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 Tissues 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 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:

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 ⁵⁶ 615425

MeSH ⁴³ 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). 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)

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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	Basal Epidermolysis Bullosa Simplex

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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:

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

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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

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

⁴⁰

Skin

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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 ⁵⁶	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. ⁵⁶ 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	PubmedIds
1	DST	Dystonin	Protein Coding	1372.14	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22113475 20164846

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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 499) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DST	NM_015548.5(DST):c.2461C>T (p.Arg821Ter)	SNV	Pathogenic	541461	rs778397331	6:56496079-56496079	6:56631281-56631281
2	DST	NM_015548.5(DST):c.3319-4996_3319-4993del	deletion	Pathogenic	541432	rs748899221	6:56484275-56484278	6:56619477-56619480
3	DST	NM_015548.5(DST):c.3318+3962C>T	SNV	Pathogenic	582018	rs577972555	6:56485366-56485366	6:56620568-56620568
4	DST	NM_015548.5(DST):c.3318+4592C>T	SNV	Pathogenic	568439	rs770035646	6:56484736-56484736	6:56619938-56619938
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+4680dup	duplication	Pathogenic	662480		6:56484642-56484643	6:56619844-56619845
7	DST	NM_015548.5(DST):c.3040G>T (p.Glu1014Ter)	SNV	Pathogenic	665283		6:56492073-56492073	6:56627275-56627275
8	DST	NM_015548.5(DST):c.775C>T (p.Arg259Ter)	SNV	Pathogenic	641493		6:56505045-56505045	6:56640247-56640247
9	DST	NC_000006.12:g.(?_56458995)_(56642798_?)del	deletion	Pathogenic	833186		6:56323793-56507596
10	DST	NM_015548.5(DST):c.3319-4134C>T	SNV	Pathogenic	862868		6:56483416-56483416	6:56618618-56618618
11	DST	NM_015548.5(DST):c.3319-4830C>T	SNV	Pathogenic	847629		6:56484112-56484112	6:56619314-56619314
12	DST	NM_015548.5(DST):c.3318+4140_3318+4144del	deletion	Pathogenic	861578		6:56485184-56485188	6:56620386-56620390
13	DST	NM_015548.5(DST):c.2303del (p.Leu768fs)	deletion	Pathogenic	836793		6:56496730-56496730	6:56631932-56631932
14	DST	NM_015548.5(DST):c.3318+4241A>T	SNV	Pathogenic	66013	rs398122943	6:56485087-56485087	6:56620289-56620289
15	DST	NM_015548.5(DST):c.2670+1G>A	SNV	Likely pathogenic	660548		6:56495042-56495042	6:56630244-56630244
16	DST	NM_015548.5(DST):c.1450-2A>T	SNV	Likely pathogenic	664361		6:56500514-56500514	6:56635716-56635716
17	DST	NM_015548.5(DST):c.14975C>T (p.Ala4992Val)	SNV	Conflicting interpretations of pathogenicity	796218		6:56328406-56328406	6:56463608-56463608
18	DST	NM_015548.5(DST):c.4970A>G (p.Lys1657Arg)	SNV	Conflicting interpretations of pathogenicity	795702		6:56457044-56457044	6:56592246-56592246
19	DST	NM_015548.5(DST):c.3386A>T (p.Asn1129Ile)	SNV	Conflicting interpretations of pathogenicity	702839		6:56479215-56479215	6:56614417-56614417
20	DST	NM_015548.5(DST):c.1094C>G (p.Ser365Cys)	SNV	Conflicting interpretations of pathogenicity	474506	rs138553142	6:56504402-56504402	6:56639604-56639604
21	DST	NM_015548.5(DST):c.15094G>T (p.Ala5032Ser)	SNV	Conflicting interpretations of pathogenicity	489327	rs201138592	6:56327879-56327879	6:56463081-56463081
22	DST	NM_015548.5(DST):c.5492T>C (p.Leu1831Ser)	SNV	Conflicting interpretations of pathogenicity	489326	rs201758531	6:56437738-56437738	6:56572940-56572940
23	DST	NM_015548.5(DST):c.12569A>G (p.Asn4190Ser)	SNV	Conflicting interpretations of pathogenicity	522338	rs199628430	6:56357844-56357844	6:56493046-56493046
24	DST	NM_015548.5(DST):c.22del (p.Tyr8fs)	deletion	Conflicting interpretations of pathogenicity	282605	rs775912185	6:56507565-56507565	6:56642767-56642767
25	DST	NM_015548.5(DST):c.3319-2401A>C	SNV	Conflicting interpretations of pathogenicity	357556	rs149007397	6:56481683-56481683	6:56616885-56616885
26	DST	NM_015548.5(DST):c.3318+4896G>A	SNV	Conflicting interpretations of pathogenicity	357574	rs147704763	6:56484432-56484432	6:56619634-56619634
27	DST	NM_015548.5(DST):c.3318+4545C>T	SNV	Conflicting interpretations of pathogenicity	357581	rs45472691	6:56484783-56484783	6:56619985-56619985
28	DST	NM_015548.5(DST):c.3027+7A>T	SNV	Conflicting interpretations of pathogenicity	357594	rs185349093	6:56492790-56492790	6:56627992-56627992
29	DST	NM_015548.5(DST):c.2242A>G (p.Asn748Asp)	SNV	Conflicting interpretations of pathogenicity	357604	rs201419873	6:56496791-56496791	6:56631993-56631993
30	DST	NM_015548.5(DST):c.1989T>C (p.Ile663=)	SNV	Conflicting interpretations of pathogenicity	357605	rs200453699	6:56498951-56498951	6:56634153-56634153
31	DST	NM_015548.5(DST):c.1764G>A (p.Ala588=)	SNV	Conflicting interpretations of pathogenicity	357607	rs149789667	6:56499379-56499379	6:56634581-56634581
32	DST	NM_015548.5(DST):c.909A>C (p.Ser303=)	SNV	Conflicting interpretations of pathogenicity	357613	rs139336917	6:56504826-56504826	6:56640028-56640028
33	DST	NM_015548.5(DST):c.3319-1426G>A	SNV	Conflicting interpretations of pathogenicity	357546	rs368876285	6:56480708-56480708	6:56615910-56615910
34	DST	NM_015548.5(DST):c.3319-1492G>A	SNV	Conflicting interpretations of pathogenicity	357548	rs145891100	6:56480774-56480774	6:56615976-56615976
35	DST	NM_015548.5(DST):c.2769G>A (p.Thr923=)	SNV	Conflicting interpretations of pathogenicity	357598	rs200169945	6:56494143-56494143	6:56629345-56629345
36	DST	NM_015548.5(DST):c.3319-1699A>G	SNV	Conflicting interpretations of pathogenicity	357549	rs150845451	6:56480981-56480981	6:56616183-56616183
37	DST	NM_015548.5(DST):c.3319-2115A>G	SNV	Conflicting interpretations of pathogenicity	357553	rs112473525	6:56481397-56481397	6:56616599-56616599
38	DST	NM_015548.5(DST):c.3319-3641T>C	SNV	Conflicting interpretations of pathogenicity	357561	rs141573097	6:56482923-56482923	6:56618125-56618125
39	DST	NM_015548.5(DST):c.3319-3658C>T	SNV	Conflicting interpretations of pathogenicity	357562	rs146263203	6:56482940-56482940	6:56618142-56618142
40	DST	NM_015548.5(DST):c.3319-4397A>C	SNV	Conflicting interpretations of pathogenicity	357566	rs45487998	6:56483679-56483679	6:56618881-56618881
41	DST	NM_015548.5(DST):c.3318+3866C>T	SNV	Conflicting interpretations of pathogenicity	66012	rs201045495	6:56485462-56485462	6:56620664-56620664
42	DST	NM_015548.5(DST):c.3318+4452C>A	SNV	Conflicting interpretations of pathogenicity	357583	rs142302277	6:56484876-56484876	6:56620078-56620078
43	DST	NM_015548.5(DST):c.3318+4546G>A	SNV	Conflicting interpretations of pathogenicity	357580	rs377356403	6:56484782-56484782	6:56619984-56619984
44	DST	NM_015548.5(DST):c.3295T>C (p.Leu1099=)	SNV	Conflicting interpretations of pathogenicity	357590	rs147406105	6:56489351-56489351	6:56624553-56624553
45	DST	NM_015548.5(DST):c.3318+3832G>C	SNV	Conflicting interpretations of pathogenicity	357589	rs34767818	6:56485496-56485496	6:56620698-56620698
46	DST	NM_015548.5(DST):c.25C>T (p.Arg9Cys)	SNV	Conflicting interpretations of pathogenicity	357622	rs75671065	6:56507562-56507562	6:56642764-56642764
47	DST	NM_015548.5(DST):c.3220-6T>A	SNV	Conflicting interpretations of pathogenicity	357592	rs751953259	6:56489432-56489432	6:56624634-56624634
48	DST	NM_015548.5(DST):c.739C>G (p.Pro247Ala)	SNV	Conflicting interpretations of pathogenicity	357616	rs151271595	6:56505081-56505081	6:56640283-56640283
49	DST	NM_015548.5(DST):c.645A>T (p.Ser215=)	SNV	Conflicting interpretations of pathogenicity	357617	rs113432929	6:56505175-56505175	6:56640377-56640377
50	DST	NM_015548.5(DST):c.514A>G (p.Met172Val)	SNV	Conflicting interpretations of pathogenicity	357618	rs142650835	6:56505306-56505306	6:56640508-56640508

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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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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

MalaCards organs/tissues related to 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