MCID: EPD027
MIFTS: 12

Epidermolysa Bullosa Simplex with Muscular Dystrophy

Categories: Rare diseases, Skin diseases, Muscle 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:



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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. An important gene associated with Epidermolysa Bullosa Simplex with Muscular Dystrophy is PLEC (Plectin). Affiliated tissues include trachea and skin.

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 11.2

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
Trachea, Skin

Publications for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Variations for Epidermolysa Bullosa Simplex with Muscular Dystrophy

ClinVar genetic disease variations for Epidermolysa Bullosa Simplex with Muscular Dystrophy:

6
(show top 50) (show all 1246)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_000445.4(PLEC): c.5856_5863dupGGAGATCC (p.Leu1955Argfs) duplication Pathogenic rs786205251 GRCh38 Chromosome 8, 143924147: 143924154
2 PLEC NM_000445.4(PLEC): c.5856_5863dupGGAGATCC (p.Leu1955Argfs) duplication Pathogenic rs786205251 GRCh37 Chromosome 8, 144998315: 144998322
3 PLEC NM_000445.4(PLEC): c.5815delC (p.Leu1939Trpfs) deletion Pathogenic rs786205253 GRCh38 Chromosome 8, 143924195: 143924195
4 PLEC NM_000445.4(PLEC): c.5815delC (p.Leu1939Trpfs) deletion Pathogenic rs786205253 GRCh37 Chromosome 8, 144998363: 144998363
5 PLEC NM_000445.4(PLEC): c.5105_5112delGGCGCGGC (p.Arg1702Glnfs) deletion Pathogenic rs786205254 GRCh38 Chromosome 8, 143924898: 143924905
6 PLEC NM_000445.4(PLEC): c.5105_5112delGGCGCGGC (p.Arg1702Glnfs) deletion Pathogenic rs786205254 GRCh37 Chromosome 8, 144999066: 144999073
7 PLEC NM_201378.3(PLEC): c.11920dupG (p.Glu3974Glyfs) duplication Pathogenic rs864309674 GRCh37 Chromosome 8, 144992027: 144992027
8 PLEC NM_201378.3(PLEC): c.11920dupG (p.Glu3974Glyfs) duplication Pathogenic rs864309674 GRCh38 Chromosome 8, 143917859: 143917859
9 PLEC NM_000445.4(PLEC): c.6169C> T (p.Gln2057Ter) single nucleotide variant Pathogenic rs387906801 GRCh37 Chromosome 8, 144998009: 144998009
10 PLEC NM_000445.4(PLEC): c.6169C> T (p.Gln2057Ter) single nucleotide variant Pathogenic rs387906801 GRCh38 Chromosome 8, 143923841: 143923841
11 PLEC NM_000445.4(PLEC): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs387906802 GRCh37 Chromosome 8, 144997223: 144997223
12 PLEC NM_000445.4(PLEC): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs387906802 GRCh38 Chromosome 8, 143923055: 143923055
13 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh37 Chromosome 8, 144996236: 144996236
14 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh38 Chromosome 8, 143922068: 143922068
15 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh37 Chromosome 8, 144999499: 144999499
16 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh38 Chromosome 8, 143925331: 143925331
17 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh37 Chromosome 8, 144998621: 144998621
18 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh38 Chromosome 8, 143924453: 143924453
19 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh37 Chromosome 8, 144992552: 144992552
20 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh38 Chromosome 8, 143918384: 143918384
21 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh37 Chromosome 8, 144992781: 144992781
22 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh38 Chromosome 8, 143918613: 143918613
23 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh37 Chromosome 8, 144996159: 144996159
24 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh38 Chromosome 8, 143921991: 143921991
25 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh37 Chromosome 8, 144998781: 144998781
26 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh38 Chromosome 8, 143924613: 143924613
27 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh37 Chromosome 8, 145012789: 145012789
28 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh38 Chromosome 8, 143938621: 143938621
29 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh37 Chromosome 8, 145008990: 145008990
30 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh38 Chromosome 8, 143934822: 143934822
31 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh37 Chromosome 8, 145008497: 145008497
32 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh38 Chromosome 8, 143934329: 143934329
33 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh37 Chromosome 8, 145007153: 145007153
34 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh38 Chromosome 8, 143932985: 143932985
35 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh37 Chromosome 8, 145005769: 145005769
36 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh38 Chromosome 8, 143931601: 143931601
37 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh37 Chromosome 8, 145004474: 145004474
38 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh38 Chromosome 8, 143930306: 143930306
39 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh37 Chromosome 8, 145004373: 145004373
40 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh38 Chromosome 8, 143930205: 143930205
41 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh37 Chromosome 8, 145003893: 145003893
42 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh38 Chromosome 8, 143929725: 143929725
43 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh37 Chromosome 8, 145003702: 145003702
44 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh38 Chromosome 8, 143929534: 143929534
45 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh37 Chromosome 8, 145003685: 145003685
46 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh38 Chromosome 8, 143929517: 143929517
47 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh37 Chromosome 8, 145003360: 145003360
48 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh38 Chromosome 8, 143929192: 143929192
49 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh37 Chromosome 8, 145003321: 145003321
50 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh38 Chromosome 8, 143929153: 143929153

Expression for Epidermolysa Bullosa Simplex with Muscular Dystrophy

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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

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