EBSB2
MCID: EPD068
MIFTS: 26

Epidermolysis Bullosa Simplex, Autosomal Recessive 2 (EBSB2)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

MalaCards integrated aliases for Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

Name: Epidermolysis Bullosa Simplex, Autosomal Recessive 2 56 73 29 6 71
Ebsb2 56 73
Epidermolysis Bullosa Simplex, Autosomal Recessive, Type 2 39
Epidermolysis Bullosa Simplex Due to Bp230 Deficiency 58
Dst-Related Epidermolysis Bullosa Simplex 58
Ebs-Ar Bp230 58

Characteristics:

Orphanet epidemiological data:

58
epidermolysis bullosa simplex due to bp230 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
two unrelated families have been reported (last curated september 2013)
blistering may worsen during the summer


HPO:

31
epidermolysis bullosa simplex, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 615425
MeSH 43 D016110
ICD10 via Orphanet 33 Q81.0
Orphanet 58 ORPHA412181
UMLS 71 C3809470

Summaries for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 73 Epidermolysis bullosa simplex, autosomal recessive 2: A form of epidermolysis bullosa, a dermatologic disorder characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. EBSB2 is characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques.

MalaCards based summary : Epidermolysis Bullosa Simplex, Autosomal Recessive 2, is also known as ebsb2. An important gene associated with Epidermolysis Bullosa Simplex, Autosomal Recessive 2 is DST (Dystonin). Affiliated tissues include skin, and related phenotypes are nail dystrophy and atrophic scars

OMIM : 56 EBSB2 is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by Liu et al., 2012). (615425)

Related Diseases for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Human phenotypes related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

31
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 occasional (7.5%) HP:0008404
2 atrophic scars 31 HP:0001075

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
atrophic scars
blistering, mild (occurs mainly on ankles and feet and in response to trauma)

Skin Nails Hair Skin Electron Microscopy:
hemidesmosomes show poorly formed inner plaques
lucent zone between keratin filaments and outer hemidesmosomal plaques

Skin Nails Hair Skin Histology:
decreased immunostaining for bpag1-e

Skin Nails Hair Nails:
nail dystrophy (1 patient)

Clinical features from OMIM:

615425

Drugs & Therapeutics for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Genetic Tests for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Genetic tests related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 29 DST

Anatomical Context for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

40
Skin

Publications for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Articles related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

# Title Authors PMID Year
1
Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. 6 56
22113475 2012
2
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. 56 6
20164846 2010

Variations for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

6 (show top 50) (show all 499) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DST NM_015548.5(DST):c.2461C>T (p.Arg821Ter)SNV Pathogenic 541461 rs778397331 6:56496079-56496079 6:56631281-56631281
2 DST NM_015548.5(DST):c.3319-4996_3319-4993deldeletion Pathogenic 541432 rs748899221 6:56484275-56484278 6:56619477-56619480
3 DST NM_015548.5(DST):c.3318+3962C>TSNV Pathogenic 582018 rs577972555 6:56485366-56485366 6:56620568-56620568
4 DST NM_015548.5(DST):c.3318+4592C>TSNV Pathogenic 568439 rs770035646 6:56484736-56484736 6:56619938-56619938
5 DST NM_015548.5(DST):c.8989del (p.Val2997fs)deletion Pathogenic 665690 6:56400003-56400003 6:56535205-56535205
6 DST NM_015548.5(DST):c.3318+4680dupduplication Pathogenic 662480 6:56484642-56484643 6:56619844-56619845
7 DST NM_015548.5(DST):c.3040G>T (p.Glu1014Ter)SNV Pathogenic 665283 6:56492073-56492073 6:56627275-56627275
8 DST NM_015548.5(DST):c.775C>T (p.Arg259Ter)SNV Pathogenic 641493 6:56505045-56505045 6:56640247-56640247
9 DST NC_000006.12:g.(?_56458995)_(56642798_?)deldeletion Pathogenic 833186 6:56323793-56507596
10 DST NM_015548.5(DST):c.3319-4134C>TSNV Pathogenic 862868 6:56483416-56483416 6:56618618-56618618
11 DST NM_015548.5(DST):c.3319-4830C>TSNV Pathogenic 847629 6:56484112-56484112 6:56619314-56619314
12 DST NM_015548.5(DST):c.3318+4140_3318+4144deldeletion Pathogenic 861578 6:56485184-56485188 6:56620386-56620390
13 DST NM_015548.5(DST):c.2303del (p.Leu768fs)deletion Pathogenic 836793 6:56496730-56496730 6:56631932-56631932
14 DST NM_015548.5(DST):c.3318+4241A>TSNV Pathogenic 66013 rs398122943 6:56485087-56485087 6:56620289-56620289
15 DST NM_015548.5(DST):c.2670+1G>ASNV Likely pathogenic 660548 6:56495042-56495042 6:56630244-56630244
16 DST NM_015548.5(DST):c.1450-2A>TSNV Likely pathogenic 664361 6:56500514-56500514 6:56635716-56635716
17 DST NM_015548.5(DST):c.14975C>T (p.Ala4992Val)SNV Conflicting interpretations of pathogenicity 796218 6:56328406-56328406 6:56463608-56463608
18 DST NM_015548.5(DST):c.4970A>G (p.Lys1657Arg)SNV Conflicting interpretations of pathogenicity 795702 6:56457044-56457044 6:56592246-56592246
19 DST NM_015548.5(DST):c.3386A>T (p.Asn1129Ile)SNV Conflicting interpretations of pathogenicity 702839 6:56479215-56479215 6:56614417-56614417
20 DST NM_015548.5(DST):c.1094C>G (p.Ser365Cys)SNV Conflicting interpretations of pathogenicity 474506 rs138553142 6:56504402-56504402 6:56639604-56639604
21 DST NM_015548.5(DST):c.15094G>T (p.Ala5032Ser)SNV Conflicting interpretations of pathogenicity 489327 rs201138592 6:56327879-56327879 6:56463081-56463081
22 DST NM_015548.5(DST):c.5492T>C (p.Leu1831Ser)SNV Conflicting interpretations of pathogenicity 489326 rs201758531 6:56437738-56437738 6:56572940-56572940
23 DST NM_015548.5(DST):c.12569A>G (p.Asn4190Ser)SNV Conflicting interpretations of pathogenicity 522338 rs199628430 6:56357844-56357844 6:56493046-56493046
24 DST NM_015548.5(DST):c.22del (p.Tyr8fs)deletion Conflicting interpretations of pathogenicity 282605 rs775912185 6:56507565-56507565 6:56642767-56642767
25 DST NM_015548.5(DST):c.3319-2401A>CSNV Conflicting interpretations of pathogenicity 357556 rs149007397 6:56481683-56481683 6:56616885-56616885
26 DST NM_015548.5(DST):c.3318+4896G>ASNV Conflicting interpretations of pathogenicity 357574 rs147704763 6:56484432-56484432 6:56619634-56619634
27 DST NM_015548.5(DST):c.3318+4545C>TSNV Conflicting interpretations of pathogenicity 357581 rs45472691 6:56484783-56484783 6:56619985-56619985
28 DST NM_015548.5(DST):c.3027+7A>TSNV Conflicting interpretations of pathogenicity 357594 rs185349093 6:56492790-56492790 6:56627992-56627992
29 DST NM_015548.5(DST):c.2242A>G (p.Asn748Asp)SNV Conflicting interpretations of pathogenicity 357604 rs201419873 6:56496791-56496791 6:56631993-56631993
30 DST NM_015548.5(DST):c.1989T>C (p.Ile663=)SNV Conflicting interpretations of pathogenicity 357605 rs200453699 6:56498951-56498951 6:56634153-56634153
31 DST NM_015548.5(DST):c.1764G>A (p.Ala588=)SNV Conflicting interpretations of pathogenicity 357607 rs149789667 6:56499379-56499379 6:56634581-56634581
32 DST NM_015548.5(DST):c.909A>C (p.Ser303=)SNV Conflicting interpretations of pathogenicity 357613 rs139336917 6:56504826-56504826 6:56640028-56640028
33 DST NM_015548.5(DST):c.3319-1426G>ASNV Conflicting interpretations of pathogenicity 357546 rs368876285 6:56480708-56480708 6:56615910-56615910
34 DST NM_015548.5(DST):c.3319-1492G>ASNV Conflicting interpretations of pathogenicity 357548 rs145891100 6:56480774-56480774 6:56615976-56615976
35 DST NM_015548.5(DST):c.2769G>A (p.Thr923=)SNV Conflicting interpretations of pathogenicity 357598 rs200169945 6:56494143-56494143 6:56629345-56629345
36 DST NM_015548.5(DST):c.3319-1699A>GSNV Conflicting interpretations of pathogenicity 357549 rs150845451 6:56480981-56480981 6:56616183-56616183
37 DST NM_015548.5(DST):c.3319-2115A>GSNV Conflicting interpretations of pathogenicity 357553 rs112473525 6:56481397-56481397 6:56616599-56616599
38 DST NM_015548.5(DST):c.3319-3641T>CSNV Conflicting interpretations of pathogenicity 357561 rs141573097 6:56482923-56482923 6:56618125-56618125
39 DST NM_015548.5(DST):c.3319-3658C>TSNV Conflicting interpretations of pathogenicity 357562 rs146263203 6:56482940-56482940 6:56618142-56618142
40 DST NM_015548.5(DST):c.3319-4397A>CSNV Conflicting interpretations of pathogenicity 357566 rs45487998 6:56483679-56483679 6:56618881-56618881
41 DST NM_015548.5(DST):c.3318+3866C>TSNV Conflicting interpretations of pathogenicity 66012 rs201045495 6:56485462-56485462 6:56620664-56620664
42 DST NM_015548.5(DST):c.3318+4452C>ASNV Conflicting interpretations of pathogenicity 357583 rs142302277 6:56484876-56484876 6:56620078-56620078
43 DST NM_015548.5(DST):c.3318+4546G>ASNV Conflicting interpretations of pathogenicity 357580 rs377356403 6:56484782-56484782 6:56619984-56619984
44 DST NM_015548.5(DST):c.3295T>C (p.Leu1099=)SNV Conflicting interpretations of pathogenicity 357590 rs147406105 6:56489351-56489351 6:56624553-56624553
45 DST NM_015548.5(DST):c.3318+3832G>CSNV Conflicting interpretations of pathogenicity 357589 rs34767818 6:56485496-56485496 6:56620698-56620698
46 DST NM_015548.5(DST):c.25C>T (p.Arg9Cys)SNV Conflicting interpretations of pathogenicity 357622 rs75671065 6:56507562-56507562 6:56642764-56642764
47 DST NM_015548.5(DST):c.3220-6T>ASNV Conflicting interpretations of pathogenicity 357592 rs751953259 6:56489432-56489432 6:56624634-56624634
48 DST NM_015548.5(DST):c.739C>G (p.Pro247Ala)SNV Conflicting interpretations of pathogenicity 357616 rs151271595 6:56505081-56505081 6:56640283-56640283
49 DST NM_015548.5(DST):c.645A>T (p.Ser215=)SNV Conflicting interpretations of pathogenicity 357617 rs113432929 6:56505175-56505175 6:56640377-56640377
50 DST NM_015548.5(DST):c.514A>G (p.Met172Val)SNV Conflicting interpretations of pathogenicity 357618 rs142650835 6:56505306-56505306 6:56640508-56640508

Expression for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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Pathways for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

GO Terms for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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