"Darier Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.
| Descriptor ID |
D007644
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| MeSH Number(s) |
C16.320.850.190 C17.800.428.275 C17.800.827.190
|
| Concept/Terms |
Darier Disease- Darier Disease
- Disease, Darier
- Darier's Disease
- Dariers Disease
- Disease, Darier's
- Keratosis Follicularis
- Darier-White Disease
- Darier White Disease
- Darier-White Diseases
- Disease, Darier-White
- Diseases, Darier-White
Acrokeratosis Verruciformis of Hopf- Acrokeratosis Verruciformis of Hopf
- Hopf Acrokeratosis Verruciformis
- Hopf Disease
- Disease, Hopf
- Diseases, Hopf
- Hopf Diseases
- Acrokeratosis Verruciformis
- Verruciformis, Acrokeratosis
|
Below are MeSH descriptors whose meaning is more general than "Darier Disease".
Below are MeSH descriptors whose meaning is more specific than "Darier Disease".
This graph shows the total number of publications written about "Darier Disease" by people in this website by year, and whether "Darier Disease" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 0 | 3 | 3 |
| 2007 | 1 | 0 | 1 |
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Below are the most recent publications written about "Darier Disease" by people in Profiles.
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Hamada T, Yasumoto S, Karashima T, Ishii N, Shimada H, Kawano Y, Imayama S, McGrath JA, Hashimoto T. Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol. 2007 Sep; 157(3):605-8.
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McLean WH, Smith FJ, Cassidy AJ. Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database. J Investig Dermatol Symp Proc. 2005 Oct; 10(1):31-6.
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Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, Joval I, van Steensel MA, Bj?rck E, Callif-Daley F, Pals G, Collins P, Leachman SA, Munro CS, McLean WH. The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct; 10(1):21-30.
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Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct; 10(1):3-17.
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Parfitt E, Burge S, Craddock N, Roberts E, McLean WH, Weissenbach J, McGuffin P, Owen M. The gene for Darier's disease maps between D12S78 and D12S79. Hum Mol Genet. 1994 Jan; 3(1):35-8.