MCID: ACR075
MIFTS: 10

Acral Dystrophic Epidermolysis Bullosa

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Acral Dystrophic Epidermolysis Bullosa

MalaCards integrated aliases for Acral Dystrophic Epidermolysis Bullosa:

Name: Acral Dystrophic Epidermolysis Bullosa 59

Characteristics:

Orphanet epidemiological data:

59
acral dystrophic epidermolysis bullosa
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA158673
ICD10 via Orphanet 34 Q81.2

Summaries for Acral Dystrophic Epidermolysis Bullosa

MalaCards based summary : Acral Dystrophic Epidermolysis Bullosa An important gene associated with Acral Dystrophic Epidermolysis Bullosa is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, and related phenotypes are milia and atrophic scars

Related Diseases for Acral Dystrophic Epidermolysis Bullosa

Symptoms & Phenotypes for Acral Dystrophic Epidermolysis Bullosa

Human phenotypes related to Acral Dystrophic Epidermolysis Bullosa:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 milia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001056
2 atrophic scars 59 32 hallmark (90%) Very frequent (99-80%) HP:0001075
3 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008404

Drugs & Therapeutics for Acral Dystrophic Epidermolysis Bullosa

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

Genetic Tests for Acral Dystrophic Epidermolysis Bullosa

Anatomical Context for Acral Dystrophic Epidermolysis Bullosa

MalaCards organs/tissues related to Acral Dystrophic Epidermolysis Bullosa:

41
Skin

Publications for Acral Dystrophic Epidermolysis Bullosa

Variations for Acral Dystrophic Epidermolysis Bullosa

Expression for Acral Dystrophic Epidermolysis Bullosa

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

Pathways for Acral Dystrophic Epidermolysis Bullosa

GO Terms for Acral Dystrophic Epidermolysis Bullosa

Sources for Acral Dystrophic Epidermolysis Bullosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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