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

EBSB2 MCID: EPD068 MIFTS: 25	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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Epidermolysis bullosa

Epidermolysis bullosa simplex

Orphanet: ⁵⁹

Rare skin diseases

External Ids:

OMIM ⁵⁷ 615425

MeSH ⁴⁴ D016110

ICD10 via Orphanet ³⁴ Q81.0

Orphanet ⁵⁹ ORPHA412181

MedGen ⁴² C3809470 CN180173

UMLS ⁷² C3809470

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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)

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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:

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

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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:

⁴¹

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. ⁸ ⁷¹	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. ⁸ ⁷¹	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	1381.75	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	20164846 22113475

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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 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

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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 UniProtKB/Swiss-Prot

⁷⁵ 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

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