MCID: LCL024
MIFTS: 11

Localized Dystrophic Epidermolysis Bullosa, Nails Only

Categories: Fetal diseases, Rare diseases, Skin diseases
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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:


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


External Ids:

ICD10 via Orphanet 32 Q81.2
Orphanet 58 ORPHA158676

Summaries for Localized Dystrophic Epidermolysis Bullosa, Nails Only

Orphanet: 58 A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.

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). Affiliated tissues include skin, and related phenotypes are fragile nails and dystrophic toenail

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 30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fragile nails 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001808
2 dystrophic toenail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001810
3 dystrophic fingernails 58 30 Frequent (33%) Frequent (79-30%)
HP:0008391
4 onychogryposis of toenails 58 30 Frequent (33%) Frequent (79-30%)
HP:0008401
5 onychogryposis of fingernail 58 30 Frequent (33%) Frequent (79-30%)
HP:0040036
6 absent toenail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001802
7 abnormal blistering of the skin 58 Excluded (0%)
8 nail dystrophy 58 Very frequent (99-80%)
9 fragile skin 58 Excluded (0%)
10 abnormality of skin morphology 58 Excluded (0%)
11 onychogryposis 58 Very frequent (99-80%)

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

Organs/tissues related to Localized Dystrophic Epidermolysis Bullosa, Nails Only:

MalaCards : Skin

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

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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