DAR
MCID: DRR014
MIFTS: 59

Darier-White Disease (DAR)

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 43 58 73 39
Keratosis Follicularis 57 12 20 43 58 73 29 6 15 71
Darier Disease 57 20 43 58 73 36 13 54 44
Darier's Disease 12 74 20 43
Dar 57 73
Dd 57 73
Darier Disease, Acral Hemorrhagic Type 6
Darier Disease Acral Hemorrhagic Type 73
Darier Disease, Segmental 6
Darier Disease Segmental 73
Darier White Disease 20
Darier Disease; Dd 57

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
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:

31
darier-white disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:2734
OMIM® 57 124200
KEGG 36 H00715
MeSH 44 D007644
NCIt 50 C84665
SNOMED-CT 67 157017000
ICD10 32 E50.8
MESH via Orphanet 45 D007644
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0022595
Orphanet 58 ORPHA218
UMLS 71 C0022595

Summaries for Darier-White Disease

GARD : 20 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. The wart-like blemishes characteristic of Darier disease usually appear in late childhood to early adulthood. The severity of the disease varies over time; affected people experience flare-ups alternating with periods when they have fewer blemishes. The appearance of the blemishes is influenced by environmental factors. Most people with Darier disease will develop more blemishes during the summertime when they are exposed to heat and humidity. UV light; minor injury or friction, such as rubbing or scratching; and ingestion of certain medications can also cause an increase in blemishes. On occasion, people with Darier disease may have neurological disorders such as mild intellectual disability, epilepsy, and depression. Learning and behavior difficulties have also been reported in people with Darier disease. Researchers do not know if these conditions, which are common in the general population, are associated with the genetic changes that cause Darier disease, or if they are coincidental. Some researchers believe that behavioral problems might be linked to the social stigma experienced by people with numerous skin blemishes. A form of Darier disease known as the linear or segmental form is characterized by blemishes on localized areas of the skin. The blemishes are not as widespread as they are in typical Darier disease. Some people with the linear form of this condition have the nail abnormalities that are seen in people with classic Darier disease, but these abnormalities occur only on one side of the body. This disease summary is from MedlinePlus Genetics, an online health information resource from the National Institutes of Health.

MalaCards based summary : Darier-White Disease, also known as keratosis follicularis, is related to keratosis follicularis spinulosa decalvans and acrokeratosis verruciformis, 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 Salicylic acid and Emollients have been mentioned in the context of this disorder. Affiliated tissues include tongue, skin and bone, and related phenotypes are hypermelanotic macule and pruritus

MedlinePlus Genetics : 43 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.The wart-like blemishes characteristic of Darier disease usually appear in late childhood to early adulthood. The severity of the disease varies over time; affected people experience flare-ups alternating with periods when they have fewer blemishes. The appearance of the blemishes is influenced by environmental factors. Most people with Darier disease will develop more blemishes during the summertime when they are exposed to heat and humidity. UV light; minor injury or friction, such as rubbing or scratching; and ingestion of certain medications can also cause an increase in blemishes.On occasion, people with Darier disease may have neurological disorders such as mild intellectual disability, epilepsy, and depression. Learning and behavior difficulties have also been reported in people with Darier disease. Researchers do not know if these conditions, which are common in the general population, are associated with the genetic changes that cause Darier disease, or if they are coincidental. Some researchers believe that behavioral problems might be linked to the social stigma experienced by people with numerous skin blemishes.A form of Darier disease known as the linear or segmental form is characterized by blemishes on localized areas of the skin. The blemishes are not as widespread as they are in typical Darier disease. Some people with the linear form of this condition have the nail abnormalities that are seen in people with classic Darier disease, but these abnormalities occur only on one side of the body.

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) (Updated 05-Mar-2021)

KEGG : 36 Darier disease is a skin disorder with keratotic papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead) and nail abnormalities. The disease usually starts at puberty and characterized by loss of cell-to-cell adhesion and abnormal keratinization. Darier disease is caused by mutations in ATP2A2, the gene encoding a sarco/endoplasmic reticulum Ca2+-ATPase. Because of some similarities in their etiopathology, Hailey-Hailey disease [DS:H00844] is often discussed together with Darier disease. Both diseases are autosomal dominantly inherited genodermatosis and are caused by abnormal epidermal calcium homeostasis.

UniProtKB/Swiss-Prot : 73 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 : 74 Darier's disease (DAR) is an autosomal dominant disorder discovered by French dermatologist... 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 513)
# Related Disease Score Top Affiliating Genes
1 keratosis follicularis spinulosa decalvans 32.9 SAT1 MBTPS2
2 acrokeratosis verruciformis 32.1 ATP2A3 ATP2A2
3 grover's disease 30.3 VCL JUP DSP
4 keratosis 30.2 SAT1 MBTPS2 IVL DSP DSG4 ATP2A2
5 pemphigus erythematosus 30.0 DSP DSG3
6 palmoplantar keratosis 29.9 JUP DSP DSC3 DSC2
7 bullous pemphigoid 29.7 IVL DSP DSG3
8 impetigo 29.1 DSG4 DSG3 DSC3 DSC1
9 pemphigus vulgaris, familial 29.1 JUP IVL DSP DSG4 DSG3 DSC3
10 skin disease 28.7 IVL DSP DSG4 DSG3 DSC3 DSC1
11 pemphigus 28.6 JUP DSP DSG4 DSG3 DSC3 DSC2
12 familial woolly hair syndrome 28.5 JUP DSP DSG4 DSG3 DSC3 DSC2
13 benign chronic pemphigus 27.9 JUP IVL DSP DSG4 DSG3 DSC3
14 keratosis follicularis spinulosa decalvans, x-linked 11.9
15 keratosis follicularis, dwarfism, and cerebral atrophy 11.7
16 keratosis follicularis spinulosa decalvans, autosomal dominant 11.7
17 keratosis pilaris atrophicans 11.4
18 ichthyosis follicularis atrichia photophobia syndrome 11.1
19 malaria 10.5
20 elastoma 10.4
21 corneal dystrophy 10.4
22 erythrokeratoderma ''en cocardes'' 10.3
23 syphilis 10.3
24 atrophic muscular disease 10.3 ATP2A3 ATP2A2
25 folliculitis 10.3
26 hypotrichosis 10.3
27 epidermolysis bullosa, lethal acantholytic 10.3 JUP DSP
28 arrhythmogenic right ventricular dysplasia, familial, 1 10.3 DSP DSC2
29 pustulosis of palm and sole 10.3
30 psoriasis 10.3
31 diffuse palmoplantar keratoderma 10.3 JUP DSP
32 mycobacterium tuberculosis 1 10.2
33 pulmonary tuberculosis 10.2
34 arrhythmogenic right ventricular dysplasia, familial, 3 10.2 DSP DSC2
35 familial isolated arrhythmogenic right ventricular dysplasia 10.2 DSP DSC2
36 human immunodeficiency virus type 1 10.2
37 immune deficiency disease 10.2
38 diarrhea 10.2
39 hepatitis b 10.2
40 major affective disorder 1 10.1
41 keratitis, hereditary 10.1
42 ichthyosis 10.1
43 skin atrophy 10.1
44 cutaneous fibrous histiocytoma 10.1
45 tetanus 10.1
46 candidiasis 10.1
47 human immunodeficiency virus infectious disease 10.1
48 pseudomembranous conjunctivitis 10.1 DSP DSG3
49 urinary tract infection 10.1
50 dental caries 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

Human phenotypes related to Darier-White Disease:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypermelanotic macule 58 31 occasional (7.5%) Very frequent (99-80%) HP:0001034
2 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
3 subungual hyperkeratotic fragments 58 31 hallmark (90%) Very frequent (99-80%) HP:0008410
4 acrokeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200016
5 palmoplantar keratoderma 58 31 frequent (33%) Frequent (79-30%) HP:0000982
6 plantar pits 58 31 frequent (33%) Frequent (79-30%) HP:0010612
7 anal mucosal leukoplakia 58 31 frequent (33%) Frequent (79-30%) HP:0005212
8 abnormal hair morphology 31 frequent (33%) HP:0001595
9 skin vesicle 58 31 occasional (7.5%) Occasional (29-5%) HP:0200037
10 intellectual disability, mild 31 HP:0001256
11 abnormality of the nail 58 Very frequent (99-80%)
12 bipolar affective disorder 31 HP:0007302
13 schizophrenia 31 HP:0100753
14 macule 58 Occasional (29-5%)
15 palmar pits 31 HP:0010610
16 abnormality of the hair 58 Frequent (79-30%)
17 abnormality of skin pigmentation 58 Frequent (79-30%)
18 thickened skin 58 Frequent (79-30%)
19 ridged nail 31 HP:0001807
20 acantholysis 31 HP:0100792
21 enlargement of parotid gland 31 HP:0011801
22 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Darier-White Disease:


seizures

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 ATP2A2 ATP2C1 CDH3 DSG3 JUP TRPC4

MGI Mouse Phenotypes related to Darier-White Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.28 ATP2A2 ATP2C1 CDH3 DSC1 DSC3 DSG3

Drugs & Therapeutics for Darier-White Disease

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
2 Emollients Phase 4
3 Dermatologic Agents Phase 4
4
Acetylcholine Approved, Investigational Phase 1 51-84-3 187
5 Neurotransmitter Agents Phase 1
6 Botulinum Toxins Phase 1
7 Cholinergic Agents Phase 1

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. Toxin Hailey Darier Completed NCT02782702 Phase 1 Botulism Toxin Treatment
3 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685
4 Treatment of Keratosis Pilaris With 810 nm Diode Laser Completed NCT01281644
5 Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses Completed NCT00001292
6 A Placebo-Controlled, Double-Blind, Bi-Lateral Study to Evaluate the Performance and Tolerability of a Cosmetic Product Designed to Improve the Appearance of Skin Afflicted With Keratosis Pilaris Completed NCT03243617

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

Anatomical Context for Darier-White Disease

MalaCards organs/tissues related to Darier-White Disease:

40
Tongue, Skin, Bone, Heart, Liver, Cervix

Publications for Darier-White Disease

Articles related to Darier-White Disease:

(show top 50) (show all 380)
# Title Authors PMID Year
1
Mosaicism for ATP2A2 mutations causes segmental Darier's disease. 57 6 54
11121153 2000
2
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. 57 6 54
10441324 1999
3
Spectrum of novel ATP2A2 mutations in patients with Darier's disease. 54 6 57
10441323 1999
4
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. 54 57 6
10080178 1999
5
Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6. 57 54
19610080 2009
6
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation. 6 54
11168576 2001
7
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. 6 54
10441325 1999
8
Genetic linkage for Darier disease (keratosis follicularis). 57 61
7537018 1995
9
Darier-White disease: a review of the clinical features in 163 patients. 57 61
1619075 1992
10
Darier's disease: a kindred with a large number of cases. 57 61
921905 1977
11
Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease. 6
12072062 2002
12
Bumps and pumps, SERCA 1999. 57
10080170 1999
13
Narrowing of the Darier disease gene interval on chromosome 12q. 57
9579560 1998
14
Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region. 57
9529352 1998
15
Localization of the Darier disease gene to a 2-cM portion of 12q23-24.1. 57
8601743 1996
16
Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129. 57
7698764 1994
17
Localization of the gene for Darier disease to a 5-cM interval on chromosome 12q. 57
7930670 1994
18
The gene for Darier's disease maps between D12S78 and D12S79. 57
7512859 1994
19
Yet another skin defect, Darier's disease, maps to chromosome 12q. 57
8281134 1993
20
Localisation of a gene for Darier's disease. 57
7506604 1993
21
The gene for Darier's disease maps to chromosome 12q23-q24.1. 57
8129825 1993
22
Mapping of the Darier's disease gene by serogenetic markers: results in two large British kindreds. 57
1466564 1992
23
Renal and testicular agenesis in a patient with Darier's disease. 57
3993667 1985
24
Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. 57
14007732 1961
25
Darier's disease following radiotherapy for carcinoma of cervix. 54 61
17642644 2004
26
Keratosis follicularis of the oral mucosa with oral squamous cell carcinoma. 61 54
15288843 2004
27
Darier's disease associated with bipolar affective disorder: a case report. 54 61
12670038 2002
28
Genetic basis of Darier-White disease: bad pumps cause bumps. 61 54
11179934 2000
29
Successful Treatment of Keratosis Follicularis Spinulosa Decalvans With an 800-nm Diode Laser. 61
30893172 2020
30
Reflectance confocal microscopy in keratosis follicularis squamosa. 61
31544989 2020
31
Coexistence of Anogenital Psoriasis and Genital Warts - Is There an Optimal Treatment? 61
31969241 2019
32
A toddler case of keratosis follicularis squamosa (Dohi) successfully treated with salicylic acid ointment. 61
31556876 2019
33
[Detection and analysis of an ATP2A2 mutation in a family with Darier-White disease]. 61
31400130 2019
34
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 61
31090139 2019
35
Darier disease with disseminated herpes simplex virus type 2 infection. 61
31046908 2019
36
Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family. 61
29951998 2019
37
A rare presentation of keratosis follicularis spinulosa decalvans in female twins. 61
28928337 2018
38
Keratosis follicularis squamosa (Dohi) successfully treated with benzoyl peroxide 2.5% gel. 61
29131375 2018
39
Rare ocular manifestations in keratosis follicularis (Darier-White disease). 61
28905836 2017
40
Lichenoid folliculitis: A unifying concept. 61
28345255 2017
41
Keratosis Follicularis Spinulosa Decalvans with Associated Mental Retardation: Response to Isotretinoin. 61
28932071 2017
42
Darier disease: A rare genodermatosis. 61
28932054 2017
43
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. 61
28061825 2017
44
Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease. 61
28008204 2016
45
Primary cicatricial alopecia: Other lymphocytic primary cicatricial alopecias and neutrophilic and mixed primary cicatricial alopecias. 61
27846945 2016
46
Darier-White disease. 61
28329545 2016
47
Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. 61
27663151 2016
48
Kaposi-Juliusberg varicelliform eruption in patients suffering from Darier-White Disease: a case report and review of the literature. 61
25502366 2016
49
Darier's disease--oral, general and histopathological features in a 7 year old child. 61
27080970 2016
50
Keratosis follicularis spinulosa decalvans. 61
26765129 2016

Variations for Darier-White Disease

ClinVar genetic disease variations for Darier-White Disease:

6 (show top 50) (show all 100)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP2A2 NM_170665.4(ATP2A2):c.2300A>G (p.Asn767Ser) SNV Pathogenic 17792 rs121912732 12:110780235-110780235 12:110342430-110342430
2 ATP2A2 NM_170665.4(ATP2A2):c.803G>T (p.Cys268Phe) SNV Pathogenic 17793 rs121912733 12:110765530-110765530 12:110327725-110327725
3 ATP2A2 NM_170665.4(ATP2A2):c.2682C>A (p.Tyr894Ter) SNV Pathogenic 17797 rs121912735 12:110783128-110783128 12:110345323-110345323
4 ATP2A2 NM_170665.4(ATP2A2):c.2305G>A (p.Gly769Arg) SNV Pathogenic 17798 rs121912736 12:110780240-110780240 12:110342435-110342435
5 ATP2A2 NM_170665.4(ATP2A2):c.68G>A (p.Gly23Glu) SNV Pathogenic 17789 rs28929478 12:110719662-110719662 12:110281857-110281857
6 ATP2A2 NM_170665.4(ATP2A2):c.322C>T (p.Gln108Ter) SNV Pathogenic 17790 rs121912731 12:110729927-110729927 12:110292122-110292122
7 ATP2A2 NM_170665.4(ATP2A2):c.1678T>C (p.Cys560Arg) SNV Pathogenic 17794 rs121912734 12:110777443-110777443 12:110339638-110339638
8 ATP2A2 ATP2A2, 18-BP INS, IVS2, -12 Insertion Pathogenic 17795
9 ATP2A2 NM_170665.4(ATP2A2):c.2258_2260ACA[2] (p.Asn755del) Microsatellite Pathogenic 17796 rs1566240208 12:110780193-110780195 12:110342388-110342390
10 ATP2A2 NM_170665.4(ATP2A2):c.392G>A (p.Arg131Gln) SNV Pathogenic 17800 rs121912738 12:110734471-110734471 12:110296666-110296666
11 ATP2A2 NM_170665.4(ATP2A2):c.544+1G>A SNV Pathogenic 17791 rs1592839705 12:110760878-110760878 12:110323073-110323073
12 ATP2A2 NM_170665.4(ATP2A2):c.2381T>A (p.Val794Asp) SNV Likely pathogenic 807380 rs1592864859 12:110781099-110781099 12:110343294-110343294
13 ATP2A2 NM_170665.4(ATP2A2):c.*4572A>G SNV Uncertain significance 883190 12:110788847-110788847 12:110351042-110351042
14 ATP2A2 NM_170665.4(ATP2A2):c.506A>G (p.Lys169Arg) SNV Uncertain significance 883834 12:110760839-110760839 12:110323034-110323034
15 ATP2A2 NM_170665.4(ATP2A2):c.-206C>T SNV Uncertain significance 883057 12:110719389-110719389 12:110281584-110281584
16 ATP2A2 NM_170665.4(ATP2A2):c.-165C>G SNV Uncertain significance 883058 12:110719430-110719430 12:110281625-110281625
17 ATP2A2 NM_170665.4(ATP2A2):c.-37G>C SNV Uncertain significance 883059 12:110719558-110719558 12:110281753-110281753
18 ATP2A2 NM_170665.4(ATP2A2):c.-34G>A SNV Uncertain significance 883060 12:110719561-110719561 12:110281756-110281756
19 ATP2A2 NM_170665.4(ATP2A2):c.2824C>T (p.Leu942Phe) SNV Uncertain significance 883907 12:110783888-110783888 12:110346083-110346083
20 ATP2A2 NM_170665.4(ATP2A2):c.*4495_*4496del Deletion Uncertain significance 307195 rs56170666 12:110788770-110788771 12:110350965-110350966
21 ATP2A2 NM_170665.4(ATP2A2):c.555C>G (p.Val185=) SNV Uncertain significance 307167 rs886048952 12:110764205-110764205 12:110326400-110326400
22 ATP2A2 NM_170665.4(ATP2A2):c.*4608_*4612TCTAT[1] Microsatellite Uncertain significance 307199 rs543602946 12:110788883-110788887 12:110351078-110351082
23 ATP2A2 NM_170665.4(ATP2A2):c.219+15del Deletion Uncertain significance 307163 rs750221249 12:110720609-110720609 12:110282804-110282804
24 ATP2A2 NM_170665.4(ATP2A2):c.*3983A>C SNV Uncertain significance 307192 rs749127178 12:110788258-110788258 12:110350453-110350453
25 ATP2A2 NM_170665.4(ATP2A2):c.-311G>T SNV Uncertain significance 307152 rs886048946 12:110719284-110719284 12:110281479-110281479
26 ATP2A2 NM_170665.4(ATP2A2):c.-167C>T SNV Uncertain significance 307155 rs886048947 12:110719428-110719428 12:110281623-110281623
27 ATP2A2 NM_170665.4(ATP2A2):c.*4599G>A SNV Uncertain significance 307198 rs533684938 12:110788874-110788874 12:110351069-110351069
28 ATP2A2 NM_170665.4(ATP2A2):c.2521+4A>C SNV Uncertain significance 307181 rs191745868 12:110781243-110781243 12:110343438-110343438
29 ATP2A2 NM_170665.4(ATP2A2):c.*3880C>T SNV Uncertain significance 307190 rs777680341 12:110788155-110788155 12:110350350-110350350
30 ATP2A2 NM_170665.4(ATP2A2):c.-482C>T SNV Uncertain significance 307147 rs886048943 12:110719113-110719113 12:110281308-110281308
31 ATP2A2 NM_170665.4(ATP2A2):c.303T>C (p.Asn101=) SNV Uncertain significance 307164 rs886048950 12:110729908-110729908 12:110292103-110292103
32 ATP2A2 NM_170665.4(ATP2A2):c.-75C>T SNV Uncertain significance 307156 rs886048948 12:110719520-110719520 12:110281715-110281715
33 ATP2A2 NM_170665.4(ATP2A2):c.-335C>A SNV Uncertain significance 307150 rs886048945 12:110719260-110719260 12:110281455-110281455
34 ATP2A2 NM_170665.4(ATP2A2):c.2185G>A (p.Ala729Thr) SNV Uncertain significance 307179 rs886048953 12:110780120-110780120 12:110342315-110342315
35 ATP2A2 NM_170665.4(ATP2A2):c.*3918G>T SNV Uncertain significance 307191 rs886048954 12:110788193-110788193 12:110350388-110350388
36 ATP2A2 NM_170665.4(ATP2A2):c.-324G>A SNV Uncertain significance 307151 rs543056549 12:110719271-110719271 12:110281466-110281466
37 ATP2A2 NM_170665.4(ATP2A2):c.-476C>T SNV Uncertain significance 307148 rs886048944 12:110719119-110719119 12:110281314-110281314
38 ATP2A2 NM_170665.4(ATP2A2):c.1878C>T (p.Asp626=) SNV Uncertain significance 307174 rs375770050 12:110778580-110778580 12:110340775-110340775
39 ATP2A2 NM_170665.4(ATP2A2):c.*4463A>G SNV Uncertain significance 307194 rs775478812 12:110788738-110788738 12:110350933-110350933
40 ATP2A2 NM_170665.4(ATP2A2):c.2797G>A (p.Val933Met) SNV Uncertain significance 424111 rs372102705 12:110783861-110783861 12:110346056-110346056
41 ATP2A2 NM_170665.4(ATP2A2):c.545-14C>T SNV Uncertain significance 880538 12:110764181-110764181 12:110326376-110326376
42 ATP2A2 NM_170665.4(ATP2A2):c.583C>G (p.Pro195Ala) SNV Uncertain significance 880539 12:110764233-110764233 12:110326428-110326428
43 ATP2A2 NM_170665.4(ATP2A2):c.1185-9T>C SNV Uncertain significance 880540 12:110770977-110770977 12:110333172-110333172
44 ATP2A2 NM_170665.4(ATP2A2):c.2859+11G>A SNV Uncertain significance 880621 12:110783934-110783934 12:110346129-110346129
45 ATP2A2 NM_170665.4(ATP2A2):c.*3881G>A SNV Uncertain significance 880622 12:110788156-110788156 12:110350351-110350351
46 ATP2A2 NM_170665.4(ATP2A2):c.*3891G>A SNV Uncertain significance 880623 12:110788166-110788166 12:110350361-110350361
47 ATP2A2 NM_170665.4(ATP2A2):c.-543A>G SNV Uncertain significance 881448 12:110719052-110719052 12:110281247-110281247
48 ATP2A2 NM_170665.4(ATP2A2):c.-512C>G SNV Uncertain significance 881449 12:110719083-110719083 12:110281278-110281278
49 ATP2A2 NM_170665.4(ATP2A2):c.-469G>C SNV Uncertain significance 881878 12:110719126-110719126 12:110281321-110281321
50 ATP2A2 NM_170665.4(ATP2A2):c.-458G>A SNV Uncertain significance 881879 12:110719137-110719137 12:110281332-110281332

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

73 (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

Copy number variations for Darier-White Disease from CNVD:

7
# CNVD ID Chromosome 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:

36
# 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 membrane GO:0016020 10.37 VCL TRPC4 TRPC1 MBTPS2 JUP DSP
2 integral component of membrane GO:0016021 10.3 TRPC4 TRPC1 MBTPS2 DSG4 DSG3 DSC3
3 plasma membrane GO:0005886 10.29 VCL TRPC4 TRPC1 JUP DSP DSG4
4 cell junction GO:0030054 9.91 VCL JUP DSP DSG4 DSG3 DSC3
5 cell-cell junction GO:0005911 9.81 VCL TRPC4 JUP DSP DSG4 DSG3
6 adherens junction GO:0005912 9.71 VCL JUP DSC2 CDH3
7 intercalated disc GO:0014704 9.54 JUP DSP DSC2
8 fascia adherens GO:0005916 9.5 VCL JUP DSP
9 desmosome GO:0030057 9.5 JUP DSP DSG4 DSG3 DSC3 DSC2
10 cation channel complex GO:0034703 9.48 TRPC4 TRPC1
11 platelet dense tubular network membrane GO:0031095 9.46 ATP2A3 ATP2A2
12 zonula adherens GO:0005915 9.43 VCL JUP
13 cornified envelope GO:0001533 9.23 JUP IVL DSP DSG4 DSG3 DSC3

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10 TRPC4 TRPC1 ATP2C1 ATP2A3 ATP2A2
2 cell adhesion GO:0007155 9.91 VCL JUP DSG4 DSG3 DSC3 DSC2
3 calcium ion transport GO:0006816 9.83 TRPC4 TRPC1 ATP2C1 ATP2A3 ATP2A2
4 calcium ion transmembrane transport GO:0070588 9.8 TRPC4 TRPC1 ATP2C1 ATP2A3 ATP2A2
5 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.8 DSG4 DSG3 DSC3 DSC2 DSC1 CDH3
6 proton transmembrane transport GO:1902600 9.77 ATP2C1 ATP2A3 ATP2A2
7 cellular calcium ion homeostasis GO:0006874 9.76 ATP2C1 ATP2A3 ATP2A2
8 cell-cell adhesion GO:0098609 9.76 JUP DSP DSG4 DSG3 DSC3 DSC2
9 epidermis development GO:0008544 9.75 DSP ATP2C1 ATP2A2
10 keratinocyte differentiation GO:0030216 9.72 IVL DSP DSG4
11 regulation of cardiac conduction GO:1903779 9.71 TRPC1 ATP2A3 ATP2A2
12 adherens junction organization GO:0034332 9.7 JUP DSP CDH3
13 regulation of heart rate by cardiac conduction GO:0086091 9.69 JUP DSP DSC2
14 manganese ion transport GO:0006828 9.65 TRPC4 TRPC1 ATP2C1
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.63 JUP DSP DSC2
16 epithelial cell-cell adhesion GO:0090136 9.57 VCL DSP
17 negative regulation of receptor binding GO:1900121 9.56 ATP2A3 ATP2A2
18 cornification GO:0070268 9.56 JUP IVL DSP DSG4 DSG3 DSC3
19 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.54 JUP DSP DSC2
20 calcium ion transport from cytosol to endoplasmic reticulum GO:1903515 9.49 ATP2A3 ATP2A2
21 keratinization GO:0031424 9.28 JUP IVL DSP DSG4 DSG3 DSC3

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 10.06 ZNF23 MBTPS2 DSG4 DSG3 DSC3 DSC2
2 cadherin binding GO:0045296 9.76 VCL TRPC4 JUP CDH3
3 calcium ion binding GO:0005509 9.76 DSG4 DSG3 DSC3 DSC2 DSC1 CDH3
4 ion channel binding GO:0044325 9.65 TRPC1 ATP2A3 ATP2A2
5 inositol 1,4,5 trisphosphate binding GO:0070679 9.43 TRPC4 TRPC1
6 calcium-transporting ATPase activity GO:0005388 9.43 ATP2C1 ATP2A3 ATP2A2
7 alpha-catenin binding GO:0045294 9.4 VCL JUP
8 store-operated calcium channel activity GO:0015279 9.37 TRPC4 TRPC1
9 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.13 ATP2C1 ATP2A3 ATP2A2
10 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 JUP DSP DSC2

Sources for Darier-White Disease

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