DD
MCID: DRR014
MIFTS: 61

Darier-White Disease (DD)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Darier-White Disease

MalaCards integrated aliases for Darier-White Disease:

Name: Darier-White Disease 57 12 25 59 75 40
Keratosis Follicularis 57 12 53 25 59 75 29 6 15 73
Darier Disease 57 53 25 59 75 37 13 55 44
Darier's Disease 12 76 53 25
Darier Disease, Acral Hemorrhagic Type 29 6
Darier Disease, Segmental 29 6
Dar 57 75
Dd 57 75
Darier Disease Acral Hemorrhagic Type 75
Darier Disease Segmental 75
Darier White Disease 53
Darier Disease; Dd 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
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-white disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 124200
Disease Ontology 12 DOID:2734
ICD10 33 E50.8
MeSH 44 D007644
NCIt 50 C84665
SNOMED-CT 68 48611009
Orphanet 59 ORPHA218
UMLS via Orphanet 74 C0022595
MESH via Orphanet 45 D007644
ICD10 via Orphanet 34 Q82.8
KEGG 37 H00715
UMLS 73 C0022595

Summaries for Darier-White Disease

OMIM : 57 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 pemphigus and palmoplantar keratosis, 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 Ion channel transport. The drugs Salicylic acid and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and liver, and related phenotypes are palmoplantar keratoderma and pruritus

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.

NIH Rare Diseases : 53 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 : 75 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 : 76 Darier''s disease (DAR), also known as Darier disease, Darier�??White disease,Dyskeratosis follicularis,... more...

Related Diseases for Darier-White Disease

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

(show top 50) (show all 214)
# Related Disease Score Top Affiliating Genes
1 pemphigus 30.5 JUP DSP ATP2C1
2 palmoplantar keratosis 30.0 JUP DSP
3 benign chronic pemphigus 29.5 JUP DSP CDH3 ATP2C2 ATP2C1 ATP2A2
4 keratosis follicularis spinulosa decalvans 12.8
5 keratosis follicularis, dwarfism, and cerebral atrophy 12.7
6 keratosis follicularis spinulosa decalvans, x-linked 12.7
7 keratosis follicularis spinulosa decalvans, autosomal dominant 12.5
8 dentin dysplasia, type i 12.0
9 denys-drash syndrome 12.0
10 dentin dysplasia, type ii 11.9
11 dentin dysplasia 11.7
12 acrokeratosis verruciformis 11.5
13 keratosis pilaris atrophicans 11.4
14 mohr-tranebjaerg syndrome 11.3
15 diastrophic dysplasia 11.3
16 ichthyosis follicularis atrichia photophobia syndrome 11.3
17 dissociative disorder 11.0
18 lepromatous leprosy 10.4
19 keratosis 10.3
20 alopecia 10.3
21 elastoma 10.3
22 malaria 10.3
23 cutaneous fibrous histiocytoma 10.2
24 arteries, anomalies of 10.2
25 coronary artery anomaly 10.2
26 atrophic muscular disease 10.1 ATP2A3 ATP2A2
27 microvascular complications of diabetes 3 10.1
28 microvascular complications of diabetes 4 10.1
29 microvascular complications of diabetes 6 10.1
30 microvascular complications of diabetes 7 10.1
31 epidermolysis bullosa, lethal acantholytic 10.1 JUP DSP
32 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 JUP DSP
33 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 JUP DSP
34 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 JUP DSP
35 palmoplantar keratoderma and woolly hair 10.1 JUP DSP
36 naxos disease 10.1 JUP DSP
37 brody myopathy 10.1 ATP2A3 ATP2A2
38 myocardial infarction 10.1
39 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1
40 arrhythmogenic right ventricular dysplasia, familial, 1 10.1 JUP DSP
41 arrhythmogenic right ventricular dysplasia, familial, 9 10.1 JUP DSP
42 ectodermal dysplasia/skin fragility syndrome 10.1 JUP DSP
43 major affective disorder 1 10.1
44 keratitis, hereditary 10.1
45 pityriasis rubra pilaris 10.1
46 retinitis pigmentosa 10.1
47 leber congenital amaurosis 4 10.1
48 major affective disorder 8 10.1
49 major affective disorder 7 10.1
50 major affective disorder 9 10.1

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



Diseases related to Darier-White Disease

Symptoms & Phenotypes for Darier-White Disease

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Darier-White Disease:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
2 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
3 hypermelanotic macule 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001034
4 plantar pits 59 32 frequent (33%) Frequent (79-30%) HP:0010612
5 abnormality of the hair 59 32 frequent (33%) Frequent (79-30%) HP:0001595
6 anal mucosal leukoplakia 59 32 frequent (33%) Frequent (79-30%) HP:0005212
7 subungual hyperkeratotic fragments 59 32 hallmark (90%) Very frequent (99-80%) HP:0008410
8 acrokeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200016
9 skin vesicle 59 32 occasional (7.5%) Occasional (29-5%) HP:0200037
10 seizures 32 HP:0001250
11 intellectual disability, mild 32 HP:0001256
12 abnormality of the nail 59 Very frequent (99-80%)
13 bipolar affective disorder 32 HP:0007302
14 schizophrenia 32 HP:0100753
15 macule 59 Occasional (29-5%)
16 thickened skin 59 Frequent (79-30%)
17 palmar pits 32 HP:0010610
18 abnormality of skin pigmentation 59 Frequent (79-30%)
19 ridged nail 32 HP:0001807
20 enlargement of parotid gland 32 HP:0011801

UMLS symptoms related to Darier-White Disease:


seizures

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

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.89 ATP2C2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.89 PRODH
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.89 ATP2C2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.89 PRODH
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.89 ATP2C2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.89 ATP2C2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.89 ATP2A2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.89 PRODH
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.89 ATP2A2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.89 PRODH
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.89 ATP2C2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.89 PRODH
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.89 PRODH
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.89 PRODH
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.89 ATP2A2 ATP2C2 PRODH
16 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.55 ATP2A2 ATP2C1 DSP JUP VCL
2 integument MP:0010771 9.43 ATP2A2 ATP2C1 CDH3 DSP JUP PRODH
3 muscle MP:0005369 9.02 ATP2A2 ATP2A3 DSP JUP VCL

Drugs & Therapeutics for Darier-White Disease

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
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3 Dermatologic Agents Phase 4
4 Keratolytic Agents Phase 4
5 Emollients Phase 4
6 Antifungal Agents Phase 4
7 Anti-Infective Agents Phase 4
8
Acetylcholine Approved 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 5284513 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

Genetic Tests for Darier-White Disease

Genetic tests related to Darier-White Disease:

# Genetic test Affiliating Genes
1 Keratosis Follicularis 29 ATP2A2
2 Darier Disease, Segmental 29
3 Darier Disease, Acral Hemorrhagic Type 29

Anatomical Context for Darier-White Disease

MalaCards organs/tissues related to Darier-White Disease:

41
Skin, Tongue, Liver, Heart, Spinal Cord, Prostate, Cervix

Publications for Darier-White Disease

Articles related to Darier-White Disease:

(show top 50) (show all 158)
# Title Authors Year
1
Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family. ( 29951998 )
2018
2
Keratosis follicularis squamosa (Dohi) successfully treated with benzoyl peroxide 2.5% gel. ( 29131375 )
2018
3
A rare presentation of keratosis follicularis spinulosa decalvans in female twins. ( 28928337 )
2017
4
Keratosis Follicularis Spinulosa Decalvans with Associated Mental Retardation: Response to Isotretinoin. ( 28932071 )
2017
5
Rare ocular manifestations in keratosis follicularis (Darier-White disease). ( 28905836 )
2017
6
Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. ( 27663151 )
2016
7
Keratosis follicularis spinulosa decalvans. ( 26765129 )
2016
8
Kaposi-Juliusberg varicelliform eruption in patients suffering from Darier-White Disease: a case report and review of the literature. ( 25502366 )
2016
9
Darier-White disease. ( 28329545 )
2016
10
Darier-White disease treated with fractional CO2 laser in two cases. ( 25847535 )
2015
11
Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases. ( 26622157 )
2015
12
Substance P in keratosis follicularis spinulosa decalvans. ( 27051769 )
2015
13
Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin. ( 26515859 )
2015
14
Twenty-Nail Dystrophy and Darier's (Darier-White) Disease. ( 26861433 )
2015
15
Treatment of segmental keratosis follicularis (darier disease) using ablative fractional laser resurfacing. ( 25775447 )
2015
16
A severe fatal case of Darier-White disease-an extreme phenotype or a new entity? ( 27051677 )
2015
17
Recurrent presumed herpes simplex keratitis and episcleritis in keratosis follicularis (Darier's disease). ( 26184361 )
2015
18
Unilateral and pruritic papules: segmental Darier-White disease. ( 25419760 )
2014
19
Keratosis Follicularis Spinulosa Decalvans Associated wA+th Leukonychia. ( 25781302 )
2014
20
Acitretin-induced acral hemorrhagic lesions in Darier-White disease. ( 25566576 )
2014
21
Two cases of keratosis follicularis squamosa (Dohi) caused by swimsuit friction. ( 23608105 )
2013
22
Darier-white disease. ( 23942447 )
2013
23
Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girls. ( 23960394 )
2013
24
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. ( 22816986 )
2012
25
Keratosis follicularis spinulosa decalvans in a female. ( 21508573 )
2011
26
A case of facial keratosis follicularis squamosa resembling atrophic acne scarring, successfully treated with topical pimecrolimus. ( 21220887 )
2011
27
Dermoscopy of keratosis follicularis squamosa. ( 25386278 )
2011
28
Keratosis follicularis spinulosa decalvans: case report. ( 20944916 )
2010
29
Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. ( 20672378 )
2010
30
Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3-7p12.1. ( 20947307 )
2010
31
Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans. ( 20959277 )
2010
32
Darier-White disease in siblings responding to isotretinoin. ( 23130186 )
2010
33
Widespread keratosis follicularis squamosa. ( 19196310 )
2009
34
In vivo confocal microscopy of the cornea in Darier-White disease. ( 19506208 )
2009
35
Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. ( 18984066 )
2009
36
Keratosis follicularis and dermatomyositis: is there a common pathogenesis? ( 19210696 )
2009
37
Keratosis follicularis spinulosa decalvans in a family. ( 18280351 )
2008
38
Carbon dioxide laser ablation and adjunctive destruction for Darier-White disease (keratosis follicularis). ( 18657162 )
2008
39
Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis. ( 18284270 )
2008
40
Postoperative endophthalmitis in a patient with Darier-White disease. ( 17361258 )
2007
41
Keratosis follicularis (Darier-White disease), with an unusual palmoplantar keratoderma. ( 17511940 )
2007
42
Familial keratosis follicularis spinulosa decalvans associated with woolly hair. ( 17651168 )
2007
43
Successful treatment of keratosis follicularis squamosa with topical tacalcitol. ( 16634918 )
2006
44
A case of Kaposi varicelliform eruption in Darier-White disease. ( 15732432 )
2005
45
Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae. ( 16197427 )
2005
46
A 34-year-old man with Darier-White disease: a case report and review of the literature. ( 16422270 )
2005
47
Darier's (Darier-White) disease/keratosis follicularis. ( 15807723 )
2005
48
Darier's disease (keratosis follicularis): gynaecomastia unique hitherto unreported association. ( 15752316 )
2005
49
Keratosis follicularis of the oral mucosa with oral squamous cell carcinoma. ( 15288843 )
2004
50
Keratosis follicularis squamosa (Dohi) associated with pseudoacanthosis nigricans. ( 15030357 )
2004

Variations for Darier-White Disease

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

75 (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 ATP2A2, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
2 ATP2A2 NM_170665.3(ATP2A2): c.68G> A (p.Gly23Glu) single nucleotide variant Pathogenic rs28929478 GRCh37 Chromosome 12, 110719662: 110719662
3 ATP2A2 NM_170665.3(ATP2A2): c.68G> A (p.Gly23Glu) single nucleotide variant Pathogenic rs28929478 GRCh38 Chromosome 12, 110281857: 110281857
4 ATP2A2 NM_001681.3(ATP2A2): c.322C> T (p.Gln108Ter) single nucleotide variant Pathogenic rs121912731 GRCh37 Chromosome 12, 110729927: 110729927
5 ATP2A2 NM_001681.3(ATP2A2): c.322C> T (p.Gln108Ter) single nucleotide variant Pathogenic rs121912731 GRCh38 Chromosome 12, 110292122: 110292122
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 NG_007097.2: g.65768_65770del deletion Pathogenic GRCh37 Chromosome 12, 110780199: 110780201
14 ATP2A2 NG_007097.2: g.65768_65770del 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.-240G> A single nucleotide variant Likely benign rs577127824 GRCh37 Chromosome 12, 110719355: 110719355
22 ATP2A2 NM_001681.3(ATP2A2): c.-324G> A single nucleotide variant Likely benign rs543056549 GRCh38 Chromosome 12, 110281466: 110281466
23 ATP2A2 NM_001681.3(ATP2A2): c.*764G> A single nucleotide variant Uncertain significance rs533684938 GRCh37 Chromosome 12, 110788874: 110788874
24 ATP2A2 NM_001681.3(ATP2A2): c.*764G> A single nucleotide variant Uncertain significance rs533684938 GRCh38 Chromosome 12, 110351069: 110351069
25 ATP2A2 NM_001681.3(ATP2A2): c.*628A> G single nucleotide variant Uncertain significance rs775478812 GRCh37 Chromosome 12, 110788738: 110788738
26 ATP2A2 NM_001681.3(ATP2A2): c.*628A> G single nucleotide variant Uncertain significance rs775478812 GRCh38 Chromosome 12, 110350933: 110350933
27 ATP2A2 NM_001681.3(ATP2A2): c.*40G> A single nucleotide variant Uncertain significance rs772831610 GRCh37 Chromosome 12, 110788150: 110788150
28 ATP2A2 NM_001681.3(ATP2A2): c.*40G> A single nucleotide variant Uncertain significance rs772831610 GRCh38 Chromosome 12, 110350345: 110350345
29 ATP2A2 NM_001681.3(ATP2A2): c.2860-5_2860-4delGT deletion Likely benign rs372303998 GRCh37 Chromosome 12, 110784001: 110784002
30 ATP2A2 NM_001681.3(ATP2A2): c.2860-5_2860-4delGT deletion Likely benign rs372303998 GRCh38 Chromosome 12, 110346196: 110346197
31 ATP2A2 NM_001681.3(ATP2A2): c.2742-6C> T single nucleotide variant Uncertain significance rs201579013 GRCh37 Chromosome 12, 110783800: 110783800
32 ATP2A2 NM_001681.3(ATP2A2): c.2742-6C> T single nucleotide variant Uncertain significance rs201579013 GRCh38 Chromosome 12, 110345995: 110345995
33 ATP2A2 NM_001681.3(ATP2A2): c.2185G> A (p.Ala729Thr) single nucleotide variant Uncertain significance rs886048953 GRCh37 Chromosome 12, 110780120: 110780120
34 ATP2A2 NM_001681.3(ATP2A2): c.2185G> A (p.Ala729Thr) single nucleotide variant Uncertain significance rs886048953 GRCh38 Chromosome 12, 110342315: 110342315
35 ATP2A2 NM_001681.3(ATP2A2): c.1878C> T (p.Asp626=) single nucleotide variant Uncertain significance rs375770050 GRCh38 Chromosome 12, 110340775: 110340775
36 ATP2A2 NM_001681.3(ATP2A2): c.1878C> T (p.Asp626=) single nucleotide variant Uncertain significance rs375770050 GRCh37 Chromosome 12, 110778580: 110778580
37 ATP2A2 NM_001681.3(ATP2A2): c.1167T> C (p.Tyr389=) single nucleotide variant Benign/Likely benign rs115016152 GRCh38 Chromosome 12, 110332668: 110332668
38 ATP2A2 NM_001681.3(ATP2A2): c.1167T> C (p.Tyr389=) single nucleotide variant Benign/Likely benign rs115016152 GRCh37 Chromosome 12, 110770473: 110770473
39 ATP2A2 NM_001681.3(ATP2A2): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs772617747 GRCh38 Chromosome 12, 110332623: 110332623
40 ATP2A2 NM_001681.3(ATP2A2): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs772617747 GRCh37 Chromosome 12, 110770428: 110770428
41 ATP2A2 NM_001681.3(ATP2A2): c.1096-12C> G single nucleotide variant Likely benign rs138711897 GRCh38 Chromosome 12, 110332585: 110332585
42 ATP2A2 NM_001681.3(ATP2A2): c.1096-12C> G single nucleotide variant Likely benign rs138711897 GRCh37 Chromosome 12, 110770390: 110770390
43 ATP2A2 NM_001681.3(ATP2A2): c.219+15delA deletion Uncertain significance rs886048949 GRCh38 Chromosome 12, 110282810: 110282810
44 ATP2A2 NM_001681.3(ATP2A2): c.219+15delA deletion Uncertain significance rs886048949 GRCh37 Chromosome 12, 110720615: 110720615
45 ATP2A2 NM_001681.3(ATP2A2): c.136+11C> T single nucleotide variant Uncertain significance rs769052817 GRCh38 Chromosome 12, 110282632: 110282632
46 ATP2A2 NM_001681.3(ATP2A2): c.136+11C> T single nucleotide variant Uncertain significance rs769052817 GRCh37 Chromosome 12, 110720437: 110720437
47 ATP2A2 NM_001681.3(ATP2A2): c.-15C> T single nucleotide variant Likely benign rs373966549 GRCh37 Chromosome 12, 110719580: 110719580
48 ATP2A2 NM_001681.3(ATP2A2): c.-15C> T single nucleotide variant Likely benign rs373966549 GRCh38 Chromosome 12, 110281775: 110281775
49 ATP2A2 NM_001681.3(ATP2A2): c.-167C> T single nucleotide variant Uncertain significance rs886048947 GRCh37 Chromosome 12, 110719428: 110719428
50 ATP2A2 NM_001681.3(ATP2A2): c.-167C> T single nucleotide variant Uncertain significance rs886048947 GRCh38 Chromosome 12, 110281623: 110281623

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

Expression for Darier-White Disease

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

Pathways for Darier-White Disease

Pathways related to Darier-White Disease according to KEGG:

37
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020

GO Terms for Darier-White Disease

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 9.52 DSP JUP
2 specific granule lumen GO:0035580 9.51 JUP VCL
3 cell-cell junction GO:0005911 9.5 DSP JUP VCL
4 sarcoplasmic reticulum GO:0016529 9.49 ATP2A2 ATP2A3
5 cytoplasmic side of plasma membrane GO:0009898 9.48 ATP2C2 JUP
6 intercalated disc GO:0014704 9.46 DSP JUP
7 sarcoplasmic reticulum membrane GO:0033017 9.43 ATP2A2 ATP2A3
8 cell-cell adherens junction GO:0005913 9.43 CDH3 JUP VCL
9 catenin complex GO:0016342 9.4 CDH3 JUP
10 desmosome GO:0030057 9.37 DSP JUP
11 platelet dense tubular network membrane GO:0031095 9.16 ATP2A2 ATP2A3
12 zonula adherens GO:0005915 8.96 JUP VCL
13 fascia adherens GO:0005916 8.8 DSP JUP VCL

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.84 ATP2A2 ATP2A3 ATP2C1 ATP2C2
2 cell adhesion GO:0007155 9.83 ATP2A2 CDH3 JUP VCL
3 keratinization GO:0031424 9.69 CDH3 DSP JUP
4 cell-cell adhesion GO:0098609 9.67 CDH3 DSP JUP
5 epidermis development GO:0008544 9.63 ATP2A2 ATP2C1 DSP
6 calcium ion transport GO:0006816 9.62 ATP2A2 ATP2A3 ATP2C1 ATP2C2
7 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.58 ATP2C1 CDH3
8 skin development GO:0043588 9.57 DSP JUP
9 regulation of cardiac conduction GO:1903779 9.56 ATP2A2 ATP2A3
10 calcium ion transmembrane transport GO:0070588 9.56 ATP2A2 ATP2A3 ATP2C1 ATP2C2
11 regulation of heart rate by cardiac conduction GO:0086091 9.55 DSP JUP
12 adherens junction organization GO:0034332 9.54 CDH3 DSP JUP
13 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.48 DSP JUP
14 proton transmembrane transport GO:1902600 9.46 ATP2A2 ATP2A3 ATP2C1 ATP2C2
15 manganese ion transmembrane transport GO:0071421 9.43 ATP2C1 ATP2C2
16 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.4 DSP JUP
17 cellular calcium ion homeostasis GO:0006874 9.26 ATP2A2 ATP2A3 ATP2C1 ATP2C2
18 ATP hydrolysis coupled cation transmembrane transport GO:0099132 8.92 ATP2A2 ATP2A3 ATP2C1 ATP2C2

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

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.58 CDH3 JUP VCL
2 structural molecule activity GO:0005198 9.54 DSP JUP VCL
3 cell adhesion molecule binding GO:0050839 9.43 DSP JUP
4 alpha-catenin binding GO:0045294 9.32 JUP VCL
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.26 DSP JUP
6 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.26 ATP2A2 ATP2A3 ATP2C1 ATP2C2
7 manganese-transporting ATPase activity GO:0015410 9.16 ATP2C1 ATP2C2
8 calcium-transporting ATPase activity GO:0005388 8.92 ATP2A2 ATP2A3 ATP2C1 ATP2C2

Sources for Darier-White Disease

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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