EBSMD
MCID: EPD050
MIFTS: 57

Epidermolysis Bullosa Simplex with Muscular Dystrophy (EBSMD)

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 58 29 6 15
Epidermolysis Bullosa Simplex and Limb-Girdle Muscular Dystrophy 57 12 72
Md-Ebs 57 72 54
Limb-Girdle Muscular Dystrophy with Epidermolysis Bullosa Simplex 12 58
Epidermolysa Bullosa Simplex and Limb Girdle Muscular Dystrophy 70
Epidermolysis Bullosa Simplex, with Muscular Dystrophy 72
Muscular Dystrophy with Epidermolysis Bullosa Simplex 13
Muscular Dystrophies, Limb-Girdle 44
Ebs with Muscular Dystrophy 58
Md-Ebs; Mdebs 57
Ebs-Md 58
Ebsmd 57
Mdebs 57

Characteristics:

Orphanet epidemiological data:

58
epidermolysis bullosa simplex with muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable survival (some neonatal lethality)


HPO:

31
epidermolysis bullosa simplex with muscular dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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) (Updated 05-Apr-2021)

MalaCards based summary : Epidermolysis Bullosa Simplex with Muscular Dystrophy, also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy, is related to limb-girdle muscular dystrophy and epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa Simplex with Muscular Dystrophy is PLEC (Plectin), and among its related pathways/superpathways are Degradation of the extracellular matrix and Cell junction organization. The drugs Lisinopril and Deflazacort have been mentioned in the context of this disorder. Affiliated tissues include eye, myeloid and skeletal muscle, and related phenotypes are dysphasia and myopathy

Disease Ontology : 12 An syndrome 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 : 72 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 87)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 31.4 TTN-AS1 TTN TRIM32 TRAPPC11 PLEC FKRP
2 epidermolysis bullosa 31.1 PLEC LAMA3 DST COL17A1
3 epidermolysis bullosa simplex 31.1 PLEC LAMA3 DST COL17A1
4 pyloric atresia 30.7 PLEC COL17A1
5 atrial standstill 1 30.5 TTN-AS1 TTN FKRP
6 skin disease 30.2 PLEC LAMA3 DST COL17A1
7 junctional epidermolysis bullosa 30.2 PLEC LAMA3 DST COL17A1
8 dilated cardiomyopathy 29.3 TTN-AS1 TTN SYNM PLEC FKRP CKM
9 muscular dystrophy 29.3 UTRN TTN-AS1 TTN TRIM32 TRAPPC11 SYNC
10 myopathy 28.1 UTRN TTN-AS1 TTN TRIM32 TRAPPC11 SYNM
11 epidermolysa bullosa simplex with muscular dystrophy 11.5
12 epidermolysis bullosa simplex with pyloric atresia 11.2
13 autosomal recessive disease 10.5
14 epidermolysis bullosa with pyloric atresia 10.5
15 diffuse alopecia areata 10.4
16 ptosis 10.4
17 alopecia 10.4
18 autosomal recessive limb-girdle muscular dystrophy type 2w 10.3 TRAPPC11 BVES
19 autosomal recessive limb-girdle muscular dystrophy type 2h 10.3 TRIM32 FKRP
20 autosomal recessive limb-girdle muscular dystrophy type 2j 10.3 TTN FKRP
21 scoliosis 10.3
22 muscular dystrophy-dystroglycanopathy , type c, 7 10.3 TRAPPC11 FKRP
23 autosomal recessive limb-girdle muscular dystrophy type 2g 10.3 TTN FKRP
24 epithelial basement membrane dystrophy 10.3 SYNC PLEC
25 muscular dystrophy-dystroglycanopathy , type c, 4 10.2 TRAPPC11 FKRP
26 left ventricular noncompaction 2 10.2 TTN-AS1 TTN
27 autosomal recessive limb-girdle muscular dystrophy type 2a 10.2 TTN FKRP
28 autosomal dominant distal myopathy 10.2 TTN-AS1 TTN
29 myopathy, myofibrillar, 2 10.2 SYNC PLEC
30 multiminicore disease 10.2 TTN-AS1 TTN
31 salih myopathy 10.2 TTN-AS1 TTN
32 third-degree atrioventricular block 10.2 TTN-AS1 TTN
33 emery-dreifuss muscular dystrophy 10.2 TTN PLEC FKRP
34 limb-girdle muscular dystrophy type 1a 10.2 TTN TRIM32 FKRP
35 muscular dystrophy, limb-girdle, autosomal recessive 7 10.1 TTN TRIM32 FKRP
36 muscular dystrophy, limb-girdle, autosomal recessive 4 10.1 TTN TRIM32 FKRP
37 muscular dystrophy, limb-girdle, autosomal recessive 6 10.1 TTN TRIM32 FKRP
38 autosomal recessive limb-girdle muscular dystrophy type 2q 10.1 TRAPPC11 SYNC PLEC
39 muscular dystrophy-dystroglycanopathy , type c, 5 10.1 TTN TRIM32 FKRP
40 arrhythmogenic right ventricular dysplasia, familial, 1 10.1 TTN-AS1 TTN PLEC
41 epithelial and subepithelial dystrophy 10.1 PLEC COL17A1
42 epidermolysis bullosa simplex, generalized 10.1 PLEC COL17A1
43 cardiomyopathy, familial hypertrophic, 9 10.1 TTN-AS1 TTN
44 tibial muscular dystrophy 10.1 TTN-AS1 TTN FKRP
45 pemphigoid 10.1 DST COL17A1
46 myopathy, myofibrillar, 5 10.1 TTN SYNC PLEC
47 lichen planus pemphigoides 10.1 DST COL17A1
48 creatine phosphokinase, elevated serum 10.1 TRIM32 ASTN2
49 neurotic excoriation 10.1 DST COL17A1
50 linear iga disease 10.1 DST COL17A1

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:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
2 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
3 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
4 hyperconvex fingernails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001812
5 ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000602
6 hypoplastic fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001804
7 skin vesicle 58 31 hallmark (90%) Very frequent (99-80%) HP:0200037
8 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
9 muscle flaccidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0010547
10 oculomotor nerve palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0012246
11 echolalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010529
12 mutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002300
13 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
14 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
15 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
16 dermal atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0004334
17 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
18 fatigable weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003473
19 carious teeth 31 HP:0000670
20 short stature 31 HP:0004322
21 anemia 31 HP:0001903
22 neonatal respiratory distress 31 HP:0002643
23 aplasia/hypoplasia of the skin 58 Frequent (79-30%)
24 keratitis 31 HP:0000491
25 ophthalmoparesis 58 Very frequent (99-80%)
26 nail dysplasia 31 HP:0002164
27 muscular dystrophy 31 HP:0003560
28 abnormal blistering of the skin 31 HP:0008066
29 nail dystrophy 31 HP:0008404
30 milia 31 HP:0001056
31 palmoplantar hyperkeratosis 31 HP:0000972
32 hypoplasia of dental enamel 31 HP:0006297
33 urethral stricture 31 HP:0012227
34 scarring alopecia of scalp 31 HP:0004552
35 increased connective tissue 31 HP:0009025
36 punctate keratitis 31 HP:0011859

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 BVES CKM FKRP PLEC SYNC SYNM

Drugs & Therapeutics for Epidermolysis Bullosa Simplex with Muscular Dystrophy

Drugs for Epidermolysis Bullosa Simplex with Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
2
Deflazacort Approved, Investigational Phase 3 14484-47-0
3
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
4
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
5
Aclarubicin Investigational Phase 2, Phase 3 57576-44-0 451415
6 Cardiotonic Agents Phase 2, Phase 3
7 Nutrients Phase 2, Phase 3
8 Micronutrients Phase 2, Phase 3
9 Trace Elements Phase 2, Phase 3
10 Protective Agents Phase 2, Phase 3
11 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
12 Antihypertensive Agents Phase 2, Phase 3
13 Vitamins Phase 2, Phase 3
14 Ubiquinone Phase 2, Phase 3
15
protease inhibitors Phase 2, Phase 3
16 HIV Protease Inhibitors Phase 2, Phase 3
17 Immunologic Factors Phase 3
18 Immunosuppressive Agents Phase 3
19 Anti-Inflammatory Agents Phase 2, Phase 3
20 Antimetabolites Phase 2, Phase 3
21
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
22
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
23
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
24
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
25
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
26
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
27
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
28
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
29
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
30 Methylprednisolone Acetate Phase 2
31 Hormone Antagonists Phase 2
32 glucocorticoids Phase 2
33 Hormones Phase 2
34 Antineoplastic Agents, Hormonal Phase 2
35 Pharmaceutical Solutions

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
2 A Multicenter Open Label Study on the Safety and Efficacy of Deflazacort (Emflaza®) in Subjects With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Completed NCT03783923 Phase 3 Deflazacort
3 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
4 The Feasibility of a Bridging Treatment With Low-dose Azacitidine (AZA) in Combination With Short Term CAG Derived Regimen Prior to Allogeneic Stem Cell Transplantation (Allo-HSCT) in Patients With Advanced Myelodysplastic Syndromes (MDS) Recruiting NCT04216355 Phase 2, Phase 3 Azacitidine;CAG Protocol
5 An Open-Label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophy Completed NCT02836418 Phase 1, Phase 2 ATYR1940
6 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
7 Phase I/IIa Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Completed NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
8 An Open-Label, Intrapatient Dose Escalation Study to Evaluate the Safety, Tolerability, Immunogenicity, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
9 A Phase II Study With a Safety Run-in Phase Evaluating Vosaroxin With Azacitidine in Older Patients With Newly Diagnosed Acute Myeloid Leukemia and Intermediate/Adverse Genetic Risk or Myelodysplastic Syndrome With Excess Blasts-2 (MDS-EB-2) - AMLSG 24-15 Completed NCT03338348 Phase 2 Vosaroxin;Azacitidine
10 A Single-Center, Open-Label, Systemic Gene Delivery Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9003 Administered by Systemic Infusion in Subjects With LGMD2E (β-Sarcoglycan Deficiency). Active, not recruiting NCT03652259 Phase 1, Phase 2
11 Open Label Safety and Efficacy of Once Weekly Steroid in Patients With LGMD and Becker Muscular Dystrophy Active, not recruiting NCT04054375 Phase 2 Prednisone
12 Safety and Efficacy of Allogenic NK Cell Transfusion Combined With Azacitidine Therapy for the MDS-EB Not yet recruiting NCT04599426 Phase 1, Phase 2
13 Phase I Gene Transfer of rAAV1.tMCK.Human-alpha-sarcoglycan for Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
14 Phase I Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
15 Safety and Feasibility of Transvenous Limb Perfusion With Normal Saline in Human Muscular Dystrophy Completed NCT00873782 Phase 1
16 Intrathecal Autologous Mononuclear Cell Therapy for Limb Girdle Muscular Dystrophy Withdrawn NCT02245711 Phase 1
17 The Role of Cell Therapy in Modifying the Course of Limb Girdle Muscular Dystrophy- A Longitudinal 5-year Study Withdrawn NCT02050776 Phase 1
18 International Clinical Outcome Study for Dysferlinopathy Unknown status NCT01676077
19 Longitudinal Assessment and Genetic Understanding of Limb-Girdle Muscular Dystrophy Completed NCT01783509
20 Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy Completed NCT00457912
21 USEFUL: User-centred Assistive SystEm for Arm Functions in neUromuscuLar Subjects Completed NCT03127241
22 PITT0110 - Cardiac Magnetic Resonance: A Parallel Protocol to Cardiac Outcome Measures in Children With Muscular Dystrophy Completed NCT01081080
23 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
24 PITT1109: Cardiac Outcome Measures in Children With Muscular Dystrophy Completed NCT01066455
25 Muscle MRI Study of Patients With Becker Muscular Dystrophy and Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
26 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
27 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
28 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I Recruiting NCT03842878
29 Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members Recruiting NCT00390104
30 Limb-Girdle Muscular Dystrophy Type 2I in Norway - a Cohort Study Recruiting NCT03930628
31 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Recruiting NCT03492346
32 Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E Recruiting NCT03488784
33 Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5) Recruiting NCT04475926
34 The Global FKRP Patient Registry Recruiting NCT04001595
35 GRASP LGMD Defining Clinical Endpoints in LGMD Enrolling by invitation NCT03981289
36 Biomarker Development in LGMD 2i Enrolling by invitation NCT04202627
37 Evaluation of Clinical, Immunological, Morphological, Molecular and Genetic Characteristics of Patients With Limb-girdle Muscular Dystrophy Type R2 (Type 2B) in the Russian Federation Enrolling by invitation NCT04824040
38 Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases Enrolling by invitation NCT04349566
39 Characterization and Identification of Motor Parameters Using Instrumental Assessment in Patients With Limb Girdle Muscular Dystrophy Not yet recruiting NCT04772027

Search 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

Genetic tests related to Epidermolysis Bullosa Simplex with Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex with Muscular Dystrophy 29 PLEC

Anatomical Context for Epidermolysis Bullosa Simplex with Muscular Dystrophy

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

40
Eye, Myeloid, Skeletal Muscle, Skin, Heart, Liver

Publications for Epidermolysis Bullosa Simplex with Muscular Dystrophy

Articles related to Epidermolysis Bullosa Simplex with Muscular Dystrophy:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. 54 57 6
8894687 1996
2
Myasthenic syndrome caused by plectinopathy. 57 6
21263134 2011
3
Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. 6 57
10446808 1999
4
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. 57 6
8696340 1996
5
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. 54 61 57
8636409 1996
6
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. 57 61
20016501 2010
7
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. 61 57
12071635 2002
8
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 54 6
10652002 2000
9
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. 61 6
8698233 1996
10
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES. 6
31119192 2019
11
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. 6
27707803 2017
12
An irish case of limb-girdle muscular dystrophy 2I with structural eye involvement. 6
26833294 2016
13
A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans. 6
26574668 2015
14
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations. 6
26363967 2015
15
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. 6
25560911 2015
16
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. 6
26322222 2015
17
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery. 6
25048216 2014
18
Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I. 6
24447024 2014
19
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I. 6
23576288 2013
20
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes. 6
23591631 2013
21
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 6
23289980 2013
22
Cortical heterotopia in LGMD2I. 6
22264518 2012
23
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
24
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. 6
20665883 2010
25
Mutations alter secretion of fukutin-related protein. 6
19900540 2010
26
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. 6
19820980 2010
27
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 6
19945614 2010
28
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. 6
19835634 2009
29
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 57
18374450 2008
30
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo. 6
17554798 2007
31
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments. 6
18593008 2006
32
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 57
16473856 2006
33
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. 6
16634037 2006
34
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. 6
15833432 2005
35
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. 6
15574464 2005
36
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 6
15654962 2005
37
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. 6
15580560 2005
38
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. 6
15060126 2004
39
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 6
12666124 2003
40
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. 6
11741828 2001
41
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. 57
10827412 2000
42
Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature. 57
10570379 1999
43
Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. 57
9358473 1997
44
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. 6
8830774 1996
45
Autosomal recessive epidermolysis bullosa simplex. A case report. 57
8305300 1994
46
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. 57
8307068 1993
47
Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes. 57
1541639 1992
48
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. 57
1999509 1991
49
Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases. 57
2662909 1989
50
Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance. 57
3355199 1988

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 2015)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLEC NM_201384.3(PLEC):c.5775_5782dup (p.Leu1928fs) Duplication Pathogenic 8258 rs786205251 GRCh37: 8:144998314-144998315
GRCh38: 8:143924146-143924147
2 PLEC NM_201384.3(PLEC):c.5734del (p.Leu1912fs) Deletion Pathogenic 8260 rs786205253 GRCh37: 8:144998363-144998363
GRCh38: 8:143924195-143924195
3 PLEC NM_201384.3(PLEC):c.11962dup (p.Glu3988fs) Duplication Pathogenic 30172 rs864309674 GRCh37: 8:144992026-144992027
GRCh38: 8:143917858-143917859
4 PLEC NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter) SNV Pathogenic 30173 rs387906801 GRCh37: 8:144998009-144998009
GRCh38: 8:143923841-143923841
5 PLEC NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs) Deletion Pathogenic 538947 rs1554689309 GRCh37: 8:144996482-144996485
GRCh38: 8:143922314-143922317
6 PLEC NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) Duplication Pathogenic 840189 GRCh37: 8:144995904-144995905
GRCh38: 8:143921736-143921737
7 PLEC NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter) SNV Pathogenic 30174 rs387906802 GRCh37: 8:144997223-144997223
GRCh38: 8:143923055-143923055
8 PLEC NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) Microsatellite Pathogenic 8259 rs786205252 GRCh37: 8:145004320-145004328
GRCh38: 8:143930152-143930160
9 PLEC NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs) Microsatellite Pathogenic 8261 rs786205254 GRCh37: 8:144999066-144999073
GRCh38: 8:143924898-143924905
10 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 GRCh37: 19:47259533-47259533
GRCh38: 19:46756276-46756276
11 PLEC NM_201384.3(PLEC):c.826-1G>T SNV Pathogenic 1033032 GRCh37: 8:145009098-145009098
GRCh38: 8:143934930-143934930
12 PLEC NM_000445.5(PLEC):c.194-5086G>A SNV Pathogenic 448047 rs372851346 GRCh37: 8:145017946-145017946
GRCh38: 8:143943778-143943778
13 TTN-AS1 , TTN NM_001267550.2(TTN):c.103360del (p.Glu34454fs) Deletion Likely pathogenic 374145 rs760768093 GRCh37: 2:179397982-179397982
GRCh38: 2:178533255-178533255
14 BVES NM_001199563.2(BVES):c.262C>T (p.Arg88Ter) SNV Likely pathogenic 626314 rs796206315 GRCh37: 6:105577343-105577343
GRCh38: 6:105129468-105129468
15 TTN-AS1 , TTN NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) SNV Likely pathogenic 202529 rs757082154 GRCh37: 2:179392218-179392218
GRCh38: 2:178527491-178527491
16 TTN-AS1 , TTN NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) SNV Likely pathogenic 47008 rs72677232 GRCh37: 2:179482937-179482937
GRCh38: 2:178618210-178618210
17 TRAPPC11 NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) SNV Likely pathogenic 474342 rs140403642 GRCh37: 4:184603963-184603963
GRCh38: 4:183682810-183682810
18 PLEC NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter) SNV Likely pathogenic 538961 rs1554675388 GRCh37: 8:144992639-144992639
GRCh38: 8:143918471-143918471
19 PLEC NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) SNV Likely pathogenic 417887 rs1060499581 GRCh37: 8:145008595-145008595
GRCh38: 8:143934427-143934427
20 ASTN2 , TRIM32 NM_001365068.1(ASTN2):c.2806+27338del Deletion Likely pathogenic 498076 rs747685252 GRCh37: 9:119460712-119460712
GRCh38: 9:116698433-116698433
21 PLEC NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) Indel Likely pathogenic 499702 rs1554683108 GRCh37: 8:144994988-144994989
GRCh38: 8:143920820-143920821
22 PLEC NM_201384.3(PLEC):c.3261-1G>A SNV Likely pathogenic 577780 rs111730406 GRCh37: 8:145002161-145002161
GRCh38: 8:143927993-143927993
23 PLEC NC_000008.10:g.(?_145008783)_(145018851_?)dup Duplication Likely pathogenic 658433 GRCh37: 8:145008783-145018851
GRCh38: 8:143934615-143944683
24 PLEC NM_201384.3(PLEC):c.11605G>A (p.Gly3869Ser) SNV Uncertain significance 658777 rs782123116 GRCh37: 8:144992384-144992384
GRCh38: 8:143918216-143918216
25 PLEC NM_201384.3(PLEC):c.5727G>T (p.Gln1909His) SNV Uncertain significance 658853 rs1586904636 GRCh37: 8:144998370-144998370
GRCh38: 8:143924202-143924202
26 PLEC NM_201384.3(PLEC):c.6662G>A (p.Arg2221His) SNV Uncertain significance 658904 rs782458946 GRCh37: 8:144997435-144997435
GRCh38: 8:143923267-143923267
27 PLEC NM_201384.3(PLEC):c.13201G>A (p.Asp4401Asn) SNV Uncertain significance 497165 rs782439392 GRCh37: 8:144990788-144990788
GRCh38: 8:143916620-143916620
28 PLEC NM_201384.3(PLEC):c.9420G>A (p.Thr3140=) SNV Uncertain significance 659241 rs782338798 GRCh37: 8:144994569-144994569
GRCh38: 8:143920401-143920401
29 PLEC NM_201384.3(PLEC):c.13498G>A (p.Gly4500Ser) SNV Uncertain significance 659257 rs567240737 GRCh37: 8:144990491-144990491
GRCh38: 8:143916323-143916323
30 PLEC NM_201384.3(PLEC):c.5863G>A (p.Ala1955Thr) SNV Uncertain significance 597551 rs200374705 GRCh37: 8:144998234-144998234
GRCh38: 8:143924066-143924066
31 PLEC NM_201384.3(PLEC):c.12565G>A (p.Val4189Met) SNV Uncertain significance 597448 rs782787400 GRCh37: 8:144991424-144991424
GRCh38: 8:143917256-143917256
32 PLEC NM_201384.3(PLEC):c.3970A>C (p.Ser1324Arg) SNV Uncertain significance 448066 rs782377096 GRCh37: 8:145001026-145001026
GRCh38: 8:143926858-143926858
33 PLEC NM_201384.3(PLEC):c.2613-7C>T SNV Uncertain significance 659532 rs11990994 GRCh37: 8:145004237-145004237
GRCh38: 8:143930069-143930069
34 PLEC NM_201384.3(PLEC):c.13586G>A (p.Arg4529His) SNV Uncertain significance 659544 rs1486410694 GRCh37: 8:144990403-144990403
GRCh38: 8:143916235-143916235
35 PLEC NM_201384.3(PLEC):c.8468G>A (p.Arg2823His) SNV Uncertain significance 659545 rs376887979 GRCh37: 8:144995521-144995521
GRCh38: 8:143921353-143921353
36 PLEC NM_201384.3(PLEC):c.1544C>T (p.Pro515Leu) SNV Uncertain significance 659628 rs782052037 GRCh37: 8:145007154-145007154
GRCh38: 8:143932986-143932986
37 PLEC NM_201384.3(PLEC):c.5798G>A (p.Ser1933Asn) SNV Uncertain significance 659854 rs1288160719 GRCh37: 8:144998299-144998299
GRCh38: 8:143924131-143924131
38 PLEC NM_201384.3(PLEC):c.1864G>T (p.Val622Leu) SNV Uncertain significance 597548 rs1356690324 GRCh37: 8:145006681-145006681
GRCh38: 8:143932513-143932513
39 PLEC NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu) SNV Uncertain significance 500806 rs781985768 GRCh37: 8:144990382-144990382
GRCh38: 8:143916214-143916214
40 PLEC NM_201384.3(PLEC):c.8240G>A (p.Arg2747Gln) SNV Uncertain significance 660805 rs199856296 GRCh37: 8:144995749-144995749
GRCh38: 8:143921581-143921581
41 PLEC NM_201384.3(PLEC):c.4438G>T (p.Ala1480Ser) SNV Uncertain significance 661039 rs781915274 GRCh37: 8:144999659-144999659
GRCh38: 8:143925491-143925491
42 PLEC NM_201384.3(PLEC):c.7952G>A (p.Arg2651Gln) SNV Uncertain significance 661105 rs375411469 GRCh37: 8:144996037-144996037
GRCh38: 8:143921869-143921869
43 PLEC NM_201384.3(PLEC):c.3526C>T (p.Arg1176Cys) SNV Uncertain significance 661253 rs567457709 GRCh37: 8:145001808-145001808
GRCh38: 8:143927640-143927640
44 PLEC NM_201384.3(PLEC):c.5430G>A (p.Ala1810=) SNV Uncertain significance 661355 rs782770412 GRCh37: 8:144998667-144998667
GRCh38: 8:143924499-143924499
45 PLEC NM_201384.3(PLEC):c.1415G>T (p.Arg472Leu) SNV Uncertain significance 661577 rs374962842 GRCh37: 8:145007368-145007368
GRCh38: 8:143933200-143933200
46 PLEC NM_201384.3(PLEC):c.5383C>T (p.Arg1795Trp) SNV Uncertain significance 661579 rs782002901 GRCh37: 8:144998714-144998714
GRCh38: 8:143924546-143924546
47 PLEC NM_201384.3(PLEC):c.5907_5908inv (p.Ala1970Thr) Inversion Uncertain significance 662496 GRCh37: 8:144998189-144998190
GRCh38: 8:143924021-143924022
48 PLEC NM_201384.3(PLEC):c.6797T>C (p.Leu2266Pro) SNV Uncertain significance 662575 rs1586877407 GRCh37: 8:144997300-144997300
GRCh38: 8:143923132-143923132
49 PLEC NM_201384.3(PLEC):c.12443C>T (p.Thr4148Met) SNV Uncertain significance 662724 rs199756948 GRCh37: 8:144991546-144991546
GRCh38: 8:143917378-143917378
50 PLEC NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr) SNV Uncertain significance 593592 rs782767733 GRCh37: 8:144992974-144992974
GRCh38: 8:143918806-143918806

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 9.73 UTRN SYNM PLEC DST COL17A1 BVES
2 Z disc GO:0030018 9.54 TTN SYNC DST
3 basement membrane GO:0005604 9.5 LAMA3 DST COL17A1
4 intermediate filament GO:0005882 9.46 SYNM SYNC PLEC DST
5 costamere GO:0043034 9.4 SYNM PLEC
6 hemidesmosome GO:0030056 9.13 PLEC DST COL17A1
7 sarcolemma GO:0042383 9.1 UTRN SYNM SYNC PLEC FKRP BVES

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 SYNM PLEC DST
2 hemidesmosome assembly GO:0031581 8.92 PLEC LAMA3 DST COL17A1

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.43 UTRN LAMA3 DST
2 structural molecule activity GO:0005198 9.26 PLEC LAMA3 DST BVES
3 vinculin binding GO:0017166 9.16 UTRN SYNM
4 structural constituent of muscle GO:0008307 8.8 TTN SYNM PLEC

Sources for Epidermolysis Bullosa Simplex with Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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