MCID: LTN015
MIFTS: 20

Late-Onset Junctional Epidermolysis Bullosa

Categories: Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Late-Onset Junctional Epidermolysis Bullosa

MalaCards integrated aliases for Late-Onset Junctional Epidermolysis Bullosa:

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

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Adolescent,Adult,Childhood 58

Classifications:

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


Summaries for Late-Onset Junctional Epidermolysis Bullosa

Orphanet: 58 A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.

MalaCards based summary: Late-Onset Junctional Epidermolysis Bullosa, also known as epidermolysis bullosa progressiva, 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 skin and eye, and related phenotypes are nail dystrophy and anonychia

Related Diseases for Late-Onset Junctional Epidermolysis Bullosa

Symptoms & Phenotypes for Late-Onset Junctional Epidermolysis Bullosa

Human phenotypes related to Late-Onset Junctional Epidermolysis Bullosa:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008404
2 anonychia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001798
3 fragile skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0001030
4 adermatoglyphia 58 30 Frequent (33%) Frequent (79-30%)
HP:0007455
5 enamel hypoplasia 30 Frequent (33%) HP:0006297
6 hyperhidrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000975
7 carious teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000670
8 oral mucosal blisters 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200097
9 localized skin lesion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011355
10 hypoplastic dermoepidermal hemidesmosomes 58 30 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 hypoplasia of dental enamel 58 Frequent (79-30%)
24 abnormality of the scalp 58 Excluded (0%)
25 atrophic scars 58 Excluded (0%)
26 abnormal respiratory system morphology 58 Excluded (0%)
27 genital blistering 58 Excluded (0%)
28 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

Organs/tissues related to Late-Onset Junctional Epidermolysis Bullosa:

MalaCards : Skin, 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. 62
21466533 2011
2
Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa. 62
11359397 2001
3
Epidermolysis bullosa progressiva: a therapeutic suggestion. 62
3346398 1988
4
Epidermolysis bullosa progressiva. 62
3819051 1987

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

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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