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 57 12 59 15
Epidermolysis Bullosa Simplex and Limb-Girdle Muscular Dystrophy 57 12 75
Md-Ebs 57 75 55
Limb-Girdle Muscular Dystrophy with Epidermolysis Bullosa Simplex 12 59
Epidermolysa Bullosa Simplex and Limb Girdle Muscular Dystrophy 73
Epidermolysis Bullosa Simplex, with Muscular Dystrophy 75
Muscular Dystrophy with Epidermolysis Bullosa Simplex 13
Muscular Dystrophies, Limb-Girdle 44
Dystrophy, Muscular, Limb-Girdle 40
Md-Ebs; Mdebs 57
Ebs-Md 59
Ebsmd 57
Mdebs 57

Characteristics:

Orphanet epidemiological data:

59
epidermolysis bullosa simplex with muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable survival (some neonatal lethality)


HPO:

32
epidermolysis bullosa simplex with muscular dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epidermolysis Bullosa Simplex with Muscular Dystrophy

OMIM : 57 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 and epidermolysis bullosa simplex. An important gene associated with Epidermolysis Bullosa Simplex with Muscular Dystrophy is PLEC (Plectin), and among its related pathways/superpathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, eye and tongue, and related phenotypes are ptosis and dysphasia

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 : 75 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 top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 31.4 COL17A1 DST PLEC
2 epidermolysis bullosa simplex 31.4 COL17A1 DST PLEC
3 junctional epidermolysis bullosa 30.4 COL17A1 DST
4 muscular dystrophy, limb-girdle, autosomal recessive 2 12.6
5 muscular dystrophy, limb-girdle, autosomal dominant 1 12.6
6 muscular dystrophy, limb-girdle, autosomal recessive 1 12.6
7 muscular dystrophy, limb-girdle, autosomal recessive 8 12.5
8 muscular dystrophy, limb-girdle, autosomal recessive 6 12.5
9 muscular dystrophy, limb-girdle, autosomal recessive 7 12.5
10 muscular dystrophy, limb-girdle, autosomal recessive 3 12.5
11 muscular dystrophy, limb-girdle, autosomal dominant 2 12.5
12 muscular dystrophy, limb-girdle, autosomal recessive 10 12.5
13 muscular dystrophy, limb-girdle, autosomal recessive 12 12.5
14 muscular dystrophy, limb-girdle, type 1h 12.5
15 muscular dystrophy, limb-girdle, autosomal recessive 17 12.5
16 muscular dystrophy, limb-girdle, autosomal recessive 21 12.5
17 muscular dystrophy, limb-girdle, autosomal recessive 5 12.5
18 muscular dystrophy, limb-girdle, autosomal recessive 4 12.5
19 muscular dystrophy, limb-girdle, autosomal dominant 4 12.5
20 muscular dystrophy, limb-girdle, autosomal dominant 3 12.5
21 muscular dystrophy, limb-girdle, autosomal recessive 18 12.5
22 muscular dystrophy, limb-girdle, autosomal recessive 23 12.5
23 muscular dystrophy limb girdle type 2a, erb type 12.4
24 limb-girdle muscular dystrophy 12.2
25 emery-dreifuss muscular dystrophy 2, autosomal dominant 11.9
26 myopathy, autosomal recessive, with rigid spine and distal joint contractures 11.8
27 muscular dystrophy-dystroglycanopathy , type c, 5 11.8
28 muscular dystrophy-dystroglycanopathy , type c, 1 11.8
29 muscular dystrophy-dystroglycanopathy , type c, 9 11.8
30 muscular dystrophy-dystroglycanopathy , type c, 14 11.8
31 muscular dystrophy-dystroglycanopathy , type c, 7 11.8
32 muscular dystrophy-dystroglycanopathy , type c, 4 11.8
33 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 11.8
34 autosomal recessive limb-girdle muscular dystrophy type 2b 11.7
35 myopathy, myofibrillar, 3 11.7
36 muscular dystrophy-dystroglycanopathy , type c, 3 11.7
37 muscular dystrophy-dystroglycanopathy , type c, 2 11.7
38 cardiac arrhythmia with increased serum creatine kinase 11.7
39 autosomal dominant limb-girdle muscular dystrophy type 1c 11.7
40 autosomal recessive limb-girdle muscular dystrophy type 2r 11.7
41 bethlem myopathy 1 11.6
42 ullrich congenital muscular dystrophy 1 11.6
43 myopathy, myofibrillar, 1 11.6
44 rippling muscle disease 2 11.6
45 muscular dystrophy-dystroglycanopathy , type c, 8 11.6
46 autosomal recessive limb-girdle muscular dystrophy 11.6
47 autosomal dominant limb-girdle muscular dystrophy type 1a 11.6
48 autosomal dominant limb-girdle muscular dystrophy type 1b 11.6
49 autosomal dominant limb-girdle muscular dystrophy type 1f 11.6
50 epidermolysa bullosa simplex with muscular dystrophy 11.5

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epidermolysis Bullosa Simplex with Muscular Dystrophy:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
3 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
4 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
5 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
6 hyperconvex fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001812
7 aphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002381
8 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
9 papule 59 32 frequent (33%) Frequent (79-30%) HP:0200034
10 hypoplastic fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001804
11 ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000602
12 fatigable weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003473
13 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037
14 oculomotor nerve palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0012246
15 muscle flaccidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0010547
16 echolalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010529
17 dermal atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0004334
18 mutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002300
19 carious teeth 32 HP:0000670
20 short stature 32 HP:0004322
21 anemia 32 HP:0001903
22 nail dystrophy 32 HP:0008404
23 abnormal blistering of the skin 32 HP:0008066
24 ophthalmoparesis 59 Very frequent (99-80%)
25 keratitis 32 HP:0000491
26 aplasia/hypoplasia of the skin 59 Frequent (79-30%)
27 nail dysplasia 32 HP:0002164
28 muscular dystrophy 32 HP:0003560
29 increased connective tissue 32 HP:0009025
30 neonatal respiratory distress 32 HP:0002643
31 palmoplantar hyperkeratosis 32 HP:0000972
32 hypoplasia of dental enamel 32 HP:0006297
33 milia 32 HP:0001056
34 urethral stricture 32 HP:0012227
35 scarring alopecia of scalp 32 HP:0004552
36 punctate keratitis 32 HP:0011859

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 CKM MFN2 PLEC SYNC SYNM VCL
2 muscle MP:0005369 9.17 AHSG CKM MFN2 PLEC SYNC SYNM

Drugs & Therapeutics for Epidermolysis Bullosa Simplex with Muscular Dystrophy

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

Cochrane evidence based reviews: muscular dystrophies, limb-girdle

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:

41
Skin, Eye, Tongue

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 1712)
# 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.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_201378.3(PLEC): c.11920dupG (p.Glu3974Glyfs) duplication Pathogenic rs864309674 GRCh37 Chromosome 8, 144992027: 144992027
10 PLEC NM_201378.3(PLEC): c.11920dupG (p.Glu3974Glyfs) 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.83 DST PLEC SYNM

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 9.72 COL17A1 DST PLEC SYNM VCL
2 intermediate filament GO:0005882 9.56 DST PLEC SYNC SYNM
3 sarcolemma GO:0042383 9.46 PLEC SYNC SYNM VCL
4 brush border GO:0005903 9.37 PLEC VCL
5 costamere GO:0043034 9.13 PLEC SYNM VCL
6 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 intermediate filament cytoskeleton organization GO:0045104 9.13 DST PLEC SYNM
2 hemidesmosome assembly GO:0031581 8.8 COL17A1 DST 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 actin binding GO:0003779 9.33 DST PLEC VCL
2 structural constituent of muscle GO:0008307 8.96 PLEC SYNM
3 structural molecule activity GO:0005198 8.92 DST PLEC SYNC VCL

Sources for Epidermolysis 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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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