MCID: EPD062
MIFTS: 51

Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Oral 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 57 53 40
Gabeb 57 12 53 59 75 55
Generalized Atrophic Benign Epidermolysis Bullosa 12 53 59 75
Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type 12 53 59
Junctional Epidermolysis Bullosa Generalisata Mitis 12 53 59
Junctional Epidermolysis Bullosa, Disentis Type 12 53 59
Jeb-Nh Gen 12 53 59
Jen-Nh 12 53 59
Junctional Epidermolysis Bullosa, Generalized Intermediate 53 59
Epidermolysis Bullosa, Junctional, Localisata Variant 57 6
Epidermolysis Bullosa Junctionalis, Non-Herlitz Type 57 53
Epidermolysis Bullosa, Generalized Atrophic Benign 57 13
Junctional Epidermolysis Bullosa, Non-Herlitz Type 53 59
Junctional Epidermolysis Bullosa Non-Herlitz Type 12 15
Jeb, Generalized Intermediate 53 59
Jeb-I 59 73
Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 59
Epidermolysis Bullosa, Generalized Atrophic Benign; Gabeb 57
Epidermolysis Bullosa Junctionalis, Severe Nonlethal 57
Epidermolysis Bullosa Atrophicans Generalisata Mitis 75
Epidermolysis Bullosa Junctionalis Severe Non-Lethal 75
Generalized Junctional Epidermolysis Bullosa Mitis 75
Epidermolysis Bullosa Junctionalis, Disentis Type 57
Epidermolysis Bullosa Junctionalis Disentis Type 75
Epidermolysis Bullosa Junctionalis, Progressive 57
Epidermolysis Bullosa Junctionalis Progressive 75
Non-Herlitz Junctional Epidermolysis Bullosa 75
Epidermolysis Bullosa Inversa Dystrophica 73
Junctional Epidermolysis Bullosa Inversa 59
Junctional Epidermolysis Bullosa 73
Inverse Jeb 59
Jeb-Nh Loc 59
Jeb-Nh 53
Ebj-I 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

32
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 junctional epidermolysis bullosa and epidermolysis bullosa. 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 renal insufficiency and hydronephrosis

UniProtKB/Swiss-Prot : 75 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 related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 junctional epidermolysis bullosa 28.4 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
2 epidermolysis bullosa 26.6 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
3 junctional epidermolysis bullosa inversa 12.5
4 localized junctional epidermolysis bullosa, non-herlitz type 12.5
5 pemphigoid gestationis 10.3 COL17A1 DST
6 epidermolysis bullosa simplex with pyloric atresia 10.3 ITGB4 PLEC
7 herpes gestationis 10.3 COL17A1 DST
8 squamous cell carcinoma 10.3
9 maternal uniparental disomy of chromosome 1 10.2 LAMA3 LAMB3 LAMC2
10 lichen planus pemphigoides 10.2 COL17A1 DST ITGB4
11 epidermolysis bullosa, junctional, herlitz type 10.2 LAMA3 LAMB3 LAMC2
12 ecthyma 10.1 COL17A1 DST
13 epidermolysis bullosa simplex with muscular dystrophy 10.0 COL17A1 DST PLEC
14 epidermolysis bullosa with pyloric atresia 9.9 ITGA6 ITGB4 PLEC
15 paraneoplastic pemphigus 9.8 COL17A1 DST
16 neurotic excoriation 9.8 COL17A1 COL7A1 DST
17 epidermolysis bullosa dystrophica 9.8 COL7A1 DST
18 kindler syndrome 9.7 COL7A1 DST ITGB4
19 epidermolysis bullosa simplex 9.7 COL17A1 DST ITGB4 PLEC
20 aplasia cutis congenita 9.5 COL7A1 ITGA6 ITGB4
21 lichen disease 9.5 CD79A COL17A1 DST
22 subcorneal pustular dermatosis 9.5 CD79A COL17A1 DST
23 hypersensitivity reaction disease 9.4 CD79A COL17A1 DST
24 pemphigus 9.4 CD79A COL17A1 DST
25 ocular cicatricial pemphigoid 9.3 CD79A ITGA6 ITGB4
26 bullous skin disease 9.2 CD79A COL17A1 DST LAMA3
27 epidermolysis bullosa junctionalis with pyloric atresia 9.1 COL17A1 DST ITGA6 ITGB4 PLEC
28 autoimmune disease of skin and connective tissue 8.7 CD79A COL17A1 DST LAMA3 PLEC
29 linear iga disease 8.7 CD79A COL17A1 DST ITGB4 LAD1
30 pyloric atresia 8.6 COL17A1 ITGA6 ITGB4 LAD1 LAMC2 PLEC
31 epidermolysis bullosa acquisita 8.1 CD79A COL17A1 COL7A1 DST ITGB4 LAMA3
32 cicatricial pemphigoid 7.9 CD79A COL17A1 DST ITGA6 ITGB4 LAMA3
33 bullous pemphigoid 7.1 CD79A COL17A1 DST ITGA6 ITGB4 LAMA3
34 skin disease 7.0 CD79A COL17A1 COL7A1 DST ITGB4 LAMA3
35 vesiculobullous skin disease 6.4 CD79A COL17A1 COL7A1 DST ITGA6 ITGB4

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
2 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
3 urethral obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0000796
4 hyperpigmentation of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0000953
5 hypopigmentation of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0001010
6 fragile skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001030
7 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
8 growth delay 59 32 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0001510
9 abnormality of the larynx 59 32 hallmark (90%) Very frequent (99-80%) HP:0001600
10 absent toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001802
11 absent fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001817
12 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
13 dermal atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0004334
14 hypoplasia of dental enamel 59 32 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0006297
15 nail dystrophy 59 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0008404
16 urinary bladder inflammation 59 32 occasional (7.5%) Occasional (29-5%) HP:0100577
17 corneal erosion 59 32 occasional (7.5%) Occasional (29-5%) HP:0200020
18 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037
19 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
20 oral mucosal blisters 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0200097
21 palmoplantar keratoderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000982
22 abnormality of skin pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001000
23 milia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001056
24 aplasia cutis congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0001057
25 atrophic scars 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001075
26 anonychia 59 32 frequent (33%) Frequent (79-30%) HP:0001798
27 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
28 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
29 scarring alopecia of scalp 59 32 hallmark (90%) Very frequent (99-80%) HP:0004552
30 abnormality of the bladder 59 Occasional (29-5%)
31 abnormal blistering of the skin 59 Very frequent (99-80%),Very frequent (99-80%)
32 hypodontia 32 HP:0000668
33 carious teeth 32 HP:0000670
34 fragile nails 32 HP:0001808
35 nail dysplasia 32 HP:0002164
36 palmar hyperhidrosis 32 HP:0006089
37 plantar hyperkeratosis 32 HP:0007556
38 camptodactyly of finger 32 HP:0100490

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
2 digestive/alimentary MP:0005381 9.43 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
3 integument MP:0010771 9.17 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2

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:

41
Skin

Publications for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

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

(show all 27)
# Title Authors Year
1
Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies. ( 16172808 )
2005
2
A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel. ( 14614394 )
2003
3
A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. ( 11912005 )
2002
4
Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa. ( 11952829 )
2002
5
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
6
Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. ( 10636730 )
1999
7
Generalized atrophic benign epidermolysis bullosa in 2 siblings complicated by multiple squamous cell carcinomas. ( 9487212 )
1998
8
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
9
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
10
LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels. ( 9690563 )
1998
11
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
12
A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele. ( 9457914 )
1998
13
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
14
180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. ( 9666835 )
1998
15
Mosaic expression of uncein, linear IgA bullous dermatosis antigen and 180-kDa bullous pemphigoid antigen in generalized atrophic benign epidermolysis bullosa. ( 9666845 )
1998
16
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
17
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. ( 9012408 )
1997
18
Generalized atrophic benign epidermolysis bullosa. ( 9551142 )
1997
19
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
20
Mosaic expression of uncein and 180-kDa bullous pemphigoid antigen in generalized atrophic benign epidermolysis bullosa. ( 9205513 )
1997
21
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
22
Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency. ( 8629821 )
1996
23
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
24
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
25
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. ( 7550320 )
1995
26
180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. ( 7883981 )
1995
27
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. ( 7706760 )
1995

Variations for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

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

75
# 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 66)
# 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.904delT (p.Trp302Glyfs) deletion Pathogenic rs786205094 GRCh37 Chromosome 1, 209803999: 209803999
6 LAMB3 NM_000228.2(LAMB3): c.904delT (p.Trp302Glyfs) deletion Pathogenic rs786205094 GRCh38 Chromosome 1, 209630654: 209630654
7 LAMB3 NM_000228.2(LAMB3): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121912482 GRCh37 Chromosome 1, 209806415: 209806415
8 LAMB3 NM_000228.2(LAMB3): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121912482 GRCh38 Chromosome 1, 209633070: 209633070
9 LAMB3 NM_000228.2(LAMB3): c.1439_1443delCGTGT (p.Pro480Argfs) deletion Pathogenic rs786205095 GRCh37 Chromosome 1, 209800770: 209800774
10 LAMB3 NM_000228.2(LAMB3): c.1439_1443delCGTGT (p.Pro480Argfs) deletion Pathogenic rs786205095 GRCh38 Chromosome 1, 209627425: 209627429
11 LAMB3 NM_000228.2(LAMB3): c.628+42G> A single nucleotide variant Pathogenic rs587776812 GRCh37 Chromosome 1, 209806373: 209806373
12 LAMB3 NM_000228.2(LAMB3): c.628+42G> A single nucleotide variant Pathogenic rs587776812 GRCh38 Chromosome 1, 209633028: 209633028
13 LAMB3 NM_000228.2(LAMB3): c.596G> C (p.Gly199Ala) single nucleotide variant Pathogenic rs121912486 GRCh37 Chromosome 1, 209806447: 209806447
14 LAMB3 NM_000228.2(LAMB3): c.596G> C (p.Gly199Ala) single nucleotide variant Pathogenic rs121912486 GRCh38 Chromosome 1, 209633102: 209633102
15 LAMB3 NM_000228.2(LAMB3): c.565-3T> C single nucleotide variant Pathogenic rs587776813 GRCh37 Chromosome 1, 209806481: 209806481
16 LAMB3 NM_000228.2(LAMB3): c.565-3T> C single nucleotide variant Pathogenic rs587776813 GRCh38 Chromosome 1, 209633136: 209633136
17 LAMB3 NM_000228.2(LAMB3): c.619A> C (p.Lys207Gln) single nucleotide variant Pathogenic rs121912487 GRCh37 Chromosome 1, 209806424: 209806424
18 LAMB3 NM_000228.2(LAMB3): c.619A> C (p.Lys207Gln) single nucleotide variant Pathogenic rs121912487 GRCh38 Chromosome 1, 209633079: 209633079
19 LAMB3 NM_000228.2(LAMB3): c.629-1G> A single nucleotide variant Pathogenic rs587776814 GRCh37 Chromosome 1, 209806122: 209806122
20 LAMB3 NM_000228.2(LAMB3): c.629-1G> A single nucleotide variant Pathogenic rs587776814 GRCh38 Chromosome 1, 209632777: 209632777
21 LAMC2 NM_005562.2(LAMC2): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs118203901 GRCh37 Chromosome 1, 183191316: 183191316
22 LAMC2 NM_005562.2(LAMC2): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs118203901 GRCh38 Chromosome 1, 183222181: 183222181
23 LAMC2 LAMC2, IVS3, G-A, -1 single nucleotide variant Pathogenic
24 LAMC2 LAMC2, 1-BP INS, 3511A insertion Pathogenic
25 ITGB4 NM_000213.4(ITGB4): c.2792G> A (p.Gly931Asp) single nucleotide variant Pathogenic rs121912466 GRCh37 Chromosome 17, 73738672: 73738672
26 ITGB4 NM_000213.4(ITGB4): c.2792G> A (p.Gly931Asp) single nucleotide variant Pathogenic rs121912466 GRCh38 Chromosome 17, 75742591: 75742591
27 COL17A1 COL17A1, 1-BP DEL, 2965G deletion Pathogenic
28 COL17A1 NM_000494.3(COL17A1): c.3676C> T (p.Arg1226Ter) single nucleotide variant Pathogenic rs121912769 GRCh37 Chromosome 10, 105794469: 105794469
29 COL17A1 NM_000494.3(COL17A1): c.3676C> T (p.Arg1226Ter) single nucleotide variant Pathogenic rs121912769 GRCh38 Chromosome 10, 104034711: 104034711
30 COL17A1 COL17A1, 1-BP INS, 4150G insertion Pathogenic
31 COL17A1 COL17A1, 5-BP DEL, NT2944 deletion Pathogenic
32 COL17A1 NM_000494.3(COL17A1): c.3067C> T (p.Gln1023Ter) single nucleotide variant Pathogenic rs121912770 GRCh37 Chromosome 10, 105798167: 105798167
33 COL17A1 NM_000494.3(COL17A1): c.3067C> T (p.Gln1023Ter) single nucleotide variant Pathogenic rs121912770 GRCh38 Chromosome 10, 104038409: 104038409
34 COL17A1 COL17A1, 1-BP DEL, 1706A deletion Pathogenic
35 COL17A1 NM_000494.3(COL17A1): c.3908G> A (p.Arg1303Gln) single nucleotide variant Pathogenic rs121912771 GRCh37 Chromosome 10, 105793951: 105793951
36 COL17A1 NM_000494.3(COL17A1): c.3908G> A (p.Arg1303Gln) single nucleotide variant Pathogenic rs121912771 GRCh38 Chromosome 10, 104034193: 104034193
37 COL17A1 COL17A1, IVS31AS, A-G, -2 single nucleotide variant Pathogenic
38 COL17A1 COL17A1, IVS31AS, G-T, -1 single nucleotide variant Pathogenic
39 COL17A1 COL17A1, 2-BP DEL, 4003TC deletion Pathogenic
40 COL17A1 COL17A1, 2-BP DEL, 520AG deletion Pathogenic
41 COL17A1 NM_000494.3(COL17A1): c.2564T> G (p.Leu855Ter) single nucleotide variant Pathogenic rs121912772 GRCh37 Chromosome 10, 105801284: 105801284
42 COL17A1 NM_000494.3(COL17A1): c.2564T> G (p.Leu855Ter) single nucleotide variant Pathogenic rs121912772 GRCh38 Chromosome 10, 104041526: 104041526
43 COL17A1 NM_000494.3(COL17A1): c.1898G> A (p.Gly633Asp) single nucleotide variant Pathogenic rs121912773 GRCh37 Chromosome 10, 105812830: 105812830
44 COL17A1 NM_000494.3(COL17A1): c.1898G> A (p.Gly633Asp) single nucleotide variant Pathogenic rs121912773 GRCh38 Chromosome 10, 104053072: 104053072
45 COL17A1 NM_000494.3(COL17A1): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs121912774 GRCh37 Chromosome 10, 105831820: 105831820
46 COL17A1 NM_000494.3(COL17A1): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs121912774 GRCh38 Chromosome 10, 104072062: 104072062
47 LAMB3 NM_000228.2(LAMB3): c.1365_1366delCA (p.Asn456Argfs) deletion Pathogenic/Likely pathogenic rs769967565 GRCh38 Chromosome 1, 209627502: 209627503
48 LAMB3 NM_000228.2(LAMB3): c.1365_1366delCA (p.Asn456Argfs) deletion Pathogenic/Likely pathogenic rs769967565 GRCh37 Chromosome 1, 209800847: 209800848
49 COL17A1 NM_000494.3(COL17A1): c.2435-6_2440delTTTCAGAGGGGT deletion Likely pathogenic rs797045084 GRCh37 Chromosome 10, 105803334: 105803345
50 COL17A1 NM_000494.3(COL17A1): c.2435-6_2440delTTTCAGAGGGGT deletion Likely pathogenic rs797045084 GRCh38 Chromosome 10, 104043576: 104043587

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
13.62 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3
2
Show member pathways
13.16 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3
3
Show member pathways
12.81 CD79A COL17A1 COL7A1 ITGA6 ITGB4 LAMA3
4
Show member pathways
12.77 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
5
Show member pathways
12.7 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
6 12.61 ITGA6 LAMA3 LAMB3 LAMC2
7
Show member pathways
12.61 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
8
Show member pathways
12.38 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
9
Show member pathways
12.33 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
10
Show member pathways
12.15 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
11
Show member pathways
12.07 ITGA6 LAMA3 LAMB3 LAMC2
12
Show member pathways
11.94 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
13
Show member pathways
11.93 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
14
Show member pathways
11.9 ITGA6 ITGB4 LAMA3
15 11.83 ITGA6 ITGB4 PLEC
16 11.72 LAMA3 LAMB3 LAMC2
17 11.7 ITGA6 LAMA3 LAMB3 LAMC2
18 11.49 LAMA3 LAMB3 LAMC2
19
Show member pathways
11.48 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
20 11.21 ITGA6 ITGB4
21 11.13 ITGB4 LAMA3
22 11.12 COL17A1 ITGA6 ITGB4

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 cell leading edge GO:0031252 9.37 DST ITGB4
2 hemidesmosome GO:0030056 9.35 COL17A1 DST ITGA6 ITGB4 PLEC
3 basal plasma membrane GO:0009925 9.32 DST ITGA6
4 integrin complex GO:0008305 9.26 ITGA6 ITGB4
5 basement membrane GO:0005604 9.23 COL17A1 COL7A1 DST ITGA6 LAD1 LAMA3
6 laminin-5 complex GO:0005610 9.16 LAMA3 LAMB3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 COL7A1 DST ITGA6 ITGB4 LAMA3 LAMB3
2 cell-matrix adhesion GO:0007160 9.65 COL17A1 ITGA6 ITGB4
3 integrin-mediated signaling pathway GO:0007229 9.63 DST ITGA6 ITGB4
4 extracellular matrix disassembly GO:0022617 9.58 LAMA3 LAMB3 LAMC2
5 skin development GO:0043588 9.55 ITGA6 ITGB4
6 epidermis development GO:0008544 9.55 COL17A1 COL7A1 LAMA3 LAMB3 LAMC2
7 digestive tract development GO:0048565 9.54 ITGA6 ITGB4
8 brown fat cell differentiation GO:0050873 9.52 ITGA6 LAMB3
9 cell motility GO:0048870 9.51 DST ITGB4
10 endodermal cell differentiation GO:0035987 9.5 COL7A1 LAMA3 LAMB3
11 renal system development GO:0072001 9.49 ITGA6 ITGB4
12 amelogenesis GO:0097186 9.43 ITGA6 ITGB4
13 extracellular matrix organization GO:0030198 9.43 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
14 nail development GO:0035878 9.37 ITGA6 ITGB4
15 hemidesmosome assembly GO:0031581 9.17 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2

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 LAD1 LAMA3 LAMB3
2 insulin-like growth factor I binding GO:0031994 8.96 ITGA6 ITGB4
3 neuregulin binding GO:0038132 8.62 ITGA6 ITGB4

Sources for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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