MD-EBS
MCID: EPD050
MIFTS: 45

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 31)
# 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 diffuse alopecia areata 10.4
9 dilated cardiomyopathy 10.3
10 pyloric atresia 10.2 COL17A1 PLEC
11 alexander disease 10.2 PLEC SYNM
12 epithelial basement membrane dystrophy 10.1 COL17A1 PLEC
13 lichen planus pemphigoides 10.1 COL17A1 DST
14 pemphigoid gestationis 10.1 COL17A1 DST
15 linear iga disease 10.1 COL17A1 DST
16 neurotic excoriation 10.1 COL17A1 DST
17 lichen disease 10.1 COL17A1 DST
18 ecthyma 10.0 COL17A1 DST
19 bullous skin disease 10.0 COL17A1 DST LAMA3
20 epidermolysis bullosa acquisita 10.0 COL17A1 DST LAMA3
21 epidermolysis bullosa junctionalis with pyloric atresia 10.0 COL17A1 DST PLEC
22 cicatricial pemphigoid 10.0 COL17A1 DST LAMA3
23 cellulitis 10.0 COL17A1 DST LAMA3
24 subcorneal pustular dermatosis 10.0 COL17A1 DST
25 paraneoplastic pemphigus 9.9 COL17A1 DST
26 familial isolated dilated cardiomyopathy 9.9 LAMA4 VCL
27 vesiculobullous skin disease 9.9 COL17A1 DST LAMA3 PLEC
28 skin disease 9.9 COL17A1 DST LAMA3 PLEC
29 autoimmune disease of skin and connective tissue 9.8 COL17A1 DST LAMA3 PLEC
30 epidermolysis bullosa, junctional, non-herlitz type 9.8 COL17A1 DST LAMA3 PLEC
31 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 increased connective tissue 33 HP:0009025
30 muscular dystrophy 33 HP:0003560
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 21)
# Title Authors Year
1
A novel PLEC nonsense homozygous mutation (c.7159G > T; 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
Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation. ( 27766310 )
2016
4
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report. ( 28400893 )
2016
5
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy. ( 27121971 )
2016
6
Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia. ( 25209331 )
2015
7
Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. ( 25454730 )
2015
8
New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy. ( 23496806 )
2013
9
Myasthenic syndrome caused by plectinopathy. ( 21263134 )
2011
10
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. ( 20016501 )
2010
11
Epidermolysis bullosa simplex with muscular dystrophy. ( 20447487 )
2010
12
Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. ( 16967486 )
2007
13
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. ( 14963703 )
2004
14
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
15
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. ( 12071635 )
2002
16
Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. ( 10446808 )
1999
17
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. ( 8894687 )
1996
18
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. ( 8941634 )
1996
19
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. ( 8636409 )
1996
20
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. ( 8696340 )
1996
21
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. ( 8698233 )
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 1718)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_201382.3(PLEC): c.5775_5782dup (p.Leu1928Argfs) duplication Pathogenic rs786205251 GRCh38 Chromosome 8, 143924147: 143924154
2 PLEC NM_201382.3(PLEC): c.5775_5782dup (p.Leu1928Argfs) duplication Pathogenic rs786205251 GRCh37 Chromosome 8, 144998315: 144998322
3 PLEC NM_000445.4(PLEC): c.2677_2685delCAGGAGGCC (p.Gln893_Ala895del) deletion Uncertain significance rs786205252 GRCh37 Chromosome 8, 145004320: 145004328
4 PLEC NM_000445.4(PLEC): c.2677_2685delCAGGAGGCC (p.Gln893_Ala895del) deletion Uncertain significance rs786205252 GRCh38 Chromosome 8, 143930152: 143930160
5 PLEC NM_000445.4(PLEC): c.5815delC (p.Leu1939Trpfs) deletion Pathogenic rs786205253 GRCh38 Chromosome 8, 143924195: 143924195
6 PLEC NM_000445.4(PLEC): c.5815delC (p.Leu1939Trpfs) deletion Pathogenic rs786205253 GRCh37 Chromosome 8, 144998363: 144998363
7 PLEC NM_000445.4(PLEC): c.5105_5112delGGCGCGGC (p.Arg1702Glnfs) deletion Pathogenic rs786205254 GRCh38 Chromosome 8, 143924898: 143924905
8 PLEC NM_000445.4(PLEC): c.5105_5112delGGCGCGGC (p.Arg1702Glnfs) deletion Pathogenic rs786205254 GRCh37 Chromosome 8, 144999066: 144999073
9 PLEC NM_000445.4(PLEC): c.12043dupG (p.Glu4015Glyfs) duplication Pathogenic rs864309674 GRCh37 Chromosome 8, 144992027: 144992027
10 PLEC NM_000445.4(PLEC): c.12043dupG (p.Glu4015Glyfs) duplication Pathogenic rs864309674 GRCh38 Chromosome 8, 143917859: 143917859
11 PLEC NM_000445.4(PLEC): c.6169C> T (p.Gln2057Ter) single nucleotide variant Pathogenic rs387906801 GRCh37 Chromosome 8, 144998009: 144998009
12 PLEC NM_000445.4(PLEC): c.6169C> T (p.Gln2057Ter) single nucleotide variant Pathogenic rs387906801 GRCh38 Chromosome 8, 143923841: 143923841
13 PLEC NM_000445.4(PLEC): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs387906802 GRCh37 Chromosome 8, 144997223: 144997223
14 PLEC NM_000445.4(PLEC): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs387906802 GRCh38 Chromosome 8, 143923055: 143923055
15 PLEC NM_000445.4(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh37 Chromosome 8, 144994064: 144994064
16 PLEC NM_000445.4(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh38 Chromosome 8, 143919896: 143919896
17 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh37 Chromosome 8, 144994044: 144994044
18 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh38 Chromosome 8, 143919876: 143919876
19 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh37 Chromosome 8, 144993572: 144993572
20 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh38 Chromosome 8, 143919404: 143919404
21 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh37 Chromosome 8, 144993333: 144993333
22 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh38 Chromosome 8, 143919165: 143919165
23 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh37 Chromosome 8, 144993230: 144993230
24 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh38 Chromosome 8, 143919062: 143919062
25 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh37 Chromosome 8, 144992049: 144992049
26 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh38 Chromosome 8, 143917881: 143917881
27 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh37 Chromosome 8, 144991995: 144991995
28 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh38 Chromosome 8, 143917827: 143917827
29 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh37 Chromosome 8, 144991428: 144991428
30 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh38 Chromosome 8, 143917260: 143917260
31 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh37 Chromosome 8, 144991205: 144991205
32 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh38 Chromosome 8, 143917037: 143917037
33 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh37 Chromosome 8, 144990879: 144990879
34 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh38 Chromosome 8, 143916711: 143916711
35 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh37 Chromosome 8, 144990587: 144990587
36 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh38 Chromosome 8, 143916419: 143916419
37 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh37 Chromosome 8, 145006793: 145006793
38 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh38 Chromosome 8, 143932625: 143932625
39 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh37 Chromosome 8, 145006096: 145006096
40 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh38 Chromosome 8, 143931928: 143931928
41 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh37 Chromosome 8, 145004714: 145004714
42 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh38 Chromosome 8, 143930546: 143930546
43 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh37 Chromosome 8, 145002070: 145002070
44 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh38 Chromosome 8, 143927902: 143927902
45 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh37 Chromosome 8, 145002043: 145002043
46 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh38 Chromosome 8, 143927875: 143927875
47 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh37 Chromosome 8, 145001652: 145001652
48 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh38 Chromosome 8, 143927484: 143927484
49 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh37 Chromosome 8, 145001512: 145001512
50 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh38 Chromosome 8, 143927344: 143927344

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 8.92 DST LAMA3 PLEC VCL

Sources for Epidermolysis Bullosa Simplex with Muscular Dystrophy

3 CDC
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17 EFO
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35 ICD10 via Orphanet
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70 SNOMED-CT via HPO
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