MDEBS
MCID: EPD027
MIFTS: 11

Epidermolysa Bullosa Simplex with Muscular Dystrophy (MDEBS)

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 53
Epidermolysa Bullosa Simplex and Limb Girdle Muscular Dystrophy 53 29 6 73
Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy 53
Epidermolysa Bullosa Simplex, with Muscular Dystrophy 40
Md-Ebs 53
Ebs-Md 53
Mdebs 53

Classifications:



External Ids:

UMLS 73 C2931072

Summaries for Epidermolysa Bullosa Simplex with Muscular Dystrophy

NIH Rare Diseases : 53 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 11.6
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 29 PLEC

Anatomical Context for Epidermolysa Bullosa Simplex with Muscular Dystrophy

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

41
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 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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