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 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. ⁵⁶ ⁶	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	1371.92	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 264) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DST	NM_015548.5(DST):c.3318+4241A>T	SNV	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_3319-4993del	deletion	Pathogenic	541432	rs748899221	6:56484275-56484278	6:56619477-56619480
4	DST	NM_015548.5(DST):c.3318+3962C>T	SNV	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>T	SNV	Pathogenic	568439	rs770035646	6:56484736-56484736	6:56619938-56619938
7	DST	NM_015548.5(DST):c.3318+4680dup	duplication	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>A	SNV	Likely pathogenic	660548		6:56495042-56495042	6:56630244-56630244
11	DST	NM_015548.5(DST):c.1450-2A>T	SNV	Likely pathogenic	664361		6:56500514-56500514	6:56635716-56635716
12	DST	NM_015548.5(DST):c.3318+3866C>T	SNV	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>C	SNV	Uncertain significance	474551	rs200037204	6:56480641-56480641	6:56615843-56615843
17	DST	NM_015548.5(DST):c.3319-2145C>G	SNV	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>A	SNV	Uncertain significance	474553	rs1355463553	6:56480601-56480601	6:56615803-56615803
20	DST	NM_015548.5(DST):c.3319-1821del	deletion	Uncertain significance	474549	rs758701051	6:56481103-56481103	6:56616305-56616305
21	DST	NM_015548.5(DST):c.3319-2376G>A	SNV	Uncertain significance	474544	rs750599278	6:56481658-56481658	6:56616860-56616860
22	DST	NM_015548.5(DST):c.3319-2664C>G	SNV	Uncertain significance	474538	rs148116284	6:56481946-56481946	6:56617148-56617148
23	DST	NM_015548.5(DST):c.3319-3534A>G	SNV	Uncertain significance	474535	rs139725585	6:56482816-56482816	6:56618018-56618018
24	DST	NM_015548.5(DST):c.3319-4386G>A	SNV	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>A	SNV	Uncertain significance	474547	rs748751197	6:56481342-56481342	6:56616544-56616544
30	DST	NM_015548.5(DST):c.3319-2124A>G	SNV	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>A	SNV	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>G	SNV	Uncertain significance	357560	rs148856756	6:56482902-56482902	6:56618104-56618104
36	DST	NM_015548.5(DST):c.3318+4211C>T	SNV	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>C	SNV	Uncertain significance	357545	rs754471163	6:56480685-56480685	6:56615887-56615887
39	DST	NM_015548.5(DST):c.3319-1364A>G	SNV	Uncertain significance	357544	rs372196234	6:56480646-56480646	6:56615848-56615848
40	DST	NM_015548.5(DST):c.3318+4893A>G	SNV	Uncertain significance	357575	rs144279221	6:56484435-56484435	6:56619637-56619637
41	DST	NM_015548.5(DST):c.3318+3932A>G	SNV	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>A	SNV	Uncertain significance	541468	rs771206867	6:56484850-56484850	6:56620052-56620052
45	DST	NM_015548.5(DST):c.3319-4119C>T	SNV	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>T	SNV	Uncertain significance	541460	rs369725310	6:56480956-56480956	6:56616158-56616158
48	DST	NM_015548.5(DST):c.3319-2433A>G	SNV	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>A	SNV	Uncertain significance	541453	rs201526616	6:56483737-56483737	6:56618939-56618939

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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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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

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

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