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 49 55
Eb Progressive 49 55
Jeb-Lo 49 55

Characteristics:

Orphanet epidemiological data:

55
late-onset junctional epidermolysis bullosa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

Classifications:



External Ids:

Orphanet 55 ORPHA79406
ICD10 via Orphanet 33 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, and has symptoms including atrophic scars, palmoplantar hyperhidrosis and adermatoglyphia. An important gene associated with Late-Onset Junctional Epidermolysis Bullosa is COL17A1 (Collagen Type XVII Alpha 1 Chain). Affiliated tissues include skin.

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:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atrophic scars 55 31 hallmark (90%) Very frequent (99-80%) HP:0001075
2 palmoplantar hyperhidrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0007410
3 adermatoglyphia 55 31 hallmark (90%) Very frequent (99-80%) HP:0007455
4 abnormal blistering of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0008066
5 nail dystrophy 55 31 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:

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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