MCID: LCL024
MIFTS: 9

Localized Dystrophic Epidermolysis Bullosa, Nails Only

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Localized Dystrophic Epidermolysis Bullosa, Nails Only

MalaCards integrated aliases for Localized Dystrophic Epidermolysis Bullosa, Nails Only:

Name: Localized Dystrophic Epidermolysis Bullosa, Nails Only 58
Localized Deb, Nails Only 58

Characteristics:

Orphanet epidemiological data:

58
localized dystrophic epidermolysis bullosa, nails only
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 ORPHA158676

Summaries for Localized Dystrophic Epidermolysis Bullosa, Nails Only

MalaCards based summary : Localized Dystrophic Epidermolysis Bullosa, Nails Only, is also known as localized deb, nails only. An important gene associated with Localized Dystrophic Epidermolysis Bullosa, Nails Only is COL7A1 (Collagen Type VII Alpha 1 Chain). Related phenotypes are dystrophic toenail and abnormal blistering of the skin

Related Diseases for Localized Dystrophic Epidermolysis Bullosa, Nails Only

Symptoms & Phenotypes for Localized Dystrophic Epidermolysis Bullosa, Nails Only

Human phenotypes related to Localized Dystrophic Epidermolysis Bullosa, Nails Only:

58 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dystrophic toenail 58 Frequent (79-30%)
2 abnormal blistering of the skin 58 Excluded (0%)
3 dystrophic fingernails 58 Frequent (79-30%)
4 nail dystrophy 58 Very frequent (99-80%)
5 onychogryposis 58 Very frequent (99-80%)
6 fragile nails 58 Very frequent (99-80%)
7 absent toenail 58 Occasional (29-5%)
8 onychogryposis of toenails 58 Frequent (79-30%)
9 fragile skin 58 Excluded (0%)
10 abnormality of skin morphology 58 Excluded (0%)
11 onychogryposis of fingernail 58 Frequent (79-30%)

Drugs & Therapeutics for Localized Dystrophic Epidermolysis Bullosa, Nails Only

Search Clinical Trials , NIH Clinical Center for Localized Dystrophic Epidermolysis Bullosa, Nails Only

Genetic Tests for Localized Dystrophic Epidermolysis Bullosa, Nails Only

Anatomical Context for Localized Dystrophic Epidermolysis Bullosa, Nails Only

Publications for Localized Dystrophic Epidermolysis Bullosa, Nails Only

Variations for Localized Dystrophic Epidermolysis Bullosa, Nails Only

Expression for Localized Dystrophic Epidermolysis Bullosa, Nails Only

Search GEO for disease gene expression data for Localized Dystrophic Epidermolysis Bullosa, Nails Only.

Pathways for Localized Dystrophic Epidermolysis Bullosa, Nails Only

GO Terms for Localized Dystrophic Epidermolysis Bullosa, Nails Only

Sources for Localized Dystrophic Epidermolysis Bullosa, Nails Only

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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