Epidermolysis Bullosa Simplex, Autosomal Recessive 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

EBSB2 MCID: EPD068 MIFTS: 26	Epidermolysis Bullosa Simplex, Autosomal Recessive 2 (EBSB2) Categories: Genetic diseases, Rare diseases, Skin diseases
Genes Variations Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Epidermolysis bullosa

Epidermolysis bullosa simplex

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

OMIM® ⁵⁷ 615425

MeSH ⁴⁴ D016110

ICD10 via Orphanet ³³ Q81.0

Orphanet ⁵⁸ ORPHA412181

MedGen ⁴¹ C3809470 CN180173

SNOMED-CT via HPO ⁶⁸ 239172000 258211005 409766009 more

UMLS ⁷¹ C3809470

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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)

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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

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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)

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Drugs & Therapeutics for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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

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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

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Anatomical Context for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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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	Liu L...McGrath JA	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	Groves RW...McGrath JA	20164846	2010

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Genes for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Genes related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DST	Dystonin	Protein Coding	1397.48	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)

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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

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Expression for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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

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Pathways for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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GO Terms for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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Sources for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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⁷⁴ Wikipedia

Epidermolysis Bullosa Simplex, Autosomal Recessive 2 (EBSB2)

Aliases & Classifications for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Related Diseases for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Diseases in the Epidermolysis Bullosa Simplex family:

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

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:

Genes for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Genes related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2 (1 elite genes):

Variations for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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

Expression 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