EBSB2
MCID: EPD068
MIFTS: 19

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 58 76 30 6 74
Ebsb2 58 76
Epidermolysis Bullosa Simplex, Autosomal Recessive, Type 2 41
Epidermolysis Bullosa Simplex Due to Bp230 Deficiency 60
Dst-Related Epidermolysis Bullosa Simplex 60
Ebs-Ar Bp230 60

Characteristics:

Orphanet epidemiological data:

60
epidermolysis bullosa simplex due to bp230 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
epidermolysis bullosa simplex, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 615425
MeSH 45 D016110
ICD10 via Orphanet 35 Q81.0
Orphanet 60 ORPHA412181
UMLS 74 C3809470

Summaries for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 76 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 : 58 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

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:

33
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 33 occasional (7.5%) HP:0008404
2 atrophic scars 33 HP:0001075

Symptoms via clinical synopsis from OMIM:

58
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 30 DST

Anatomical Context for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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

42
Skin

Publications for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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 446)
# Gene Variation Type Significance SNP ID Assembly Location
1 DST NM_001723.5(DST): c.3370C> T (p.Gln1124Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201045495 GRCh37 Chromosome 6, 56485462: 56485462
2 DST NM_001723.5(DST): c.3370C> T (p.Gln1124Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201045495 GRCh38 Chromosome 6, 56620664: 56620664
3 DST NM_001723.5(DST): c.3745A> T (p.Arg1249Ter) single nucleotide variant Pathogenic rs398122943 GRCh37 Chromosome 6, 56485087: 56485087
4 DST NM_001723.5(DST): c.3745A> T (p.Arg1249Ter) single nucleotide variant Pathogenic rs398122943 GRCh38 Chromosome 6, 56620289: 56620289
5 DST NM_001723.5(DST): c.22delT (p.Tyr8Thrfs) deletion Conflicting interpretations of pathogenicity rs775912185 GRCh37 Chromosome 6, 56507565: 56507565
6 DST NM_001723.5(DST): c.22delT (p.Tyr8Thrfs) deletion Conflicting interpretations of pathogenicity rs775912185 GRCh38 Chromosome 6, 56642767: 56642767
7 DST NM_001723.5(DST): c.6582A> C (p.Ala2194=) single nucleotide variant Conflicting interpretations of pathogenicity rs149007397 GRCh37 Chromosome 6, 56481683: 56481683
8 DST NM_001723.5(DST): c.6582A> C (p.Ala2194=) single nucleotide variant Conflicting interpretations of pathogenicity rs149007397 GRCh38 Chromosome 6, 56616885: 56616885
9 DST NM_001723.5(DST): c.5930C> G (p.Thr1977Arg) single nucleotide variant Uncertain significance rs148856756 GRCh37 Chromosome 6, 56482902: 56482902
10 DST NM_001723.5(DST): c.5930C> G (p.Thr1977Arg) single nucleotide variant Uncertain significance rs148856756 GRCh38 Chromosome 6, 56618104: 56618104
11 DST NM_001723.5(DST): c.4400G> A (p.Arg1467His) single nucleotide variant Conflicting interpretations of pathogenicity rs147704763 GRCh37 Chromosome 6, 56484432: 56484432
12 DST NM_001723.5(DST): c.4400G> A (p.Arg1467His) single nucleotide variant Conflicting interpretations of pathogenicity rs147704763 GRCh38 Chromosome 6, 56619634: 56619634
13 DST NM_001723.5(DST): c.4049C> T (p.Thr1350Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45472691 GRCh38 Chromosome 6, 56619985: 56619985
14 DST NM_001723.5(DST): c.4049C> T (p.Thr1350Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45472691 GRCh37 Chromosome 6, 56484783: 56484783
15 DST NM_001723.5(DST): c.3027+7A> T single nucleotide variant Conflicting interpretations of pathogenicity rs185349093 GRCh38 Chromosome 6, 56627992: 56627992
16 DST NM_001723.5(DST): c.3027+7A> T single nucleotide variant Conflicting interpretations of pathogenicity rs185349093 GRCh37 Chromosome 6, 56492790: 56492790
17 DST NM_001723.5(DST): c.2242A> G (p.Asn748Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs201419873 GRCh37 Chromosome 6, 56496791: 56496791
18 DST NM_001723.5(DST): c.2242A> G (p.Asn748Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs201419873 GRCh38 Chromosome 6, 56631993: 56631993
19 DST NM_001723.5(DST): c.1989T> C (p.Ile663=) single nucleotide variant Conflicting interpretations of pathogenicity rs200453699 GRCh37 Chromosome 6, 56498951: 56498951
20 DST NM_001723.5(DST): c.1989T> C (p.Ile663=) single nucleotide variant Conflicting interpretations of pathogenicity rs200453699 GRCh38 Chromosome 6, 56634153: 56634153
21 DST NM_001723.5(DST): c.1764G> A (p.Ala588=) single nucleotide variant Conflicting interpretations of pathogenicity rs149789667 GRCh37 Chromosome 6, 56499379: 56499379
22 DST NM_001723.5(DST): c.1764G> A (p.Ala588=) single nucleotide variant Conflicting interpretations of pathogenicity rs149789667 GRCh38 Chromosome 6, 56634581: 56634581
23 DST NM_001723.5(DST): c.909A> C (p.Ser303=) single nucleotide variant Conflicting interpretations of pathogenicity rs139336917 GRCh37 Chromosome 6, 56504826: 56504826
24 DST NM_001723.5(DST): c.909A> C (p.Ser303=) single nucleotide variant Conflicting interpretations of pathogenicity rs139336917 GRCh38 Chromosome 6, 56640028: 56640028
25 DST NM_001723.5(DST): c.7491G> A (p.Lys2497=) single nucleotide variant Conflicting interpretations of pathogenicity rs145891100 GRCh38 Chromosome 6, 56615976: 56615976
26 DST NM_001723.5(DST): c.7491G> A (p.Lys2497=) single nucleotide variant Conflicting interpretations of pathogenicity rs145891100 GRCh37 Chromosome 6, 56480774: 56480774
27 DST NM_001723.5(DST): c.6633A> G (p.Ala2211=) single nucleotide variant Benign/Likely benign rs115542549 GRCh38 Chromosome 6, 56616834: 56616834
28 DST NM_001723.5(DST): c.6633A> G (p.Ala2211=) single nucleotide variant Benign/Likely benign rs115542549 GRCh37 Chromosome 6, 56481632: 56481632
29 DST NM_001723.5(DST): c.3346C> T (p.His1116Tyr) single nucleotide variant Benign/Likely benign rs6909714 GRCh38 Chromosome 6, 56620688: 56620688
30 DST NM_001723.5(DST): c.3346C> T (p.His1116Tyr) single nucleotide variant Benign/Likely benign rs6909714 GRCh37 Chromosome 6, 56485486: 56485486
31 DST NM_001723.5(DST): c.2769G> A (p.Thr923=) single nucleotide variant Conflicting interpretations of pathogenicity rs200169945 GRCh37 Chromosome 6, 56494143: 56494143
32 DST NM_001723.5(DST): c.2769G> A (p.Thr923=) single nucleotide variant Conflicting interpretations of pathogenicity rs200169945 GRCh38 Chromosome 6, 56629345: 56629345
33 DST NM_001723.5(DST): c.2435C> T (p.Ala812Val) single nucleotide variant Uncertain significance rs150656535 GRCh37 Chromosome 6, 56496105: 56496105
34 DST NM_001723.5(DST): c.2435C> T (p.Ala812Val) single nucleotide variant Uncertain significance rs150656535 GRCh38 Chromosome 6, 56631307: 56631307
35 DST NM_001723.5(DST): c.1108C> T (p.Arg370Trp) single nucleotide variant Uncertain significance rs775464446 GRCh37 Chromosome 6, 56504388: 56504388
36 DST NM_001723.5(DST): c.1108C> T (p.Arg370Trp) single nucleotide variant Uncertain significance rs775464446 GRCh38 Chromosome 6, 56639590: 56639590
37 DST NM_001723.5(DST): c.7765A> G (p.Ile2589Val) single nucleotide variant Benign/Likely benign rs150191284 GRCh38 Chromosome 6, 56615702: 56615702
38 DST NM_001723.5(DST): c.7765A> G (p.Ile2589Val) single nucleotide variant Benign/Likely benign rs150191284 GRCh37 Chromosome 6, 56480500: 56480500
39 DST NM_001723.5(DST): c.7580T> C (p.Ile2527Thr) single nucleotide variant Uncertain significance rs754471163 GRCh38 Chromosome 6, 56615887: 56615887
40 DST NM_001723.5(DST): c.7580T> C (p.Ile2527Thr) single nucleotide variant Uncertain significance rs754471163 GRCh37 Chromosome 6, 56480685: 56480685
41 DST NM_001723.5(DST): c.7284A> G (p.Thr2428=) single nucleotide variant Conflicting interpretations of pathogenicity rs150845451 GRCh38 Chromosome 6, 56616183: 56616183
42 DST NM_001723.5(DST): c.7284A> G (p.Thr2428=) single nucleotide variant Conflicting interpretations of pathogenicity rs150845451 GRCh37 Chromosome 6, 56480981: 56480981
43 DST NM_001723.5(DST): c.6868A> G (p.Arg2290Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs112473525 GRCh38 Chromosome 6, 56616599: 56616599
44 DST NM_001723.5(DST): c.6868A> G (p.Arg2290Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs112473525 GRCh37 Chromosome 6, 56481397: 56481397
45 DST NM_001723.5(DST): c.5909T> C (p.Phe1970Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141573097 GRCh37 Chromosome 6, 56482923: 56482923
46 DST NM_001723.5(DST): c.5909T> C (p.Phe1970Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141573097 GRCh38 Chromosome 6, 56618125: 56618125
47 DST NM_001723.5(DST): c.5892C> T (p.Thr1964=) single nucleotide variant Conflicting interpretations of pathogenicity rs146263203 GRCh37 Chromosome 6, 56482940: 56482940
48 DST NM_001723.5(DST): c.5892C> T (p.Thr1964=) single nucleotide variant Conflicting interpretations of pathogenicity rs146263203 GRCh38 Chromosome 6, 56618142: 56618142
49 DST NM_001723.5(DST): c.5485C> G (p.Gln1829Glu) single nucleotide variant Benign/Likely benign rs79943354 GRCh37 Chromosome 6, 56483347: 56483347
50 DST NM_001723.5(DST): c.5485C> G (p.Gln1829Glu) single nucleotide variant Benign/Likely benign rs79943354 GRCh38 Chromosome 6, 56618549: 56618549

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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