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

EBSB2 MCID: EPD068 MIFTS: 20	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 ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Ebsb2 ⁵⁸ ⁷⁶

Epidermolysis Bullosa Simplex, Autosomal Recessive, Type 2 ⁴¹

Epidermolysis Bullosa Simplex Due to Bp230 Deficiency ⁶⁰

Dst-Related Epidermolysis Bullosa Simplex ⁶⁰

Ebs-Ar Bp230 ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

epidermolysis bullosa simplex due to bp230 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
two unrelated families have been reported (last curated september 2013)
blistering may worsen during the summer

HPO:

³³

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: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Epidermolysis bullosa

Epidermolysis bullosa simplex

Orphanet: ⁶⁰

Rare skin diseases

External Ids:

OMIM ⁵⁸ 615425

MeSH ⁴⁵ D016110

ICD10 via Orphanet ³⁵ Q81.0

Orphanet ⁶⁰ ORPHA412181

MedGen ⁴³ C3809470 CN180173

SNOMED-CT via HPO ⁷⁰ 239172000 258211005 409766009 more

UMLS ⁷⁴ C3809470

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Summaries for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁵⁸ 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

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Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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

³³

#	Description	HPO Frequency	HPO Source Accession
1	nail dystrophy ³³	occasional (7.5%)	HP:0008404
2	atrophic scars ³³		HP:0001075

Symptoms via clinical synopsis from OMIM:

⁵⁸

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 ³⁰	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:

⁴²

Skin

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Publications for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Articles related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

#	Title	Authors	Year
1	Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. ( 22113475 )	Liu L...McGrath JA	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. ( 20164846 )	Groves RW...McGrath JA	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	1381.53	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ 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 446)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DST	NM_001723.5(DST): c.3370C> T (p.Gln1124Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201045495	GRCh37	Chromosome 6, 56485462: 56485462
2	DST	NM_001723.5(DST): c.3370C> T (p.Gln1124Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201045495	GRCh38	Chromosome 6, 56620664: 56620664
3	DST	NM_001723.5(DST): c.3745A> T (p.Arg1249Ter)	single nucleotide variant	Pathogenic	rs398122943	GRCh37	Chromosome 6, 56485087: 56485087
4	DST	NM_001723.5(DST): c.3745A> T (p.Arg1249Ter)	single nucleotide variant	Pathogenic	rs398122943	GRCh38	Chromosome 6, 56620289: 56620289
5	DST	NM_001723.5(DST): c.22delT (p.Tyr8Thrfs)	deletion	Conflicting interpretations of pathogenicity	rs775912185	GRCh37	Chromosome 6, 56507565: 56507565
6	DST	NM_001723.5(DST): c.22delT (p.Tyr8Thrfs)	deletion	Conflicting interpretations of pathogenicity	rs775912185	GRCh38	Chromosome 6, 56642767: 56642767
7	DST	NM_001723.5(DST): c.6582A> C (p.Ala2194=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149007397	GRCh37	Chromosome 6, 56481683: 56481683
8	DST	NM_001723.5(DST): c.6582A> C (p.Ala2194=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149007397	GRCh38	Chromosome 6, 56616885: 56616885
9	DST	NM_001723.5(DST): c.5930C> G (p.Thr1977Arg)	single nucleotide variant	Uncertain significance	rs148856756	GRCh37	Chromosome 6, 56482902: 56482902
10	DST	NM_001723.5(DST): c.5930C> G (p.Thr1977Arg)	single nucleotide variant	Uncertain significance	rs148856756	GRCh38	Chromosome 6, 56618104: 56618104
11	DST	NM_001723.5(DST): c.4400G> A (p.Arg1467His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147704763	GRCh37	Chromosome 6, 56484432: 56484432
12	DST	NM_001723.5(DST): c.4400G> A (p.Arg1467His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147704763	GRCh38	Chromosome 6, 56619634: 56619634
13	DST	NM_001723.5(DST): c.4049C> T (p.Thr1350Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45472691	GRCh38	Chromosome 6, 56619985: 56619985
14	DST	NM_001723.5(DST): c.4049C> T (p.Thr1350Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45472691	GRCh37	Chromosome 6, 56484783: 56484783
15	DST	NM_001723.5(DST): c.3027+7A> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs185349093	GRCh38	Chromosome 6, 56627992: 56627992
16	DST	NM_001723.5(DST): c.3027+7A> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs185349093	GRCh37	Chromosome 6, 56492790: 56492790
17	DST	NM_001723.5(DST): c.2242A> G (p.Asn748Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201419873	GRCh37	Chromosome 6, 56496791: 56496791
18	DST	NM_001723.5(DST): c.2242A> G (p.Asn748Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201419873	GRCh38	Chromosome 6, 56631993: 56631993
19	DST	NM_001723.5(DST): c.1989T> C (p.Ile663=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200453699	GRCh37	Chromosome 6, 56498951: 56498951
20	DST	NM_001723.5(DST): c.1989T> C (p.Ile663=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200453699	GRCh38	Chromosome 6, 56634153: 56634153
21	DST	NM_001723.5(DST): c.1764G> A (p.Ala588=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149789667	GRCh37	Chromosome 6, 56499379: 56499379
22	DST	NM_001723.5(DST): c.1764G> A (p.Ala588=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149789667	GRCh38	Chromosome 6, 56634581: 56634581
23	DST	NM_001723.5(DST): c.909A> C (p.Ser303=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139336917	GRCh37	Chromosome 6, 56504826: 56504826
24	DST	NM_001723.5(DST): c.909A> C (p.Ser303=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139336917	GRCh38	Chromosome 6, 56640028: 56640028
25	DST	NM_001723.5(DST): c.7491G> A (p.Lys2497=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145891100	GRCh38	Chromosome 6, 56615976: 56615976
26	DST	NM_001723.5(DST): c.7491G> A (p.Lys2497=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145891100	GRCh37	Chromosome 6, 56480774: 56480774
27	DST	NM_001723.5(DST): c.6633A> G (p.Ala2211=)	single nucleotide variant	Benign/Likely benign	rs115542549	GRCh38	Chromosome 6, 56616834: 56616834
28	DST	NM_001723.5(DST): c.6633A> G (p.Ala2211=)	single nucleotide variant	Benign/Likely benign	rs115542549	GRCh37	Chromosome 6, 56481632: 56481632
29	DST	NM_001723.5(DST): c.3346C> T (p.His1116Tyr)	single nucleotide variant	Benign/Likely benign	rs6909714	GRCh38	Chromosome 6, 56620688: 56620688
30	DST	NM_001723.5(DST): c.3346C> T (p.His1116Tyr)	single nucleotide variant	Benign/Likely benign	rs6909714	GRCh37	Chromosome 6, 56485486: 56485486
31	DST	NM_001723.5(DST): c.2769G> A (p.Thr923=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200169945	GRCh37	Chromosome 6, 56494143: 56494143
32	DST	NM_001723.5(DST): c.2769G> A (p.Thr923=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200169945	GRCh38	Chromosome 6, 56629345: 56629345
33	DST	NM_001723.5(DST): c.2435C> T (p.Ala812Val)	single nucleotide variant	Uncertain significance	rs150656535	GRCh37	Chromosome 6, 56496105: 56496105
34	DST	NM_001723.5(DST): c.2435C> T (p.Ala812Val)	single nucleotide variant	Uncertain significance	rs150656535	GRCh38	Chromosome 6, 56631307: 56631307
35	DST	NM_001723.5(DST): c.1108C> T (p.Arg370Trp)	single nucleotide variant	Uncertain significance	rs775464446	GRCh37	Chromosome 6, 56504388: 56504388
36	DST	NM_001723.5(DST): c.1108C> T (p.Arg370Trp)	single nucleotide variant	Uncertain significance	rs775464446	GRCh38	Chromosome 6, 56639590: 56639590
37	DST	NM_001723.5(DST): c.7765A> G (p.Ile2589Val)	single nucleotide variant	Benign/Likely benign	rs150191284	GRCh38	Chromosome 6, 56615702: 56615702
38	DST	NM_001723.5(DST): c.7765A> G (p.Ile2589Val)	single nucleotide variant	Benign/Likely benign	rs150191284	GRCh37	Chromosome 6, 56480500: 56480500
39	DST	NM_001723.5(DST): c.7580T> C (p.Ile2527Thr)	single nucleotide variant	Uncertain significance	rs754471163	GRCh38	Chromosome 6, 56615887: 56615887
40	DST	NM_001723.5(DST): c.7580T> C (p.Ile2527Thr)	single nucleotide variant	Uncertain significance	rs754471163	GRCh37	Chromosome 6, 56480685: 56480685
41	DST	NM_001723.5(DST): c.7284A> G (p.Thr2428=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150845451	GRCh38	Chromosome 6, 56616183: 56616183
42	DST	NM_001723.5(DST): c.7284A> G (p.Thr2428=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150845451	GRCh37	Chromosome 6, 56480981: 56480981
43	DST	NM_001723.5(DST): c.6868A> G (p.Arg2290Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112473525	GRCh38	Chromosome 6, 56616599: 56616599
44	DST	NM_001723.5(DST): c.6868A> G (p.Arg2290Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112473525	GRCh37	Chromosome 6, 56481397: 56481397
45	DST	NM_001723.5(DST): c.5909T> C (p.Phe1970Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141573097	GRCh37	Chromosome 6, 56482923: 56482923
46	DST	NM_001723.5(DST): c.5909T> C (p.Phe1970Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141573097	GRCh38	Chromosome 6, 56618125: 56618125
47	DST	NM_001723.5(DST): c.5892C> T (p.Thr1964=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146263203	GRCh37	Chromosome 6, 56482940: 56482940
48	DST	NM_001723.5(DST): c.5892C> T (p.Thr1964=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146263203	GRCh38	Chromosome 6, 56618142: 56618142
49	DST	NM_001723.5(DST): c.5485C> G (p.Gln1829Glu)	single nucleotide variant	Benign/Likely benign	rs79943354	GRCh37	Chromosome 6, 56483347: 56483347
50	DST	NM_001723.5(DST): c.5485C> G (p.Gln1829Glu)	single nucleotide variant	Benign/Likely benign	rs79943354	GRCh38	Chromosome 6, 56618549: 56618549

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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