MCID: ACR075
MIFTS: 10

Acral Dystrophic Epidermolysis Bullosa

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Acral Dystrophic Epidermolysis Bullosa

MalaCards integrated aliases for Acral Dystrophic Epidermolysis Bullosa:

Name: Acral Dystrophic Epidermolysis Bullosa 60

Characteristics:

Orphanet epidemiological data:

60
acral dystrophic epidermolysis bullosa
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

ICD10 via Orphanet 35 Q81.2
Orphanet 60 ORPHA158673

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 nail dystrophy and milia

Related Diseases for Acral Dystrophic Epidermolysis Bullosa

Symptoms & Phenotypes for Acral Dystrophic Epidermolysis Bullosa

Human phenotypes related to Acral Dystrophic Epidermolysis Bullosa:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008404
2 milia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001056
3 atrophic scars 60 33 hallmark (90%) Very frequent (99-80%) HP:0001075

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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