EBSND
MCID: EPD064
MIFTS: 29

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 72 29 6
Ebsnd 57 72
Epidermolysis Bullosa Simplex, with Nail Dystrophy 39

Characteristics:

OMIM®:

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

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


HPO:

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


Classifications:



External Ids:

OMIM® 57 616487
MeSH 44 D016110
SNOMED-CT via HPO 68 258211005 87065009

Summaries for Epidermolysis Bullosa Simplex with Nail Dystrophy

UniProtKB/Swiss-Prot : 72 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, also known as ebsnd, is related to emery-dreifuss muscular dystrophy and epidermolysis bullosa simplex. 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

More information from OMIM: 616487

Related Diseases for Epidermolysis Bullosa Simplex with Nail Dystrophy

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

# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 9.8 PLEC BCLAF1
2 epidermolysis bullosa simplex 9.4 PLEC FREM2 DCUN1D2 BCLAF1 ARHGAP10

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex with Nail Dystrophy

Human phenotypes related to Epidermolysis Bullosa Simplex with Nail Dystrophy:

31
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 HP:0008404
2 plantar hyperkeratosis 31 HP:0007556

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 Electron Microscopy:
hypoplastic hemidesmosomes
intraepidermal pseudo-junctional cleavage

Skin Nails Hair Nails:
dystrophic nails

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 (Updated 05-Apr-2021)

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:

40
Skin

Publications for Epidermolysis Bullosa Simplex with Nail Dystrophy

Articles related to Epidermolysis Bullosa Simplex with Nail Dystrophy:

# Title Authors PMID Year
1
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. 57 6
25712130 2015
2
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 6
23289980 2013
3
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. 6
20665883 2010
4
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 6
19945614 2010
5
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 6
15654962 2005
6
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 6
10652002 2000
7
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. 6
8830774 1996

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 2004)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLEC NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs) Deletion Pathogenic 538947 rs1554689309 GRCh37: 8:144996482-144996485
GRCh38: 8:143922314-143922317
2 PLEC NM_201384.3(PLEC):c.6079C>T (p.Arg2027Ter) SNV Pathogenic 830362 GRCh37: 8:144998018-144998018
GRCh38: 8:143923850-143923850
3 PLEC NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) Duplication Pathogenic 840189 GRCh37: 8:144995904-144995905
GRCh38: 8:143921736-143921737
4 PLEC NM_201384.3(PLEC):c.46C>T (p.Arg16Ter) SNV Pathogenic 204402 rs374419983 GRCh37: 8:145013584-145013584
GRCh38: 8:143939416-143939416
5 PLEC NC_000008.10:g.(?_145008783)_(145018851_?)dup Duplication Likely pathogenic 658433 GRCh37: 8:145008783-145018851
GRCh38: 8:143934615-143944683
6 PLEC NM_201384.3(PLEC):c.3261-1G>A SNV Likely pathogenic 577780 rs111730406 GRCh37: 8:145002161-145002161
GRCh38: 8:143927993-143927993
7 PLEC NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) Indel Likely pathogenic 499702 rs1554683108 GRCh37: 8:144994988-144994989
GRCh38: 8:143920820-143920821
8 PLEC NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) SNV Likely pathogenic 417887 rs1060499581 GRCh37: 8:145008595-145008595
GRCh38: 8:143934427-143934427
9 PLEC NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter) SNV Likely pathogenic 538961 rs1554675388 GRCh37: 8:144992639-144992639
GRCh38: 8:143918471-143918471
10 PLEC NM_201384.3(PLEC):c.3142G>A (p.Glu1048Lys) SNV Uncertain significance 282188 rs199523622 GRCh37: 8:145003389-145003389
GRCh38: 8:143929221-143929221
11 PLEC NM_201384.3(PLEC):c.6737G>A (p.Arg2246His) SNV Uncertain significance 538964 rs1444747601 GRCh37: 8:144997360-144997360
GRCh38: 8:143923192-143923192
12 PLEC NM_201384.3(PLEC):c.13469G>A (p.Arg4490His) SNV Uncertain significance 448052 rs782151802 GRCh37: 8:144990520-144990520
GRCh38: 8:143916352-143916352
13 PLEC NM_201384.3(PLEC):c.10835G>A (p.Arg3612Gln) SNV Uncertain significance 285678 rs369226598 GRCh37: 8:144993154-144993154
GRCh38: 8:143918986-143918986
14 PLEC NM_201384.3(PLEC):c.10501G>A (p.Val3501Ile) SNV Uncertain significance 538965 rs782252148 GRCh37: 8:144993488-144993488
GRCh38: 8:143919320-143919320
15 PLEC NM_201384.3(PLEC):c.6260G>A (p.Arg2087Gln) SNV Uncertain significance 538967 rs782091020 GRCh37: 8:144997837-144997837
GRCh38: 8:143923669-143923669
16 PLEC NM_000445.5(PLEC):c.143G>A (p.Ser48Asn) SNV Uncertain significance 538968 rs782186838 GRCh37: 8:145049395-145049395
GRCh38: 8:143975227-143975227
17 PLEC NM_201384.3(PLEC):c.11066C>T (p.Thr3689Met) SNV Uncertain significance 196848 rs377252521 GRCh37: 8:144992923-144992923
GRCh38: 8:143918755-143918755
18 PLEC NM_201384.3(PLEC):c.4334G>A (p.Arg1445His) SNV Uncertain significance 538970 rs782421383 GRCh37: 8:144999763-144999763
GRCh38: 8:143925595-143925595
19 PLEC NM_201384.3(PLEC):c.3208A>G (p.Thr1070Ala) SNV Uncertain significance 281112 rs185859960 GRCh37: 8:145003323-145003323
GRCh38: 8:143929155-143929155
20 PLEC NM_201384.3(PLEC):c.3757-6= Indel Uncertain significance 538973 GRCh37: 8:145001509-145001510
GRCh38: 8:143927341-143927342
21 PLEC NM_201384.3(PLEC):c.6272A>G (p.Glu2091Gly) SNV Uncertain significance 538974 rs1204180231 GRCh37: 8:144997825-144997825
GRCh38: 8:143923657-143923657
22 PLEC NM_201384.3(PLEC):c.6064_6065insCCC (p.Arg2022_Arg2023insPro) Insertion Uncertain significance 538975 rs1554694552 GRCh37: 8:144998032-144998033
GRCh38: 8:143923864-143923865
23 PLEC NM_201384.3(PLEC):c.2082+6G>T SNV Uncertain significance 538976 rs782596727 GRCh37: 8:145006292-145006292
GRCh38: 8:143932124-143932124
24 PLEC NM_201384.3(PLEC):c.3943G>A (p.Glu1315Lys) SNV Uncertain significance 538977 rs782504857 GRCh37: 8:145001147-145001147
GRCh38: 8:143926979-143926979
25 PLEC NM_201384.3(PLEC):c.10217G>A (p.Arg3406His) SNV Uncertain significance 538978 rs782495077 GRCh37: 8:144993772-144993772
GRCh38: 8:143919604-143919604
26 PLEC NM_201384.3(PLEC):c.8530G>T (p.Ala2844Ser) SNV Uncertain significance 538979 rs1554684937 GRCh37: 8:144995459-144995459
GRCh38: 8:143921291-143921291
27 PLEC NM_201384.3(PLEC):c.2702G>A (p.Arg901His) SNV Uncertain significance 538980 rs782494047 GRCh37: 8:145004141-145004141
GRCh38: 8:143929973-143929973
28 PLEC NM_201384.3(PLEC):c.6872C>T (p.Ala2291Val) SNV Uncertain significance 538981 rs547807861 GRCh37: 8:144997225-144997225
GRCh38: 8:143923057-143923057
29 PLEC NM_201384.3(PLEC):c.6064C>T (p.Arg2022Trp) SNV Uncertain significance 538982 rs781936068 GRCh37: 8:144998033-144998033
GRCh38: 8:143923865-143923865
30 PLEC NM_201384.3(PLEC):c.3629G>A (p.Arg1210His) SNV Uncertain significance 497366 rs369682125 GRCh37: 8:145001705-145001705
GRCh38: 8:143927537-143927537
31 PLEC NM_201384.3(PLEC):c.13578C>G (p.Gly4526=) SNV Uncertain significance 538984 rs1554668373 GRCh37: 8:144990411-144990411
GRCh38: 8:143916243-143916243
32 PLEC NM_201384.3(PLEC):c.7044G>C (p.Glu2348Asp) SNV Uncertain significance 538985 rs782060299 GRCh37: 8:144997053-144997053
GRCh38: 8:143922885-143922885
33 PLEC NM_201384.3(PLEC):c.1270C>T (p.Arg424Trp) SNV Uncertain significance 538986 rs782134950 GRCh37: 8:145007513-145007513
GRCh38: 8:143933345-143933345
34 PLEC NM_201384.3(PLEC):c.2605G>A (p.Val869Ile) SNV Uncertain significance 538987 rs782050689 GRCh37: 8:145004319-145004319
GRCh38: 8:143930151-143930151
35 PLEC NM_201384.3(PLEC):c.6937A>G (p.Lys2313Glu) SNV Uncertain significance 538989 rs1554691104 GRCh37: 8:144997160-144997160
GRCh38: 8:143922992-143922992
36 PLEC NM_201384.3(PLEC):c.7784G>A (p.Arg2595His) SNV Uncertain significance 538990 rs782343962 GRCh37: 8:144996205-144996205
GRCh38: 8:143922037-143922037
37 PLEC NM_201384.3(PLEC):c.9290C>T (p.Ser3097Leu) SNV Uncertain significance 538991 rs112196104 GRCh37: 8:144994699-144994699
GRCh38: 8:143920531-143920531
38 PLEC NM_201384.3(PLEC):c.10999C>G (p.Arg3667Gly) SNV Uncertain significance 538992 rs373318830 GRCh37: 8:144992990-144992990
GRCh38: 8:143918822-143918822
39 PLEC NM_201384.3(PLEC):c.7610A>G (p.Gln2537Arg) SNV Uncertain significance 538993 rs781861513 GRCh37: 8:144996379-144996379
GRCh38: 8:143922211-143922211
40 PLEC NM_201384.3(PLEC):c.11006G>A (p.Gly3669Asp) SNV Uncertain significance 538994 rs1554676292 GRCh37: 8:144992983-144992983
GRCh38: 8:143918815-143918815
41 PLEC NM_201384.3(PLEC):c.1541G>A (p.Arg514His) SNV Uncertain significance 487333 rs781887816 GRCh37: 8:145007157-145007157
GRCh38: 8:143932989-143932989
42 PLEC NM_201384.3(PLEC):c.13492C>T (p.Arg4498Trp) SNV Uncertain significance 487245 rs1186944515 GRCh37: 8:144990497-144990497
GRCh38: 8:143916329-143916329
43 PLEC NM_201384.3(PLEC):c.12484C>G (p.Leu4162Val) SNV Uncertain significance 487243 rs1554671816 GRCh37: 8:144991505-144991505
GRCh38: 8:143917337-143917337
44 PLEC NM_201384.3(PLEC):c.3399+5C>T SNV Uncertain significance 538997 rs782197467 GRCh37: 8:145002017-145002017
GRCh38: 8:143927849-143927849
45 PLEC NM_201384.3(PLEC):c.9791C>T (p.Ala3264Val) SNV Uncertain significance 565668 rs200413602 GRCh37: 8:144994198-144994198
GRCh38: 8:143920030-143920030
46 PLEC NM_201384.3(PLEC):c.10732G>A (p.Gly3578Ser) SNV Uncertain significance 282168 rs782222673 GRCh37: 8:144993257-144993257
GRCh38: 8:143919089-143919089
47 PLEC NM_201384.3(PLEC):c.10508C>T (p.Ala3503Val) SNV Uncertain significance 565830 rs371006283 GRCh37: 8:144993481-144993481
GRCh38: 8:143919313-143919313
48 PLEC NM_201384.3(PLEC):c.6473G>A (p.Arg2158Gln) SNV Uncertain significance 565894 rs782196935 GRCh37: 8:144997624-144997624
GRCh38: 8:143923456-143923456
49 PLEC NM_201384.3(PLEC):c.2269G>A (p.Val757Ile) SNV Uncertain significance 565915 rs782595372 GRCh37: 8:145005737-145005737
GRCh38: 8:143931569-143931569
50 PLEC NM_201384.3(PLEC):c.11288C>G (p.Ser3763Trp) SNV Uncertain significance 565967 rs377598440 GRCh37: 8:144992701-144992701
GRCh38: 8:143918533-143918533

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

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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30 HMDB
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33 ICD10 via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
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69 Tocris
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71 UMLS via Orphanet
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