MCID: EPD050
MIFTS: 43

Epidermolysis Bullosa Simplex with Muscular Dystrophy

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Rare diseases, Muscle 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 simplex and epidermolysis bullosa. 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 and eye, and related phenotypes are ptosis and dysphasia

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.

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.

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 69)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex 31.3 COL17A1 DST PLEC
2 epidermolysis bullosa 31.2 COL17A1 DST PLEC
3 junctional epidermolysis bullosa 30.4 COL17A1 DST
4 muscular dystrophy, limb-girdle, type 2a 12.5
5 muscular dystrophy, limb-girdle, type 1e 12.5
6 muscular dystrophy, limb-girdle, type 2b 12.4
7 muscular dystrophy, limb-girdle, type 1f 12.4
8 muscular dystrophy, limb-girdle, type 2g 12.4
9 muscular dystrophy, limb-girdle, type 2j 12.4
10 muscular dystrophy, limb-girdle, type 2l 12.4
11 muscular dystrophy, limb-girdle, type 1h 12.4
12 muscular dystrophy, limb-girdle, type 2q 12.4
13 muscular dystrophy, limb-girdle, type 2r 12.4
14 muscular dystrophy, limb-girdle, type 2w 12.4
15 muscular dystrophy, limb-girdle, type 1a 12.4
16 muscular dystrophy, limb-girdle, type 1b 12.4
17 muscular dystrophy, limb-girdle, type 1c 12.4
18 muscular dystrophy, limb-girdle, type 2d 12.4
19 muscular dystrophy, limb-girdle, type 2x 12.4
20 muscular dystrophy, limb-girdle, type 2c 12.4
21 muscular dystrophy, limb-girdle, type 2h 12.4
22 muscular dystrophy, limb-girdle, type 2f 12.4
23 muscular dystrophy, limb-girdle, type 2z 12.4
24 muscular dystrophy limb girdle type 2a, erb type 12.3
25 limb-girdle muscular dystrophy 12.0
26 muscular dystrophy-dystroglycanopathy , type c, 5 11.6
27 muscular dystrophy-dystroglycanopathy , type c, 1 11.6
28 muscular dystrophy-dystroglycanopathy , type c, 9 11.6
29 muscular dystrophy-dystroglycanopathy , type c, 14 11.6
30 muscular dystrophy-dystroglycanopathy , type c, 7 11.6
31 autosomal recessive limb-girdle muscular dystrophy type 2e 11.6
32 muscular dystrophy-dystroglycanopathy , type c, 4 11.5
33 autosomal dominant limb-girdle muscular dystrophy type 1c 11.5
34 muscular dystrophy-dystroglycanopathy , type c, 3 11.4
35 muscular dystrophy-dystroglycanopathy , type c, 2 11.4
36 autosomal recessive limb-girdle muscular dystrophy 11.4
37 epidermolysa bullosa simplex with muscular dystrophy 11.4
38 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 11.3
39 limb-girdle muscular dystrophy, type 1g 11.3
40 autosomal dominant limb-girdle muscular dystrophy 11.3
41 autosomal recessive limb-girdle muscular dystrophy type 2b 11.3
42 autosomal dominant limb-girdle muscular dystrophy type 1g 11.3
43 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 11.3
44 muscular dystrophy 10.7
45 lichen planus pemphigoides 10.4 COL17A1 DST
46 pemphigoid gestationis 10.4 COL17A1 DST
47 linear iga disease 10.4 COL17A1 DST
48 neurotic excoriation 10.4 COL17A1 DST
49 pyloric atresia 10.4 COL17A1 PLEC
50 alexander disease 10.4 PLEC SYNM

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 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

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 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 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 9.65 COL17A1 DST PLEC SYNM VCL
2 intermediate filament GO:0005882 9.5 DST 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 8.96 DST SYNM
2 hemidesmosome assembly GO:0031581 8.62 COL17A1 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 9.13 DST PLEC VCL
2 structural constituent of muscle GO:0008307 8.62 PLEC SYNM

Sources for Epidermolysis Bullosa Simplex with Muscular Dystrophy

3 CDC
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10 dbSNP
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17 ExPASy
19 FMA
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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