EBSB2
MCID: EPD068
MIFTS: 25

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 74 29 6 72
Ebsb2 57 74
Epidermolysis Bullosa Simplex, Autosomal Recessive, Type 2 40
Epidermolysis Bullosa Simplex Due to Bp230 Deficiency 59
Dst-Related Epidermolysis Bullosa Simplex 59
Ebs-Ar Bp230 59

Characteristics:

Orphanet epidemiological data:

59
epidermolysis bullosa simplex due to bp230 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epidermolysis bullosa simplex, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 615425
MeSH 44 D016110
ICD10 via Orphanet 34 Q81.0
Orphanet 59 ORPHA412181
UMLS 72 C3809470

Summaries for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 74 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 : 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)

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:

32
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 32 occasional (7.5%) HP:0008404
2 atrophic scars 32 HP:0001075

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
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. 8 71
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 336)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DST NM_015548.5(DST): c.2461C> T (p.Arg821Ter) single nucleotide variant Pathogenic rs778397331 6:56496079-56496079 6:56631281-56631281
2 DST NM_015548.5(DST): c.3319-4996_3319-4993del deletion Pathogenic rs748899221 6:56484275-56484278 6:56619477-56619480
3 DST NM_015548.5(DST): c.3318+4241A> T single nucleotide variant Pathogenic rs398122943 6:56485087-56485087 6:56620289-56620289
4 DST NM_015548.5(DST): c.3318+3962C> T single nucleotide variant Pathogenic 6:56485366-56485366 6:56620568-56620568
5 DST NM_015548.5(DST): c.8989del (p.Val2997fs) deletion Pathogenic 6:56400003-56400003 6:56535206-56535206
6 DST NM_015548.5(DST): c.3318+4592C> T single nucleotide variant Pathogenic 6:56484736-56484736 6:56619938-56619938
7 DST NM_015548.5(DST): c.3318+4680dup duplication Pathogenic 6:56484643-56484643 6:56619850-56619850
8 DST NM_015548.5(DST): c.3040G> T (p.Glu1014Ter) single nucleotide variant Pathogenic 6:56492073-56492073 6:56627275-56627275
9 DST NM_015548.5(DST): c.775C> T (p.Arg259Ter) single nucleotide variant Pathogenic 6:56505045-56505045 6:56640247-56640247
10 DST NM_015548.5(DST): c.2670+1G> A single nucleotide variant Likely pathogenic 6:56495042-56495042 6:56630244-56630244
11 DST NM_015548.5(DST): c.1450-2A> T single nucleotide variant Likely pathogenic 6:56500514-56500514 6:56635716-56635716
12 DST NM_015548.5(DST): c.3318+4453A> C single nucleotide variant Conflicting interpretations of pathogenicity rs543767625 6:56484875-56484875 6:56620077-56620077
13 DST NM_015548.5(DST): c.3318+3832G> C single nucleotide variant Conflicting interpretations of pathogenicity rs34767818 6:56485496-56485496 6:56620698-56620698
14 DST NM_015548.5(DST): c.3318+3866C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201045495 6:56485462-56485462 6:56620664-56620664
15 DST NM_015548.5(DST): c.3295T> C (p.Leu1099=) single nucleotide variant Conflicting interpretations of pathogenicity rs147406105 6:56489351-56489351 6:56624553-56624553
16 DST NM_015548.5(DST): c.25C> T (p.Arg9Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs75671065 6:56507562-56507562 6:56642764-56642764
17 DST NM_015548.5(DST): c.3220-6T> A single nucleotide variant Conflicting interpretations of pathogenicity rs751953259 6:56489432-56489432 6:56624634-56624634
18 DST NM_015548.5(DST): c.739C> G (p.Pro247Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs151271595 6:56505081-56505081 6:56640283-56640283
19 DST NM_015548.5(DST): c.645A> T (p.Ser215=) single nucleotide variant Conflicting interpretations of pathogenicity rs113432929 6:56505175-56505175 6:56640377-56640377
20 DST NM_015548.5(DST): c.514A> G (p.Met172Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142650835 6:56505306-56505306 6:56640508-56640508
21 DST NM_015548.5(DST): c.431G> A (p.Arg144His) single nucleotide variant Conflicting interpretations of pathogenicity rs143101723 6:56505389-56505389 6:56640591-56640591
22 DST NM_015548.5(DST): c.288G> A (p.Val96=) single nucleotide variant Conflicting interpretations of pathogenicity rs746002438 6:56506873-56506873 6:56642075-56642075
23 DST NM_015548.5(DST): c.22del (p.Tyr8fs) deletion Conflicting interpretations of pathogenicity rs775912185 6:56507565-56507565 6:56642767-56642767
24 DST NM_015548.5(DST): c.3319-2401A> C single nucleotide variant Conflicting interpretations of pathogenicity rs149007397 6:56481683-56481683 6:56616885-56616885
25 DST NM_015548.5(DST): c.3318+4896G> A single nucleotide variant Conflicting interpretations of pathogenicity rs147704763 6:56484432-56484432 6:56619634-56619634
26 DST NM_015548.5(DST): c.3318+4545C> T single nucleotide variant Conflicting interpretations of pathogenicity rs45472691 6:56484783-56484783 6:56619985-56619985
27 DST NM_015548.5(DST): c.3027+7A> T single nucleotide variant Conflicting interpretations of pathogenicity rs185349093 6:56492790-56492790 6:56627992-56627992
28 DST NM_015548.5(DST): c.2242A> G (p.Asn748Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs201419873 6:56496791-56496791 6:56631993-56631993
29 DST NM_015548.5(DST): c.1989T> C (p.Ile663=) single nucleotide variant Conflicting interpretations of pathogenicity rs200453699 6:56498951-56498951 6:56634153-56634153
30 DST NM_015548.5(DST): c.1764G> A (p.Ala588=) single nucleotide variant Conflicting interpretations of pathogenicity rs149789667 6:56499379-56499379 6:56634581-56634581
31 DST NM_015548.5(DST): c.909A> C (p.Ser303=) single nucleotide variant Conflicting interpretations of pathogenicity rs139336917 6:56504826-56504826 6:56640028-56640028
32 DST NM_015548.5(DST): c.3319-1492G> A single nucleotide variant Conflicting interpretations of pathogenicity rs145891100 6:56480774-56480774 6:56615976-56615976
33 DST NM_015548.5(DST): c.2769G> A (p.Thr923=) single nucleotide variant Conflicting interpretations of pathogenicity rs200169945 6:56494143-56494143 6:56629345-56629345
34 DST NM_015548.5(DST): c.3319-1699A> G single nucleotide variant Conflicting interpretations of pathogenicity rs150845451 6:56480981-56480981 6:56616183-56616183
35 DST NM_015548.5(DST): c.3319-2115A> G single nucleotide variant Conflicting interpretations of pathogenicity rs112473525 6:56481397-56481397 6:56616599-56616599
36 DST NM_015548.5(DST): c.3319-3641T> C single nucleotide variant Conflicting interpretations of pathogenicity rs141573097 6:56482923-56482923 6:56618125-56618125
37 DST NM_015548.5(DST): c.3319-3658C> T single nucleotide variant Conflicting interpretations of pathogenicity rs146263203 6:56482940-56482940 6:56618142-56618142
38 DST NM_015548.5(DST): c.3319-4397A> C single nucleotide variant Conflicting interpretations of pathogenicity rs45487998 6:56483679-56483679 6:56618881-56618881
39 DST NM_015548.5(DST): c.3319-1403T> C single nucleotide variant Uncertain significance rs754471163 6:56480685-56480685 6:56615887-56615887
40 DST NM_015548.5(DST): c.3319-1364A> G single nucleotide variant Uncertain significance rs372196234 6:56480646-56480646 6:56615848-56615848
41 DST NM_015548.5(DST): c.3318+4893A> G single nucleotide variant Uncertain significance rs144279221 6:56484435-56484435 6:56619637-56619637
42 DST NM_015548.5(DST): c.3318+4452C> A single nucleotide variant Uncertain significance rs142302277 6:56484876-56484876 6:56620078-56620078
43 DST NM_015548.5(DST): c.2435C> T (p.Ala812Val) single nucleotide variant Uncertain significance rs150656535 6:56496105-56496105 6:56631307-56631307
44 DST NM_015548.5(DST): c.1108C> T (p.Arg370Trp) single nucleotide variant Uncertain significance rs775464446 6:56504388-56504388 6:56639590-56639590
45 DST NM_015548.5(DST): c.2779C> T (p.Arg927Trp) single nucleotide variant Uncertain significance rs200316560 6:56494133-56494133 6:56629335-56629335
46 DST NM_015548.5(DST): c.3318+4211C> T single nucleotide variant Uncertain significance rs371231287 6:56485117-56485117 6:56620319-56620319
47 DST NM_015548.5(DST): c.3319-3620C> G single nucleotide variant Uncertain significance rs148856756 6:56482902-56482902 6:56618104-56618104
48 DST NM_015548.5(DST): c.2291T> C (p.Ile764Thr) single nucleotide variant Uncertain significance rs1554529510 6:56496742-56496742 6:56631944-56631944
49 DST NM_015548.5(DST): c.1057A> G (p.Arg353Gly) single nucleotide variant Uncertain significance rs777218403 6:56504523-56504523 6:56639725-56639725
50 DST NM_015548.5(DST): c.964A> G (p.Ile322Val) single nucleotide variant Uncertain significance rs763558851 6:56504771-56504771 6:56639973-56639973

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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