MCID: LTN015
MIFTS: 19

Late-Onset Junctional Epidermolysis Bullosa

Categories: Fetal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Late-Onset Junctional Epidermolysis Bullosa

MalaCards integrated aliases for Late-Onset Junctional Epidermolysis Bullosa:

Name: Late-Onset Junctional Epidermolysis Bullosa 20 58
Jeb-Lo 20 58
Epidermolysis Bullosa Progressiva 58
Eb Progressive 20
Late-Onset Jeb 58

Characteristics:

Orphanet epidemiological data:

58
late-onset junctional epidermolysis bullosa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Late-Onset Junctional Epidermolysis Bullosa

MalaCards based summary : Late-Onset Junctional Epidermolysis Bullosa, also known as jeb-lo, is related to epidermolysis bullosa dystrophica neurotrophica and epidermolysis bullosa. An important gene associated with Late-Onset Junctional Epidermolysis Bullosa is COL17A1 (Collagen Type XVII Alpha 1 Chain). Affiliated tissues include eye, and related phenotypes are nail dystrophy and anonychia

Related Diseases for Late-Onset Junctional Epidermolysis Bullosa

Diseases in the Junctional Epidermolysis Bullosa family:

Late-Onset Junctional Epidermolysis Bullosa

Diseases related to Late-Onset Junctional Epidermolysis Bullosa via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica neurotrophica 11.5
2 epidermolysis bullosa 10.2
3 junctional epidermolysis bullosa 10.2

Symptoms & Phenotypes for Late-Onset Junctional Epidermolysis Bullosa

Human phenotypes related to Late-Onset Junctional Epidermolysis Bullosa:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008404
2 anonychia 58 31 frequent (33%) Frequent (79-30%) HP:0001798
3 hypoplasia of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0006297
4 fragile skin 58 31 frequent (33%) Frequent (79-30%) HP:0001030
5 adermatoglyphia 58 31 frequent (33%) Frequent (79-30%) HP:0007455
6 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
7 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
8 oral mucosal blisters 58 31 occasional (7.5%) Occasional (29-5%) HP:0200097
9 localized skin lesion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011355
10 hypoplastic dermoepidermal hemidesmosomes 58 31 occasional (7.5%) Occasional (29-5%) HP:0020117
11 anemia 58 Excluded (0%)
12 palmoplantar keratoderma 58 Excluded (0%)
13 growth delay 58 Excluded (0%)
14 gastrointestinal inflammation 58 Excluded (0%)
15 abnormality of the eye 58 Excluded (0%)
16 abnormality of the urinary system 58 Excluded (0%)
17 keloids 58 Excluded (0%)
18 basal cell carcinoma 58 Excluded (0%)
19 cutaneous melanoma 58 Excluded (0%)
20 abnormal blistering of the skin 58 Frequent (79-30%)
21 milia 58 Excluded (0%)
22 squamous cell carcinoma 58 Excluded (0%)
23 abnormality of the scalp 58 Excluded (0%)
24 atrophic scars 58 Excluded (0%)
25 abnormal respiratory system morphology 58 Excluded (0%)
26 genital blistering 58 Excluded (0%)
27 mitten deformity 58 Excluded (0%)

Drugs & Therapeutics for Late-Onset Junctional Epidermolysis Bullosa

Search Clinical Trials , NIH Clinical Center for Late-Onset Junctional Epidermolysis Bullosa

Genetic Tests for Late-Onset Junctional Epidermolysis Bullosa

Anatomical Context for Late-Onset Junctional Epidermolysis Bullosa

MalaCards organs/tissues related to Late-Onset Junctional Epidermolysis Bullosa:

40
Eye

Publications for Late-Onset Junctional Epidermolysis Bullosa

Articles related to Late-Onset Junctional Epidermolysis Bullosa:

# Title Authors PMID Year
1
Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1. 61
21466533 2011
2
Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa. 61
11359397 2001

Variations for Late-Onset Junctional Epidermolysis Bullosa

Expression for Late-Onset Junctional Epidermolysis Bullosa

Search GEO for disease gene expression data for Late-Onset Junctional Epidermolysis Bullosa.

Pathways for Late-Onset Junctional Epidermolysis Bullosa

GO Terms for Late-Onset Junctional Epidermolysis Bullosa

Sources for Late-Onset Junctional Epidermolysis Bullosa

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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