP2A2 ATP2A2, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
6 ATP2A2 NM_170665.3(ATP2A2): c.2300A> G (p.Asn767Ser) single nucleotide variant Pathogenic rs121912732 GRCh37 Chromosome 12, 110780235: 110780235
7 ATP2A2 NM_170665.3(ATP2A2): c.2300A> G (p.Asn767Ser) single nucleotide variant Pathogenic rs121912732 GRCh38 Chromosome 12, 110342430: 110342430
8 ATP2A2 NM_001681.3(ATP2A2): c.803G> T (p.Cys268Phe) single nucleotide variant Pathogenic rs121912733 GRCh37 Chromosome 12, 110765530: 110765530
9 ATP2A2 NM_001681.3(ATP2A2): c.803G> T (p.Cys268Phe) single nucleotide variant Pathogenic rs121912733 GRCh38 Chromosome 12, 110327725: 110327725
10 ATP2A2 NM_001681.3(ATP2A2): c.1678T> C (p.Cys560Arg) single nucleotide variant Pathogenic rs121912734 GRCh37 Chromosome 12, 110777443: 110777443
11 ATP2A2 NM_001681.3(ATP2A2): c.1678T> C (p.Cys560Arg) single nucleotide variant Pathogenic rs121912734 GRCh38 Chromosome 12, 110339638: 110339638
12 ATP2A2 ATP2A2, 18-BP INS, IVS2, -12 insertion Pathogenic
13 ATP2A2 NM_001681.3(ATP2A2): c.2264_2266del (p.Asn755del) deletion Pathogenic GRCh37 Chromosome 12, 110780199: 110780201
14 ATP2A2 NM_001681.3(ATP2A2): c.2264_2266del (p.Asn755del) deletion Pathogenic GRCh38 Chromosome 12, 110342394: 110342396
15 ATP2A2 NM_001681.3(ATP2A2): c.2682C> A (p.Tyr894Ter) single nucleotide variant Pathogenic rs121912735 GRCh37 Chromosome 12, 110783128: 110783128
16 ATP2A2 NM_001681.3(ATP2A2): c.2682C> A (p.Tyr894Ter) single nucleotide variant Pathogenic rs121912735 GRCh38 Chromosome 12, 110345323: 110345323
17 ATP2A2 NM_170665.3(ATP2A2): c.2305G> A (p.Gly769Arg) single nucleotide variant Pathogenic rs121912736 GRCh37 Chromosome 12, 110780240: 110780240
18 ATP2A2 NM_170665.3(ATP2A2): c.2305G> A (p.Gly769Arg) single nucleotide variant Pathogenic rs121912736 GRCh38 Chromosome 12, 110342435: 110342435
19 ATP2A2 NM_001681.3(ATP2A2): c.392G> A (p.Arg131Gln) single nucleotide variant Pathogenic rs121912738 GRCh37 Chromosome 12, 110734471: 110734471
20 ATP2A2 NM_001681.3(ATP2A2): c.392G> A (p.Arg131Gln) single nucleotide variant Pathogenic rs121912738 GRCh38 Chromosome 12, 110296666: 110296666
21 ATP2A2 NM_001681.3(ATP2A2): c.219+15delA deletion Uncertain significance rs750221249 GRCh37 Chromosome 12, 110720615: 110720615
22 ATP2A2 NM_001681.3(ATP2A2): c.219+15delA deletion Uncertain significance rs750221249 GRCh38 Chromosome 12, 110282810: 110282810
23 ATP2A2 NM_001681.3(ATP2A2): c.1096-12C> G single nucleotide variant Likely benign rs138711897 GRCh37 Chromosome 12, 110770390: 110770390
24 ATP2A2 NM_001681.3(ATP2A2): c.1096-12C> G single nucleotide variant Likely benign rs138711897 GRCh38 Chromosome 12, 110332585: 110332585
25 ATP2A2 NM_001681.3(ATP2A2): c.-167C> T single nucleotide variant Uncertain significance rs886048947 GRCh38 Chromosome 12, 110281623: 110281623
26 ATP2A2 NM_001681.3(ATP2A2): c.-167C> T single nucleotide variant Uncertain significance rs886048947 GRCh37 Chromosome 12, 110719428: 110719428
27 ATP2A2 NM_001681.3(ATP2A2): c.-15C> T single nucleotide variant Likely benign rs373966549 GRCh38 Chromosome 12, 110281775: 110281775
28 ATP2A2 NM_001681.3(ATP2A2): c.-15C> T single nucleotide variant Likely benign rs373966549 GRCh37 Chromosome 12, 110719580: 110719580
29 ATP2A2 NM_001681.3(ATP2A2): c.136+11C> T single nucleotide variant Uncertain significance rs769052817 GRCh37 Chromosome 12, 110720437: 110720437
30 ATP2A2 NM_001681.3(ATP2A2): c.136+11C> T single nucleotide variant Uncertain significance rs769052817 GRCh38 Chromosome 12, 110282632: 110282632
31 ATP2A2 NM_001681.3(ATP2A2): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs772617747 GRCh37 Chromosome 12, 110770428: 110770428
32 ATP2A2 NM_001681.3(ATP2A2): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs772617747 GRCh38 Chromosome 12, 110332623: 110332623
33 ATP2A2 NM_001681.3(ATP2A2): c.1167T> C (p.Tyr389=) single nucleotide variant Benign/Likely benign rs115016152 GRCh37 Chromosome 12, 110770473: 110770473
34 ATP2A2 NM_001681.3(ATP2A2): c.1167T> C (p.Tyr389=) single nucleotide variant Benign/Likely benign rs115016152 GRCh38 Chromosome 12, 110332668: 110332668
35 ATP2A2 NM_001681.3(ATP2A2): c.1878C> T (p.Asp626=) single nucleotide variant Uncertain significance rs375770050 GRCh37 Chromosome 12, 110778580: 110778580
36 ATP2A2 NM_001681.3(ATP2A2): c.1878C> T (p.Asp626=) single nucleotide variant Uncertain significance rs375770050 GRCh38 Chromosome 12, 110340775: 110340775
37 ATP2A2 NM_001681.3(ATP2A2): c.2185G> A (p.Ala729Thr) single nucleotide variant Uncertain significance rs886048953 GRCh38 Chromosome 12, 110342315: 110342315
38 ATP2A2 NM_001681.3(ATP2A2): c.2185G> A (p.Ala729Thr) single nucleotide variant Uncertain significance rs886048953 GRCh37 Chromosome 12, 110780120: 110780120
39 ATP2A2 NM_001681.3(ATP2A2): c.*40G> A single nucleotide variant Uncertain significance rs772831610 GRCh38 Chromosome 12, 110350345: 110350345
40 ATP2A2 NM_001681.3(ATP2A2): c.2742-6C> T single nucleotide variant Uncertain significance rs201579013 GRCh38 Chromosome 12, 110345995: 110345995
41 ATP2A2 NM_001681.3(ATP2A2): c.2742-6C> T single nucleotide variant Uncertain significance rs201579013 GRCh37 Chromosome 12, 110783800: 110783800
42 ATP2A2 NM_001681.3(ATP2A2): c.2860-5_2860-4delGT deletion Likely benign rs372303998 GRCh38 Chromosome 12, 110346196: 110346197
43 ATP2A2 NM_001681.3(ATP2A2): c.2860-5_2860-4delGT deletion Likely benign rs372303998 GRCh37 Chromosome 12, 110784001: 110784002
44 ATP2A2 NM_001681.3(ATP2A2): c.*40G> A single nucleotide variant Uncertain significance rs772831610 GRCh37 Chromosome 12, 110788150: 110788150
45 ATP2A2 NM_001681.3(ATP2A2): c.*628A> G single nucleotide variant Uncertain significance rs775478812 GRCh38 Chromosome 12, 110350933: 110350933
46 ATP2A2 NM_001681.3(ATP2A2): c.*628A> G single nucleotide variant Uncertain significance rs775478812 GRCh37 Chromosome 12, 110788738: 110788738
47 ATP2A2 NM_001681.3(ATP2A2): c.*764G> A single nucleotide variant Uncertain significance rs533684938 GRCh38 Chromosome 12, 110351069: 110351069
48 ATP2A2 NM_001681.3(ATP2A2): c.*764G> A single nucleotide variant Uncertain significance rs533684938 GRCh37 Chromosome 12, 110788874: 110788874
49 ATP2A2 NM_001681.3(ATP2A2): c.*148A> C single nucleotide variant Uncertain significance rs749127178 GRCh38 Chromosome 12, 110350453: 110350453
50 ATP2A2 NM_001681.3(ATP2A2): c.*148A> C single nucleotide variant Uncertain significance rs749127178 GRCh37 Chromosome 12, 110788258: 110788258

Copy number variations for Darier-White Disease from CNVD:

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

Expression for Darier-White Disease

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Search GEO for disease gene expression data for Darier-White Disease.
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Pathways for Darier-White Disease

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Pathways related to Darier-White Disease according to KEGG:

38
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020

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

# Super pathways Score Top Affiliating Genes
1
Developmental Biology 67
Show member pathways
 13.01 DSC2 DSC3 DSG4 DSP JUP VCL
2
Cardiac conduction 67
Show member pathways
 12.4 ATP2A2 ATP2A3 ATP2C1 VCL
3
Ion channel transport 67
Show member pathways
 12.13 ATP2A2 ATP2A3 ATP2C1
4
Keratinization 67
Show member pathways
 11.81 DSC2 DSC3 DSG4 DSP JUP
5
Adhesion 4
11.55 CDH3 DSP JUP VCL
6
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 38
Show member pathways
 11.43 ATP2A2 DSC2 DSP JUP VCL
7
Celecoxib Pathway, Pharmacodynamics 62
11.24 ATP2A2 ATP2A3
8
Antiarrhythmic Pathway, Pharmacodynamics 62
11.18 ATP2A2 DSP JUP
9
Cell adhesion_Cadherin-mediated cell adhesion 23
11.03 CDH3 JUP
10
Cell adhesion_Endothelial cell contacts by junctional mechanisms 23
10.91 DSP JUP
Sources

GO Terms for Darier-White Disease

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.8 DSC2 DSC3 DSG4 DSP JUP VCL
2 cell-cell junction GO:0005911 9.67 DSC3 DSP JUP VCL
3 intercalated disc GO:0014704 9.58 DSC2 DSP JUP
4 cell-cell adherens junction GO:0005913 9.56 CDH3 DSC2 JUP VCL
5 specific granule lumen GO:0035580 9.54 JUP VCL
6 sarcoplasmic reticulum GO:0016529 9.52 ATP2A2 ATP2A3
7 sarcoplasmic reticulum membrane GO:0033017 9.51 ATP2A2 ATP2A3
8 catenin complex GO:0016342 9.49 CDH3 JUP
9 platelet dense tubular network membrane GO:0031095 9.46 ATP2A2 ATP2A3
10 zonula adherens GO:0005915 9.43 JUP VCL
11 cornified envelope GO:0001533 9.35 DSC2 DSC3 DSG4 DSP JUP
12 fascia adherens GO:0005916 9.33 DSP JUP VCL
13 desmosome GO:0030057 9.02 DSC2 DSC3 DSG4 DSP JUP
14 membrane GO:0016020 10.18 ATP2A2 ATP2A3 ATP2C1 CDH3 DSC2 DSC3

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.73 CDH3 DSC2 DSC3 DSG4
2 calcium ion transport GO:0006816 9.72 ATP2A2 ATP2A3 ATP2C1
3 calcium ion transmembrane transport GO:0070588 9.71 ATP2A2 ATP2A3 ATP2C1
4 cell-cell adhesion GO:0098609 9.71 CDH3 DSG4 DSP JUP
5 proton transmembrane transport GO:1902600 9.7 ATP2A2 ATP2A3 ATP2C1
6 cell adhesion GO:0007155 9.7 ATP2A2 CDH3 DSC2 DSC3 DSG4 JUP
7 epidermis development GO:0008544 9.69 ATP2A2 ATP2C1 DSP
8 cellular calcium ion homeostasis GO:0006874 9.67 ATP2A2 ATP2A3 ATP2C1
9 adherens junction organization GO:0034332 9.65 CDH3 DSP JUP
10 regulation of heart rate by cardiac conduction GO:0086091 9.63 DSC2 DSP JUP
11 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.58 ATP2C1 CDH3
12 skin development GO:0043588 9.57 DSP JUP
13 regulation of cardiac conduction GO:1903779 9.56 ATP2A2 ATP2A3
14 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.54 ATP2A2 ATP2A3 ATP2C1
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 DSC2 DSP JUP
16 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.43 DSC2 DSP JUP
17 cornification GO:0070268 9.35 DSC2 DSC3 DSG4 DSP JUP
18 keratinization GO:0031424 9.1 CDH3 DSC2 DSC3 DSG4 DSP JUP

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.95 ATP2A2 ATP2A3 ATP2C1 CDH3 DSC2 DSC3
2 calcium ion binding GO:0005509 9.65 ATP2A2 CDH3 DSC2 DSC3 DSG4
3 cadherin binding GO:0045296 9.61 CDH3 JUP VCL
4 structural molecule activity GO:0005198 9.54 DSP JUP VCL
5 cell adhesion molecule binding GO:0050839 9.46 DSP JUP
6 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.33 ATP2A2 ATP2A3 ATP2C1
7 alpha-catenin binding GO:0045294 9.32 JUP VCL
8 calcium-transporting ATPase activity GO:0005388 9.13 ATP2A2 ATP2A3 ATP2C1
9 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 DSC2 DSP JUP
Sources

Sources for Darier-White Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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