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 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. 56 6
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DST NM_015548.5(DST):c.3318+4241A>TSNV Pathogenic 66013 rs398122943 6:56485087-56485087 6:56620289-56620289
2 DST NM_015548.5(DST):c.2461C>T (p.Arg821Ter)SNV Pathogenic 541461 rs778397331 6:56496079-56496079 6:56631281-56631281
3 DST NM_015548.5(DST):c.3319-4996_3319-4993deldeletion Pathogenic 541432 rs748899221 6:56484275-56484278 6:56619477-56619480
4 DST NM_015548.5(DST):c.3318+3962C>TSNV Pathogenic 582018 rs577972555 6:56485366-56485366 6:56620568-56620568
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+4592C>TSNV Pathogenic 568439 rs770035646 6:56484736-56484736 6:56619938-56619938
7 DST NM_015548.5(DST):c.3318+4680dupduplication Pathogenic 662480 6:56484642-56484643 6:56619844-56619845
8 DST NM_015548.5(DST):c.3040G>T (p.Glu1014Ter)SNV Pathogenic 665283 6:56492073-56492073 6:56627275-56627275
9 DST NM_015548.5(DST):c.775C>T (p.Arg259Ter)SNV Pathogenic 641493 6:56505045-56505045 6:56640247-56640247
10 DST NM_015548.5(DST):c.2670+1G>ASNV Likely pathogenic 660548 6:56495042-56495042 6:56630244-56630244
11 DST NM_015548.5(DST):c.1450-2A>TSNV Likely pathogenic 664361 6:56500514-56500514 6:56635716-56635716
12 DST NM_015548.5(DST):c.3318+3866C>TSNV Conflicting interpretations of pathogenicity 66012 rs201045495 6:56485462-56485462 6:56620664-56620664
13 DST NM_015548.5(DST):c.22del (p.Tyr8fs)deletion Conflicting interpretations of pathogenicity 282605 rs775912185 6:56507565-56507565 6:56642767-56642767
14 DST NM_015548.5(DST):c.2769G>A (p.Thr923=)SNV Conflicting interpretations of pathogenicity 357598 rs200169945 6:56494143-56494143 6:56629345-56629345
15 DST NM_015548.5(DST):c.288G>A (p.Val96=)SNV Conflicting interpretations of pathogenicity 357620 rs746002438 6:56506873-56506873 6:56642075-56642075
16 DST NM_015548.5(DST):c.3319-1359G>CSNV Uncertain significance 474551 rs200037204 6:56480641-56480641 6:56615843-56615843
17 DST NM_015548.5(DST):c.3319-2145C>GSNV Uncertain significance 474545 rs772001929 6:56481427-56481427 6:56616629-56616629
18 DST NM_015548.5(DST):c.767T>C (p.Met256Thr)SNV Uncertain significance 474554 rs912256488 6:56505053-56505053 6:56640255-56640255
19 DST NM_015548.5(DST):c.3319-1319G>ASNV Uncertain significance 474553 rs1355463553 6:56480601-56480601 6:56615803-56615803
20 DST NM_015548.5(DST):c.3319-1821deldeletion Uncertain significance 474549 rs758701051 6:56481103-56481103 6:56616305-56616305
21 DST NM_015548.5(DST):c.3319-2376G>ASNV Uncertain significance 474544 rs750599278 6:56481658-56481658 6:56616860-56616860
22 DST NM_015548.5(DST):c.3319-2664C>GSNV Uncertain significance 474538 rs148116284 6:56481946-56481946 6:56617148-56617148
23 DST NM_015548.5(DST):c.3319-3534A>GSNV Uncertain significance 474535 rs139725585 6:56482816-56482816 6:56618018-56618018
24 DST NM_015548.5(DST):c.3319-4386G>ASNV Uncertain significance 474529 rs904661472 6:56483668-56483668 6:56618870-56618870
25 DST NM_015548.5(DST):c.3202G>T (p.Asp1068Tyr)SNV Uncertain significance 474517 rs1554517569 6:56489972-56489972 6:56625174-56625174
26 DST NM_015548.5(DST):c.2612_2614AAG[2] (p.Glu873del)short repeat Uncertain significance 474514 rs770713340 6:56495093-56495095 6:56630295-56630297
27 DST NM_015548.5(DST):c.1943A>G (p.Lys648Arg)SNV Uncertain significance 474511 rs1291404920 6:56498997-56498997 6:56634199-56634199
28 DST NM_015548.5(DST):c.1439C>T (p.Ala480Val)SNV Uncertain significance 474508 rs760457066 6:56501365-56501365 6:56636567-56636567
29 DST NM_015548.5(DST):c.3319-2060G>ASNV Uncertain significance 474547 rs748751197 6:56481342-56481342 6:56616544-56616544
30 DST NM_015548.5(DST):c.3319-2124A>GSNV Uncertain significance 474546 rs373961695 6:56481406-56481406 6:56616608-56616608
31 DST NM_015548.5(DST):c.3319-3505AG[3]short repeat Uncertain significance 474536 rs772013916 6:56482783-56482784 6:56617985-56617986
32 DST NM_015548.5(DST):c.3319-4296G>ASNV Uncertain significance 474530 rs1554505256 6:56483578-56483578 6:56618780-56618780
33 DST NM_015548.5(DST):c.2435C>T (p.Ala812Val)SNV Uncertain significance 357601 rs150656535 6:56496105-56496105 6:56631307-56631307
34 DST NM_015548.5(DST):c.1108C>T (p.Arg370Trp)SNV Uncertain significance 357611 rs775464446 6:56504388-56504388 6:56639590-56639590
35 DST NM_015548.5(DST):c.3319-3620C>GSNV Uncertain significance 357560 rs148856756 6:56482902-56482902 6:56618104-56618104
36 DST NM_015548.5(DST):c.3318+4211C>TSNV Uncertain significance 357585 rs371231287 6:56485117-56485117 6:56620319-56620319
37 DST NM_015548.5(DST):c.2779C>T (p.Arg927Trp)SNV Uncertain significance 357597 rs200316560 6:56494133-56494133 6:56629335-56629335
38 DST NM_015548.5(DST):c.3319-1403T>CSNV Uncertain significance 357545 rs754471163 6:56480685-56480685 6:56615887-56615887
39 DST NM_015548.5(DST):c.3319-1364A>GSNV Uncertain significance 357544 rs372196234 6:56480646-56480646 6:56615848-56615848
40 DST NM_015548.5(DST):c.3318+4893A>GSNV Uncertain significance 357575 rs144279221 6:56484435-56484435 6:56619637-56619637
41 DST NM_015548.5(DST):c.3318+3932A>GSNV Uncertain significance 357587 rs148413592 6:56485396-56485396 6:56620598-56620598
42 DST NM_015548.5(DST):c.1339C>T (p.Arg447Trp)SNV Uncertain significance 357610 rs138162782 6:56504071-56504071 6:56639273-56639273
43 DST NM_015548.5(DST):c.893G>A (p.Arg298His)SNV Uncertain significance 357614 rs41267671 6:56504842-56504842 6:56640044-56640044
44 DST NM_015548.5(DST):c.3318+4478T>ASNV Uncertain significance 541468 rs771206867 6:56484850-56484850 6:56620052-56620052
45 DST NM_015548.5(DST):c.3319-4119C>TSNV Uncertain significance 474533 rs757428058 6:56483401-56483401 6:56618603-56618603
46 DST NM_015548.5(DST):c.261T>G (p.Ser87=)SNV Uncertain significance 541439 rs994026153 6:56507208-56507208 6:56642410-56642410
47 DST NM_015548.5(DST):c.3319-1674C>TSNV Uncertain significance 541460 rs369725310 6:56480956-56480956 6:56616158-56616158
48 DST NM_015548.5(DST):c.3319-2433A>GSNV Uncertain significance 541463 rs1042484582 6:56481715-56481715 6:56616917-56616917
49 DST NM_015548.5(DST):c.168G>A (p.Arg56=)SNV Uncertain significance 541470 rs759216859 6:56507301-56507301 6:56642503-56642503
50 DST NM_015548.5(DST):c.3319-4455G>ASNV Uncertain significance 541453 rs201526616 6:56483737-56483737 6:56618939-56618939

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

Sources for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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