GABEB
MCID: EPD062
MIFTS: 56

Epidermolysis Bullosa, Junctional, Non-Herlitz Type (GABEB)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

MalaCards integrated aliases for Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

Name: Epidermolysis Bullosa, Junctional, Non-Herlitz Type 56 52 39
Gabeb 56 12 52 58 73 54
Generalized Atrophic Benign Epidermolysis Bullosa 12 52 58 73
Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type 12 52 58
Junctional Epidermolysis Bullosa Generalisata Mitis 12 52 58
Junctional Epidermolysis Bullosa, Disentis Type 12 52 58
Jeb-Nh Gen 12 52 58
Jen-Nh 12 52 58
Junctional Epidermolysis Bullosa, Generalized Intermediate 52 58
Epidermolysis Bullosa, Junctional, Localisata Variant 56 6
Epidermolysis Bullosa Junctionalis, Non-Herlitz Type 56 52
Epidermolysis Bullosa, Generalized Atrophic Benign 56 13
Junctional Epidermolysis Bullosa, Non-Herlitz Type 52 58
Junctional Epidermolysis Bullosa Non-Herlitz Type 12 15
Jeb, Generalized Intermediate 52 58
Jeb-I 58 71
Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 58
Epidermolysis Bullosa, Generalized Atrophic Benign; Gabeb 56
Junctional Epidermolysis Bullosa Generalized Intermediate 52
Epidermolysis Bullosa Junctionalis, Severe Nonlethal 56
Epidermolysis Bullosa Atrophicans Generalisata Mitis 73
Epidermolysis Bullosa Junctionalis Severe Non-Lethal 73
Generalized Junctional Epidermolysis Bullosa Mitis 73
Epidermolysis Bullosa Junctionalis, Disentis Type 56
Epidermolysis Bullosa Junctionalis Disentis Type 73
Epidermolysis Bullosa Junctionalis, Progressive 56
Epidermolysis Bullosa Junctionalis Progressive 73
Non-Herlitz Junctional Epidermolysis Bullosa 73
Epidermolysis Bullosa Inversa Dystrophica 71
Junctional Epidermolysis Bullosa Inversa 58
Junctional Epidermolysis Bullosa 71
Jeb Generalized Intermediate 52
Non-Herlitz Jeb 52
Inverse Jeb 58
Jeb-Nh Loc 58
Jeb-Nh 52
Ebj-I 58

Characteristics:

Orphanet epidemiological data:

58
localized junctional epidermolysis bullosa, non-herlitz type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
junctional epidermolysis bullosa, non-herlitz type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;
junctional epidermolysis bullosa, generalized intermediate
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;
junctional epidermolysis bullosa inversa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

31
epidermolysis bullosa, junctional, non-herlitz type:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Disease Ontology : 12 A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has material basis in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.

MalaCards based summary : Epidermolysis Bullosa, Junctional, Non-Herlitz Type, also known as gabeb, is related to epidermolysis bullosa with pyloric atresia and pyloric atresia. An important gene associated with Epidermolysis Bullosa, Junctional, Non-Herlitz Type is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Anti-Inflammatory Agents and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include skin and kidney, and related phenotypes are failure to thrive and nail dystrophy

UniProtKB/Swiss-Prot : 73 Generalized atrophic benign epidermolysis bullosa: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.

More information from OMIM: 226650

Related Diseases for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Diseases in the Epidermolysis Bullosa, Junctional, Non-Herlitz Type family:

Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type

Diseases related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa with pyloric atresia 31.0 PLEC ITGB4
2 pyloric atresia 30.4 PLEC LAMC2 LAD1 ITGB4 COL17A1
3 linear iga disease 30.4 LAD1 ITGB4 DST COL17A1
4 epidermolysis bullosa simplex with muscular dystrophy 30.3 PLEC LAMA3 DST COL17A1
5 epidermolysis bullosa, junctional, herlitz type 29.9 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1
6 cicatricial pemphigoid 29.8 LAMC2 LAMA3 LAD1 ITGB4 DST COL17A1
7 epidermolysis bullosa dystrophica 29.3 PLEC LAMB3 KRT14 DST COL7A1 COL17A1
8 epidermolysis bullosa simplex 28.9 PLEC KRT14 ITGB4 DST COL7A1 COL17A1
9 epidermolysis bullosa 28.5 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4
10 skin disease 28.4 PLEC LAMC2 LAMB3 LAMA3 LAD1 KRT14
11 junctional epidermolysis bullosa 28.4 PLEC LAMC2 LAMB3 LAMA4 LAMA3 KRT14
12 bullous pemphigoid 28.3 PLEC LAMC2 LAMB3 LAMA3 LAD1 KRT14
13 junctional epidermolysis bullosa inversa 12.8
14 localized junctional epidermolysis bullosa, non-herlitz type 12.8
15 recessive dystrophic epidermolysis bullosa 10.4
16 dowling-degos disease 1 10.4
17 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 10.4
18 amelogenesis imperfecta 10.4
19 iga glomerulonephritis 10.4
20 hypereosinophilic syndrome 10.4
21 pemphigus gestationis 10.3 DST COL17A1
22 epidermolysis bullosa simplex with pyloric atresia 10.3 PLEC ITGB4
23 autosomal recessive disease 10.2
24 kidney disease 10.2
25 alopecia 10.2
26 inherited epidermolysis bullosa 10.2
27 aplasia cutis congenita, nonsyndromic 10.2 PLEC ITGB4
28 pemphigoid gestationis 10.2 DST COL17A1
29 muscular dystrophy 10.2
30 maternal uniparental disomy of chromosome 1 10.2 LAMC2 LAMB3 LAMA3
31 maternal uniparental disomy 10.2 LAMC2 LAMB3 LAMA3
32 uniparental disomy of chromosome 1 10.2 LAMC2 LAMB3 LAMA3
33 lichen planus pemphigoides 10.2 ITGB4 DST COL17A1
34 nail disorder, nonsyndromic congenital, 4 10.2 COL7A1 COL17A1
35 paraneoplastic pemphigus 10.1 DST COL17A1
36 neurotic excoriation 10.0 DST COL7A1 COL17A1
37 bullous skin disease 10.0 PLEC LAMA3 DST COL17A1
38 autoimmune disease of skin and connective tissue 9.9 PLEC LAMA3 DST COL17A1
39 cellulitis 9.9 PLEC LAMA3 DST COL17A1
40 lichen disease 9.9 DST COL17A1
41 kindler syndrome 9.9 ITGB4 DST COL7A1 COL17A1
42 epidermolysis bullosa simplex, localized 9.7 KRT14 ITGB4
43 epidermolysis bullosa simplex, dowling-meara type 9.5 PLEC KRT14 COL7A1
44 epidermolysis bullosa acquisita 9.4 LAMC2 LAMA3 LAD1 ITGB4 DST COL7A1
45 basal cell carcinoma 9.3 LAMC2 KRT14 DST COL17A1
46 epidermolysis bullosa junctionalis with pyloric atresia 9.2 PLEC LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
47 vesiculobullous skin disease 8.3 PLEC LAMC2 LAMB3 LAMA4 LAMA3 KRT14

Graphical network of the top 20 diseases related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type:



Diseases related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Symptoms & Phenotypes for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Human phenotypes related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 nail dystrophy 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0008404
3 skin vesicle 58 31 hallmark (90%) Very frequent (99-80%) HP:0200037
4 abnormality of skin pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001000
5 growth delay 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0001510
6 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
7 milia 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001056
8 abnormality of the larynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0001600
9 aplasia cutis congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0001057
10 absent toenail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001802
11 absent fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001817
12 hypoplasia of dental enamel 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0006297
13 oral mucosal blisters 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0200097
14 atrophic scars 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001075
15 scarring alopecia of scalp 58 31 hallmark (90%) Very frequent (99-80%) HP:0004552
16 fragile skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001030
17 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
18 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
19 anonychia 58 31 frequent (33%) Frequent (79-30%) HP:0001798
20 hypopigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0001010
21 hyperpigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000953
22 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
23 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
24 corneal erosion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200020
25 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
26 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
27 dermal atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0004334
28 urethral obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000796
29 urinary bladder inflammation 58 31 occasional (7.5%) Occasional (29-5%) HP:0100577
30 carious teeth 31 HP:0000670
31 abnormal blistering of the skin 58 Very frequent (99-80%),Very frequent (99-80%)
32 abnormality of the bladder 58 Occasional (29-5%)
33 hypodontia 31 HP:0000668
34 nail dysplasia 31 HP:0002164
35 camptodactyly of finger 31 HP:0100490
36 fragile nails 31 HP:0001808
37 plantar hyperkeratosis 31 HP:0007556
38 palmar hyperhidrosis 31 HP:0006089

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
hypodontia
dental caries
enamel pitting

Skeletal Feet:
plantar hyperkeratosis

Skeletal Hands:
palmar hyperhidrosis
absent dermal ridges
mild finger contractures

Skin Nails Hair Skin Histology:
subepidermal blistering
loss of dermal papillae
loss of superficial elastic fibers

Skin Nails Hair Nails:
fragile nails
nail dystrophy (onset in childhood or adolescence)

Skin Nails Hair Skin:
plantar hyperkeratosis
palmar hyperhidrosis
absent dermal ridges
non-scarring skin blistering (hands, feet, elbow, knee - onset in adolescence)

Head And Neck Mouth:
oral mucosa blisters

Skin Nails Hair Skin Electron Microscopy:
junctional blister formation
widened lamina lucida
normal hemidesmosomes

Clinical features from OMIM:

226650

MGI Mouse Phenotypes related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.96 CKAP5 COL7A1 ITGB4 KRT14 LAMA3 LAMA4
2 digestive/alimentary MP:0005381 9.92 CKAP5 COL7A1 ITGB4 KRT14 LAMA3 LAMB3
3 craniofacial MP:0005382 9.91 CKAP5 COL7A1 ITGB4 KRT14 LAMA3 LAMB3
4 integument MP:0010771 9.81 COL7A1 DGAT2L6 ITGB4 KRT14 LAMA3 LAMA4
5 mortality/aging MP:0010768 9.7 CKAP5 COL7A1 ITGB4 KRT14 LAMA3 LAMA4
6 respiratory system MP:0005388 9.1 ITGB4 KRT14 LAMA3 LAMB3 LAMC2 UNK

Drugs & Therapeutics for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Drugs for Epidermolysis Bullosa, Junctional, Non-Herlitz Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Inflammatory Agents Phase 1, Phase 2
2 Anesthetics Phase 1, Phase 2
3 Antibiotics, Antitubercular Phase 1, Phase 2
4 Anti-Bacterial Agents Phase 1, Phase 2
5 Anesthetics, General Phase 1, Phase 2
6 Gentamicins Phase 1, Phase 2
7 Anti-Infective Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective, Multicenter, Within Subject Controlled Study to Evaluate the Effect of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa Terminated NCT00587223 Phase 3
2 A Phase 2B, Multi-center, Randomized, Double-Blind, Vehicle Controlled Study of the Effectiveness and Safety of SD-101 Cream in Subjects With Epidermolysis Bullosa Completed NCT02014376 Phase 2 3% SD-101 dermal cream;6% SD-101 dermal cream;Vehicle (0% SD-101)
3 A Randomized,Single-Blind, Placebo-controlled, Self-matched Pairing, Independent Evaluated Study to Evaluate the Efficacy and Safety of RGN-137 Topical Gel in Subjects With Junctional and Dystrophic Epidermolysis Bullosa (CELEB) Recruiting NCT03578029 Phase 2 RGN-137;Placebo
4 Prospective, Open-label, Uncontrolled Clinical Trial to Assess the Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified With a Gamma-retroviral (rv) Vector Carrying COL17A1 cDNA for Restoration of Epidermis in Patients With Junctional Epidermolysis Bullosa Recruiting NCT03490331 Phase 1, Phase 2
5 A Pilot Study of the Restoration of Functional Laminin 332 in JEB Patients With Nonsense Mutations After Topical and Intravenous Gentamicin Treatment Recruiting NCT03526159 Phase 1, Phase 2 Gentamicin Sulfate
6 Optimization of Intravenous Gentamicin Treatment to Restore Functional Laminin 332 in JEB Patients With Nonsense Mutations Recruiting NCT04140786 Phase 1, Phase 2 Gentamicin Sulfate, Injectable

Search NIH Clinical Center for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Genetic Tests for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Anatomical Context for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

MalaCards organs/tissues related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

40
Skin, Kidney

Publications for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Articles related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

(show top 50) (show all 73)
# Title Authors PMID Year
1
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. 54 61 56 6
7550320 1995
2
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. 54 56 6
9038345 1997
3
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 56 6
17476356 2007
4
Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. 56 6
17115047 2006
5
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. 56 6
11810295 2002
6
A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? 56 6
10792571 2000
7
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. 56 6
9501007 1998
8
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. 56 6
7706760 1995
9
Generalized atrophic benign epidermolysis bullosa. 56 6
7092249 1982
10
Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. 54 61 6
9199555 1997
11
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. 54 61 6
9012408 1997
12
Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency. 54 61 56
8629821 1996
13
180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. 54 61 56
7883981 1995
14
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. 54 56
10330419 1999
15
Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa. 54 6
9740252 1998
16
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. 54 6
9767254 1998
17
A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele. 54 6
9457914 1998
18
Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa. 54 6
9457913 1998
19
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. 61 6
9204958 1997
20
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. 56
21357940 2011
21
Revertant mosaicism--patchwork in the skin. 56
19369679 2009
22
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 56
18374450 2008
23
Junctional Epidermolysis Bullosa 6
20301304 2008
24
Dystrophic Epidermolysis Bullosa 6
20301481 2006
25
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 56
16473856 2006
26
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. 6
15538630 2005
27
Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. 6
11564184 2001
28
Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. 6
10951237 2000
29
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. 56
10827412 2000
30
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. 6
10577906 1999
31
Revertant mosaicism in human genetic disorders. 6
10398261 1999
32
Mutation analysis and molecular genetics of epidermolysis bullosa. 56
10367729 1999
33
Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. 6
9856855 1998
34
Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. 56
9358473 1997
35
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. 6
9242513 1997
36
A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele. 6
9205497 1997
37
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. 6
7698759 1994
38
Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1. 56
7987320 1994
39
Epidermolysis bullosa junctionalis progressiva in three siblings. 56
8494757 1993
40
Epidermolysis bullosa and amniotic bands. 56
6517104 1984
41
Sixteen types of epidermolysis bullosa. On the clinical discrimination, therapy and prenatal diagnosis. 56
6953718 1981
42
Epidermolysis bullosa with unusual features: inversa type. 56
918074 1977
43
Epidermolysis bullosa hereditaria with junctional blistering in an adult. 56
939338 1976
44
Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies. 54 61
16172808 2005
45
A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. 54 61
11912005 2002
46
Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa. 54 61
11952829 2002
47
Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency. 54 61
11244233 2001
48
Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. 54 61
10636730 1999
49
LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels. 54 61
9690563 1998
50
180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. 54 61
9666835 1998

Variations for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

ClinVar genetic disease variations for Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

6 (show top 50) (show all 51) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMC2 NM_005562.3(LAMC2):c.405-1G>ASNV Pathogenic 14560 rs1558088792 1:183187524-183187524 1:183218389-183218389
2 LAMC2 LAMC2, 1-BP INS, 3511Ainsertion Pathogenic 14561
3 ITGB4 NM_000213.5(ITGB4):c.2792G>A (p.Gly931Asp)SNV Pathogenic 14740 rs121912466 17:73738672-73738672 17:75742591-75742591
4 COL17A1 NM_000494.4(COL17A1):c.3676C>T (p.Arg1226Ter)SNV Pathogenic 17645 rs121912769 10:105794469-105794469 10:104034711-104034711
5 COL17A1 COL17A1, 1-BP INS, 4150Ginsertion Pathogenic 17646
6 COL17A1 COL17A1, 5-BP DEL, NT2944deletion Pathogenic 17647
7 COL17A1 NM_000494.4(COL17A1):c.3067C>T (p.Gln1023Ter)SNV Pathogenic 17648 rs121912770 10:105798167-105798167 10:104038409-104038409
8 COL17A1 NM_000494.4(COL17A1):c.1601del (p.Asp534fs)deletion Pathogenic 17649 10:105815626-105815626 10:104055868-104055868
9 COL17A1 NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)SNV Pathogenic 17650 rs121912771 10:105793951-105793951 10:104034193-104034193
10 COL17A1 NM_000494.4(COL17A1):c.2336-1G>TSNV Pathogenic 17652 10:105806532-105806532 10:104046774-104046774
11 COL17A1 COL17A1, 2-BP DEL, 4003TCdeletion Pathogenic 17653
12 COL17A1 COL17A1, 2-BP DEL, 520AGdeletion Pathogenic 17654
13 COL17A1 COL17A1, 1-BP DEL, 2965Gdeletion Pathogenic 17655
14 COL17A1 NM_000494.4(COL17A1):c.2564T>G (p.Leu855Ter)SNV Pathogenic 17656 rs121912772 10:105801284-105801284 10:104041526-104041526
15 COL17A1 NM_000494.4(COL17A1):c.1898G>A (p.Gly633Asp)SNV Pathogenic 17657 rs121912773 10:105812830-105812830 10:104053072-104053072
16 COL17A1 NM_000494.4(COL17A1):c.433C>T (p.Arg145Ter)SNV Pathogenic 17658 rs121912774 10:105831820-105831820 10:104072062-104072062
17 COL17A1 NM_000494.4(COL17A1):c.2407G>T (p.Gly803Ter)SNV Pathogenic 298713 rs752317971 10:105803610-105803610 10:104043852-104043852
18 LAMA3 NM_198129.3(LAMA3):c.8962C>T (p.Gln2988Ter)SNV Pathogenic 8793 rs137852758 18:21519286-21519286 18:23939322-23939322
19 LAMB3 NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)SNV Pathogenic 14539 rs80356682 1:209799066-209799066 1:209625721-209625721
20 LAMB3 NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)SNV Pathogenic 14541 rs80356680 1:209823368-209823368 1:209650023-209650023
21 LAMB3 NM_000228.3(LAMB3):c.904del (p.Trp302fs)deletion Pathogenic 14542 rs786205094 1:209803999-209803999 1:209630654-209630654
22 LAMB3 NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)SNV Pathogenic 14543 rs121912482 1:209806415-209806415 1:209633070-209633070
23 LAMB3 NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs)deletion Pathogenic 14547 rs786205095 1:209800770-209800774 1:209627425-209627429
24 LAMB3 NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)SNV Pathogenic 372402 rs774174881 1:209803197-209803197 1:209629852-209629852
25 LAMB3 NM_000228.3(LAMB3):c.2842del (p.Val948fs)deletion Pathogenic 372403 rs772421306 1:209791864-209791864 1:209618519-209618519
26 COL17A1 NM_000494.4(COL17A1):c.3922del (p.Ser1308fs)deletion Pathogenic 419270 rs1064793760 10:105793937-105793937 10:104034179-104034179
27 COL17A1 NM_000494.4(COL17A1):c.25C>T (p.Arg9Ter)SNV Pathogenic 427173 rs775196743 10:105840407-105840407 10:104080649-104080649
28 LAMA3 NM_198129.3(LAMA3):c.8941C>T (p.Gln2981Ter)SNV Pathogenic 449049 rs772038362 18:21519265-21519265 18:23939301-23939301
29 LAMB3 NM_000228.3(LAMB3):c.76dup (p.Cys26fs)duplication Pathogenic 495060 rs1553281335 1:209823415-209823416 1:209650070-209650071
30 LAMA3 NM_198129.3(LAMA3):c.7654C>T (p.Arg2552Ter)SNV Pathogenic 496811 rs1181742615 18:21495262-21495262 18:23915298-23915298
31 LAMB3 NM_000228.3(LAMB3):c.565-3T>CSNV Pathogenic 14551 rs587776813 1:209806481-209806481 1:209633136-209633136
32 LAMB3 NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln)SNV Pathogenic 14552 rs121912487 1:209806424-209806424 1:209633079-209633079
33 LAMB3 NM_000228.3(LAMB3):c.629-1G>ASNV Pathogenic 14553 rs587776814 1:209806122-209806122 1:209632777-209632777
34 COL17A1 NM_000494.4(COL17A1):c.214C>T (p.Arg72Ter)SNV Pathogenic 585309 rs760094345 10:105836176-105836176 10:104076418-104076418
35 COL17A1 NM_000494.4(COL17A1):c.779del (p.Pro260fs)deletion Pathogenic 804336 10:105823564-105823564 10:104063806-104063806
36 LAMC2 NM_005562.3(LAMC2):c.3454C>T (p.Gln1152Ter)SNV Pathogenic/Likely pathogenic 620535 rs1217053724 1:183212407-183212407 1:183243272-183243272
37 LAMB3 NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)deletion Pathogenic/Likely pathogenic 189004 rs769967565 1:209800847-209800848 1:209627502-209627503
38 COL17A1 NM_000494.4(COL17A1):c.2435-6_2440deldeletion Likely pathogenic 208569 rs797045084 10:105803334-105803345 10:104043576-104043587
39 ITGB4 NM_000213.5(ITGB4):c.5329+2T>CSNV Likely pathogenic 225396 rs762236241 17:73753393-73753393 17:75757312-75757312
40 LAMB3 NM_000228.3(LAMB3):c.1288+1G>TSNV Likely pathogenic 551396 rs1186161867 1:209801379-209801379 1:209628034-209628034
41 COL17A1 NM_000494.4(COL17A1):c.3418+2deldeletion Likely pathogenic 623160 rs775244527 10:105796248-105796248 10:104036490-104036490
42 LAMC2 NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)SNV Likely pathogenic 14559 rs118203901 1:183191316-183191316 1:183222181-183222181
43 COL17A1 NM_000494.4(COL17A1):c.2336-2A>GSNV Likely pathogenic 631624 rs1478395810 10:105806533-105806533 10:104046775-104046775
44 LAMA3 NM_198129.3(LAMA3):c.4246G>A (p.Val1416Met)SNV Conflicting interpretations of pathogenicity 587571 rs77331026 18:21437917-21437917 18:23857953-23857953
45 COL17A1 NM_000494.4(COL17A1):c.2971G>A (p.Val991Met)SNV Conflicting interpretations of pathogenicity 225319 rs138824013 10:105798263-105798263 10:104038505-104038505
46 LAMB3 NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)SNV Uncertain significance 14550 rs121912486 1:209806447-209806447 1:209633102-209633102
47 COL17A1 NM_000494.4(COL17A1):c.415+2T>GSNV Uncertain significance 298750 rs147734242 10:105832966-105832966 10:104073208-104073208
48 COL17A1 NM_000494.4(COL17A1):c.1013T>C (p.Leu338Ser)SNV Uncertain significance 592143 rs61731630 10:105820005-105820005 10:104060247-104060247
49 COL17A1 NM_000494.4(COL17A1):c.2680G>T (p.Gly894Ter)SNV Uncertain significance 631623 rs765873070 10:105800844-105800844 10:104041086-104041086
50 COL17A1 NM_000494.4(COL17A1):c.1687+1G>TSNV Uncertain significance 631625 rs1564679226 10:105815539-105815539 10:104055781-104055781

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

73
# Symbol AA change Variation ID SNP ID
1 COL17A1 p.Ser265Cys VAR_017596
2 COL17A1 p.Gly627Val VAR_017598
3 COL17A1 p.Gly633Asp VAR_017599 rs121912773
4 COL17A1 p.Arg1303Gln VAR_017601 rs121912771
5 ITGB4 p.Gly931Asp VAR_011299 rs121912466
6 LAMB3 p.Glu210Lys VAR_004170 rs121912482
7 LAMB3 p.Gly199Ala VAR_037310 rs121912486
8 LAMB3 p.Lys207Gln VAR_037311 rs121912487

Expression for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Search GEO for disease gene expression data for Epidermolysis Bullosa, Junctional, Non-Herlitz Type.

Pathways for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Pathways related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 COL7A1
2
Show member pathways
12.84 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 COL7A1
3
Show member pathways
12.79 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
4
Show member pathways
12.7 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
5
Show member pathways
12.61 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
6
Show member pathways
12.33 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
7
Show member pathways
12.32 PLEC LAMC2 LAMB3 LAMA3 ITGB4 DST
8
Show member pathways
12.28 PLEC LAMC2 LAMB3 LAMA3 ITGB4 DST
9
Show member pathways
12.07 LAMC2 LAMB3 LAMA4 LAMA3
10
Show member pathways
11.93 PLEC LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
11
Show member pathways
11.91 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
12
Show member pathways
11.9 LAMA4 LAMA3 ITGB4
13 11.77 LAMC2 LAMB3 LAMA4 LAMA3
14
Show member pathways
11.76 PLEC KRT14 DST
15 11.7 LAMC2 LAMB3 LAMA4 LAMA3
16 11.45 LAMC2 LAMB3 LAMA4 LAMA3
17 11.12 LAMA3 ITGB4
18 11.07 ITGB4 COL17A1
19 10.7 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 COL7A1

GO Terms for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Cellular components related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.63 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1
2 microtubule plus-end GO:0035371 9.32 DST CKAP5
3 laminin-5 complex GO:0005610 9.26 LAMB3 LAMA3
4 hemidesmosome GO:0030056 9.26 PLEC ITGB4 DST COL17A1
5 basement membrane GO:0005604 9.23 LAMC2 LAMB3 LAMA4 LAMA3 LAD1 DST

Biological processes related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 DST
2 extracellular matrix organization GO:0030198 9.7 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 COL7A1
3 animal organ morphogenesis GO:0009887 9.63 LAMC2 LAMB3 LAMA3
4 integrin-mediated signaling pathway GO:0007229 9.58 LAMA3 ITGB4 DST
5 tissue development GO:0009888 9.54 LAMC2 LAMB3 LAMA3
6 brown fat cell differentiation GO:0050873 9.51 LAMB3 LAMA4
7 endodermal cell differentiation GO:0035987 9.5 LAMB3 LAMA3 COL7A1
8 cell motility GO:0048870 9.49 ITGB4 DST
9 intermediate filament cytoskeleton organization GO:0045104 9.48 PLEC DST
10 regulation of embryonic development GO:0045995 9.43 LAMA4 LAMA3
11 epidermis development GO:0008544 9.43 LAMC2 LAMB3 LAMA3 KRT14 COL7A1 COL17A1
12 hemidesmosome assembly GO:0031581 9.23 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4

Molecular functions related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.33 LAMB3 LAMA3 LAD1
2 integrin binding GO:0005178 9.26 LAMB3 LAMA3 ITGB4 DST
3 extracellular matrix structural constituent GO:0005201 9.02 LAMC2 LAMB3 LAMA4 LAMA3 COL17A1

Sources for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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