MCID: EPD003
MIFTS: 50

Epidermolysis Bullosa Simplex malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex

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Aliases & Descriptions for Epidermolysis Bullosa Simplex:

Name: Epidermolysis Bullosa Simplex 11 22 46 23 24 13 25 48 37 66
Ebs 23 24
 
Epidermolysis Bullosa Intraepidermic 46

Classifications:



External Ids:

Disease Ontology11 DOID:4644
ICD1028 Q81.0
SNOMED-CT60 205585003, 67144006
MeSH37 D016110
NCIt43 C84692

Summaries for Epidermolysis Bullosa Simplex

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NIH Rare Diseases:46 Epidermolysis bullosa simplex (ebs) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. ebs is classified into two groups of subtypes by the layer of skin at which the peeling originates. the basal subtypes cause skin peeling at the lower layers of the epidermis. the most common basal subtypes include ebs localized, dowling meara ebs, generalized other ebs and ebs with muscular dystrophy. more rarely seen basal subtypes include ebs with mottled pigmentation, ebs with pyloic atreseia, ebs ogna, and ebs circinate migratory.the suprabasal subtypes cause skin peeling at the upper layers of the epidermis and include the rare forms known as lethal acantolythic eb, plakophilin deficiency, and ebs superficialis (ebss). symptoms of ebs range from mild in the weber-cockayne type to severe with blistering that is present at birth or after. milder phenotypes of ebs have blistering confined to the limbs, whereas in the most severe dowling meara type, blisters may also form in the mouth. all of the types are typically caused by mutations in the krt5 and krt14 genes. they are usually inherited in an autosomal dominant pattern, but autosomal recessive inheritance has occurred in rare cases. treatment plans differ depending on severity but typically focus on preventing formation of blisters, caring for blistered skin, and treating infection. last updated: 7/22/2011

MalaCards based summary: Epidermolysis Bullosa Simplex, also known as ebs, is related to epidermolysis bullosa simplex-mp and epidermolysis bullosa simplex, dowling-meara type, and has symptoms including abnormal blistering of the skin, palmoplantar keratoderma and abnormality of skin pigmentation. An important gene associated with Epidermolysis Bullosa Simplex is KRT14 (Keratin 14), and among its related pathways are a6b1 and a6b4 Integrin signaling and Glucocorticoid receptor regulatory network. Affiliated tissues include skin, testes and tongue, and related mouse phenotypes are craniofacial and integument.

Genetics Home Reference:24 Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy.

Wikipedia:69 Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin... more...

GeneReviews summary for NBK1369

Related Diseases for Epidermolysis Bullosa Simplex

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Diseases in the Epidermolysis Bullosa Simplex family:

Epidermolysis Bullosa Simplex, Recessive 1

Diseases related to Epidermolysis Bullosa Simplex via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa simplex-mp34.3KRT10, KRT14, KRT5
2epidermolysis bullosa simplex, dowling-meara type33.0KRT1, KRT10, KRT14, KRT16, PLEC
3darier disease30.6ITGB4, KRT14, KRT5
4epidermolysis bullosa simplex, weber-cockayne type12.8
5epidermolysis bullosa simplex with muscular dystrophy12.7
6epidermolysis bullosa simplex, koebner type12.7
7epidermolysis bullosa simplex, ogna type12.7
8epidermolysis bullosa simplex, sutosomal recessive 212.6
9epidermolysis bullosa simplex with pyloric atresia12.6
10epidermolysis bullosa simplex, recessive 112.6
11epidermolysis bullosa simplex superficialis12.5
12epidermolysis bullosa simplex with nail dystrophy12.4
13epidermolysis bullosa simplex with anodontia/hypodontia12.4
14epidermolysis bullosa simplex, other generalized12.2
15epidermylysis bullosa simplex-mcr12.1
16ectodermal dysplasia/skin fragility syndrome11.7
17epidermolysis bullosa11.6
18epidermolysis bullosa, nonspecific, autosomal recessive11.6
19epidermolysis bullosa, late-onset localized junctional, with mental retardation11.2
20epidermolysa bullosa simplex with muscular dystrophy11.2
21pachyonychia congenita 310.8KRT14, KRT5
22dowling-degos disease 110.8KRT14, KRT5
23sed congenita10.7KRT14, KRT5
24benign intermediate mesothelioma10.7KRT14, KRT5
25female breast lower-inner quadrant cancer10.7KRT14, KRT5
26breast neuroendocrine neoplasm10.7KRT14, KRT5
27oligoastrocytoma10.7KRT14, KRT5
28bladder clear cell adenocarcinoma10.7KRT14, KRT5
29muscular dystrophy10.7
30malignant ependymoma10.7COL17A1, KRT14
31water-clear cell adenoma10.6KRT14, KRT5
32muscular dystrophy, limb-girdle, type 2q10.6ITGB4, PLEC
33connective tissue benign neoplasm10.6KRT14, KRT5
34epidermolysis bullosa, junctional, with pyloric stenosis10.6ITGB4, PLEC
35giant ganglionic hyperplasia10.6COL17A1, DST
36esophageal atresia/tracheoesophageal fistula10.6ITGB4, PLEC
37papillary adenoma10.6KRT14, KRT5
38submandibular gland cancer10.6COL17A1, DST
39cryptosporidiosis10.6KRT17, KRT5
40pleomorphic carcinoma10.6KRT14, KRT5
41epidermolysis bullosa, junctional, non-herlitz type10.5COL17A1, ITGB4
42impetigo10.5COL17A1, DST
43quinquaud's decalvans folliculitis10.5COL17A1, KRT14, KRT5
44spinocerebellar ataxia 2310.5DST, ITGB4
45intracranial arteriovenous malformation10.5KRT1, KRT5
46epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia10.4KRT14, KRT16
47autism spectrum disorder10.4COL17A1, DST, PLEC
48ichthyosis vulgaris10.4KRT1, KRT14
49ductal carcinoma in situ10.4KRT14, KRT17, KRT5
50sporotrichosis10.4COL17A1, DST, PLEC

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex:



Diseases related to epidermolysis bullosa simplex

Symptoms for Epidermolysis Bullosa Simplex

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HPO human phenotypes related to Epidermolysis Bullosa Simplex:

(show all 9)
id Description Frequency HPO Source Accession
1 abnormal blistering of the skin hallmark (90%) HP:0008066
2 palmoplantar keratoderma typical (50%) HP:0000982
3 abnormality of skin pigmentation typical (50%) HP:0001000
4 anonychia typical (50%) HP:0001798
5 pyloric stenosis typical (50%) HP:0002021
6 skin ulcer typical (50%) HP:0200042
7 atypical scarring of skin occasional (7.5%) HP:0000987
8 abnormality of the fingernails occasional (7.5%) HP:0001231
9 neoplasm occasional (7.5%) HP:0002664

Drugs & Therapeutics for Epidermolysis Bullosa Simplex

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Drugs for Epidermolysis Bullosa Simplex (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ErythromycinPhase 392114-07-812560
Synonyms:
(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-6-{[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyltetrahydro-2H-pyran-2-yl]oxy}-14-ethyl-7,12,13-trihydroxy-4-{[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-3,5,7,9,11,13-hexamethyloxacyclotetradecane-2,10-dione
,10-dione
114-07-8
3''-O-demethylerythromycin
374700-25-1
45673_FLUKA
45674_FLUKA
79235-06-6
82343-12-2
A/T/S
AC-12744
AC1L1FIQ
AC1L1QK7
AC1L1ZUR
AC1O8PVA
AC1Q2UA1
AC1Q6O1S
AI3-50138
AR-1A4414
AR-1H0723
Abboticin
Abomacetin
Acneryne
Acnesol
Ak-Mycin
Ak-mycin
Akne Cordes Losung
Akne-Mycin
Akne-mycin (TN)
Aknederm Ery Gel
Aknemycin
Aknin
AustriaS
BB_NC-1332
BIDD:GT0017
BPBio1_000312
BSPBio_000282
BSPBio_002480
Benzamycin
Benzamycin Pak
Bristamycin
C-Solve-2
C01912
C37H67NO13
CCRIS 9078
CHEBI:42355
CHEMBL532
CID12560
CID3255
CID6713919
CID8233
D00140
DB00199
Del-Mycin
Derimer
Deripil
DivK1c_000294
DivK1c_000397
DivK1c_000702
Dotycin
Dumotrycin
E- mycin, Erycin, Robimysin
E-Base
E-Base (base)
E-Glades
E-Mycin
E-Mycin (base)
E-Solve 2
E0751
E0774_SIAL
E5389_SIGMA
E6376_SIAL
E7904_SIGMA
EINECS 204-040-1
EM
EMU
ERY
ERYC
ERYC (base)
ERYTHROMYCIN STEARATE
ETS
Emgel
Emu-V
Emu-Ve
Emuvin
Emycin
Endoeritrin
Erecin
Erimycin-T
Erisone
Eritomicina
Eritrocina
Eritromicina
Eritromicina [INN-Spanish]
Ermycin
Eros
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Eryacne
Eryacnen
Eryc
Eryc (TN)
Eryc 125
Eryc Sprinkles
Eryc-125
Eryc-250
Erycen
Erycette
Erycin
Erycinum
Eryderm
Erydermer
Erygel
Erygel (TN)
Eryhexal
Erymax
Erymed
Erypar
Erysafe
Erytab
Erythra-Derm
Erythro
Erythro-Statin
Erythro-Teva
Erythrocin
Erythrocin Stearate
Erythroderm
Erythrogran
Erythroguent
Erythromast 36
Erythromid
Erythromycin
Erythromycin & VRC3375
Erythromycin (JP15/USP/INN)
 
Erythromycin A
Erythromycin A, T-Stat, Pantomicina, HSDB 3074, Erytab, DRG-0279
Erythromycin B
Erythromycin C
Erythromycin Lactate
Erythromycin Ointment
Erythromycin Stearate
Erythromycin [INN:BAN:JAN]
Erythromycin base
Erythromycin estolate
Erythromycin ethylsuccinate
Erythromycin glucoheptonate
Erythromycin intravenous
Erythromycin lactobionate
Erythromycin oxime
Erythromycin sodium lauryl sulfate
Erythromycin, compd. with monododecyl sulfate, sodium salt
Erythromycine
Erythromycine [INN-French]
Erythromycinum
Erythromycinum [INN-Latin]
Erytop
Erytrociclin
Ethril 250
HMS1568O04
HMS1920M04
HMS2091D05
HMS500O16
HSDB 3074
I06-0245
IDI1_000294
IDI1_000397
IDI1_000702
Ilocaps
Ilosone
Ilosone (estolate)
Iloticina
Ilotycin
Ilotycin Gluceptate
Ilotycin T.S
Ilotycin T.S.
Inderm
Inderm Gel
IndermRetcin
KBio1_000294
KBio1_000397
KBio1_000702
KBio2_000555
KBio2_001139
KBio2_003123
KBio2_003707
KBio2_005691
KBio2_006275
KBioGR_001175
KBioSS_000555
KBioSS_001139
KST-1A8261
Kesso-Mycin
LMPK04000006
LS-187077
LS-64648
Latotryd
Lederpax
MLS001066618
Mephamycin
Mercina
MolPort-000-772-161
MolPort-002-507-378
MolPort-003-933-429
N-Methylerythromycin A
NCGC00179619-01
NCI-C55674
NINDS_000294
NINDS_000397
NINDS_000702
NSC 55929
NSC55929
Oftalmolosa Cusi Eritromicina
Oftamolets
PCE Dispertab (base)
Paediathrocin
Pantoderm
Pantodrin
Pantomicina
Pce
Pce (TN)
Pfizer-e
Pharyngocin
Prestwick0_000151
Prestwick1_000151
Prestwick2_000151
Prestwick3_000151
Prestwick_205
Primacine
Propiocine
Proterytrin
R-P Mycin
Retcin
Robimycin
Romycin
SBB057401
SMP1_000119
SMR000544946
SPBio_000778
SPBio_001226
SPBio_002221
SPECTRUM1500280
STK249736
Sans-acne
Sansac
Serp-AFD
Skid Gel E
Spectrum2_000759
Spectrum2_001263
Spectrum4_000538
Spectrum5_001596
Spectrum_000115
Spectrum_000659
Staticin
Staticin (TN)
Stiemicyn
Stiemycin
Sulfuric acid, monododecyl ester, sodium salt, compd. with erythromycin
T-Stat
T-stat (TN)
Taimoxin-F
Theramycin Z
Tiloryth
Tiprocin
Torlamicina
UNII-63937KV33D
Udima Ery Gel
Wemid
Wyamycin S
adecane-2,10-dione (non-preferred name)
bmse000664
erythro
erythromycin
nchembio.285-comp13
2
AcetylcholinePhase 275251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral ErythromycinRecruitingNCT01340235Phase 3
2ESSENCE Study: Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis BullosaRecruitingNCT02384460Phase 3
3Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis BullosaCompletedNCT02014376Phase 2
4Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia CongenitaRecruitingNCT00936533Phase 2
5Diacerin for the Treatment of Epidermolysis Bullosa SimplexNot yet recruitingNCT02470689Phase 2
6Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal SkinRecruitingNCT02592954Phase 1
7Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling MearaCompletedNCT01556308
8Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis BullosaActive, not recruitingNCT02090283
9Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis BullosaActive, not recruitingNCT02670330

Search NIH Clinical Center for Epidermolysis Bullosa Simplex


Cochrane evidence based reviews: epidermolysis bullosa simplex

Genetic Tests for Epidermolysis Bullosa Simplex

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Genetic tests related to Epidermolysis Bullosa Simplex:

id Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex25 23 KRT14, KRT5

Anatomical Context for Epidermolysis Bullosa Simplex

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MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

34
Skin, Testes, Tongue, Breast

Animal Models for Epidermolysis Bullosa Simplex or affiliated genes

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MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5ITGB4, KRT14, KRT16, KRT17, KRT5
2MP:00107717.8ITGB4, KRT1, KRT14, KRT16, KRT17, KRT5

Publications for Epidermolysis Bullosa Simplex

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Articles related to Epidermolysis Bullosa Simplex:

(show top 50)    (show all 340)
idTitleAuthorsYear
1
In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe. (27136972)
2016
2
A fixed denture for a child with epidermolysis bullosa simplex. (26637257)
2015
3
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation. (26432462)
2015
4
Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe. (25601422)
2015
5
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. (24964947)
2014
6
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. (25059916)
2014
7
Coexistence of KRT14 and KRT5 mutations in Polish patient with Epidermolysis Bullosa Simplex. (24024749)
2013
8
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. (24019772)
2013
9
Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy. (23889190)
2013
10
Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (22113475)
2012
11
Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. (21716320)
2011
12
Localized epidermolysis bullosa simplex (Weber-Cockayne type). (22206097)
2011
13
A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue. (20096008)
2010
14
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. (19945614)
2010
15
Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes. (20128788)
2010
16
Epidermolysis bullosa simplex. (19945613)
2010
17
A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote. (20849457)
2010
18
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure. (20030639)
2010
19
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. (19930990)
2009
20
Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A. (19153338)
2009
21
Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. (19587453)
2009
22
A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara. (17659012)
2007
23
Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. (16967486)
2007
24
Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with KAPbner-type epidermolysis bullosa simplex. (17040498)
2006
25
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14. (16601668)
2006
26
'Neural network' algorithm to predict severity in epidermolysis bullosa simplex. (16394384)
2005
27
Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland. (15827748)
2005
28
Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen. (15377356)
2004
29
Eruptive large melanocytic nevus in a patient with hereditary epidermolysis bullosa simplex. (14657636)
2003
30
Recessive epidermolysis bullosa simplex phenotype reproduced in vitro: ablation of keratin 14 is partially compensated by keratin 17. (14578178)
2003
31
Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. (12603865)
2003
32
A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex. (11990248)
2002
33
The clinical spectrum of epidermolysis bullosa simplex. (10735952)
2000
34
A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case. (10383750)
1999
35
Tetracycline and epidermolysis bullosa simplex: a new indication for one of the oldest and most widely used drugs in dermatology? (10456349)
1999
36
A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. (10583131)
1999
37
Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy. (10552210)
1999
38
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex. (10234505)
1999
39
Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote. (9284105)
1997
40
MA1nchausen's syndrome with congenital generalized epidermolysis bullosa simplex. (9059700)
1997
41
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. (8941634)
1996
42
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. (7688477)
1993
43
Epidermolysis bullosa simplex Dowling-Meara: troublesome blistering and pruritus in an adult patient. (8435522)
1993
44
Transient intraepidermal bullous reaction after skin graft for toxic epidermal necrolysis. Ultrastructural and immunohistochemical features similar to those of inherited epidermolysis bullosa simplex. (1892406)
1991
45
Cytofluorometric study of lectin binding to the keratinocytes of epidermolysis bullosa simplex. (2127148)
1990
46
Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex. (2471468)
1989
47
Gelatinase expression in generalized epidermolysis bullosa simplex fibroblasts. (3016106)
1986
48
Genetic linkage analysis of epidermolysis bullosa simplex, KAPbner type. (6507503)
1984
49
Generalized dominant epidermolysis bullosa simplex: decreased activity of a gelatinolytic protease in cultured fibroblasts as a phenotypic marker. (6315831)
1983
50
GPT--epidermolysis bullosa simplex (EBS Ogna) linkage in man. (4760576)
1973

Variations for Epidermolysis Bullosa Simplex

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Expression for genes affiliated with Epidermolysis Bullosa Simplex

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Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex.

Pathways for genes affiliated with Epidermolysis Bullosa Simplex

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Pathways related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5COL17A1, ITGB4
29.4KRT14, KRT17, KRT5
39.1KRT10, KRT17, KRT5, PLEC
4
Show member pathways
8.9COL17A1, DST, ITGB4, PLEC
5
Show member pathways
8.9COL17A1, DST, ITGB4, PLEC
6
Show member pathways
8.9COL17A1, DST, ITGB4, PLEC
7
Show member pathways
8.9COL17A1, DST, ITGB4, PLEC
8
Show member pathways
7.6DST, KRT1, KRT14, KRT16, KRT17, KRT5

GO Terms for genes affiliated with Epidermolysis Bullosa Simplex

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Cellular components related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:004509510.1KRT1, KRT14, KRT5
2hemidesmosomeGO:00300569.5COL17A1, DST, ITGB4, PLEC
3intermediate filamentGO:00058827.9BFSP2, DST, KRT10, KRT14, KRT16, KRT17
4extracellular exosomeGO:00700626.6DST, ITGB4, KRT1, KRT10, KRT14, KRT16

Biological processes related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1hair cycleGO:004263310.0KRT14, KRT16
2cell motilityGO:00488709.8DST, ITGB4
3establishment of skin barrierGO:00614369.4KRT1, KRT16
4intermediate filament cytoskeleton organizationGO:00451049.1BFSP2, DST, KRT16
5hemidesmosome assemblyGO:00315819.0COL17A1, ITGB4, KRT14, KRT5, PLEC
6cytoskeleton organizationGO:00070108.6BFSP2, DST, KRT16, KRT5
7epidermis developmentGO:00085448.0COL17A1, KRT14, KRT16, KRT17, KRT5, TGM5

Molecular functions related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052008.1BFSP2, KRT14, KRT16, KRT17, KRT5

Sources for Epidermolysis Bullosa Simplex

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet