EBS5A
MCID: EPD097
MIFTS: 46

Epidermolysis Bullosa Simplex 5a, Ogna Type (EBS5A)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Epidermolysis Bullosa Simplex 5a, Ogna Type

MalaCards integrated aliases for Epidermolysis Bullosa Simplex 5a, Ogna Type:

Name: Epidermolysis Bullosa Simplex 5a, Ogna Type 57 73
Epidermolysis Bullosa Simplex, Ogna Type 57 19 73 28 12 5 38 71
Epidermolysis Bullosa Simplex Ogna Type 11 14
Ebs-Og 11 19
Ebs5a 57 73
Ebsog 57 11
Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement 58
Plec-Related Intermediate Ebs Without Extracutaneous Involvement 58
Simplex Epidermolysis Bullosa_ogna Type 5
Epidermolysis Bullosa Simplex 1 73
Ebs-O 11
O-Ebs 73
Ebs1 73
Ebso 73

Characteristics:


Inheritance:

Epidermolysis Bullosa Simplex 5a, Ogna Type: Autosomal dominant 57
Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement: Autosomal dominant 58

Prevelance:

Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement: <1/1000000 (Worldwide) 58

Age Of Onset:

Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0060736
OMIM® 57 131950
OMIM Phenotypic Series 57 PS131760
MeSH 43 D016110
ICD10 31 Q81.0
MESH via Orphanet 44 C535962
ICD10 via Orphanet 32 Q81.0
UMLS via Orphanet 72 C0432317
Orphanet 58 ORPHA79401
MedGen 40 C0432317
UMLS 71 C0432317

Summaries for Epidermolysis Bullosa Simplex 5a, Ogna Type

OMIM®: 57 Epidermolysis bullosa simplex, Ogna type (EBS5A) is an autosomal dominant skin disorder characterized by onset at birth of skin blistering, mainly acral but occasionally widespread. The course tends to be mild, with postlesional violaceous and hypopigmented macules (summary by Has et al., 2020). Electron microscopy reveals aberrant ultrastructure of hemidesmosomal attachment plates that is not seen in classic forms of EBS (see, e.g., EBS1A, 131760) caused by mutation in keratin-5 (148040) or -14 (148066) (Koss-Harnes et al., 2002). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760). (131950) (Updated 08-Dec-2022)

MalaCards based summary: Epidermolysis Bullosa Simplex 5a, Ogna Type, also known as epidermolysis bullosa simplex, ogna type, is related to epidermolysis bullosa simplex 1a, generalized severe and epithelial and subepithelial dystrophy. An important gene associated with Epidermolysis Bullosa Simplex 5a, Ogna Type is PLEC (Plectin). Affiliated tissues include skin, bone marrow and heart, and related phenotypes are palmoplantar keratoderma and hypermelanotic macule

UniProtKB/Swiss-Prot: 73 An autosomal dominant form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5A patients manifest generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, EBS5A is differentiated from classical epidermolysis bullosa simplex, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates.

Disease Ontology: 11 An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has material basis in heterozygous mutation in the PLEC1 gene on chromosome 8q24.

GARD: 19 A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.

Orphanet: 58 A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis.

Related Diseases for Epidermolysis Bullosa Simplex 5a, Ogna Type

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex 5a, Ogna Type:



Diseases related to Epidermolysis Bullosa Simplex 5a, Ogna Type

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex 5a, Ogna Type

Human phenotypes related to Epidermolysis Bullosa Simplex 5a, Ogna Type:

58 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000982
2 hypermelanotic macule 58 30 Frequent (33%) Frequent (79-30%)
HP:0001034
3 skin erosion 58 30 Frequent (33%) Frequent (79-30%)
HP:0200041
4 fragile skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0001030
5 palmoplantar blistering 58 30 Frequent (33%) Frequent (79-30%)
HP:0007446
6 hypopigmented macule 58 30 Frequent (33%) Frequent (79-30%)
HP:0020073
7 acral blistering 58 30 Frequent (33%) Frequent (79-30%)
HP:0031045
8 abnormality of the dentition 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000164
9 abnormality of the eye 58 Excluded (0%)
10 bruising susceptibility 30 HP:0000978
11 abnormal blistering of the skin 58 Frequent (79-30%)
12 abnormal heart morphology 58 Excluded (0%)
13 onychogryposis of toenails 30 HP:0008401
14 hypoplastic dermoepidermal hemidesmosomes 30 HP:0020117
15 skin fragility with non-scarring blistering 30 HP:0007585
16 abnormality of the abdominal organs 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Skin:
skin fragility with non-scarring blistering
generalized bruising tendency
small hemorrhagic blisters on hands

Skin Nails Hair Nails:
onychogryphosis of large toenails (occasional)

Skin Nails Hair Skin Electron Microscopy:
blisters originating in basal cells above hemidesmosomes
impaired keratin filament insertion into hemidesmosomes
abnormal hemidesmosome intracellular attachment plates

Clinical features from OMIM®:

131950 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex 5a, Ogna Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 PLEC PREPL SYNC SYNM

Drugs & Therapeutics for Epidermolysis Bullosa Simplex 5a, Ogna Type

Search Clinical Trials, NIH Clinical Center for Epidermolysis Bullosa Simplex 5a, Ogna Type

Genetic Tests for Epidermolysis Bullosa Simplex 5a, Ogna Type

Genetic tests related to Epidermolysis Bullosa Simplex 5a, Ogna Type:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex, Ogna Type 28 PLEC

Anatomical Context for Epidermolysis Bullosa Simplex 5a, Ogna Type

Organs/tissues related to Epidermolysis Bullosa Simplex 5a, Ogna Type:

MalaCards : Skin, Bone Marrow, Heart, Eye, Bone, Prostate, Lung
ODiseA: Blood And Bone Marrow

Publications for Epidermolysis Bullosa Simplex 5a, Ogna Type

Articles related to Epidermolysis Bullosa Simplex 5a, Ogna Type:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. 57 5
32017015 2020
2
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. 57 5
11851880 2002
3
Gpt-EBS1 linkage group. General linkage relations. 62 57
4425507 1974
4
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. 5
29453417 2018
5
A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. 5
29352809 2018
6
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications. 5
28830826 2017
7
Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury. 5
28824526 2017
8
Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement. 5
27813154 2017
9
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
10
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 5
23289980 2013
11
Epidermolysis bullosa simplex ogna revisited. 5
22854623 2013
12
Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. 5
21674528 2011
13
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. 5
21109228 2010
14
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. 5
20665883 2010
15
Epidermolysis bullosa simplex with muscular dystrophy. 5
20447487 2010
16
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 5
19945614 2010
17
Epidermolysis Bullosa with Pyloric Atresia 5
20301336 2008
18
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. 5
15810881 2005
19
Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy. 5
15659326 2005
20
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 5
15654962 2005
21
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 5
10652002 2000
22
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. 5
8894687 1996
23
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. 5
8830774 1996
24
GPT--epidermolysis bullosa simplex (EBS Ogna) linkage in man. 57
4760576 1973
25
Clinical efficacy and safety of ceftobiprole in the treatment of acute bacterial skin and skin structure infection: a systematic review and meta-analysis of randomized controlled trials. 62
33971788 2022
26
Development of an In Vitro Chloroplast Splicing System: Sequences Required for Correct pre-mRNA Splicing. 62
34180531 2021
27
An S-ribonuclease binding protein EBS1 and brassinolide signaling are specifically required for Arabidopsis tolerance to bicarbonate. 62
33165537 2021
28
Metal ions and sugar puckering balance single-molecule kinetic heterogeneity in RNA and DNA tertiary contacts. 62
31913262 2020
29
Nonsense-mediated mRNA decay involves two distinct Upf1-bound complexes. 62
30275269 2018
30
Schizosaccharomyces pombe centromere protein Mis19 links Mis16 and Mis18 to recruit CENP-A through interacting with NMD factors and the SWI/SNF complex. 62
24774534 2014
31
The role of Mg(II) in DNA cleavage site recognition in group II intron ribozymes: solution structure and metal ion binding sites of the RNA-DNA complex. 62
24895129 2014
32
Novel RNA structural features of an alternatively splicing group II intron from Clostridium tetani. 62
24751650 2014
33
NMR structure of the 5' splice site in the group IIB intron Sc.ai5γ--conformational requirements for exon-intron recognition. 62
24448450 2014
34
Alternative splicing of a group II intron in a surface layer protein gene in Clostridium tetani. 62
24214997 2014
35
Interdisciplinary collaboration between medical and non-medical professions in health and social care. 62
25433356 2014
36
Role of helical constraints of the EBS1-IBS1 duplex of a group II intron on demarcation of the 5' splice site. 62
24243113 2014
37
BOBA FRET: bootstrap-based analysis of single-molecule FRET data. 62
24386343 2013
38
Kinetic subpopulations detected by single-molecule spectroscopy: fundamental property of functional nucleic acids or experimental artefact? 62
23967697 2013
39
Functional analysis of the single Est1/Ebs1 homologue in Kluyveromyces lactis reveals roles in both telomere maintenance and rapamycin resistance. 62
22544908 2012
40
Exon sequence requirements for excision in vivo of the bacterial group II intron RmInt1. 62
21605368 2011
41
ETS1 regulates NKX3.1 5' promoter activity and expression in prostate cancer cells. 62
20842667 2011
42
EcI5, a group IIB intron with high retrohoming frequency: DNA target site recognition and use in gene targeting. 62
19155322 2009
43
Divalent metal ions promote the formation of the 5'-splice site recognition complex in a self-splicing group II intron. 62
18842303 2008
44
Allele-specific suppression of a defective brassinosteroid receptor reveals a physiological role of UGGT in ER quality control. 62
17588517 2007
45
Saccharomyces cerevisiae Ebs1p is a putative ortholog of human Smg7 and promotes nonsense-mediated mRNA decay. 62
17984081 2007
46
Excision of the Sinorhizobium meliloti group II intron RmInt1 as circles in vivo. 62
16887813 2006
47
An alternative intron-exon pairing scheme implied by unexpected in vitro activities of group II intron RmInt1 from Sinorhizobium meliloti. 62
16460862 2006
48
Endotoxin-induced down-regulation of Elk-3 facilitates heme oxygenase-1 induction in macrophages. 62
16456000 2006
49
Ebs1p, a negative regulator of gene expression controlled by the Upf proteins in the yeast Saccharomyces cerevisiae. 62
16467471 2006
50
RNA splicing in higher plant mitochondria: determination of functional elements in group II intron from a chimeric cox II gene in electroporated wheat mitochondria. 62
11851920 2002

Variations for Epidermolysis Bullosa Simplex 5a, Ogna Type

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex 5a, Ogna Type:

5 (show top 50) (show all 3506)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 54 genes NC_000008.10:g.(?_144295143)_(145701139_?)del DEL Pathogenic
1454990 GRCh37: 8:144295143-145701139
GRCh38:
2 PLEC NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs) DEL Pathogenic
538947 rs1554689309 GRCh37: 8:144996482-144996485
GRCh38: 8:143922314-143922317
3 PLEC NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) DUP Pathogenic
840189 rs1186518181 GRCh37: 8:144995904-144995905
GRCh38: 8:143921736-143921737
4 PLEC NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter) SNV Pathogenic
1069886 GRCh37: 8:144991571-144991571
GRCh38: 8:143917403-143917403
5 PLEC NM_201384.3(PLEC):c.7336G>T (p.Glu2446Ter) SNV Pathogenic
1071954 GRCh37: 8:144996761-144996761
GRCh38: 8:143922593-143922593
6 PLEC NM_201384.3(PLEC):c.13106C>A (p.Ser4369Ter) SNV Pathogenic
1073588 GRCh37: 8:144990883-144990883
GRCh38: 8:143916715-143916715
7 PLEC NM_201384.3(PLEC):c.6510del (p.His2170fs) DEL Pathogenic
1074096 GRCh37: 8:144997587-144997587
GRCh38: 8:143923419-143923419
8 PLEC NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter) SNV Pathogenic
30174 rs387906802 GRCh37: 8:144997223-144997223
GRCh38: 8:143923055-143923055
9 PLEC NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) SNV Pathogenic
8266 rs137853161 GRCh37: 8:144994985-144994985
GRCh38: 8:143920817-143920817
10 PLEC NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter) SNV Pathogenic
620547 rs782107643 GRCh37: 8:144997187-144997187
GRCh38: 8:143923019-143923019
11 PLEC NM_201384.3(PLEC):c.9558_9559del (p.Glu3188fs) DEL Pathogenic
501798 rs1554681167 GRCh37: 8:144994430-144994431
GRCh38: 8:143920262-143920263
12 PLEC NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter) SNV Pathogenic
1251952 GRCh37: 8:144995840-144995840
GRCh38: 8:143921672-143921672
13 PLEC NM_201384.3(PLEC):c.2503C>T (p.Gln835Ter) SNV Pathogenic
1427195 GRCh37: 8:145004421-145004421
GRCh38: 8:143930253-143930253
14 PLEC NM_201384.3(PLEC):c.10573C>T (p.Gln3525Ter) SNV Pathogenic
1453848 GRCh37: 8:144993416-144993416
GRCh38: 8:143919248-143919248
15 PLEC NM_201384.3(PLEC):c.12926dup (p.Arg4310fs) DUP Pathogenic
1454360 GRCh37: 8:144991062-144991063
GRCh38: 8:143916894-143916895
16 PLEC NM_201384.3(PLEC):c.6664C>T (p.Gln2222Ter) SNV Pathogenic
1455035 GRCh37: 8:144997433-144997433
GRCh38: 8:143923265-143923265
17 PLEC NM_201384.3(PLEC):c.7078G>T (p.Glu2360Ter) SNV Pathogenic
1455166 GRCh37: 8:144997019-144997019
GRCh38: 8:143922851-143922851
18 PLEC NM_201384.3(PLEC):c.4606C>T (p.Gln1536Ter) SNV Pathogenic
1459261 GRCh37: 8:144999491-144999491
GRCh38: 8:143925323-143925323
19 PLEC NM_201384.3(PLEC):c.3874C>T (p.Gln1292Ter) SNV Pathogenic
1456815 GRCh37: 8:145001216-145001216
GRCh38: 8:143927048-143927048
20 PLEC NM_201384.3(PLEC):c.5170C>T (p.Gln1724Ter) SNV Pathogenic
1459260 GRCh37: 8:144998927-144998927
GRCh38: 8:143924759-143924759
21 PLEC NM_201384.3(PLEC):c.2551del (p.Val851fs) DEL Pathogenic
1385604 GRCh37: 8:145004373-145004373
GRCh38: 8:143930205-143930205
22 PLEC NM_201384.3(PLEC):c.9022C>T (p.Arg3008Ter) SNV Pathogenic
1456758 GRCh37: 8:144994967-144994967
GRCh38: 8:143920799-143920799
23 PLEC NM_201384.3(PLEC):c.4468C>T (p.Arg1490Ter) SNV Pathogenic
1324937 GRCh37: 8:144999629-144999629
GRCh38: 8:143925461-143925461
24 PLEC NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) SNV Pathogenic
Pathogenic
Pathogenic
8262 rs80338756 GRCh37: 8:144998180-144998180
GRCh38: 8:143924012-143924012
25 PLEC NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) MICROSAT Pathogenic
8259 rs786205252 GRCh37: 8:145004320-145004328
GRCh38: 8:143930152-143930160
26 PLEC NM_000445.5(PLEC):c.106_119dup (p.Gly44fs) DUP Pathogenic
1396569 GRCh37: 8:145049418-145049419
GRCh38: 8:143975250-143975251
27 PLEC NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) INDEL Likely Pathogenic
499702 rs1554683108 GRCh37: 8:144994988-144994989
GRCh38: 8:143920820-143920821
28 PLEC NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter) SNV Likely Pathogenic
538961 rs1554675388 GRCh37: 8:144992639-144992639
GRCh38: 8:143918471-143918471
29 PLEC NC_000008.10:g.(?_145008466)_(145012880_?)dup DUP Likely Pathogenic
1510440 GRCh37: 8:145008466-145012880
GRCh38:
30 PLEC and overlap with 1 gene(s) NC_000008.10:g.(?_145008783)_(145018851_?)dup DUP Likely Pathogenic
658433 GRCh37: 8:145008783-145018851
GRCh38: 8:143934615-143944683
31 PLEC NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) SNV Likely Pathogenic
417887 rs1060499581 GRCh37: 8:145008595-145008595
GRCh38: 8:143934427-143934427
32 PLEC NM_201384.3(PLEC):c.3261-1G>A SNV Likely Pathogenic
577780 rs111730406 GRCh37: 8:145002161-145002161
GRCh38: 8:143927993-143927993
33 PLEC NM_201384.3(PLEC):c.6913C>T (p.Arg2305Trp) SNV Uncertain Significance
577890 rs781995144 GRCh37: 8:144997184-144997184
GRCh38: 8:143923016-143923016
34 PLEC NM_201384.3(PLEC):c.4333C>T (p.Arg1445Cys) SNV Uncertain Significance
500310 rs782018221 GRCh37: 8:144999764-144999764
GRCh38: 8:143925596-143925596
35 PLEC NM_201384.3(PLEC):c.11755G>A (p.Glu3919Lys) SNV Uncertain Significance
290639 rs782385807 GRCh37: 8:144992234-144992234
GRCh38: 8:143918066-143918066
36 PLEC NM_201384.3(PLEC):c.4187G>A (p.Arg1396His) SNV Uncertain Significance
281402 rs148159359 GRCh37: 8:144999910-144999910
GRCh38: 8:143925742-143925742
37 PLEC NM_201384.3(PLEC):c.5401G>A (p.Glu1801Lys) SNV Uncertain Significance
578401 rs782629559 GRCh37: 8:144998696-144998696
GRCh38: 8:143924528-143924528
38 PLEC NM_201384.3(PLEC):c.6880C>T (p.Arg2294Trp) SNV Uncertain Significance
578477 rs1367010956 GRCh37: 8:144997217-144997217
GRCh38: 8:143923049-143923049
39 PLEC NM_201384.3(PLEC):c.2885G>A (p.Ser962Asn) SNV Uncertain Significance
578565 rs1564101094 GRCh37: 8:145003852-145003852
GRCh38: 8:143929684-143929684
40 PLEC NM_201384.3(PLEC):c.7949G>A (p.Arg2650Gln) SNV Uncertain Significance
578576 rs1554687458 GRCh37: 8:144996040-144996040
GRCh38: 8:143921872-143921872
41 PLEC NM_201384.3(PLEC):c.10196T>C (p.Val3399Ala) SNV Uncertain Significance
497095 rs200572137 GRCh37: 8:144993793-144993793
GRCh38: 8:143919625-143919625
42 PLEC NM_201384.3(PLEC):c.7171G>A (p.Glu2391Lys) SNV Uncertain Significance
283100 rs368939666 GRCh37: 8:144996926-144996926
GRCh38: 8:143922758-143922758
43 PLEC NM_201384.3(PLEC):c.1727G>A (p.Arg576Gln) SNV Uncertain Significance
578938 rs199826059 GRCh37: 8:145006971-145006971
GRCh38: 8:143932803-143932803
44 PLEC NM_201384.3(PLEC):c.6385G>A (p.Ala2129Thr) SNV Uncertain Significance
579245 rs782449012 GRCh37: 8:144997712-144997712
GRCh38: 8:143923544-143923544
45 PLEC NM_201384.3(PLEC):c.10472G>A (p.Arg3491His) SNV Uncertain Significance
579368 rs374469690 GRCh37: 8:144993517-144993517
GRCh38: 8:143919349-143919349
46 PLEC NM_201384.3(PLEC):c.12377G>A (p.Arg4126Gln) SNV Uncertain Significance
579459 rs192468687 GRCh37: 8:144991612-144991612
GRCh38: 8:143917444-143917444
47 PLEC NM_201384.3(PLEC):c.10933C>T (p.Arg3645Cys) SNV Uncertain Significance
579841 rs782194334 GRCh37: 8:144993056-144993056
GRCh38: 8:143918888-143918888
48 PLEC NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys) SNV Uncertain Significance
497042 rs201402970 GRCh37: 8:144994412-144994412
GRCh38: 8:143920244-143920244
49 PLEC NM_201384.3(PLEC):c.3560G>A (p.Arg1187His) SNV Uncertain Significance
580154 rs782730877 GRCh37: 8:145001774-145001774
GRCh38: 8:143927606-143927606
50 PLEC NM_201384.3(PLEC):c.10981G>A (p.Glu3661Lys) SNV Uncertain Significance
580323 rs782218716 GRCh37: 8:144993008-144993008
GRCh38: 8:143918840-143918840

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Simplex 5a, Ogna Type:

73
# Symbol AA change Variation ID SNP ID
1 PLEC p.Arg2110Trp VAR_015817 rs80338756

Expression for Epidermolysis Bullosa Simplex 5a, Ogna Type

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex 5a, Ogna Type.

Pathways for Epidermolysis Bullosa Simplex 5a, Ogna Type

GO Terms for Epidermolysis Bullosa Simplex 5a, Ogna Type

Cellular components related to Epidermolysis Bullosa Simplex 5a, Ogna Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.63 SYNM SYNC PLEC
2 intermediate filament cytoskeleton GO:0045111 9.62 SYNM PLEC
3 anchoring junction GO:0070161 9.43 SYNM PLEC NHS
4 costamere GO:0043034 9.26 SYNM PLEC
5 sarcolemma GO:0042383 9.1 SYNM SYNC PLEC

Biological processes related to Epidermolysis Bullosa Simplex 5a, Ogna Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton organization GO:0045104 8.92 SYNM PLEC

Molecular functions related to Epidermolysis Bullosa Simplex 5a, Ogna Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.26 SYNM PLEC
2 structural constituent of muscle GO:0008307 8.92 SYNM PLEC

Sources for Epidermolysis Bullosa Simplex 5a, Ogna Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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