GABEB
MCID: EPD062
MIFTS: 52

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 58 54 41
Gabeb 58 12 54 60 76 56
Generalized Atrophic Benign Epidermolysis Bullosa 12 54 60 76
Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type 12 54 60
Junctional Epidermolysis Bullosa Generalisata Mitis 12 54 60
Junctional Epidermolysis Bullosa, Disentis Type 12 54 60
Jeb-Nh Gen 12 54 60
Jen-Nh 12 54 60
Junctional Epidermolysis Bullosa, Generalized Intermediate 54 60
Epidermolysis Bullosa, Junctional, Localisata Variant 58 6
Epidermolysis Bullosa Junctionalis, Non-Herlitz Type 58 54
Epidermolysis Bullosa, Generalized Atrophic Benign 58 13
Junctional Epidermolysis Bullosa, Non-Herlitz Type 54 60
Junctional Epidermolysis Bullosa Non-Herlitz Type 12 15
Jeb, Generalized Intermediate 54 60
Jeb-I 60 74
Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 60
Epidermolysis Bullosa, Generalized Atrophic Benign; Gabeb 58
Junctional Epidermolysis Bullosa Generalized Intermediate 54
Epidermolysis Bullosa Junctionalis, Severe Nonlethal 58
Epidermolysis Bullosa Atrophicans Generalisata Mitis 76
Epidermolysis Bullosa Junctionalis Severe Non-Lethal 76
Generalized Junctional Epidermolysis Bullosa Mitis 76
Epidermolysis Bullosa Junctionalis, Disentis Type 58
Epidermolysis Bullosa Junctionalis Disentis Type 76
Epidermolysis Bullosa Junctionalis, Progressive 58
Epidermolysis Bullosa Junctionalis Progressive 76
Non-Herlitz Junctional Epidermolysis Bullosa 76
Epidermolysis Bullosa Inversa Dystrophica 74
Junctional Epidermolysis Bullosa Inversa 60
Junctional Epidermolysis Bullosa 74
Jeb Generalized Intermediate 54
Non-Herlitz Jeb 54
Inverse Jeb 60
Jeb-Nh Loc 60
Jeb-Nh 54
Ebj-I 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

33
epidermolysis bullosa, junctional, non-herlitz type:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



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

MalaCards based summary : Epidermolysis Bullosa, Junctional, Non-Herlitz Type, also known as gabeb, is related to epidermolysis bullosa, junctional, herlitz type and epidermolysis bullosa simplex with muscular dystrophy. 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 ERK Signaling and Integrin Pathway. Affiliated tissues include skin, and related phenotypes are failure to thrive and nail dystrophy

UniProtKB/Swiss-Prot : 76 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.

Description 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 36)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, junctional, herlitz type 30.7 LAMA3 LAMB3 LAMC2
2 epidermolysis bullosa simplex with muscular dystrophy 30.3 COL17A1 DST PLEC
3 epidermolysis bullosa simplex 30.0 COL17A1 DST ITGB4 PLEC
4 pyloric atresia 29.3 COL17A1 ITGA6 ITGB4 LAD1 LAMC2 PLEC
5 junctional epidermolysis bullosa 29.0 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
6 bullous pemphigoid 29.0 COL17A1 DST ITGA6 ITGB4 LAD1 LAMA3
7 epidermolysis bullosa 28.6 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
8 junctional epidermolysis bullosa inversa 12.7
9 localized junctional epidermolysis bullosa, non-herlitz type 12.7
10 squamous cell carcinoma 10.4
11 amelogenesis imperfecta 10.4
12 muscular dystrophy 10.2
13 pemphigoid gestationis 10.2 COL17A1 DST
14 lichen disease 10.2 COL17A1 DST
15 epidermolysis bullosa simplex with pyloric atresia 10.1 ITGB4 PLEC
16 epithelial basement membrane dystrophy 10.1 COL17A1 PLEC
17 ecthyma 10.1 COL17A1 DST
18 bullous skin disease 10.1 COL17A1 DST LAMA3
19 maternal uniparental disomy of chromosome 1 10.1 LAMA3 LAMB3 LAMC2
20 lichen planus pemphigoides 10.1 COL17A1 DST ITGB4
21 subcorneal pustular dermatosis 10.0 COL17A1 DST
22 cellulitis 10.0 COL17A1 DST LAMA3
23 epidermolysis bullosa dystrophica 9.9 COL7A1 DST
24 paraneoplastic pemphigus 9.9 COL17A1 DST
25 neurotic excoriation 9.9 COL17A1 COL7A1 DST
26 kindler syndrome 9.9 COL7A1 DST ITGB4
27 autoimmune disease of skin and connective tissue 9.8 COL17A1 DST LAMA3 PLEC
28 linear iga disease 9.8 COL17A1 DST ITGB4 LAD1
29 ocular cicatricial pemphigoid 9.8 ITGA6 ITGB4
30 epidermolysis bullosa with pyloric atresia 9.7 ITGA6 ITGB4 PLEC
31 aplasia cutis congenita 9.6 COL7A1 ITGA6 ITGB4
32 epidermolysis bullosa acquisita 9.6 COL17A1 COL7A1 DST ITGB4 LAMA3
33 epidermolysis bullosa junctionalis with pyloric atresia 9.4 COL17A1 DST ITGA6 ITGB4 PLEC
34 cicatricial pemphigoid 9.3 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
35 skin disease 8.5 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
36 vesiculobullous skin disease 8.5 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3

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:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 nail dystrophy 60 33 frequent (33%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0008404
3 growth delay 60 33 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0001510
4 sparse body hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002231
5 abnormality of skin pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001000
6 skin vesicle 60 33 hallmark (90%) Very frequent (99-80%) HP:0200037
7 abnormality of the larynx 60 33 hallmark (90%) Very frequent (99-80%) HP:0001600
8 aplasia cutis congenita 60 33 hallmark (90%) Very frequent (99-80%) HP:0001057
9 absent toenail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001802
10 absent fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001817
11 hypoplasia of dental enamel 60 33 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0006297
12 oral mucosal blisters 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0200097
13 milia 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001056
14 atrophic scars 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001075
15 scarring alopecia of scalp 60 33 hallmark (90%) Very frequent (99-80%) HP:0004552
16 fragile skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001030
17 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
18 skin ulcer 60 33 frequent (33%) Frequent (79-30%) HP:0200042
19 anonychia 60 33 frequent (33%) Frequent (79-30%) HP:0001798
20 hyperpigmentation of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0000953
21 hypopigmentation of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0001010
22 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
23 palmoplantar keratoderma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000982
24 corneal erosion 60 33 occasional (7.5%) Occasional (29-5%) HP:0200020
25 pyloric stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002021
26 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
27 dermal atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0004334
28 urethral obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0000796
29 urinary bladder inflammation 60 33 occasional (7.5%) Occasional (29-5%) HP:0100577
30 carious teeth 33 HP:0000670
31 abnormal blistering of the skin 60 Very frequent (99-80%),Very frequent (99-80%)
32 abnormality of the bladder 60 Occasional (29-5%)
33 hypodontia 33 HP:0000668
34 nail dysplasia 33 HP:0002164
35 camptodactyly of finger 33 HP:0100490
36 fragile nails 33 HP:0001808
37 palmar hyperhidrosis 33 HP:0006089
38 plantar hyperkeratosis 33 HP:0007556

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
hypodontia
dental caries
enamel pitting

Head And Neck Mouth:
oral mucosa blisters

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

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)

Skeletal Hands:
absent dermal ridges
mild finger contractures
palmar hyperhidrosis

Skeletal Feet:
plantar hyperkeratosis

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.8 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
2 growth/size/body region MP:0005378 9.76 COL7A1 ITGA6 ITGB4 LAMA3 LAMA4 LAMB3
3 digestive/alimentary MP:0005381 9.73 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
4 integument MP:0010771 9.56 COL7A1 ITGA6 ITGB4 LAMA3 LAMA4 LAMB3
5 mortality/aging MP:0010768 9.28 COL7A1 ITGA6 ITGB4 LAMA3 LAMA4 LAMB3

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

Search Clinical Trials , 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:

42
Skin

Publications for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

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

(show all 48)
# Title Authors Year
1
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. ( 17476356 )
2007
2
Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. ( 17115047 )
2006
3
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. ( 15538630 )
2005
4
Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies. ( 16172808 )
2005
5
A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel. ( 14614394 )
2003
6
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. ( 11810295 )
2002
7
A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. ( 11912005 )
2002
8
Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa. ( 11952829 )
2002
9
Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. ( 11564184 )
2001
10
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? ( 10792571 )
2000
11
Generalized atrophic benign epidermolysis bullosa--poor prognosis associated with chronic renal failure. ( 10844498 )
2000
12
Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa. ( 10951252 )
2000
13
Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. ( 10951237 )
2000
14
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. ( 10577906 )
1999
15
Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. ( 10636730 )
1999
16
Generalized atrophic benign epidermolysis bullosa: a case of severe hemidesmosomal deficiency. ( 10487006 )
1999
17
Revertant mosaicism in human genetic disorders. ( 10398261 )
1999
18
Role of the bullous pemphigoid antigen 180 (BP180) in the assembly of hemidesmosomes and cell adhesion--reexpression of BP180 in generalized atrophic benign epidermolysis bullosa keratinocytes. ( 9521865 )
1998
19
180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. ( 9666835 )
1998
20
Mosaic expression of uncein, linear IgA bullous dermatosis antigen and 180-kDa bullous pemphigoid antigen in generalized atrophic benign epidermolysis bullosa. ( 9666845 )
1998
21
LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels. ( 9690563 )
1998
22
Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa. ( 9740252 )
1998
23
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. ( 9767254 )
1998
24
The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1. ( 9804354 )
1998
25
Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. ( 9856855 )
1998
26
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. ( 9457913 )
1998
27
A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele. ( 9457914 )
1998
28
Generalized atrophic benign epidermolysis bullosa in 2 siblings complicated by multiple squamous cell carcinomas. ( 9487212 )
1998
29
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. ( 9501007 )
1998
30
American Academy of Dermatology 1997 Awards for Young Investigators in Dermatology. Mutational analysis of the bullous pemphigoid antigen 2/type XVII collagen gene in patients with generalized atrophic benign epidermolysis bullosa. ( 9366826 )
1997
31
Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. ( 9077475 )
1997
32
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. ( 9204958 )
1997
33
Mosaic expression of uncein and 180-kDa bullous pemphigoid antigen in generalized atrophic benign epidermolysis bullosa. ( 9205513 )
1997
34
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. ( 9012408 )
1997
35
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. ( 9038345 )
1997
36
Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. ( 9199555 )
1997
37
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. ( 9205497 )
1997
38
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. ( 9242513 )
1997
39
Generalized atrophic benign epidermolysis bullosa. ( 9551142 )
1997
40
A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. ( 8618019 )
1996
41
Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency. ( 8629821 )
1996
42
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. ( 7550320 )
1995
43
Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa. ( 8535614 )
1995
44
180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. ( 7883981 )
1995
45
Mutations in the laminin 5 LAMB3 gene in generalized atrophic benign epidermolysis bullosa. ( 7490484 )
1995
46
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. ( 7706760 )
1995
47
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. ( 7698759 )
1994
48
Generalized atrophic benign epidermolysis bullosa. ( 7092249 )
1982

Variations for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

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

76
# 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

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

6 (show top 50) (show all 81)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA3 NM_198129.2(LAMA3): c.8962C> T (p.Gln2988Ter) single nucleotide variant Pathogenic rs137852758 GRCh37 Chromosome 18, 21519286: 21519286
2 LAMA3 NM_198129.2(LAMA3): c.8962C> T (p.Gln2988Ter) single nucleotide variant Pathogenic rs137852758 GRCh38 Chromosome 18, 23939322: 23939322
3 LAMB3 NM_000228.2(LAMB3): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs80356682 GRCh37 Chromosome 1, 209799066: 209799066
4 LAMB3 NM_000228.2(LAMB3): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs80356682 GRCh38 Chromosome 1, 209625721: 209625721
5 LAMB3 NM_000228.2(LAMB3): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs80356680 GRCh37 Chromosome 1, 209823368: 209823368
6 LAMB3 NM_000228.2(LAMB3): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs80356680 GRCh38 Chromosome 1, 209650023: 209650023
7 LAMB3 NM_000228.2(LAMB3): c.904delT (p.Trp302Glyfs) deletion Pathogenic rs786205094 GRCh37 Chromosome 1, 209803999: 209803999
8 LAMB3 NM_000228.2(LAMB3): c.904delT (p.Trp302Glyfs) deletion Pathogenic rs786205094 GRCh38 Chromosome 1, 209630654: 209630654
9 LAMB3 NM_000228.2(LAMB3): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121912482 GRCh37 Chromosome 1, 209806415: 209806415
10 LAMB3 NM_000228.2(LAMB3): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121912482 GRCh38 Chromosome 1, 209633070: 209633070
11 LAMB3 NM_000228.2(LAMB3): c.1439_1443delCGTGT (p.Pro480Argfs) deletion Pathogenic rs786205095 GRCh37 Chromosome 1, 209800770: 209800774
12 LAMB3 NM_000228.2(LAMB3): c.1439_1443delCGTGT (p.Pro480Argfs) deletion Pathogenic rs786205095 GRCh38 Chromosome 1, 209627425: 209627429
13 LAMB3 NM_000228.2(LAMB3): c.628+42G> A single nucleotide variant Likely benign rs587776812 GRCh37 Chromosome 1, 209806373: 209806373
14 LAMB3 NM_000228.2(LAMB3): c.628+42G> A single nucleotide variant Likely benign rs587776812 GRCh38 Chromosome 1, 209633028: 209633028
15 LAMB3 NM_000228.2(LAMB3): c.596G> C (p.Gly199Ala) single nucleotide variant Uncertain significance rs121912486 GRCh37 Chromosome 1, 209806447: 209806447
16 LAMB3 NM_000228.2(LAMB3): c.596G> C (p.Gly199Ala) single nucleotide variant Uncertain significance rs121912486 GRCh38 Chromosome 1, 209633102: 209633102
17 LAMB3 NM_000228.2(LAMB3): c.565-3T> C single nucleotide variant Pathogenic rs587776813 GRCh37 Chromosome 1, 209806481: 209806481
18 LAMB3 NM_000228.2(LAMB3): c.565-3T> C single nucleotide variant Pathogenic rs587776813 GRCh38 Chromosome 1, 209633136: 209633136
19 LAMB3 NM_000228.2(LAMB3): c.619A> C (p.Lys207Gln) single nucleotide variant Pathogenic rs121912487 GRCh37 Chromosome 1, 209806424: 209806424
20 LAMB3 NM_000228.2(LAMB3): c.619A> C (p.Lys207Gln) single nucleotide variant Pathogenic rs121912487 GRCh38 Chromosome 1, 209633079: 209633079
21 LAMB3 NM_000228.2(LAMB3): c.629-1G> A single nucleotide variant Pathogenic rs587776814 GRCh37 Chromosome 1, 209806122: 209806122
22 LAMB3 NM_000228.2(LAMB3): c.629-1G> A single nucleotide variant Pathogenic rs587776814 GRCh38 Chromosome 1, 209632777: 209632777
23 LAMC2 NM_005562.2(LAMC2): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs118203901 GRCh37 Chromosome 1, 183191316: 183191316
24 LAMC2 NM_005562.2(LAMC2): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs118203901 GRCh38 Chromosome 1, 183222181: 183222181
25 LAMC2 NM_005562.2(LAMC2): c.405-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 1, 183218389: 183218389
26 LAMC2 NM_005562.2(LAMC2): c.405-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 183187524: 183187524
27 LAMC2 LAMC2, 1-BP INS, 3511A insertion Pathogenic
28 ITGB4 NM_000213.4(ITGB4): c.2792G> A (p.Gly931Asp) single nucleotide variant Pathogenic rs121912466 GRCh37 Chromosome 17, 73738672: 73738672
29 ITGB4 NM_000213.4(ITGB4): c.2792G> A (p.Gly931Asp) single nucleotide variant Pathogenic rs121912466 GRCh38 Chromosome 17, 75742591: 75742591
30 COL17A1 NM_000494.4(COL17A1): c.3676C> T (p.Arg1226Ter) single nucleotide variant Pathogenic rs121912769 GRCh37 Chromosome 10, 105794469: 105794469
31 COL17A1 NM_000494.4(COL17A1): c.3676C> T (p.Arg1226Ter) single nucleotide variant Pathogenic rs121912769 GRCh38 Chromosome 10, 104034711: 104034711
32 COL17A1 COL17A1, 1-BP INS, 4150G insertion Pathogenic
33 COL17A1 COL17A1, 5-BP DEL, NT2944 deletion Pathogenic
34 COL17A1 NM_000494.4(COL17A1): c.3067C> T (p.Gln1023Ter) single nucleotide variant Pathogenic rs121912770 GRCh37 Chromosome 10, 105798167: 105798167
35 COL17A1 NM_000494.4(COL17A1): c.3067C> T (p.Gln1023Ter) single nucleotide variant Pathogenic rs121912770 GRCh38 Chromosome 10, 104038409: 104038409
36 COL17A1 COL17A1, 1-BP DEL, 1706A deletion Pathogenic
37 COL17A1 NM_000494.4(COL17A1): c.3908G> A (p.Arg1303Gln) single nucleotide variant Pathogenic rs121912771 GRCh37 Chromosome 10, 105793951: 105793951
38 COL17A1 NM_000494.4(COL17A1): c.3908G> A (p.Arg1303Gln) single nucleotide variant Pathogenic rs121912771 GRCh38 Chromosome 10, 104034193: 104034193
39 COL17A1 COL17A1, IVS31AS, A-G, -2 single nucleotide variant Pathogenic
40 COL17A1 COL17A1, IVS31AS, G-T, -1 single nucleotide variant Pathogenic
41 COL17A1 COL17A1, 2-BP DEL, 4003TC deletion Pathogenic
42 COL17A1 COL17A1, 2-BP DEL, 520AG deletion Pathogenic
43 COL17A1 COL17A1, 1-BP DEL, 2965G deletion Pathogenic
44 COL17A1 NM_000494.4(COL17A1): c.2564T> G (p.Leu855Ter) single nucleotide variant Pathogenic rs121912772 GRCh37 Chromosome 10, 105801284: 105801284
45 COL17A1 NM_000494.4(COL17A1): c.2564T> G (p.Leu855Ter) single nucleotide variant Pathogenic rs121912772 GRCh38 Chromosome 10, 104041526: 104041526
46 COL17A1 NM_000494.4(COL17A1): c.1898G> A (p.Gly633Asp) single nucleotide variant Pathogenic rs121912773 GRCh37 Chromosome 10, 105812830: 105812830
47 COL17A1 NM_000494.4(COL17A1): c.1898G> A (p.Gly633Asp) single nucleotide variant Pathogenic rs121912773 GRCh38 Chromosome 10, 104053072: 104053072
48 COL17A1 NM_000494.4(COL17A1): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs121912774 GRCh37 Chromosome 10, 105831820: 105831820
49 COL17A1 NM_000494.4(COL17A1): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs121912774 GRCh38 Chromosome 10, 104072062: 104072062
50 LAMB3 NM_000228.2(LAMB3): c.1365_1366delCA (p.Asn456Argfs) deletion Pathogenic/Likely pathogenic rs769967565 GRCh38 Chromosome 1, 209627502: 209627503

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMA4
2
Show member pathways
13.25 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMA4
3
Show member pathways
12.9 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMA4
4
Show member pathways
12.87 ITGA6 ITGB4 LAMA3 LAMA4 LAMB3 LAMC2
5
Show member pathways
12.79 ITGA6 ITGB4 LAMA3 LAMA4 LAMB3 LAMC2
6 12.71 ITGA6 LAMA3 LAMA4 LAMB3 LAMC2
7
Show member pathways
12.7 ITGA6 ITGB4 LAMA3 LAMA4 LAMB3 LAMC2
8
Show member pathways
12.38 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
9
Show member pathways
12.37 ITGA6 ITGB4 LAMA3 LAMA4 LAMB3 LAMC2
10
Show member pathways
12.33 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
11
Show member pathways
12.15 ITGA6 LAMA3 LAMA4 LAMB3 LAMC2
12
Show member pathways
12.03 ITGA6 ITGB4 LAMA3 LAMA4 LAMB3 LAMC2
13
Show member pathways
12.03 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMA4
14
Show member pathways
11.98 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
15 11.86 ITGA6 ITGB4 PLEC
16 11.82 LAMA3 LAMA4 LAMB3 LAMC2
17 11.82 ITGA6 LAMA3 LAMA4 LAMB3 LAMC2
18 11.58 LAMA3 LAMA4 LAMB3 LAMC2
19 11.35 ITGA6 ITGB4 LAMA4
20 11.23 COL17A1 ITGA6 ITGB4
21 11.14 ITGB4 LAMA3
23 10.76 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMA4

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 extracellular region GO:0005576 9.91 COL17A1 COL7A1 LAD1 LAMA3 LAMA4 LAMB3
2 focal adhesion GO:0005925 9.62 DST ITGA6 ITGB4 PLEC
3 collagen-containing extracellular matrix GO:0062023 9.55 COL17A1 COL7A1 LAMA3 LAMA4 LAMC2
4 cell leading edge GO:0031252 9.46 DST ITGB4
5 basal plasma membrane GO:0009925 9.43 DST ITGA6
6 integrin complex GO:0008305 9.4 ITGA6 ITGB4
7 hemidesmosome GO:0030056 9.35 COL17A1 DST ITGA6 ITGB4 PLEC
8 basement membrane GO:0005604 9.28 COL17A1 COL7A1 DST ITGA6 LAD1 LAMA3
9 laminin-5 complex GO:0005610 9.26 LAMA3 LAMB3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.76 COL7A1 DST ITGA6 ITGB4 LAMA3 LAMA4
2 cell-matrix adhesion GO:0007160 9.65 COL17A1 ITGA6 ITGB4
3 epidermis development GO:0008544 9.65 COL17A1 COL7A1 LAMA3 LAMB3 LAMC2
4 integrin-mediated signaling pathway GO:0007229 9.63 DST ITGA6 ITGB4
5 skin development GO:0043588 9.57 ITGA6 ITGB4
6 regulation of cell adhesion GO:0030155 9.56 LAMA3 LAMA4
7 extracellular matrix organization GO:0030198 9.56 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMA4
8 digestive tract development GO:0048565 9.55 ITGA6 ITGB4
9 cell motility GO:0048870 9.54 DST ITGB4
10 endodermal cell differentiation GO:0035987 9.54 COL7A1 LAMA3 LAMB3
11 intermediate filament cytoskeleton organization GO:0045104 9.52 DST PLEC
12 renal system development GO:0072001 9.51 ITGA6 ITGB4
13 brown fat cell differentiation GO:0050873 9.5 ITGA6 LAMA4 LAMB3
14 regulation of embryonic development GO:0045995 9.49 LAMA3 LAMA4
15 amelogenesis GO:0097186 9.43 ITGA6 ITGB4
16 nail development GO:0035878 9.4 ITGA6 ITGB4
17 hemidesmosome assembly GO:0031581 9.23 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.32 COL17A1 COL7A1
2 insulin-like growth factor I binding GO:0031994 9.26 ITGA6 ITGB4
3 extracellular matrix structural constituent GO:0005201 9.26 COL17A1 LAMA3 LAMA4 LAMC2
4 neuregulin binding GO:0038132 9.16 ITGA6 ITGB4
5 structural molecule activity GO:0005198 9.02 DST LAD1 LAMA3 LAMB3 PLEC

Sources for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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