MCID: LTN015
MIFTS: 16

Late-Onset Junctional Epidermolysis Bullosa

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

Aliases & Classifications for Late-Onset Junctional Epidermolysis Bullosa

MalaCards integrated aliases for Late-Onset Junctional Epidermolysis Bullosa:

Name: Late-Onset Junctional Epidermolysis Bullosa 53 59
Eb Progressive 53 59
Jeb-Lo 53 59

Characteristics:

Orphanet epidemiological data:

59
late-onset junctional epidermolysis bullosa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA79406
ICD10 via Orphanet 34 Q81.8

Summaries for Late-Onset Junctional Epidermolysis Bullosa

MalaCards based summary : Late-Onset Junctional Epidermolysis Bullosa, also known as eb progressive, is related to epidermolysis bullosa and junctional 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 related phenotypes are atrophic scars and palmoplantar hyperhidrosis

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 10.1
2 junctional epidermolysis bullosa 10.1

Symptoms & Phenotypes for Late-Onset Junctional Epidermolysis Bullosa

Human phenotypes related to Late-Onset Junctional Epidermolysis Bullosa:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atrophic scars 59 32 hallmark (90%) Very frequent (99-80%) HP:0001075
2 palmoplantar hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007410
3 adermatoglyphia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007455
4 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
5 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008404

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:

41
Skin

Publications for Late-Onset Junctional Epidermolysis Bullosa

Articles related to Late-Onset Junctional Epidermolysis Bullosa:

# Title Authors Year
1
Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa. ( 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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