MCID: EPD064
MIFTS: 15

Epidermolysis Bullosa Simplex with Nail Dystrophy

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex with Nail Dystrophy

MalaCards integrated aliases for Epidermolysis Bullosa Simplex with Nail Dystrophy:

Name: Epidermolysis Bullosa Simplex with Nail Dystrophy 57 75 29 6
Ebsnd 57 75
Epidermolysis Bullosa Simplex, with Nail Dystrophy 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood with exacerbation during puberty
based on report of 2 turkish sisters (last curated july 2015)


HPO:

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


Classifications:



External Ids:

OMIM 57 616487
MeSH 44 D016110
SNOMED-CT via HPO 69 258211005 87065009

Summaries for Epidermolysis Bullosa Simplex with Nail Dystrophy

UniProtKB/Swiss-Prot : 75 Epidermolysis bullosa simplex with nail dystrophy: A form of epidermolysis bullosa, a dermatologic disorder characterized by skin blistering. EBSND patients also manifest nail dystrophy.

MalaCards based summary : Epidermolysis Bullosa Simplex with Nail Dystrophy, is also known as ebsnd. An important gene associated with Epidermolysis Bullosa Simplex with Nail Dystrophy is PLEC (Plectin). Affiliated tissues include skin, and related phenotypes are plantar hyperkeratosis and nail dystrophy

Description from OMIM: 616487

Related Diseases for Epidermolysis Bullosa Simplex with Nail Dystrophy

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex with Nail Dystrophy

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
blistering skin
plantar hyperkeratosis
scarring of blistered skin
hyperpigmentation of blistered skin
hyperkeratotic papules in blistered areas

Skin Nails Hair Skin Electron Microscopy:
hypoplastic hemidesmosomes
intraepidermal pseudo-junctional cleavage

Skin Nails Hair Skin Histology:
thin granular lining of keratin staining on blister floor
very low intraepidermal cleavage in basal cells

Skin Nails Hair Nails:
dystrophic nails


Clinical features from OMIM:

616487

Human phenotypes related to Epidermolysis Bullosa Simplex with Nail Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 plantar hyperkeratosis 32 HP:0007556
2 nail dystrophy 32 HP:0008404

Drugs & Therapeutics for Epidermolysis Bullosa Simplex with Nail Dystrophy

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

Genetic Tests for Epidermolysis Bullosa Simplex with Nail Dystrophy

Genetic tests related to Epidermolysis Bullosa Simplex with Nail Dystrophy:

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

Anatomical Context for Epidermolysis Bullosa Simplex with Nail Dystrophy

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

41
Skin

Publications for Epidermolysis Bullosa Simplex with Nail Dystrophy

Variations for Epidermolysis Bullosa Simplex with Nail Dystrophy

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex with Nail Dystrophy:

6
(show top 50) (show all 1228)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh37 Chromosome 8, 144996236: 144996236
2 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh38 Chromosome 8, 143922068: 143922068
3 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh37 Chromosome 8, 144999499: 144999499
4 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh38 Chromosome 8, 143925331: 143925331
5 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh37 Chromosome 8, 144998621: 144998621
6 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh38 Chromosome 8, 143924453: 143924453
7 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh37 Chromosome 8, 144992552: 144992552
8 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh38 Chromosome 8, 143918384: 143918384
9 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh37 Chromosome 8, 144992781: 144992781
10 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh38 Chromosome 8, 143918613: 143918613
11 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh37 Chromosome 8, 144996159: 144996159
12 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh38 Chromosome 8, 143921991: 143921991
13 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh37 Chromosome 8, 144998781: 144998781
14 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh38 Chromosome 8, 143924613: 143924613
15 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh37 Chromosome 8, 145012789: 145012789
16 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh38 Chromosome 8, 143938621: 143938621
17 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh37 Chromosome 8, 145008990: 145008990
18 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh38 Chromosome 8, 143934822: 143934822
19 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh37 Chromosome 8, 145008497: 145008497
20 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh38 Chromosome 8, 143934329: 143934329
21 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh37 Chromosome 8, 145007153: 145007153
22 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh38 Chromosome 8, 143932985: 143932985
23 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh37 Chromosome 8, 145005769: 145005769
24 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh38 Chromosome 8, 143931601: 143931601
25 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh37 Chromosome 8, 145004474: 145004474
26 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh38 Chromosome 8, 143930306: 143930306
27 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh37 Chromosome 8, 145004373: 145004373
28 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh38 Chromosome 8, 143930205: 143930205
29 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh37 Chromosome 8, 145003893: 145003893
30 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh38 Chromosome 8, 143929725: 143929725
31 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh37 Chromosome 8, 145003702: 145003702
32 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh38 Chromosome 8, 143929534: 143929534
33 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh37 Chromosome 8, 145003685: 145003685
34 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh38 Chromosome 8, 143929517: 143929517
35 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh37 Chromosome 8, 145003360: 145003360
36 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh38 Chromosome 8, 143929192: 143929192
37 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh37 Chromosome 8, 145003321: 145003321
38 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh38 Chromosome 8, 143929153: 143929153
39 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh37 Chromosome 8, 145001589: 145001589
40 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh38 Chromosome 8, 143927421: 143927421
41 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh37 Chromosome 8, 145001603: 145001603
42 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh38 Chromosome 8, 143927435: 143927435
43 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151022876 GRCh37 Chromosome 8, 145001482: 145001482
44 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151022876 GRCh38 Chromosome 8, 143927314: 143927314
45 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Likely benign rs148465219 GRCh37 Chromosome 8, 145001205: 145001205
46 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Likely benign rs148465219 GRCh38 Chromosome 8, 143927037: 143927037
47 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh37 Chromosome 8, 145000968: 145000968
48 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh38 Chromosome 8, 143926800: 143926800
49 PLEC NM_000445.4(PLEC): c.7348G> A (p.Ala2450Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193257576 GRCh37 Chromosome 8, 144996830: 144996830
50 PLEC NM_000445.4(PLEC): c.7348G> A (p.Ala2450Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193257576 GRCh38 Chromosome 8, 143922662: 143922662

Expression for Epidermolysis Bullosa Simplex with Nail Dystrophy

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex with Nail Dystrophy.

Pathways for Epidermolysis Bullosa Simplex with Nail Dystrophy

GO Terms for Epidermolysis Bullosa Simplex with Nail Dystrophy

Sources for Epidermolysis Bullosa Simplex with Nail Dystrophy

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