GABEB
MCID: JNC005
MIFTS: 39

Junctional Epidermolysis Bullosa Non-Herlitz Type (GABEB)

Categories: Genetic diseases, Skin diseases
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Aliases & Classifications for Junctional Epidermolysis Bullosa Non-Herlitz Type

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

Name: Junctional Epidermolysis Bullosa Non-Herlitz Type 11 14
Junctional Epidermolysis Bullosa, Non-Herlitz Type 28 5
Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type 11
Junctional Epidermolysis Bullosa Generalisata Mitis 11
Epidermolysis Bullosa, Junctional, Non-Herlitz Type 38
Generalized Atrophic Benign Epidermolysis Bullosa 11
Junctional Epidermolysis Bullosa, Disentis Type 11
Jeb-Nh Gen 11
Jen-Nh 11
Gabeb 11

Classifications:



External Ids:

Disease Ontology 11 DOID:0060738
ICD10 31 Q81.8

Summaries for Junctional Epidermolysis Bullosa Non-Herlitz Type

Disease Ontology: 11 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: Junctional Epidermolysis Bullosa Non-Herlitz Type, also known as junctional epidermolysis bullosa, non-herlitz type, is related to epidermolysis bullosa, junctional 4, intermediate and epidermolysis bullosa, junctional 1a, intermediate. An important gene associated with Junctional Epidermolysis Bullosa Non-Herlitz Type is LAMB3 (Laminin Subunit Beta 3), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, and related phenotypes are no effect and no effect

Related Diseases for Junctional Epidermolysis Bullosa Non-Herlitz Type

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, junctional 4, intermediate 32.3 LAMB3 DST COL17A1
2 epidermolysis bullosa, junctional 1a, intermediate 32.0 LAMC2 LAMB3 LAMA3 ITGB4 GALK1 COL17A1
3 pemphigoid 31.0 PLEC LAMA3 ITGB4 DST COL17A1
4 bullous pemphigoid 30.3 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4
5 epidermolysis bullosa, junctional 1b, severe 30.1 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1
6 cicatricial pemphigoid 30.1 LAMC2 LAMA3 ITGB4 DST COL17A1
7 skin disease 29.5 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4
8 epidermolysis bullosa 29.4 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4
9 recessive dystrophic epidermolysis bullosa 29.3 PLEC LAMB3 LAMA4 LAMA3 KRT14 DST
10 junctional epidermolysis bullosa 29.1 PLEC LAMC2 LAMB3 LAMA4 LAMA3 KRT14
11 epidermolysis bullosa dystrophica 28.8 PLEC LAMC2 LAMB3 LAMA4 LAMA3 KRT14
12 epithelial recurrent erosion dystrophy 10.8
13 alopecia 10.8
14 melanoma in congenital melanocytic nevus 10.5
15 leukocyte adhesion deficiency, type i 10.4
16 melanoma 10.4
17 squamous cell carcinoma 10.4
18 ceroid lipofuscinosis, neuronal, 5 10.2
19 ataxia with vitamin e deficiency 10.2
20 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.2
21 kidney disease 10.2
22 chronic kidney disease 10.2
23 amyloidosis 10.2
24 alopecia areata 10.2
25 inherited epidermolysis bullosa 10.2
26 pemphigus gestationis 10.2 DST COL17A1
27 epidermolysis bullosa, junctional 5a, intermediate 10.2 ITGB4 GALK1
28 pseudomembranous conjunctivitis 10.2 DST COL17A1
29 epidermolysis bullosa simplex 5c, with pyloric atresia 10.2 PLEC ITGB4
30 iga pemphigus 10.2 DST COL17A1
31 pompholyx 10.2 DST COL17A1
32 acute laryngopharyngitis 10.2 DST COL17A1
33 pemphigoid gestationis 10.2 DST COL17A1
34 epithelial and subepithelial dystrophy 10.1 PLEC COL17A1
35 scabies 10.1 DST COL17A1
36 heimler syndrome 1 10.1 LAMA4 LAMA3
37 nail disorder, nonsyndromic congenital, 8 10.1 LAMA3 COL7A1
38 mite infestation 10.1 DST COL17A1
39 epidermolysis bullosa simplex 5b, with muscular dystrophy 10.1 PLEC DST
40 epithelial basement membrane dystrophy 10.1 PLEC ITGB4 COL17A1
41 aplasia cutis congenita 10.1 PLEC ITGB4
42 epidermolysis bullosa with pyloric atresia 10.1 PLEC ITGB4 GALK1
43 ciliary dyskinesia, primary, 5 10.1 LAMA4 LAMA3
44 lichen planus 10.1 LAMC2 DST COL17A1
45 paraneoplastic pemphigus 10.0 PLEC DST COL17A1
46 nail disorder, nonsyndromic congenital, 4 10.0 COL7A1 COL17A1
47 neurotic excoriation 10.0 DST COL7A1 COL17A1
48 pyloric atresia 10.0 PLEC LAMC2 ITGB4 COL17A1
49 lichen disease 10.0 DST COL17A1
50 epidermolysis bullosa simplex 1c, localized 10.0 KRT14 ITGB4 GALK1

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



Diseases related to Junctional Epidermolysis Bullosa Non-Herlitz Type

Symptoms & Phenotypes for Junctional Epidermolysis Bullosa Non-Herlitz Type

GenomeRNAi Phenotypes related to Junctional Epidermolysis Bullosa Non-Herlitz Type according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10 COL17A1 COL7A1 DGAT2L6 DST GALK1 GDPD2
2 no effect GR00402-S-2 10 COL17A1 DGAT2L6 DST GALK1 KRT14 LAMA3

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 COL17A1 COL7A1 DGAT2L6 DST GDPD2 ITGB4
2 digestive/alimentary MP:0005381 9.91 COL7A1 DST ITGB4 KRT14 LAMA3 LAMB3
3 cellular MP:0005384 9.91 COL17A1 DST GDPD2 ITGB4 KRT14 LAMA4
4 craniofacial MP:0005382 9.87 COL7A1 DST ITGB4 KRT14 LAMA3 LAMB3
5 immune system MP:0005387 9.85 COL17A1 COL7A1 DST ITGB4 KRT14 LAMA3
6 mortality/aging MP:0010768 9.7 COL17A1 COL7A1 DST ITGB4 KRT14 LAMA3
7 integument MP:0010771 9.36 COL17A1 COL7A1 DGAT2L6 DST ITGB4 KRT14

Drugs & Therapeutics for Junctional Epidermolysis Bullosa Non-Herlitz Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicentre, Open-label, Uncontrolled, Pivotal Clinical Trial to Confirm the Efficacy and Safety of Autologous Fibrin-cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified for Restoration of Epidermis in Patients With Junctional Epidermolysis Bullosa Recruiting NCT05111600 Phase 2, Phase 3 Transplantation

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

Genetic Tests for Junctional Epidermolysis Bullosa Non-Herlitz Type

Genetic tests related to Junctional Epidermolysis Bullosa Non-Herlitz Type:

# Genetic test Affiliating Genes
1 Junctional Epidermolysis Bullosa, Non-Herlitz Type 28 LAMB3

Anatomical Context for Junctional Epidermolysis Bullosa Non-Herlitz Type

Organs/tissues related to Junctional Epidermolysis Bullosa Non-Herlitz Type:

MalaCards : Skin

Publications for Junctional Epidermolysis Bullosa Non-Herlitz Type

Articles related to Junctional Epidermolysis Bullosa Non-Herlitz Type:

(show top 50) (show all 81)
# Title Authors PMID Year
1
A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel. 62 5
14614394 2003
2
Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation. 62 5
11406649 2001
3
Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. 62 5
10636730 1999
4
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. 62 5
9767254 1998
5
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. 62 5
9204958 1997
6
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. 62 5
9077475 1997
7
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. 62 5
9038345 1997
8
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. 62 5
7706760 1995
9
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications. 5
28830826 2017
10
Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance. 5
27480391 2017
11
Laminin: loss-of-function studies. 5
27696112 2017
12
Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa. 5
27375110 2016
13
Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3. 5
23278291 2014
14
Japanese case of Herlitz junctional epidermolysis bullosa that initially showed a few blisters on the limited area. 5
24617447 2014
15
Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. 5
22931927 2013
16
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. 5
21357940 2011
17
Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications. 5
19340010 2009
18
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 5
17476356 2007
19
Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. 5
17115047 2006
20
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 5
16473856 2006
21
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. 5
16439963 2006
22
Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII. 5
16354180 2005
23
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. 5
15538630 2005
24
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 5
12813757 2003
25
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. 5
12485428 2002
26
Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. 5
11023379 2000
27
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. 5
10577906 1999
28
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. 5
10484780 1999
29
Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. 5
9856855 1998
30
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. 5
9501007 1998
31
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. 5
9242513 1997
32
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. 5
9205497 1997
33
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. 5
8824879 1996
34
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. 5
7698759 1994
35
Junctional Epidermolysis Bullosa (Non-Herlitz Type). 62
28599695 2017
36
Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature. 62
21624701 2011
37
Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies. 62
16172808 2005
38
Elevated expression and release of tissue-type, but not urokinase-type, plasminogen activator after binding of autoantibodies to bullous pemphigoid antigen 180 in cultured human keratinocytes. 62
15008985 2004
39
Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases. 62
12631245 2003
40
[Junctional epidermolysis bullosa non-Herlitz with urethral affection]. 62
16285293 2003
41
A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. 62
11912005 2002
42
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. 62
11907499 2002
43
Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa. 62
11952829 2002
44
[Large melanocytic nevi in generalized atrophic benign epidermolysis bullosa (epidermolysis bullosa nevi)]. 62
11572074 2001
45
Squamous cell carcinoma in junctional and dystrophic epidermolysis bullosa. 62
11558875 2001
46
Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency. 62
11244233 2001
47
Autoantibodies to BP180 associated with bullous pemphigoid release interleukin-6 and interleukin-8 from cultured human keratinocytes. 62
11069622 2000
48
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. 62
10951252 2000
49
Generalized atrophic benign epidermolysis bullosa--poor prognosis associated with chronic renal failure. 62
10844498 2000
50
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. 62
10469327 1999

Variations for Junctional Epidermolysis Bullosa Non-Herlitz Type

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

5 (show top 50) (show all 288)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAMB3 NM_000228.3(LAMB3):c.904del (p.Trp302fs) DEL Pathogenic
14542 rs786205094 GRCh37: 1:209803999-209803999
GRCh38: 1:209630654-209630654
2 LAMB3 NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) SNV Pathogenic
14543 rs121912482 GRCh37: 1:209806415-209806415
GRCh38: 1:209633070-209633070
3 LAMB3 NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) DEL Pathogenic
14547 rs786205095 GRCh37: 1:209800770-209800774
GRCh38: 1:209627425-209627429
4 LAMB3 NM_000228.3(LAMB3):c.628+42G>A SNV Pathogenic
14549 rs587776812 GRCh37: 1:209806373-209806373
GRCh38: 1:209633028-209633028
5 LAMB3 NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) SNV Pathogenic
14550 rs121912486 GRCh37: 1:209806447-209806447
GRCh38: 1:209633102-209633102
6 LAMB3 NM_000228.3(LAMB3):c.565-3T>C SNV Pathogenic
14551 rs587776813 GRCh37: 1:209806481-209806481
GRCh38: 1:209633136-209633136
7 LAMB3 NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln) SNV Pathogenic
14552 rs121912487 GRCh37: 1:209806424-209806424
GRCh38: 1:209633079-209633079
8 LAMB3 NM_000228.3(LAMB3):c.629-1G>A SNV Pathogenic
14553 rs587776814 GRCh37: 1:209806122-209806122
GRCh38: 1:209632777-209632777
9 LAMB3 NM_000228.3(LAMB3):c.76dup (p.Cys26fs) DUP Pathogenic
495060 rs1553281335 GRCh37: 1:209823415-209823416
GRCh38: 1:209650070-209650071
10 LAMB3 NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) DEL Pathogenic
189004 rs769967565 GRCh37: 1:209800847-209800848
GRCh38: 1:209627502-209627503
11 COL17A1 NM_000494.4(COL17A1):c.3922del (p.Ser1308fs) DEL Pathogenic
419270 rs1064793760 GRCh37: 10:105793937-105793937
GRCh38: 10:104034179-104034179
12 COL17A1 NM_000494.4(COL17A1):c.214C>T (p.Arg72Ter) SNV Pathogenic
585309 rs760094345 GRCh37: 10:105836176-105836176
GRCh38: 10:104076418-104076418
13 LAMB3 NM_000228.3(LAMB3):c.2842del (p.Val948fs) DEL Pathogenic
372403 rs772421306 GRCh37: 1:209791864-209791864
GRCh38: 1:209618519-209618519
14 COL17A1 NM_000494.4(COL17A1):c.25C>T (p.Arg9Ter) SNV Pathogenic
427173 rs775196743 GRCh37: 10:105840407-105840407
GRCh38: 10:104080649-104080649
15 COL17A1 NM_000494.4(COL17A1):c.779del (p.Pro260fs) DEL Pathogenic
804336 rs1589572214 GRCh37: 10:105823564-105823564
GRCh38: 10:104063806-104063806
16 LAMB3 NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) SNV Pathogenic
372402 rs774174881 GRCh37: 1:209803197-209803197
GRCh38: 1:209629852-209629852
17 LAMB3 NM_000228.3(LAMB3):c.1939G>T (p.Glu647Ter) SNV Pathogenic
918057 rs1666408900 GRCh37: 1:209799030-209799030
GRCh38: 1:209625685-209625685
18 LAMB3 NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) SNV Pathogenic
449050 rs747916314 GRCh37: 1:209791389-209791389
GRCh38: 1:209618044-209618044
19 COL17A1 NM_000494.4(COL17A1):c.505C>T (p.Arg169Ter) SNV Pathogenic
1029877 rs1564684815 GRCh37: 10:105830286-105830286
GRCh38: 10:104070528-104070528
20 COL17A1 NM_000494.4(COL17A1):c.4041T>G (p.Tyr1347Ter) SNV Pathogenic
1174485 GRCh37: 10:105793818-105793818
GRCh38: 10:104034060-104034060
21 LAMC2 NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter) SNV Pathogenic
370953 rs201307156 GRCh37: 1:183212338-183212338
GRCh38: 1:183243203-183243203
22 LAMB3 NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter) SNV Pathogenic
1301693 GRCh37: 1:209789951-209789951
GRCh38: 1:209616606-209616606
23 LAMC2 NM_005562.3(LAMC2):c.3451C>T (p.Gln1151Ter) SNV Pathogenic
1332785 GRCh37: 1:183212404-183212404
GRCh38: 1:183243269-183243269
24 LAMC2 NM_005562.3(LAMC2):c.1043del (p.Ile348fs) DEL Pathogenic
1333523 GRCh37: 1:183194832-183194832
GRCh38: 1:183225697-183225697
25 LAMB3 NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) SNV Pathogenic
188764 rs201551805 GRCh37: 1:209799264-209799264
GRCh38: 1:209625919-209625919
26 LAMB3 NM_000228.3(LAMB3):c.565-2A>G SNV Pathogenic
188846 rs370148688 GRCh37: 1:209806480-209806480
GRCh38: 1:209633135-209633135
27 LAMB3 NM_000228.3(LAMB3):c.823-1G>A SNV Pathogenic
1071051 GRCh37: 1:209804081-209804081
GRCh38: 1:209630736-209630736
28 LAMA3 NM_198129.4(LAMA3):c.7654C>T (p.Arg2552Ter) SNV Pathogenic
496811 rs1181742615 GRCh37: 18:21495262-21495262
GRCh38: 18:23915298-23915298
29 LAMA3 NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) SNV Pathogenic
Likely Pathogenic
449049 rs772038362 GRCh37: 18:21519265-21519265
GRCh38: 18:23939301-23939301
30 LAMB3 NM_000228.3(LAMB3):c.31dup (p.Leu11fs) DUP Pathogenic
633285 rs777672897 GRCh37: 1:209823460-209823461
GRCh38: 1:209650115-209650116
31 LAMC2 NM_005562.3(LAMC2):c.1650C>A (p.Cys550Ter) SNV Pathogenic
1687260 GRCh37: 1:183197690-183197690
GRCh38: 1:183228555-183228555
32 LAMB3 NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) SNV Pathogenic
Pathogenic
14539 rs80356682 GRCh37: 1:209799066-209799066
GRCh38: 1:209625721-209625721
33 COL17A1 NM_000494.4(COL17A1):c.2407G>T (p.Gly803Ter) SNV Pathogenic
298713 rs752317971 GRCh37: 10:105803610-105803610
GRCh38: 10:104043852-104043852
34 LAMB3 NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) SNV Pathogenic
Pathogenic
14541 rs80356680 GRCh37: 1:209823368-209823368
GRCh38: 1:209650023-209650023
35 COL17A1 NM_000494.4(COL17A1):c.2336-2A>G SNV Likely Pathogenic
631624 rs1478395810 GRCh37: 10:105806533-105806533
GRCh38: 10:104046775-104046775
36 GALK1, ITGB4 NM_000213.5(ITGB4):c.5218+2T>C SNV Likely Pathogenic
552889 rs780675808 GRCh37: 17:73753190-73753190
GRCh38: 17:75757109-75757109
37 COL17A1 NM_000494.4(COL17A1):c.3595G>T (p.Glu1199Ter) SNV Likely Pathogenic
1339112 GRCh37: 10:105795045-105795045
GRCh38: 10:104035287-104035287
38 COL17A1 NM_000494.4(COL17A1):c.509C>A (p.Ser170Ter) SNV Likely Pathogenic
1339211 GRCh37: 10:105830282-105830282
GRCh38: 10:104070524-104070524
39 COL17A1 NM_000494.4(COL17A1):c.1880del (p.Gly627fs) DEL Likely Pathogenic
1683482 GRCh37: 10:105812848-105812848
GRCh38: 10:104053090-104053090
40 LAMB3 NM_000228.3(LAMB3):c.628+2T>A SNV Likely Pathogenic
1683769 GRCh37: 1:209806413-209806413
GRCh38: 1:209633068-209633068
41 GALK1, ITGB4 NM_000213.5(ITGB4):c.5329+2T>C SNV Likely Pathogenic
225396 rs762236241 GRCh37: 17:73753393-73753393
GRCh38: 17:75757312-75757312
42 LAMC2 NM_005562.3(LAMC2):c.3454C>T (p.Gln1152Ter) SNV Likely Pathogenic
620535 rs1217053724 GRCh37: 1:183212407-183212407
GRCh38: 1:183243272-183243272
43 COL17A1 NM_000494.4(COL17A1):c.3418+2del DEL Likely Pathogenic
623160 rs775244527 GRCh37: 10:105796248-105796248
GRCh38: 10:104036490-104036490
44 LAMB3 NM_000228.3(LAMB3):c.1288+1G>T SNV Likely Pathogenic
551396 rs1186161867 GRCh37: 1:209801379-209801379
GRCh38: 1:209628034-209628034
45 COL17A1 NM_000494.4(COL17A1):c.2435-6_2440del DEL Likely Pathogenic
208569 rs797045084 GRCh37: 10:105803334-105803345
GRCh38: 10:104043576-104043587
46 COL17A1 NM_000494.4(COL17A1):c.681G>C (p.Ala227=) SNV Uncertain Significance
298744 rs756738076 GRCh37: 10:105824281-105824281
GRCh38: 10:104064523-104064523
47 COL17A1 NM_000494.4(COL17A1):c.*558G>C SNV Uncertain Significance
298674 rs572019863 GRCh37: 10:105791435-105791435
GRCh38: 10:104031677-104031677
48 COL17A1 NM_000494.4(COL17A1):c.1587C>T (p.Pro529=) SNV Uncertain Significance
298730 rs376179264 GRCh37: 10:105815640-105815640
GRCh38: 10:104055882-104055882
49 COL17A1 NM_000494.4(COL17A1):c.3825C>A (p.Pro1275=) SNV Uncertain Significance
298690 rs886046684 GRCh37: 10:105794034-105794034
GRCh38: 10:104034276-104034276
50 COL17A1 NM_000494.4(COL17A1):c.1761T>C (p.Pro587=) SNV Uncertain Significance
298724 rs200370596 GRCh37: 10:105813860-105813860
GRCh38: 10:104054102-104054102

Expression for Junctional Epidermolysis Bullosa Non-Herlitz Type

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

Pathways for Junctional Epidermolysis Bullosa Non-Herlitz Type

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 COL7A1
2
Show member pathways
13.21 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 COL7A1
3
Show member pathways
12.9 COL17A1 COL7A1 ITGB4 LAMA3 LAMA4 LAMB3
4
Show member pathways
12.75 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
5
Show member pathways
12.7 ITGB4 LAMA3 LAMA4 LAMB3 LAMC2
6 12.6 LAMC2 LAMB3 LAMA4 LAMA3
7
Show member pathways
12.56 COL17A1 COL7A1 DST ITGB4 LAMA3 LAMB3
8 12.52 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
9
Show member pathways
12.37 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4
10
Show member pathways
12.28 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1
11
Show member pathways
12.25 PLEC LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
12 12.13 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4
13
Show member pathways
12.02 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 COL7A1
14
Show member pathways
11.97 LAMA4 LAMA3 COL7A1
15
Show member pathways
11.89 LAMA4 LAMA3 ITGB4
16 11.78 LAMC2 LAMB3 LAMA4 LAMA3
17 11.49 LAMC2 LAMB3 LAMA4 LAMA3
18 11.14 LAMA3 ITGB4
19 10.82 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 COL7A1
20 10.67 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 COL17A1

GO Terms for Junctional Epidermolysis Bullosa Non-Herlitz Type

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.93 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1
2 anchoring junction GO:0070161 9.67 PLEC ITGB4 DST COL17A1
3 hemidesmosome GO:0030056 9.65 COL17A1 DST ITGB4 LAMA3 PLEC
4 cellular anatomical entity GO:0110165 9.62 PLEC LAMB3 LAMA3 DST
5 laminin-5 complex GO:0005610 9.56 LAMB3 LAMA3
6 basement membrane GO:0005604 9.5 LAMC2 LAMB3 LAMA4 LAMA3 ITGB4 DST

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.93 COL7A1 DST ITGB4 LAMA3 LAMA4 LAMB3
2 integrin-mediated signaling pathway GO:0007229 9.88 LAMA3 ITGB4 DST
3 tissue development GO:0009888 9.85 LAMC2 LAMB3 LAMA3
4 intermediate filament cytoskeleton organization GO:0045104 9.76 PLEC DST
5 endodermal cell differentiation GO:0035987 9.73 LAMB3 LAMA3 COL7A1
6 epidermis development GO:0008544 9.73 LAMC2 LAMB3 LAMA3 KRT14 COL7A1 COL17A1
7 cell motility GO:0048870 9.72 PLEC ITGB4 DST
8 myelination in peripheral nervous system GO:0022011 9.43 PLEC ITGB4
9 hemidesmosome assembly GO:0031581 9.32 PLEC LAMA3 ITGB4 DST COL17A1

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.61 PLEC LAMB3 LAMA3 KRT14 DST
2 extracellular matrix structural constituent GO:0005201 9.32 LAMC2 LAMB3 LAMA4 LAMA3 COL17A1

Sources for Junctional Epidermolysis Bullosa Non-Herlitz Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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