EBSND
MCID: EPD064
MIFTS: 15

Epidermolysis Bullosa Simplex with Nail Dystrophy (EBSND)

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 nail dystrophy and plantar hyperkeratosis

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 Nails:
dystrophic nails

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

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

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


Clinical features from OMIM:

616487

Human phenotypes related to Epidermolysis Bullosa Simplex with Nail Dystrophy:

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

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 1692)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_000445.4(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh37 Chromosome 8, 144994064: 144994064
2 PLEC NM_000445.4(PLEC): c.10006C> T (p.Arg3336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77303974 GRCh38 Chromosome 8, 143919896: 143919896
3 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh37 Chromosome 8, 144994044: 144994044
4 PLEC NM_000445.4(PLEC): c.10026C> T (p.Ser3342=) single nucleotide variant Benign rs28657061 GRCh38 Chromosome 8, 143919876: 143919876
5 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh37 Chromosome 8, 144993572: 144993572
6 PLEC NM_000445.4(PLEC): c.10498G> A (p.Gly3500Ser) single nucleotide variant Uncertain significance rs201765507 GRCh38 Chromosome 8, 143919404: 143919404
7 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh37 Chromosome 8, 144993333: 144993333
8 PLEC NM_000445.4(PLEC): c.10737G> A (p.Val3579=) single nucleotide variant Conflicting interpretations of pathogenicity rs368312695 GRCh38 Chromosome 8, 143919165: 143919165
9 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh37 Chromosome 8, 144993230: 144993230
10 PLEC NM_000445.4(PLEC): c.10840C> T (p.Leu3614=) single nucleotide variant Conflicting interpretations of pathogenicity rs200006106 GRCh38 Chromosome 8, 143919062: 143919062
11 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh37 Chromosome 8, 144992049: 144992049
12 PLEC NM_000445.4(PLEC): c.12021C> T (p.Ile4007=) single nucleotide variant Benign rs148865812 GRCh38 Chromosome 8, 143917881: 143917881
13 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh37 Chromosome 8, 144991995: 144991995
14 PLEC NM_000445.4(PLEC): c.12075C> T (p.Pro4025=) single nucleotide variant Conflicting interpretations of pathogenicity rs113137721 GRCh38 Chromosome 8, 143917827: 143917827
15 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh37 Chromosome 8, 144991428: 144991428
16 PLEC NM_000445.4(PLEC): c.12642C> T (p.Asp4214=) single nucleotide variant Benign rs11998271 GRCh38 Chromosome 8, 143917260: 143917260
17 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh37 Chromosome 8, 144991205: 144991205
18 PLEC NM_000445.4(PLEC): c.12865G> A (p.Val4289Ile) single nucleotide variant Benign rs142946078 GRCh38 Chromosome 8, 143917037: 143917037
19 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh37 Chromosome 8, 144990879: 144990879
20 PLEC NM_000445.4(PLEC): c.13191C> T (p.Ala4397=) single nucleotide variant Benign rs187810163 GRCh38 Chromosome 8, 143916711: 143916711
21 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh37 Chromosome 8, 144990587: 144990587
22 PLEC NM_000445.4(PLEC): c.13483G> A (p.Ala4495Thr) single nucleotide variant Benign/Likely benign rs112322162 GRCh38 Chromosome 8, 143916419: 143916419
23 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh37 Chromosome 8, 145006793: 145006793
24 PLEC NM_000445.4(PLEC): c.1896+10G> A single nucleotide variant Benign rs398123396 GRCh38 Chromosome 8, 143932625: 143932625
25 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh37 Chromosome 8, 145006096: 145006096
26 PLEC NM_000445.4(PLEC): c.2259+9C> G single nucleotide variant Benign rs114256617 GRCh38 Chromosome 8, 143931928: 143931928
27 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh37 Chromosome 8, 145004714: 145004714
28 PLEC NM_000445.4(PLEC): c.2386-10delT deletion Benign/Likely benign rs142120912 GRCh38 Chromosome 8, 143930546: 143930546
29 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh37 Chromosome 8, 145002070: 145002070
30 PLEC NM_000445.4(PLEC): c.3432C> T (p.Ala1144=) single nucleotide variant Benign rs145376880 GRCh38 Chromosome 8, 143927902: 143927902
31 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh37 Chromosome 8, 145002043: 145002043
32 PLEC NM_000445.4(PLEC): c.3459G> A (p.Glu1153=) single nucleotide variant Benign rs11991764 GRCh38 Chromosome 8, 143927875: 143927875
33 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh37 Chromosome 8, 145001652: 145001652
34 PLEC NM_000445.4(PLEC): c.3763C> T (p.Arg1255Trp) single nucleotide variant Benign rs144610086 GRCh38 Chromosome 8, 143927484: 143927484
35 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh37 Chromosome 8, 145001512: 145001512
36 PLEC NM_000445.4(PLEC): c.3838-9A> G single nucleotide variant Benign/Likely benign rs57461687 GRCh38 Chromosome 8, 143927344: 143927344
37 PLEC NM_000445.4(PLEC): c.4637C> T (p.Ser1546Leu) single nucleotide variant Benign/Likely benign rs182120395 GRCh37 Chromosome 8, 144999541: 144999541
38 PLEC NM_000445.4(PLEC): c.4637C> T (p.Ser1546Leu) single nucleotide variant Benign/Likely benign rs182120395 GRCh38 Chromosome 8, 143925373: 143925373
39 PLEC NM_000445.4(PLEC): c.4638G> A (p.Ser1546=) single nucleotide variant Benign rs79705634 GRCh37 Chromosome 8, 144999540: 144999540
40 PLEC NM_000445.4(PLEC): c.4638G> A (p.Ser1546=) single nucleotide variant Benign rs79705634 GRCh38 Chromosome 8, 143925372: 143925372
41 PLEC NM_000445.4(PLEC): c.4725G> A (p.Ala1575=) single nucleotide variant Benign/Likely benign rs62642470 GRCh37 Chromosome 8, 144999453: 144999453
42 PLEC NM_000445.4(PLEC): c.4725G> A (p.Ala1575=) single nucleotide variant Benign/Likely benign rs62642470 GRCh38 Chromosome 8, 143925285: 143925285
43 PLEC NM_000445.4(PLEC): c.5163G> A (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 GRCh37 Chromosome 8, 144999015: 144999015
44 PLEC NM_000445.4(PLEC): c.5163G> A (p.Leu1721=) single nucleotide variant Benign/Likely benign rs182961574 GRCh38 Chromosome 8, 143924847: 143924847
45 PLEC NM_000445.4(PLEC): c.5246C> T (p.Thr1749Met) single nucleotide variant Benign/Likely benign rs377665141 GRCh37 Chromosome 8, 144998932: 144998932
46 PLEC NM_000445.4(PLEC): c.5246C> T (p.Thr1749Met) single nucleotide variant Benign/Likely benign rs377665141 GRCh38 Chromosome 8, 143924764: 143924764
47 PLEC NM_000445.4(PLEC): c.5310G> A (p.Ala1770=) single nucleotide variant Benign/Likely benign rs140406501 GRCh37 Chromosome 8, 144998868: 144998868
48 PLEC NM_000445.4(PLEC): c.5310G> A (p.Ala1770=) single nucleotide variant Benign/Likely benign rs140406501 GRCh38 Chromosome 8, 143924700: 143924700
49 PLEC NM_000445.4(PLEC): c.546G> A (p.Ser182=) single nucleotide variant Benign rs398123399 GRCh37 Chromosome 8, 145010153: 145010153
50 PLEC NM_000445.4(PLEC): c.546G> A (p.Ser182=) single nucleotide variant Benign rs398123399 GRCh38 Chromosome 8, 143935985: 143935985

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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