MD-EBS
MCID: EPD050
MIFTS: 46

Epidermolysis Bullosa Simplex with Muscular Dystrophy (MD-EBS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex with Muscular Dystrophy

MalaCards integrated aliases for Epidermolysis Bullosa Simplex with Muscular Dystrophy:

Name: Epidermolysis Bullosa Simplex with Muscular Dystrophy 58 12 60 15
Epidermolysis Bullosa Simplex and Limb-Girdle Muscular Dystrophy 58 12 76
Md-Ebs 58 76 56
Limb-Girdle Muscular Dystrophy with Epidermolysis Bullosa Simplex 12 60
Epidermolysa Bullosa Simplex and Limb Girdle Muscular Dystrophy 74
Epidermolysis Bullosa Simplex, with Muscular Dystrophy 76
Muscular Dystrophy with Epidermolysis Bullosa Simplex 13
Md-Ebs; Mdebs 58
Ebs-Md 60
Ebsmd 58
Mdebs 58

Characteristics:

Orphanet epidemiological data:

60
epidermolysis bullosa simplex with muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable survival (some neonatal lethality)


HPO:

33
epidermolysis bullosa simplex with muscular dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epidermolysis Bullosa Simplex with Muscular Dystrophy

OMIM : 58 Epidermolysis bullosa simplex with muscular dystrophy is an autosomal recessive disorder characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes (Fine et al., 1989). Fine et al. (1991) reported a revised classification of the subtypes of inherited epidermolysis bullosa. In reports of 2 consensus meetings on EB, 8,7:Fine et al. (2000, 2008) referred to EB with muscular dystrophy due to PLEC1 mutations as a form of basal simplex EB. 8,7:Fine et al. (2000, 2008) also eliminated the term 'hemidesmosomal,' which had previously been proposed for this entity (Uitto et al., 1997) because ultrastructural analysis can demonstrate tissue abnormalities of the hemidesmosomes. (226670)

MalaCards based summary : Epidermolysis Bullosa Simplex with Muscular Dystrophy, also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy, is related to epidermolysis bullosa simplex and epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa Simplex with Muscular Dystrophy is PLEC (Plectin), and among its related pathways/superpathways are Collagen chain trimerization and Cell junction organization. Affiliated tissues include skin and eye, and related phenotypes are dysphasia and myopathy

Disease Ontology : 12 An autosomal recessive disease characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has material basis in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.

UniProtKB/Swiss-Prot : 76 Epidermolysis bullosa simplex, with muscular dystrophy: A form of epidermolysis bullosa characterized by the association of blister formation at the level of the hemidesmosome with late-onset muscular dystrophy.

Related Diseases for Epidermolysis Bullosa Simplex with Muscular Dystrophy

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex 31.3 COL17A1 DST PLEC
2 epidermolysis bullosa 31.1 COL17A1 DST LAMA3 PLEC
3 junctional epidermolysis bullosa 30.3 COL17A1 DST LAMA3
4 epidermolysa bullosa simplex with muscular dystrophy 11.6
5 epidermolysis bullosa simplex with pyloric atresia 11.3
6 muscular dystrophy 10.9
7 alopecia 10.4
8 dilated cardiomyopathy 10.3
9 pyloric atresia 10.2 COL17A1 PLEC
10 alexander disease 10.2 PLEC SYNM
11 epithelial basement membrane dystrophy 10.1 COL17A1 PLEC
12 lichen planus pemphigoides 10.1 COL17A1 DST
13 pemphigoid gestationis 10.1 COL17A1 DST
14 linear iga disease 10.1 COL17A1 DST
15 neurotic excoriation 10.1 COL17A1 DST
16 lichen disease 10.0 COL17A1 DST
17 ecthyma 10.0 COL17A1 DST
18 bullous skin disease 10.0 COL17A1 DST LAMA3
19 epidermolysis bullosa acquisita 10.0 COL17A1 DST LAMA3
20 epidermolysis bullosa junctionalis with pyloric atresia 10.0 COL17A1 DST PLEC
21 cicatricial pemphigoid 10.0 COL17A1 DST LAMA3
22 cellulitis 10.0 COL17A1 DST LAMA3
23 subcorneal pustular dermatosis 9.9 COL17A1 DST
24 paraneoplastic pemphigus 9.9 COL17A1 DST
25 familial isolated dilated cardiomyopathy 9.9 LAMA4 VCL
26 vesiculobullous skin disease 9.9 COL17A1 DST LAMA3 PLEC
27 skin disease 9.8 COL17A1 DST LAMA3 PLEC
28 autoimmune disease of skin and connective tissue 9.8 COL17A1 DST LAMA3 PLEC
29 epidermolysis bullosa, junctional, non-herlitz type 9.8 COL17A1 DST LAMA3 PLEC
30 bullous pemphigoid 9.8 COL17A1 DST LAMA3 PLEC

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex with Muscular Dystrophy:



Diseases related to Epidermolysis Bullosa Simplex with Muscular Dystrophy

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex with Muscular Dystrophy

Human phenotypes related to Epidermolysis Bullosa Simplex with Muscular Dystrophy:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002357
2 myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003198
3 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
4 hyperconvex fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001812
5 aphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002381
6 ophthalmoplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000602
7 hypoplastic fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001804
8 skin vesicle 60 33 hallmark (90%) Very frequent (99-80%) HP:0200037
9 oculomotor nerve palsy 60 33 hallmark (90%) Very frequent (99-80%) HP:0012246
10 muscle flaccidity 60 33 hallmark (90%) Very frequent (99-80%) HP:0010547
11 echolalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010529
12 mutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002300
13 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
14 abnormality of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0000682
15 papule 60 33 frequent (33%) Frequent (79-30%) HP:0200034
16 dermal atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0004334
17 fatigue 60 33 occasional (7.5%) Occasional (29-5%) HP:0012378
18 fatigable weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003473
19 carious teeth 33 HP:0000670
20 short stature 33 HP:0004322
21 anemia 33 HP:0001903
22 nail dystrophy 33 HP:0008404
23 abnormal blistering of the skin 33 HP:0008066
24 ophthalmoparesis 60 Very frequent (99-80%)
25 neonatal respiratory distress 33 HP:0002643
26 keratitis 33 HP:0000491
27 aplasia/hypoplasia of the skin 60 Frequent (79-30%)
28 nail dysplasia 33 HP:0002164
29 muscular dystrophy 33 HP:0003560
30 increased connective tissue 33 HP:0009025
31 palmoplantar hyperkeratosis 33 HP:0000972
32 hypoplasia of dental enamel 33 HP:0006297
33 milia 33 HP:0001056
34 urethral stricture 33 HP:0012227
35 scarring alopecia of scalp 33 HP:0004552
36 punctate keratitis 33 HP:0011859

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Skin Nails Hair Nails:
nail dystrophy

Skin Nails Hair Hair:
scarring alopecia of scalp

Head And Neck Teeth:
enamel hypoplasia
frequent caries

Head And Neck Mouth:
blistering of mucous membranes

Genitourinary Bladder:
urethral strictures

Skin Nails Hair Skin Electron Microscopy:
blister plane in lowest portion of basal keratinocytes, just above hemidesmosomes
hypoplastic hemidesmosomes

Hematology:
anemia

Skin Nails Hair Skin:
milia
palmoplantar keratosis
blistering, generalized, neonatal onset
minimal or absent scarring

Head And Neck Eyes:
punctate keratitis

Growth Weight:
slow weight gain

Respiratory:
infantile respiratory distress

Skin Nails Hair Skin Histology:
negative staining with hd121

Muscle Soft Tissue:
muscular dystrophy with variable age of onset (infancy to young adult)
degenerative changes with increased connective tissue

Clinical features from OMIM:

226670

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex with Muscular Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 CKM LAMA4 MFN2 PLEC SYNC SYNM
2 growth/size/body region MP:0005378 9.56 AHSG CKM LAMA3 LAMA4 MFN2 PLEC
3 muscle MP:0005369 9.23 AHSG CKM LAMA4 MFN2 PLEC SYNC

Drugs & Therapeutics for Epidermolysis Bullosa Simplex with Muscular Dystrophy

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

Genetic Tests for Epidermolysis Bullosa Simplex with Muscular Dystrophy

Anatomical Context for Epidermolysis Bullosa Simplex with Muscular Dystrophy

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

42
Skin, Eye

Publications for Epidermolysis Bullosa Simplex with Muscular Dystrophy

Articles related to Epidermolysis Bullosa Simplex with Muscular Dystrophy:

(show all 16)
# Title Authors Year
1
A novel PLEC nonsense homozygous mutation (c.7159Ga88&amp;gt;a88T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. ( 29352809 )
2018
2
Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families. ( 29797489 )
2018
3
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy. ( 27121971 )
2016
4
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report. ( 28400893 )
2016
5
Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation. ( 27766310 )
2016
6
Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. ( 25454730 )
2015
7
Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia. ( 25209331 )
2014
8
New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy. ( 23496806 )
2013
9
Epidermolysis bullosa simplex with muscular dystrophy. ( 20447487 )
2010
10
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. ( 20016501 )
2010
11
Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. ( 16967486 )
2007
12
Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation. ( 15206692 )
2004
13
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. ( 14963703 )
2004
14
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. ( 12071635 )
2002
15
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. ( 8941634 )
1996
16
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. ( 8636409 )
1996

Variations for Epidermolysis Bullosa Simplex with Muscular Dystrophy

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

6 (show top 50) (show all 1706)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh37 Chromosome 8, 144996236: 144996236
2 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh38 Chromosome 8, 143922068: 143922068
3 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh37 Chromosome 8, 144999499: 144999499
4 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh38 Chromosome 8, 143925331: 143925331
5 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh37 Chromosome 8, 144998621: 144998621
6 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh38 Chromosome 8, 143924453: 143924453
7 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh37 Chromosome 8, 144992552: 144992552
8 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh38 Chromosome 8, 143918384: 143918384
9 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh37 Chromosome 8, 144992781: 144992781
10 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh38 Chromosome 8, 143918613: 143918613
11 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh37 Chromosome 8, 144996159: 144996159
12 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh38 Chromosome 8, 143921991: 143921991
13 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh37 Chromosome 8, 144998781: 144998781
14 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh38 Chromosome 8, 143924613: 143924613
15 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh37 Chromosome 8, 145012789: 145012789
16 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh38 Chromosome 8, 143938621: 143938621
17 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh37 Chromosome 8, 145008990: 145008990
18 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh38 Chromosome 8, 143934822: 143934822
19 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh37 Chromosome 8, 145008497: 145008497
20 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh38 Chromosome 8, 143934329: 143934329
21 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh37 Chromosome 8, 145007153: 145007153
22 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh38 Chromosome 8, 143932985: 143932985
23 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh37 Chromosome 8, 145005769: 145005769
24 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh38 Chromosome 8, 143931601: 143931601
25 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh37 Chromosome 8, 145004474: 145004474
26 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh38 Chromosome 8, 143930306: 143930306
27 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh37 Chromosome 8, 145004373: 145004373
28 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh38 Chromosome 8, 143930205: 143930205
29 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh37 Chromosome 8, 145003893: 145003893
30 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh38 Chromosome 8, 143929725: 143929725
31 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh37 Chromosome 8, 145003702: 145003702
32 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh38 Chromosome 8, 143929534: 143929534
33 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh37 Chromosome 8, 145003685: 145003685
34 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh38 Chromosome 8, 143929517: 143929517
35 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh37 Chromosome 8, 145003360: 145003360
36 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh38 Chromosome 8, 143929192: 143929192
37 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh37 Chromosome 8, 145003321: 145003321
38 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh38 Chromosome 8, 143929153: 143929153
39 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh37 Chromosome 8, 145001589: 145001589
40 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh38 Chromosome 8, 143927421: 143927421
41 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh37 Chromosome 8, 145001603: 145001603
42 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh38 Chromosome 8, 143927435: 143927435
43 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Benign/Likely benign rs151022876 GRCh37 Chromosome 8, 145001482: 145001482
44 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Benign/Likely benign rs151022876 GRCh38 Chromosome 8, 143927314: 143927314
45 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs148465219 GRCh37 Chromosome 8, 145001205: 145001205
46 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs148465219 GRCh38 Chromosome 8, 143927037: 143927037
47 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh37 Chromosome 8, 145000968: 145000968
48 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh38 Chromosome 8, 143926800: 143926800
49 PLEC NM_000445.4(PLEC): c.7348G> A (p.Ala2450Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193257576 GRCh37 Chromosome 8, 144996830: 144996830
50 PLEC NM_000445.4(PLEC): c.7348G> A (p.Ala2450Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193257576 GRCh38 Chromosome 8, 143922662: 143922662

Expression for Epidermolysis Bullosa Simplex with Muscular Dystrophy

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

Pathways for Epidermolysis Bullosa Simplex with Muscular Dystrophy

GO Terms for Epidermolysis Bullosa Simplex with Muscular Dystrophy

Cellular components related to Epidermolysis Bullosa Simplex with Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.8 COL17A1 DST PLEC SYNM VCL
2 collagen-containing extracellular matrix GO:0062023 9.67 AHSG COL17A1 LAMA3 LAMA4
3 intermediate filament GO:0005882 9.62 DST PLEC SYNC SYNM
4 sarcolemma GO:0042383 9.56 PLEC SYNC SYNM VCL
5 basement membrane GO:0005604 9.46 COL17A1 DST LAMA3 LAMA4
6 costamere GO:0043034 9.13 PLEC SYNM VCL
7 hemidesmosome GO:0030056 8.8 COL17A1 DST PLEC

Biological processes related to Epidermolysis Bullosa Simplex with Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.71 DST LAMA3 LAMA4 VCL
2 extracellular matrix organization GO:0030198 9.5 COL17A1 LAMA3 LAMA4
3 regulation of cell adhesion GO:0030155 9.37 LAMA3 LAMA4
4 regulation of cell migration GO:0030334 9.33 LAMA3 LAMA4 VCL
5 regulation of embryonic development GO:0045995 9.26 LAMA3 LAMA4
6 intermediate filament cytoskeleton organization GO:0045104 9.13 DST PLEC SYNM
7 hemidesmosome assembly GO:0031581 8.92 COL17A1 DST LAMA3 PLEC

Molecular functions related to Epidermolysis Bullosa Simplex with Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.16 PLEC SYNM
2 extracellular matrix structural constituent GO:0005201 9.13 COL17A1 LAMA3 LAMA4
3 structural molecule activity GO:0005198 9.02 DST LAMA3 PLEC SYNC VCL

Sources for Epidermolysis Bullosa Simplex with Muscular Dystrophy

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