MCID: EPD027
MIFTS: 11

Epidermolysa Bullosa Simplex with Muscular Dystrophy

Categories: Rare diseases

Aliases & Classifications for Epidermolysa Bullosa Simplex with Muscular Dystrophy

MalaCards integrated aliases for Epidermolysa Bullosa Simplex with Muscular Dystrophy:

Name: Epidermolysa Bullosa Simplex with Muscular Dystrophy 54
Epidermolysa Bullosa Simplex and Limb Girdle Muscular Dystrophy 54 30 6 74
Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy 54
Epidermolysa Bullosa Simplex, with Muscular Dystrophy 41
Md-Ebs 54
Ebs-Md 54
Mdebs 54

Classifications:



External Ids:

UMLS 74 C2931072

Summaries for Epidermolysa Bullosa Simplex with Muscular Dystrophy

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 257Disease definitionEpidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.EpidemiologyPrevalence is unknown, but more than 40 cases have been reported to date.Clinical descriptionOnset of blistering is usually as early as birth, whereas muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present, including enamel hypoplasia with premature tooth decay, blistering in the oral cavity, pharynx and, rarely, larynx and trachea with inspiratory stridor and breathing difficulties requiring tracheotomy. Slowly progressive weakness of the head and limb muscles appears between the first year and the fourth decade of life and may confine the patient to a wheelchair. Additional neurological symptoms (ptosis, oculobulbar muscle weakness and fatigability) indicative of a myasthenic syndrome have been described in some patients.EtiologyEBS-MD is caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies.Genetic counselingTransmission is autosomal recessive.PrognosisFrom a prognostic point of view, immunohistochemical recognition of EBS-MD in infancy is particularly important, since in some patients the associated muscular dystrophy may not become apparent until later in childhood or adulthood. EBS-MD may have a fatal outcome.Visit the Orphanet disease page for more resources.

MalaCards based summary : Epidermolysa Bullosa Simplex with Muscular Dystrophy, also known as epidermolysa bullosa simplex and limb girdle muscular dystrophy, is related to epidermolysis bullosa simplex with muscular dystrophy and epidermolysis bullosa simplex with pyloric atresia. An important gene associated with Epidermolysa Bullosa Simplex with Muscular Dystrophy is PLEC (Plectin). Affiliated tissues include skin and trachea.

Related Diseases for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Diseases related to Epidermolysa Bullosa Simplex with Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex with muscular dystrophy 11.7
2 epidermolysis bullosa simplex with pyloric atresia 11.3

Symptoms & Phenotypes for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Drugs & Therapeutics for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Search Clinical Trials , NIH Clinical Center for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Genetic Tests for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Genetic tests related to Epidermolysa Bullosa Simplex with Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Epidermolysa Bullosa Simplex and Limb Girdle Muscular Dystrophy 30 PLEC

Anatomical Context for Epidermolysa Bullosa Simplex with Muscular Dystrophy

MalaCards organs/tissues related to Epidermolysa Bullosa Simplex with Muscular Dystrophy:

42
Skin, Trachea

Publications for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Variations for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Expression for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Search GEO for disease gene expression data for Epidermolysa Bullosa Simplex with Muscular Dystrophy.

Pathways for Epidermolysa Bullosa Simplex with Muscular Dystrophy

GO Terms for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Sources for Epidermolysa Bullosa Simplex with Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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