MCID: LTN015
MIFTS: 15

Late-Onset Junctional Epidermolysis Bullosa

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

Aliases & Classifications for Late-Onset Junctional Epidermolysis Bullosa

MalaCards integrated aliases for Late-Onset Junctional Epidermolysis Bullosa:

Name: Late-Onset Junctional Epidermolysis Bullosa 50 56
Eb Progressive 50 56
Jeb-Lo 50 56

Characteristics:

Orphanet epidemiological data:

56
late-onset junctional epidermolysis bullosa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

Classifications:



External Ids:

Orphanet 56 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, 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 Col17a1-Related Junctional Epidermolysis Bullosa
Lama3-Related Junctional Epidermolysis Bullosa Lamb3-Related Junctional Epidermolysis Bullosa
Lamc2-Related Junctional Epidermolysis Bullosa

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

id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 10.0
2 junctional epidermolysis bullosa 10.0

Symptoms & Phenotypes for Late-Onset Junctional Epidermolysis Bullosa

Human phenotypes related to Late-Onset Junctional Epidermolysis Bullosa:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atrophic scars 56 32 hallmark (90%) Very frequent (99-80%) HP:0001075
2 palmoplantar hyperhidrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0007410
3 adermatoglyphia 56 32 hallmark (90%) Very frequent (99-80%) HP:0007455
4 abnormal blistering of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0008066
5 nail dystrophy 56 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:

39
Skin

Publications for Late-Onset Junctional Epidermolysis Bullosa

Articles related to Late-Onset Junctional Epidermolysis Bullosa:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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