Localized Dystrophic Epidermolysis Bullosa, Acral Form disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Localized Dystrophic Epidermolysis Bullosa, Acral Form

MalaCards integrated aliases for Localized Dystrophic Epidermolysis Bullosa, Acral Form:

Name: Localized Dystrophic Epidermolysis Bullosa, Acral Form ⁵⁸

Localized Deb, Acral Form ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

localized dystrophic epidermolysis bullosa, acral form
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Epidermolysis bullosa

Epidermolysis bullosa dystrophica

Orphanet: ⁵⁸

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³³ Q81.2

Orphanet ⁵⁸ ORPHA158673

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Summaries for Localized Dystrophic Epidermolysis Bullosa, Acral Form

MalaCards based summary : Localized Dystrophic Epidermolysis Bullosa, Acral Form, is also known as localized deb, acral form. An important gene associated with Localized Dystrophic Epidermolysis Bullosa, Acral Form is COL7A1 (Collagen Type VII Alpha 1 Chain). Related phenotypes are erythema and abnormality of the elbow

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Related Diseases for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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Symptoms & Phenotypes for Localized Dystrophic Epidermolysis Bullosa, Acral Form

Human phenotypes related to Localized Dystrophic Epidermolysis Bullosa, Acral Form:

⁵⁸ (show all 20)

#	Description	Orphanet Frequency
1	erythema ⁵⁸	Frequent (79-30%)
2	abnormality of the elbow ⁵⁸	Occasional (29-5%)
3	cutaneous photosensitivity ⁵⁸	Frequent (79-30%)
4	abnormality of the lower limb ⁵⁸	Frequent (79-30%)
5	dystrophic toenail ⁵⁸	Frequent (79-30%)
6	abnormal blistering of the skin ⁵⁸	Frequent (79-30%)
7	dystrophic fingernails ⁵⁸	Frequent (79-30%)
8	milia ⁵⁸	Frequent (79-30%)
9	thin skin ⁵⁸	Frequent (79-30%)
10	abnormality of the knee ⁵⁸	Occasional (29-5%)
11	poikiloderma ⁵⁸	Frequent (79-30%)
12	telangiectasia ⁵⁸	Frequent (79-30%)
13	crusting erythematous dermatitis ⁵⁸	Frequent (79-30%)
14	dermal atrophy ⁵⁸	Frequent (79-30%)
15	fragile skin ⁵⁸	Frequent (79-30%)
16	esophageal stricture ⁵⁸	Frequent (79-30%)
17	acral blistering ⁵⁸	Frequent (79-30%)
18	erythematous plaque ⁵⁸	Frequent (79-30%)
19	palmoplantar keratosis with erythema and scale ⁵⁸	Frequent (79-30%)
20	recurrent loss of toenails and fingernails ⁵⁸	Occasional (29-5%)

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Drugs & Therapeutics for Localized Dystrophic Epidermolysis Bullosa, Acral Form

Search Clinical Trials , NIH Clinical Center for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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Genetic Tests for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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Anatomical Context for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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Publications for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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Genes for Localized Dystrophic Epidermolysis Bullosa, Acral Form

Genes related to Localized Dystrophic Epidermolysis Bullosa, Acral Form (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	COL7A1	Collagen Type VII Alpha 1 Chain	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸

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Variations for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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Expression for Localized Dystrophic Epidermolysis Bullosa, Acral Form

Search GEO for disease gene expression data for Localized Dystrophic Epidermolysis Bullosa, Acral Form.

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Pathways for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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GO Terms for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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Sources for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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