MDEBS
MCID: EPD027
MIFTS: 23

Epidermolysa Bullosa Simplex with Muscular Dystrophy (MDEBS)

Categories: Rare diseases

Aliases & Classifications for Epidermolysa Bullosa Simplex with Muscular Dystrophy

MalaCards integrated aliases for Epidermolysa Bullosa Simplex with Muscular Dystrophy:

Name: Epidermolysa Bullosa Simplex with Muscular Dystrophy 20
Epidermolysa Bullosa Simplex and Limb Girdle Muscular Dystrophy 20 6 70
Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy 20
Epidermolysa Bullosa Simplex, with Muscular Dystrophy 39
Md-Ebs 20
Ebs-Md 20
Mdebs 20

Classifications:



External Ids:

UMLS 70 C2931072

Summaries for Epidermolysa Bullosa Simplex with Muscular Dystrophy

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 257 Definition Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy. Epidemiology Prevalence is unknown, but more than 40 cases have been reported to date. Clinical description Onset of blistering is usually as early as birth, whereas muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present, including enamel hypoplasia with premature tooth decay, blistering in the oral cavity, pharynx and, rarely, larynx and trachea with inspiratory stridor and breathing difficulties requiring tracheotomy. Slowly progressive weakness of the head and limb muscles appears between the first year and the fourth decade of life and may confine the patient to a wheelchair. Additional neurological symptoms ( ptosis, oculobulbar muscle weakness and fatigability) indicative of a myasthenic syndrome have been described in some patients. Etiology EBS-MD is caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Genetic counseling Transmission is autosomal recessive. Prognosis From a prognostic point of view, immunohistochemical recognition of EBS-MD in infancy is particularly important, since in some patients the associated muscular dystrophy may not become apparent until later in childhood or adulthood. EBS-MD may have a fatal outcome.

MalaCards based summary : Epidermolysa Bullosa Simplex with Muscular Dystrophy, also known as epidermolysa bullosa simplex and limb girdle muscular dystrophy, is related to epidermolysis bullosa simplex with muscular dystrophy and epidermolysis bullosa simplex with pyloric atresia. An important gene associated with Epidermolysa Bullosa Simplex with Muscular Dystrophy is PLEC (Plectin). The drugs Cytarabine and Aclarubicin have been mentioned in the context of this disorder. Affiliated tissues include trachea.

Related Diseases for Epidermolysa Bullosa Simplex with Muscular Dystrophy

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

# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex with muscular dystrophy 11.5
2 epidermolysis bullosa simplex with pyloric atresia 11.2

Symptoms & Phenotypes for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Drugs & Therapeutics for Epidermolysa Bullosa Simplex with Muscular Dystrophy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
2
Aclarubicin Investigational Phase 2, Phase 3 57576-44-0 451415
3 Antimetabolites Phase 2, Phase 3
4
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
5
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 Safety and Efficacy of Allogenic NK Cell Transfusion Combined With Azacitidine Therapy for the MDS-EB Not yet recruiting NCT04599426 Phase 1, Phase 2

Search NIH Clinical Center for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Genetic Tests for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Anatomical Context for Epidermolysa Bullosa Simplex with Muscular Dystrophy

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

40
Trachea

Publications for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Articles related to Epidermolysa Bullosa Simplex with Muscular Dystrophy:

(show all 15)
# Title Authors PMID Year
1
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. 6 61
8698233 1996
2
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 6
23289980 2013
3
Myasthenic syndrome caused by plectinopathy. 6
21263134 2011
4
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. 6
20665883 2010
5
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 6
19945614 2010
6
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 6
15654962 2005
7
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 6
10652002 2000
8
Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. 6
10446808 1999
9
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. 6
8894687 1996
10
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. 6
8830774 1996
11
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. 6
8696340 1996
12
Binding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament binding. 61
10525545 1999
13
Human keratin diseases: hereditary fragility of specific epithelial tissues. 61
9028791 1996
14
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. 61
8941634 1996
15
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. 61
8636409 1996

Variations for Epidermolysa Bullosa Simplex with Muscular Dystrophy

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

6 (show top 50) (show all 2082)
# 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.6874C>T (p.Arg2292Ter) SNV Pathogenic 30174 rs387906802 GRCh37: 8:144997223-144997223
GRCh38: 8:143923055-143923055
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.11962dup (p.Glu3988fs) Duplication Pathogenic 30172 rs864309674 GRCh37: 8:144992026-144992027
GRCh38: 8:143917858-143917859
6 PLEC NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs) Deletion Pathogenic 538947 rs1554689309 GRCh37: 8:144996482-144996485
GRCh38: 8:143922314-143922317
7 PLEC NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) Duplication Pathogenic 840189 GRCh37: 8:144995904-144995905
GRCh38: 8:143921736-143921737
8 PLEC NM_201384.3(PLEC):c.826-1G>T SNV Pathogenic 1033032 GRCh37: 8:145009098-145009098
GRCh38: 8:143934930-143934930
9 PLEC NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) Microsatellite Pathogenic 8259 rs786205252 GRCh37: 8:145004320-145004328
GRCh38: 8:143930152-143930160
10 PLEC NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs) Microsatellite Pathogenic 8261 rs786205254 GRCh37: 8:144999066-144999073
GRCh38: 8:143924898-143924905
11 PLEC NM_000445.5(PLEC):c.194-5086G>A SNV Pathogenic 448047 rs372851346 GRCh37: 8:145017946-145017946
GRCh38: 8:143943778-143943778
12 PLEC NC_000008.10:g.(?_145008783)_(145018851_?)dup Duplication Likely pathogenic 658433 GRCh37: 8:145008783-145018851
GRCh38: 8:143934615-143944683
13 PLEC NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) Indel Likely pathogenic 499702 rs1554683108 GRCh37: 8:144994988-144994989
GRCh38: 8:143920820-143920821
14 PLEC NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter) SNV Likely pathogenic 538961 rs1554675388 GRCh37: 8:144992639-144992639
GRCh38: 8:143918471-143918471
15 PLEC NM_201384.3(PLEC):c.3261-1G>A SNV Likely pathogenic 577780 rs111730406 GRCh37: 8:145002161-145002161
GRCh38: 8:143927993-143927993
16 PLEC NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) SNV Likely pathogenic 417887 rs1060499581 GRCh37: 8:145008595-145008595
GRCh38: 8:143934427-143934427
17 PLEC NM_201384.3(PLEC):c.11926G>A (p.Val3976Ile) SNV Uncertain significance 471525 rs782422260 GRCh37: 8:144992063-144992063
GRCh38: 8:143917895-143917895
18 PLEC NM_201384.3(PLEC):c.7313G>A (p.Arg2438Gln) SNV Uncertain significance 471642 rs781835780 GRCh37: 8:144996784-144996784
GRCh38: 8:143922616-143922616
19 PLEC NM_201384.3(PLEC):c.4682G>A (p.Arg1561Gln) SNV Uncertain significance 289464 rs376840697 GRCh37: 8:144999415-144999415
GRCh38: 8:143925247-143925247
20 PLEC NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) SNV Uncertain significance 196720 rs782581787 GRCh37: 8:144998707-144998707
GRCh38: 8:143924539-143924539
21 PLEC NM_201384.3(PLEC):c.9874G>A (p.Val3292Met) SNV Uncertain significance 471680 rs782650325 GRCh37: 8:144994115-144994115
GRCh38: 8:143919947-143919947
22 PLEC NM_201384.3(PLEC):c.10322C>T (p.Ser3441Leu) SNV Uncertain significance 471514 rs782569204 GRCh37: 8:144993667-144993667
GRCh38: 8:143919499-143919499
23 PLEC NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln) SNV Uncertain significance 478626 rs375724891 GRCh37: 8:144993859-144993859
GRCh38: 8:143919691-143919691
24 PLEC NM_201384.3(PLEC):c.1721G>A (p.Arg574Gln) SNV Uncertain significance 471547 rs782426860 GRCh37: 8:145006977-145006977
GRCh38: 8:143932809-143932809
25 PLEC NM_201384.3(PLEC):c.5414G>A (p.Arg1805His) SNV Uncertain significance 283241 rs782438887 GRCh37: 8:144998683-144998683
GRCh38: 8:143924515-143924515
26 PLEC NM_201384.3(PLEC):c.3010G>A (p.Val1004Met) SNV Uncertain significance 282466 rs201782280 GRCh37: 8:145003653-145003653
GRCh38: 8:143929485-143929485
27 PLEC NM_201384.3(PLEC):c.4499G>A (p.Arg1500Gln) SNV Uncertain significance 471590 rs782344020 GRCh37: 8:144999598-144999598
GRCh38: 8:143925430-143925430
28 PLEC NM_201384.3(PLEC):c.13525A>G (p.Thr4509Ala) SNV Uncertain significance 471545 rs1554668550 GRCh37: 8:144990464-144990464
GRCh38: 8:143916296-143916296
29 PLEC NM_201384.3(PLEC):c.12907G>A (p.Val4303Met) SNV Uncertain significance 478589 rs200668859 GRCh37: 8:144991082-144991082
GRCh38: 8:143916914-143916914
30 PLEC NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) SNV Uncertain significance 196847 rs368212208 GRCh37: 8:144991318-144991318
GRCh38: 8:143917150-143917150
31 PLEC NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn) SNV Uncertain significance 471559 rs199833127 GRCh37: 8:145004139-145004139
GRCh38: 8:143929971-143929971
32 PLEC NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys) SNV Uncertain significance 282493 rs782026068 GRCh37: 8:144999242-144999242
GRCh38: 8:143925074-143925074
33 PLEC NM_201384.3(PLEC):c.12401C>T (p.Ser4134Phe) SNV Uncertain significance 471530 rs782074353 GRCh37: 8:144991588-144991588
GRCh38: 8:143917420-143917420
34 PLEC NM_201384.3(PLEC):c.4771C>G (p.Gln1591Glu) SNV Uncertain significance 471595 rs782016001 GRCh37: 8:144999326-144999326
GRCh38: 8:143925158-143925158
35 PLEC NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys) SNV Uncertain significance 471671 rs201455467 GRCh37: 8:144994742-144994742
GRCh38: 8:143920574-143920574
36 PLEC NM_201384.3(PLEC):c.8371G>A (p.Ala2791Thr) SNV Uncertain significance 471661 rs529109624 GRCh37: 8:144995618-144995618
GRCh38: 8:143921450-143921450
37 PLEC NM_201384.3(PLEC):c.10744G>A (p.Gly3582Ser) SNV Uncertain significance 196813 rs202010719 GRCh37: 8:144993245-144993245
GRCh38: 8:143919077-143919077
38 PLEC NM_201384.3(PLEC):c.9632C>T (p.Pro3211Leu) SNV Uncertain significance 471675 rs781793644 GRCh37: 8:144994357-144994357
GRCh38: 8:143920189-143920189
39 PLEC NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys) SNV Uncertain significance 471645 rs200652637 GRCh37: 8:144996728-144996728
GRCh38: 8:143922560-143922560
40 PLEC NM_201384.3(PLEC):c.3896C>T (p.Pro1299Leu) SNV Uncertain significance 290651 rs201955391 GRCh37: 8:145001194-145001194
GRCh38: 8:143927026-143927026
41 PLEC NM_201384.3(PLEC):c.5879G>A (p.Arg1960His) SNV Uncertain significance 471617 rs367679924 GRCh37: 8:144998218-144998218
GRCh38: 8:143924050-143924050
42 PLEC NM_201384.3(PLEC):c.12691G>A (p.Glu4231Lys) SNV Uncertain significance 471536 rs782341944 GRCh37: 8:144991298-144991298
GRCh38: 8:143917130-143917130
43 PLEC NM_201384.3(PLEC):c.682C>T (p.Arg228Trp) SNV Uncertain significance 451958 rs200249446 GRCh37: 8:145009402-145009402
GRCh38: 8:143935234-143935234
44 PLEC NM_201384.3(PLEC):c.3356C>T (p.Pro1119Leu) SNV Uncertain significance 471574 rs782567448 GRCh37: 8:145002065-145002065
GRCh38: 8:143927897-143927897
45 PLEC NM_201384.3(PLEC):c.4997AGG[2] (p.Glu1668del) Microsatellite Uncertain significance 471598 rs782362153 GRCh37: 8:144999092-144999094
GRCh38: 8:143924924-143924926
46 PLEC NM_201384.3(PLEC):c.4027C>T (p.Arg1343Cys) SNV Uncertain significance 471585 rs376359597 GRCh37: 8:145000969-145000969
GRCh38: 8:143926801-143926801
47 PLEC NM_201384.3(PLEC):c.3344C>T (p.Ala1115Val) SNV Uncertain significance 471573 rs376082569 GRCh37: 8:145002077-145002077
GRCh38: 8:143927909-143927909
48 PLEC NM_201384.3(PLEC):c.8120A>G (p.Asn2707Ser) SNV Uncertain significance 471657 rs782802158 GRCh37: 8:144995869-144995869
GRCh38: 8:143921701-143921701
49 PLEC NM_201384.3(PLEC):c.12406G>C (p.Val4136Leu) SNV Uncertain significance 478627 rs749212061 GRCh37: 8:144991583-144991583
GRCh38: 8:143917415-143917415
50 PLEC NM_201384.3(PLEC):c.8062G>A (p.Val2688Met) SNV Uncertain significance 471656 rs562229143 GRCh37: 8:144995927-144995927
GRCh38: 8:143921759-143921759

Expression for Epidermolysa Bullosa Simplex with Muscular Dystrophy

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GO Terms for Epidermolysa Bullosa Simplex with Muscular Dystrophy

Sources for Epidermolysa Bullosa Simplex with Muscular Dystrophy

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