MCID: EPD003
MIFTS: 53

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 10 21 45 22 23 47 12 36 24 65
Ebs 22 23
 
Epidermolysis Bullosa Intraepidermic 45

Classifications:



External Ids:

Disease Ontology10 DOID:4644
ICD1027 Q81.0
SNOMED-CT59 205585003, 67144006
MeSH36 D016110
NCIt42 C84692
UMLS65 C0079298

Summaries for Epidermolysis Bullosa Simplex

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NIH Rare Diseases:45 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, weber-cockayne type and epidermolysis bullosa simplex-mp, 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 KRT5 (Keratin 5), and among its related pathways are a6b1 and a6b4 Integrin signaling and Glucocorticoid receptor regulatory network. Affiliated tissues include skin, breast and prostate, and related mouse phenotype integument.

Genetics Home Reference:23 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:68 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 Krt14-Related Epidermolysis Bullosa Simplex

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

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa simplex, weber-cockayne type35.1KRT14, KRT5
2epidermolysis bullosa simplex-mp34.9KRT14, KRT5
3epidermolysis bullosa simplex, dowling-meara type33.8KRT1, KRT10, KRT14, PLEC
4epidermolysis bullosa simplex with muscular dystrophy12.7
5epidermolysis bullosa simplex, koebner type12.7
6epidermolysis bullosa simplex, ogna type12.6
7epidermolysis bullosa simplex with pyloric atresia12.6
8epidermolysis bullosa simplex superficialis12.5
9epidermolysis bullosa simplex, sutosomal recessive 212.5
10epidermolysis bullosa simplex, recessive 112.4
11epidermolysis bullosa simplex with nail dystrophy12.4
12epidermolysis bullosa simplex with anodontia/hypodontia12.4
13epidermolysis bullosa simplex due to bp230 deficiency12.4
14epidermolysis bullosa simplex due to exophilin 5 deficiency12.3
15krt14-related epidermolysis bullosa simplex12.3
16epidermolysis bullosa simplex, other generalized12.2
17epidermylysis bullosa simplex-mcr12.1
18ectodermal dysplasia/skin fragility syndrome11.7
19epidermolysis bullosa11.6
20epidermolysa bullosa simplex with muscular dystrophy11.2
21epidermolysis bullosa, late-onset localized junctional, with mental retardation11.2
22pachyonychia congenita 310.7KRT14, KRT5
23dowling-degos disease 110.7KRT14, KRT5
24bile duct mucoepidermoid carcinoma10.7KRT14, KRT5
25muscular dystrophy10.7
26female breast upper-inner quadrant cancer10.7KRT14, KRT5
27breast ductal carcinoma10.7KRT14, KRT5
28sebaceous adenocarcinoma10.6KRT14, KRT5
29strabismus10.6KRT14, KRT5
30ovarian clear cell adenocarcinoma10.6KRT14, KRT5
31lichen planus pigmentosus10.6COL17A1, DST
32integumentary system cancer10.6KRT14, KRT5
33pemphigus and fogo selvagem10.6COL17A1, DST
34muscular dystrophy, limb-girdle, type 2q10.6ITGB4, PLEC
35lymphoepithelioma-like carcinoma10.5KRT14, KRT5
36epimerase deficiency galactosemia10.5ITGB4, PLEC
37liver leiomyoma10.5COL17A1, DST
38chorea gravidarum10.5COL17A1, DST
39localized lipodystrophy10.5COL17A1, ITGB4
40epidermolysis bullosa, junctional, non-herlitz type10.5COL17A1, ITGB4
41nodular basal cell carcinoma10.4KRT10, KRT14
42vulvar angiokeratoma10.4KRT1, KRT14
43gastroparesis10.4COL17A1, DST
44lymphatic system cancer10.4KRT14, KRT5
45sarcomatoid mesothelioma10.4KRT10, KRT5
46adjustment disorder10.4COL17A1, KRT14, KRT5
47bullous systemic lupus erythematosus10.4COL17A1, ITGB4
48soft palate cancer10.4COL17A1, DST
49eye carcinoma in situ10.4KRT14, KRT5
50sed congenita10.4ITGB4, KRT14, KRT5

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):

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ErythromycinapprovedPhase 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
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
E.e.s
E.e.s.
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
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Ery-ped
Ery-tab
Eryacne
Eryacnen
Erybid
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
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 Base
Erythromycin Base Base
Erythromycin Base Filmtab
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
2Erythromycin stearatePhase 392
3Anti-Bacterial AgentsPhase 39140
4Erythromycin EthylsuccinatePhase 392
5Gastrointestinal AgentsPhase 36401
6Anti-Infective AgentsPhase 317220
7Erythromycin EstolatePhase 392
8
AcetylcholineexperimentalPhase 268951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
9Neurotransmitter AgentsPhase 214795
10OnabotulinumtoxinAPhase 2588
11Peripheral Nervous System AgentsPhase 218510
12Neuromuscular AgentsPhase 2922
13Pharmaceutical SolutionsPhase 27004
14AnestheticsPhase 27385
15AbobotulinumtoxinAPhase 2588
16Botulinum ToxinsPhase 2616
17Botulinum Toxins, Type APhase 2588
18Cholinergic AgentsPhase 23243
19IncobotulinumtoxinAPhase 2599

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral ErythromycinRecruitingNCT01340235Phase 3
2Study of 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 Simplex22 KRT5, KRT14

Anatomical Context for Epidermolysis Bullosa Simplex

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MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

33
Skin, Breast, Prostate, Bone, Heart, Liver, Endothelial

Animal Models for Epidermolysis Bullosa Simplex or affiliated genes

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MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8ITGB4, KRT1, KRT14, KRT17, KRT5, PLEC

Publications for Epidermolysis Bullosa Simplex

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Articles related to Epidermolysis Bullosa Simplex:

(show top 50)    (show all 336)
idTitleAuthorsYear
1
In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe. (27136972)
2016
2
Reduction in keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide. (26264477)
2015
3
Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness. (25961909)
2015
4
A fixed denture for a child with epidermolysis bullosa simplex. (26637257)
2015
5
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
6
Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways. (26666517)
2015
7
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. (24964947)
2014
8
Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. (23103015)
2013
9
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. (23289980)
2013
10
New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy. (23496806)
2013
11
Coexistence of KRT14 and KRT5 mutations in Polish patient with Epidermolysis Bullosa Simplex. (24024749)
2013
12
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. (24019772)
2013
13
Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath. (22277943)
2012
14
Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing. (22168818)
2012
15
Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases. (21490615)
2011
16
Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. (21716320)
2011
17
Localized epidermolysis bullosa simplex (Weber-Cockayne type). (22206097)
2011
18
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. (21623745)
2011
19
A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex. (19797037)
2010
20
A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue. (20096008)
2010
21
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. (19945614)
2010
22
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
23
One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex. (20055872)
2009
24
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. (19930990)
2009
25
Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A. (19153338)
2009
26
Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation. (17635506)
2007
27
Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with KAPbner-type epidermolysis bullosa simplex. (17040498)
2006
28
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15982306)
2005
29
Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement. (19078768)
2005
30
The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15030360)
2004
31
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. (14675180)
2003
32
Epidermolysis bullosa simplex in Israel: clinical and genetic features. (12707098)
2003
33
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. (11851880)
2002
34
Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. (11710919)
2001
35
Crusted scabies in a girl with epidermolysis bullosa simplex. (10819560)
2000
36
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
37
Leukocytoclastic vasculitis in a child with epidermolysis bullosa simplex. (10770671)
1999
38
Tetracycline and epidermolysis bullosa simplex: a new indication for one of the oldest and most widely used drugs in dermatology? (10456349)
1999
39
Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote. (9284105)
1997
40
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. (9129237)
1997
41
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. (8636409)
1996
42
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. (8875963)
1996
43
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. (8941634)
1996
44
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. (7561171)
1995
45
Epidermolysis bullosa simplex with transient erythema circinatum. (7947213)
1994
46
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. (7688477)
1993
47
Anterior corneal disease of epidermolysis bullosa simplex. (8470983)
1993
48
Cytofluorometric study of lectin binding to the keratinocytes of epidermolysis bullosa simplex. (2127148)
1990
49
Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex. (2471468)
1989
50

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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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
1intermediate filament cytoskeletonGO:00451119.9DST, PLEC
2keratin filamentGO:00450959.7KRT1, KRT14, KRT5
3hemidesmosomeGO:00300569.4COL17A1, ITGB4, PLEC
4intermediate filamentGO:00058829.1BFSP2, KRT10

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

idNameGO IDScoreTop Affiliating Genes
1response to woundingGO:00096119.6DST, ITGB4
2hemidesmosome assemblyGO:00315819.4COL17A1, ITGB4, KRT14, KRT5
3epidermis developmentGO:00085448.9COL17A1, KRT17, TGM5

Sources for Epidermolysis Bullosa Simplex

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet