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 57 73 29 6 71
Ebsb2 57 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®:

57 (Updated 05-Mar-2021)
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® 57 615425
MeSH 44 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). Related phenotypes are nail dystrophy and atrophic scars

OMIM® : 57 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) (Updated 05-Mar-2021)

Related Diseases for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Diseases in the Epidermolysis Bullosa Simplex family:

Epidermolysis Bullosa Simplex, Localized Epidermolysis Bullosa Simplex, Autosomal Recessive 1
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

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 57
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. 57 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 886)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DST NM_015548.5(DST):c.3319-4830C>T SNV Pathogenic 847629 6:56484112-56484112 6:56619314-56619314
2 DST NM_015548.5(DST):c.2303del (p.Leu768fs) Deletion Pathogenic 836793 6:56496730-56496730 6:56631932-56631932
3 DST NC_000006.12:g.(?_56458995)_(56642798_?)del Deletion Pathogenic 833186 6:56323793-56507596
4 DST NM_015548.5(DST):c.3319-4134C>T SNV Pathogenic 862868 6:56483416-56483416 6:56618618-56618618
5 DST NM_015548.5(DST):c.775C>T (p.Arg259Ter) SNV Pathogenic 641493 rs376491126 6:56505045-56505045 6:56640247-56640247
6 DST NM_015548.5(DST):c.3319-3975C>T SNV Pathogenic 953197 6:56483257-56483257 6:56618459-56618459
7 DST NM_015548.5(DST):c.3318+4140_3318+4144del Deletion Pathogenic 861578 6:56485184-56485188 6:56620386-56620390
8 DST NM_015548.5(DST):c.3040G>T (p.Glu1014Ter) SNV Pathogenic 665283 rs375889300 6:56492073-56492073 6:56627275-56627275
9 DST NM_015548.5(DST):c.8989del (p.Val2997fs) Deletion Pathogenic 665690 rs1584328172 6:56400003-56400003 6:56535205-56535205
10 DST NM_015548.5(DST):c.3319-4270del Deletion Pathogenic 950202 6:56483552-56483552 6:56618754-56618754
11 DST NM_015548.5(DST):c.12577C>T (p.Gln4193Ter) SNV Pathogenic 969144 6:56357836-56357836 6:56493038-56493038
12 DST NM_015548.5(DST):c.10139G>A (p.Trp3380Ter) SNV Pathogenic 967559 6:56391280-56391280 6:56526482-56526482
13 DST NM_015548.5(DST):c.3319-4745T>G SNV Pathogenic 970830 6:56484027-56484027 6:56619229-56619229
14 DST NM_015548.5(DST):c.3319-4787T>A SNV Pathogenic 968741 6:56484069-56484069 6:56619271-56619271
15 DST NM_015548.5(DST):c.3318+3906del Deletion Pathogenic 971138 6:56485422-56485422 6:56620624-56620624
16 DST NM_015548.5(DST):c.9382C>T (p.Gln3128Ter) SNV Pathogenic 972041 6:56394789-56394789 6:56529991-56529991
17 DST NM_015548.5(DST):c.14902C>T (p.Arg4968Ter) SNV Pathogenic 971888 6:56328479-56328479 6:56463681-56463681
18 DST NM_015548.5(DST):c.6188G>A (p.Trp2063Ter) SNV Pathogenic 972275 6:56426947-56426947 6:56562149-56562149
19 DST NM_015548.5(DST):c.6348G>A (p.Trp2116Ter) SNV Pathogenic 972336 6:56426199-56426199 6:56561401-56561401
20 DST NM_015548.5(DST):c.10846C>T (p.Gln3616Ter) SNV Pathogenic 972538 6:56376060-56376060 6:56511262-56511262
21 DST NM_015548.5(DST):c.3319-4996_3319-4993del Deletion Pathogenic 541432 rs748899221 6:56484275-56484278 6:56619477-56619480
22 DST NM_015548.5(DST):c.2461C>T (p.Arg821Ter) SNV Pathogenic 541461 rs778397331 6:56496079-56496079 6:56631281-56631281
23 DST NM_015548.5(DST):c.3318+4592C>T SNV Pathogenic 568439 rs770035646 6:56484736-56484736 6:56619938-56619938
24 DST NM_015548.5(DST):c.3318+3962C>T SNV Pathogenic 582018 rs577972555 6:56485366-56485366 6:56620568-56620568
25 DST NM_015548.5(DST):c.3318+4680dup Duplication Pathogenic 662480 rs772099949 6:56484642-56484643 6:56619844-56619845
26 DST NM_015548.5(DST):c.3465dup (p.Ser1156fs) Duplication Pathogenic 965470 6:56476376-56476377 6:56611578-56611579
27 DST NM_015548.5(DST):c.12184dup (p.Thr4062fs) Duplication Pathogenic 966656 6:56362694-56362695 6:56497896-56497897
28 DST NM_015548.5(DST):c.14136_14137insAT (p.Pro4713fs) Insertion Pathogenic 970428 6:56337009-56337010 6:56472211-56472212
29 DST NM_015548.5(DST):c.7347G>A (p.Trp2449Ter) SNV Pathogenic 452321 rs893650971 6:56418374-56418374 6:56553576-56553576
30 DST NM_015548.5(DST):c.3318+4241A>T SNV Pathogenic 66013 rs398122943 6:56485087-56485087 6:56620289-56620289
31 DST NM_001374736.1(DST):c.4929+3866C>T SNV Pathogenic 66012 rs201045495 6:56485462-56485462 6:56620664-56620664
32 DST NM_001374736.1(DST):c.4929+3866C>T SNV Pathogenic/Likely pathogenic 66012 rs201045495 6:56485462-56485462 6:56620664-56620664
33 DST NM_015548.5(DST):c.1450-2A>T SNV Likely pathogenic 664361 rs1454639285 6:56500514-56500514 6:56635716-56635716
34 DST NM_015548.5(DST):c.9726+1G>A SNV Likely pathogenic 968603 6:56394245-56394245 6:56529447-56529447
35 DST NM_015548.5(DST):c.15018+1G>A SNV Likely pathogenic 967051 6:56328362-56328362 6:56463564-56463564
36 DST NM_015548.5(DST):c.2670+1G>A SNV Likely pathogenic 660548 rs1587154269 6:56495042-56495042 6:56630244-56630244
37 DST NM_015548.5(DST):c.3319-2685C>T SNV Uncertain significance 660580 rs1586758707 6:56481967-56481967 6:56617169-56617169
38 DST NM_015548.5(DST):c.3319-4371A>T SNV Uncertain significance 660766 rs1295993788 6:56483653-56483653 6:56618855-56618855
39 DST NM_015548.5(DST):c.5415G>T (p.Met1805Ile) SNV Uncertain significance 661094 rs749936213 6:56437815-56437815 6:56573017-56573017
40 DST NM_015548.5(DST):c.3227A>T (p.Asp1076Val) SNV Uncertain significance 661108 rs763518160 6:56489419-56489419 6:56624621-56624621
41 DST NM_015548.5(DST):c.3319-4754A>C SNV Uncertain significance 661445 rs200015992 6:56484036-56484036 6:56619238-56619238
42 DST NM_015548.5(DST):c.3318+4142C>T SNV Uncertain significance 662102 rs142766363 6:56485186-56485186 6:56620388-56620388
43 DST NM_015548.5(DST):c.3319-2631G>T SNV Uncertain significance 662221 rs747676783 6:56481913-56481913 6:56617115-56617115
44 DST NM_015548.5(DST):c.8693T>G (p.Val2898Gly) SNV Uncertain significance 662351 rs746708808 6:56417028-56417028 6:56552230-56552230
45 DST NM_015548.5(DST):c.5404A>G (p.Ile1802Val) SNV Uncertain significance 663290 rs182262649 6:56437826-56437826 6:56573028-56573028
46 DST NM_015548.5(DST):c.3204T>A (p.Asp1068Glu) SNV Uncertain significance 663614 rs1586982359 6:56489970-56489970 6:56625172-56625172
47 DST NM_015548.5(DST):c.4222A>G (p.Ile1408Val) SNV Uncertain significance 663675 rs200798191 6:56462642-56462642 6:56597844-56597844
48 DST NM_015548.5(DST):c.13579G>T (p.Ala4527Ser) SNV Uncertain significance 663724 rs1393774391 6:56346931-56346931 6:56482133-56482133
49 DST NM_015548.5(DST):c.3318+3870G>C SNV Uncertain significance 663792 rs528372361 6:56485458-56485458 6:56620660-56620660
50 DST NM_015548.5(DST):c.1144G>A (p.Ala382Thr) SNV Uncertain significance 664149 rs756083145 6:56504352-56504352 6:56639554-56639554

Expression for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex, Autosomal Recessive 2.

Pathways for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

GO Terms for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Sources for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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