MCID: LTN023
MIFTS: 6

Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Late-Onset Localized Junctional Epidermolysis...

MalaCards integrated aliases for Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome:

Name: Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome 52
Epidermolysis Bullosa Simplex Localisata Associated with Anodontia, Hair and Nail Disorders 52

Classifications:



Summaries for Late-Onset Localized Junctional Epidermolysis...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 231556 Definition Late-onset localized jonctional epidermolysis bullosa-intellectual disability syndrome is a rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. Visit the Orphanet disease page for more resources.

MalaCards based summary : Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome, also known as epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders, is related to epidermolysis bullosa, late-onset localized junctional, with mental retardation and anodontia. Affiliated tissues include skin.

Related Diseases for Late-Onset Localized Junctional Epidermolysis...

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

# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, late-onset localized junctional, with mental retardation 11.9
2 anodontia 10.6
3 epidermolysis bullosa 10.6
4 epidermolysis bullosa simplex 10.6

Symptoms & Phenotypes for Late-Onset Localized Junctional Epidermolysis...

Drugs & Therapeutics for Late-Onset Localized Junctional Epidermolysis...

Search Clinical Trials , NIH Clinical Center for Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome

Genetic Tests for Late-Onset Localized Junctional Epidermolysis...

Anatomical Context for Late-Onset Localized Junctional Epidermolysis...

MalaCards organs/tissues related to Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome:

40
Skin

Publications for Late-Onset Localized Junctional Epidermolysis...

Articles related to Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome:

# Title Authors PMID Year
1
Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders: a new syndrome. 61
2420118 1985

Variations for Late-Onset Localized Junctional Epidermolysis...

Expression for Late-Onset Localized Junctional Epidermolysis...

Search GEO for disease gene expression data for Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome.

Pathways for Late-Onset Localized Junctional Epidermolysis...

GO Terms for Late-Onset Localized Junctional Epidermolysis...

Sources for Late-Onset Localized Junctional Epidermolysis...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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