MCID: LCL025
MIFTS: 9

Localized Dystrophic Epidermolysis Bullosa, Acral Form

Categories: Fetal diseases, Rare diseases, Skin diseases

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:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q81.2
Orphanet 58 ORPHA158673

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

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 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
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%)

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

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

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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