MCID: LCL025
MIFTS: 14

Localized Dystrophic Epidermolysis Bullosa, Acral Form

Categories: Fetal diseases, Rare diseases, Skin diseases
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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:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Localized Dystrophic Epidermolysis Bullosa, Acral Form

Orphanet: 58 A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement.

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). Affiliated tissues include skin, and related phenotypes are erythema and cutaneous photosensitivity

Related Diseases for Localized Dystrophic Epidermolysis Bullosa, Acral Form

Symptoms & Phenotypes for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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

58 30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythema 58 30 Frequent (33%) Frequent (79-30%)
HP:0010783
2 cutaneous photosensitivity 58 30 Frequent (33%) Frequent (79-30%)
HP:0000992
3 dystrophic toenail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001810
4 dystrophic fingernails 58 30 Frequent (33%) Frequent (79-30%)
HP:0008391
5 milia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001056
6 thin skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000963
7 poikiloderma 58 30 Frequent (33%) Frequent (79-30%)
HP:0001029
8 telangiectasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001009
9 crusting erythematous dermatitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0007473
10 dermal atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0004334
11 fragile skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0001030
12 esophageal stricture 58 30 Frequent (33%) Frequent (79-30%)
HP:0002043
13 acral blistering 58 30 Frequent (33%) Frequent (79-30%)
HP:0031045
14 erythematous plaque 58 30 Frequent (33%) Frequent (79-30%)
HP:0025474
15 palmoplantar hyperkeratosis 30 Frequent (33%) HP:0000972
16 abnormality of the elbow 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009811
17 abnormality of the knee 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002815
18 recurrent loss of toenails and fingernails 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008390
19 abnormality of the lower limb 58 Frequent (79-30%)
20 abnormal blistering of the skin 58 Frequent (79-30%)
21 palmoplantar keratosis with erythema and scale 58 Frequent (79-30%)

Drugs & Therapeutics for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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

Genetic Tests for Localized Dystrophic Epidermolysis Bullosa, Acral Form

Anatomical Context for Localized Dystrophic Epidermolysis Bullosa, Acral Form

Organs/tissues related to Localized Dystrophic Epidermolysis Bullosa, Acral Form:

MalaCards : Skin

Publications for Localized Dystrophic Epidermolysis Bullosa, Acral Form

Variations for Localized Dystrophic Epidermolysis Bullosa, Acral Form

Expression for Localized Dystrophic Epidermolysis Bullosa, Acral Form

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

Pathways for Localized Dystrophic Epidermolysis Bullosa, Acral Form

GO Terms for Localized Dystrophic Epidermolysis Bullosa, Acral Form

Sources for Localized Dystrophic Epidermolysis Bullosa, Acral Form

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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