JEB1A
MCID: EPD114
MIFTS: 52

Epidermolysis Bullosa, Junctional 1a, Intermediate (JEB1A)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Epidermolysis Bullosa, Junctional 1a, Intermediate

MalaCards integrated aliases for Epidermolysis Bullosa, Junctional 1a, Intermediate:

Name: Epidermolysis Bullosa, Junctional 1a, Intermediate 57 73
Jeb-I 57 58 71
Epidermolysis Bullosa Junctionalis, Disentis Type 57 5
Generalized Atrophic Benign Epidermolysis Bullosa 58 73
Junctional Epidermolysis Bullosa Inversa 57 58
Jeb1a 57 73
Epidermolysis Bullosa, Junctional 1a, Generalized Intermediate 57
Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type 58
Junctional Epidermolysis Bullosa, Non-Herlitz Localized Type 58
Intermediate Generalized Junctional Epidermolysis Bullosa 58
Epidermolysis Bullosa, Junctional 1a, Non-Herlitz Type 57
Epidermolysis Bullosa Junctionalis, Non-Herlitz Type 57
Epidermolysis Bullosa Junctionalis, Severe Nonlethal 57
Epidermolysis Bullosa Atrophicans Generalisata Mitis 73
Epidermolysis Bullosa Junctionalis Severe Non-Lethal 73
Junctional Epidermolysis Bullosa Generalisata Mitis 58
Generalized Junctional Epidermolysis Bullosa Mitis 73
Epidermolysis Bullosa Junctionalis Disentis Type 73
Epidermolysis Bullosa Junctionalis, Progressive 57
Junctional Epidermolysis Bullosa, Disentis Type 58
Epidermolysis Bullosa Junctionalis Progressive 73
Non-Herlitz Junctional Epidermolysis Bullosa 73
Localized Junctional Epidermolysis Bullosa 58
Epidermolysis Bullosa Inversa Dystrophica 71
Intermediate Generalized Jeb 58
Localized Jeb 58
Jeb Inversa 58
Jeb-Nh Loc 58
Gabeb 73

Characteristics:


Inheritance:

Epidermolysis Bullosa, Junctional 1a, Intermediate: Autosomal recessive 57
Localized Junctional Epidermolysis Bullosa: Autosomal recessive 58
Junctional Epidermolysis Bullosa Inversa: Autosomal recessive 58
Intermediate Generalized Junctional Epidermolysis Bullosa: Autosomal recessive 58

Prevelance:

Localized Junctional Epidermolysis Bullosa: <1/1000000 (Worldwide) 58
Junctional Epidermolysis Bullosa Inversa: <1/1000000 (Worldwide) 58

Age Of Onset:

Localized Junctional Epidermolysis Bullosa: Infancy,Neonatal 58
Junctional Epidermolysis Bullosa Inversa: Infancy,Neonatal 58
Intermediate Generalized Junctional Epidermolysis Bullosa: Neonatal 58

Age Of Death:

Localized Junctional Epidermolysis Bullosa: normal life expectancy 58
Intermediate Generalized Junctional Epidermolysis Bullosa: any age 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
subset of patients have been described as having gabeb (generalized atrophic benign epidermolysis bullosa - see ) phenotype


Classifications:

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


Summaries for Epidermolysis Bullosa, Junctional 1a, Intermediate

OMIM®: 57 Intermediate junctional epidermolysis bullosa 1A (JEB1A) is an autosomal recessive blistering disease of skin and mucous membranes. Generalized trauma-induced blistering occurs from birth. Blistering is less severe than in severe JEB (see 226700), usually without the tendency for developing chronic granulation tissue. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Nail dystrophy or loss and dental enamel defects are present. Scarring or nonscarring alopecia and diffuse hair loss may occur (summary by Has et al., 2020). Blistering does not affect the life span of affected individuals (Pulkkinen and Uitto, 1998; Sybert, 2010). (226650) (Updated 24-Oct-2022)

MalaCards based summary: Epidermolysis Bullosa, Junctional 1a, Intermediate, also known as jeb-i, is related to epidermolysis bullosa, junctional 4, intermediate and epidermolysis bullosa, junctional 5a, intermediate. An important gene associated with Epidermolysis Bullosa, Junctional 1a, Intermediate is LAMB3 (Laminin Subunit Beta 3), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin and eye, and related phenotypes are carious teeth and sparse body hair

Orphanet 58 Localized junctional epidermolysis bullosa: A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.

Intermediate generalized junctional epidermolysis bullosa: A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.

Junctional epidermolysis bullosa inversa: A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.

UniProtKB/Swiss-Prot: 73 A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1A is an autosomal recessive, non-lethal, adult form characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.

Related Diseases for Epidermolysis Bullosa, Junctional 1a, Intermediate

Diseases in the Junctional Epidermolysis Bullosa family:

Epidermolysis Bullosa, Junctional 1a, Intermediate Epidermolysis Bullosa, Junctional 1b, Severe
Epidermolysis Bullosa, Junctional 2a, Intermediate Epidermolysis Bullosa, Junctional 2b, Severe
Epidermolysis Bullosa, Junctional 3a, Intermediate Epidermolysis Bullosa, Junctional 3b, Severe
Epidermolysis Bullosa, Junctional 4, Intermediate Epidermolysis Bullosa, Junctional 5a, Intermediate
Late-Onset Junctional Epidermolysis Bullosa

Diseases related to Epidermolysis Bullosa, Junctional 1a, Intermediate via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, junctional 4, intermediate 31.4 LAMB3 COL17A1
2 epidermolysis bullosa, junctional 5a, intermediate 31.0 ITGB4 GALK1
3 pemphigoid 30.7 LAMA3 ITGB4 COL17A1
4 epidermolysis bullosa, junctional 1b, severe 30.5 LAMC2 LAMB3 LAMA3 COL17A1
5 epidermolysis bullosa with pyloric atresia 30.3 ITGB4 GALK1
6 amelogenesis imperfecta 30.0 LAMB3 LAMA3 COL17A1
7 bullous pemphigoid 29.9 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
8 pyloric atresia 29.8 LAMC2 ITGB4 COL17A1
9 junctional epidermolysis bullosa non-herlitz type 29.7 LAMC2 LAMB3 LAMA3 ITGB4 GALK1 COL17A1
10 epidermolysis bullosa, junctional 5b, with pyloric atresia 29.6 LAMC2 LAMB3 LAMA3 ITGB4 GALK1 COL17A1
11 cicatricial pemphigoid 29.2 LAMC2 LAMA3 ITGB4 COL17A1
12 junctional epidermolysis bullosa 29.0 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
13 epidermolysis bullosa 29.0 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
14 skin disease 29.0 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
15 late-onset localized junctional epidermolysis bullosa-intellectual disability sy 11.7
16 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous 10.9
17 epidermolysis bullosa, junctional 2a, intermediate 10.9
18 epidermolysis bullosa, junctional 2b, severe 10.9
19 epidermolysis bullosa, junctional 3a, intermediate 10.9
20 epidermolysis bullosa, junctional 3b, severe 10.9
21 epidermolysis bullosa, junctional 6, with pyloric atresia 10.9
22 epithelial recurrent erosion dystrophy 10.8
23 alopecia 10.8
24 melanoma in congenital melanocytic nevus 10.5
25 leukocyte adhesion deficiency, type i 10.4
26 melanoma 10.4
27 dilution, pigmentary 10.3
28 iga nephropathy 1 10.3
29 dowling-degos disease 1 10.3
30 iga glomerulonephritis 10.3
31 hypereosinophilic syndrome 10.3
32 erythrokeratoderma ''en cocardes'' 10.3
33 ceroid lipofuscinosis, neuronal, 5 10.2
34 ataxia with vitamin e deficiency 10.2
35 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.2
36 kidney disease 10.2
37 chronic kidney disease 10.2
38 amyloidosis 10.2
39 alopecia areata 10.2
40 inherited epidermolysis bullosa 10.2
41 epidermolysis bullosa, late-onset localized junctional, with mental retardation 10.2
42 epidermolysis bullosa simplex generalized type 9.9 LAMC2 COL17A1
43 transient bullous dermolysis of the newborn 9.9 LAMB3 LAMA3
44 recessive dystrophic epidermolysis bullosa 9.8 LAMB3 LAMA3 COL17A1
45 epithelial basement membrane dystrophy 9.7 ITGB4 COL17A1
46 epidermolysis bullosa simplex 1c, localized 9.7 ITGB4 GALK1
47 epidermolysis bullosa simplex localized type 9.6 ITGB4 GALK1
48 lichen planus 9.6 LAMC2 COL17A1
49 epidermolysis bullosa simplex 9.5 LAMA3 ITGB4 COL17A1
50 kindler syndrome 9.3 LAMB3 LAMA3 ITGB4 COL17A1

Graphical network of the top 20 diseases related to Epidermolysis Bullosa, Junctional 1a, Intermediate:



Diseases related to Epidermolysis Bullosa, Junctional 1a, Intermediate

Symptoms & Phenotypes for Epidermolysis Bullosa, Junctional 1a, Intermediate

Human phenotypes related to Epidermolysis Bullosa, Junctional 1a, Intermediate:

58 30 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000670
2 sparse body hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002231
3 abnormality of skin pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001000
4 milia 58 30 Very rare (1%) Very frequent (99-80%)
Occasional (29-5%)
Very rare (<4-1%)
HP:0001056
5 aplasia cutis congenita 58 30 Occasional (7.5%) Very frequent (99-80%)
Occasional (29-5%)
HP:0001057
6 fragile skin 58 30 Hallmark (90%) Frequent (79-30%)
Very frequent (99-80%)
HP:0001030
7 atrophic scars 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0001075
8 scarring alopecia of scalp 58 30 Occasional (7.5%) Very frequent (99-80%)
Occasional (29-5%)
HP:0004552
9 oral mucosal blisters 58 30 Hallmark (90%) Very frequent (99-80%)
Occasional (29-5%)
HP:0200097
10 anemia 58 30 Frequent (33%) Frequent (79-30%)
Excluded (0%)
HP:0001903
11 abnormality of dental color 58 30 Frequent (33%) Frequent (79-30%)
HP:0011073
12 nail dystrophy 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0008404
13 sparse axillary hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002215
14 sparse pubic hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002225
15 anonychia 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
HP:0001798
16 acral blistering 58 30 Frequent (33%) Frequent (79-30%)
HP:0031045
17 dental enamel pits 58 30 Frequent (33%) Frequent (79-30%)
HP:0009722
18 atrophic, patchy alopecia 58 30 Frequent (33%) Frequent (79-30%)
HP:0004529
19 skin detachment 58 30 Frequent (33%) Frequent (79-30%)
HP:0032156
20 enamel hypoplasia 30 Very rare (1%) HP:0006297
21 palmoplantar keratoderma 58 30 Occasional (7.5%) Occasional (29-5%)
Excluded (0%)
HP:0000982
22 growth delay 58 30 Occasional (7.5%) Occasional (29-5%)
Excluded (0%)
HP:0001510
23 gastrointestinal inflammation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004386
24 dystrophic toenail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001810
25 dystrophic fingernails 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008391
26 hypoplastic dermoepidermal hemidesmosomes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0020117
27 abnormal blistering of the skin 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0008066
28 mitten deformity 58 30 Very rare (1%) Excluded (0%)
Very rare (<4-1%)
HP:0004057
29 limb joint contracture 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003121
30 patchy alopecia 30 Very rare (1%) HP:0002232
31 atypical scarring of skin 58 Very rare (<4-1%)
32 abnormality of the eye 58 Excluded (0%)
33 hypodontia 30 HP:0000668
34 abnormality of the urinary system 58 Excluded (0%)
35 keloids 58 Excluded (0%)
36 camptodactyly of finger 30 HP:0100490
37 basal cell carcinoma 58 Excluded (0%)
38 cutaneous melanoma 58 Excluded (0%)
39 squamous cell carcinoma 58 Excluded (0%)
40 plantar hyperkeratosis 30 HP:0007556
41 hypoplasia of dental enamel 58 Occasional (29-5%)
Frequent (79-30%)
Frequent (79-30%)
42 abnormality of the scalp 58 Excluded (0%)
43 fragile nails 30 HP:0001808
44 palmar hyperhidrosis 30 HP:0006089
45 abnormal respiratory system morphology 58 Excluded (0%)
46 genital blistering 58 Excluded (0%)
47 localized skin lesion 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Skin Nails Hair Skin:
milia
hyperpigmentation
atrophic scarring
skin blistering (onset at birth)
skin erosions (onset at birth)
more
Head And Neck Teeth:
enamel hypoplasia
dental caries
abnormal dentition (in some patients)
dental enamel pitting

Head And Neck Mouth:
normal oral mucosa

Skin Nails Hair Skin Electron Microscopy:
cleavage plane within the basement membrane zone lamina lucida
absent-hypoplastic hemidesmosomes

Head And Neck Eyes:
corneal scarring
corneal erosions
sparse eyebrows (in some patients)
sparse eyelashes (in some patients)

Skin Nails Hair Hair:
sparse eyebrows (in some patients)
sparse eyelashes (in some patients)
alopecia (in some patients)

Skin Nails Hair Skin Histology:
noninflammatory dermal-epidermal separation
decreased laminin-5 immunofluorescence

Skin Nails Hair Nails:
nail dystrophy (hands and feet)
nail loss

Clinical features from OMIM®:

226650 (Updated 24-Oct-2022)

MGI Mouse Phenotypes related to Epidermolysis Bullosa, Junctional 1a, Intermediate:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.62 COL17A1 ITGB4 LAMB3 LAMC2
2 digestive/alimentary MP:0005381 9.56 ITGB4 LAMA3 LAMB3 LAMC2
3 craniofacial MP:0005382 9.46 ITGB4 LAMA3 LAMB3 LAMC2
4 respiratory system MP:0005388 9.26 ITGB4 LAMA3 LAMB3 LAMC2
5 integument MP:0010771 9.02 COL17A1 ITGB4 LAMA3 LAMB3 LAMC2

Drugs & Therapeutics for Epidermolysis Bullosa, Junctional 1a, Intermediate

Search Clinical Trials, NIH Clinical Center for Epidermolysis Bullosa, Junctional 1a, Intermediate

Genetic Tests for Epidermolysis Bullosa, Junctional 1a, Intermediate

Anatomical Context for Epidermolysis Bullosa, Junctional 1a, Intermediate

Organs/tissues related to Epidermolysis Bullosa, Junctional 1a, Intermediate:

MalaCards : Skin, Eye
ODiseA: Skin

Publications for Epidermolysis Bullosa, Junctional 1a, Intermediate

Articles related to Epidermolysis Bullosa, Junctional 1a, Intermediate:

(show top 50) (show all 131)
# Title Authors PMID Year
1
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 57 5
9767254 1998
2
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. 62 57 5
7706760 1995
3
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 57 5
17476356 2007
4
Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. 57 5
17115047 2006
5
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 57 5
16473856 2006
6
Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. 57 5
9856855 1998
7
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. 57 5
9501007 1998
8
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
9
Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation. 62 5
11406649 2001
10
Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. 62 5
10636730 1999
11
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
12
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
13
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. 62 5
9038345 1997
14
Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1. 62 57
7987320 1994
15
Generalized atrophic benign epidermolysis bullosa. 62 57
7092249 1982
16
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. 57
32017015 2020
17
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications. 5
28830826 2017
18
Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance. 5
27480391 2017
19
Laminin: loss-of-function studies. 5
27696112 2017
20
Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa. 5
27375110 2016
21
Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3. 5
23278291 2014
22
Japanese case of Herlitz junctional epidermolysis bullosa that initially showed a few blisters on the limited area. 5
24617447 2014
23
Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. 5
22931927 2013
24
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. 5
21357940 2011
25
Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications. 5
19340010 2009
26
Revertant mosaicism--patchwork in the skin. 57
19369679 2009
27
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 57
18374450 2008
28
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. 5
16439963 2006
29
Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII. 5
16354180 2005
30
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
31
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 5
12813757 2003
32
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. 5
12485428 2002
33
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. 57
11810295 2002
34
Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. 5
11023379 2000
35
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. 57
10827412 2000
36
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. 5
10577906 1999
37
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
38
Mutation analysis and molecular genetics of epidermolysis bullosa. 57
10367729 1999
39
Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. 57
9358473 1997
40
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
41
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
42
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. 5
8824879 1996
43
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. 5
7698759 1994
44
Epidermolysis bullosa junctionalis progressiva in three siblings. 57
8494757 1993
45
Epidermolysis bullosa and amniotic bands. 57
6517104 1984
46
Sixteen types of epidermolysis bullosa. On the clinical discrimination, therapy and prenatal diagnosis. 57
6953718 1981
47
Epidermolysis bullosa with unusual features: inversa type. 57
918074 1977
48
Epidermolysis bullosa hereditaria with junctional blistering in an adult. 57
939338 1976
49
Epidermolysis bullosa and amyloidosis: a case report. 57
4301372 1968
50
Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa. 62
32862392 2020

Variations for Epidermolysis Bullosa, Junctional 1a, Intermediate

ClinVar genetic disease variations for Epidermolysis Bullosa, Junctional 1a, Intermediate:

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 GALK1, ITGB4 NM_000213.5(ITGB4):c.5218+2T>C SNV Likely Pathogenic
552889 rs780675808 GRCh37: 17:73753190-73753190
GRCh38: 17:75757109-75757109
36 COL17A1 NM_000494.4(COL17A1):c.2336-2A>G SNV Likely Pathogenic
631624 rs1478395810 GRCh37: 10:105806533-105806533
GRCh38: 10:104046775-104046775
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

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa, Junctional 1a, Intermediate:

73
# Symbol AA change Variation ID SNP ID
1 LAMB3 p.Glu210Lys VAR_004170 rs121912482
2 LAMB3 p.Gly199Ala VAR_037310 rs121912486
3 LAMB3 p.Lys207Gln VAR_037311 rs121912487

Expression for Epidermolysis Bullosa, Junctional 1a, Intermediate

Search GEO for disease gene expression data for Epidermolysis Bullosa, Junctional 1a, Intermediate.

Pathways for Epidermolysis Bullosa, Junctional 1a, Intermediate

Pathways related to Epidermolysis Bullosa, Junctional 1a, Intermediate according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
2
Show member pathways
13.05 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
3
Show member pathways
12.73 COL17A1 ITGB4 LAMA3 LAMB3 LAMC2
4
Show member pathways
12.64 LAMC2 LAMB3 LAMA3 ITGB4
5
Show member pathways
12.59 LAMC2 LAMB3 LAMA3 ITGB4
6 12.47 LAMC2 LAMB3 LAMA3
7 12.39 LAMC2 LAMB3 LAMA3 ITGB4
8
Show member pathways
12.36 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
9
Show member pathways
12.2 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
10
Show member pathways
12.13 LAMC2 LAMB3 LAMA3
11 12 LAMC2 LAMB3 LAMA3 ITGB4
12
Show member pathways
11.97 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
13
Show member pathways
11.89 LAMC2 LAMB3 LAMA3 ITGB4
14
Show member pathways
11.74 LAMA3 ITGB4
15 11.65 LAMC2 LAMB3 LAMA3
16 11.42 LAMC2 LAMB3 LAMA3
17 11.11 LAMA3 ITGB4
18 10.62 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1
19 10.59 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1

GO Terms for Epidermolysis Bullosa, Junctional 1a, Intermediate

Cellular components related to Epidermolysis Bullosa, Junctional 1a, Intermediate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.86 LAMC2 LAMB3 LAMA3 COL17A1
2 laminin-5 complex GO:0005610 9.46 LAMB3 LAMA3
3 hemidesmosome GO:0030056 9.43 LAMA3 ITGB4 COL17A1
4 basement membrane GO:0005604 9.28 LAMC2 LAMB3 LAMA3 ITGB4 COL17A1

Biological processes related to Epidermolysis Bullosa, Junctional 1a, Intermediate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.88 LAMB3 LAMA3 ITGB4
2 cell adhesion GO:0007155 9.8 LAMC2 LAMB3 LAMA3 ITGB4
3 animal organ morphogenesis GO:0009887 9.73 LAMA3 LAMB3 LAMC2
4 endodermal cell differentiation GO:0035987 9.67 LAMB3 LAMA3
5 tissue development GO:0009888 9.63 LAMC2 LAMB3 LAMA3
6 epidermis development GO:0008544 9.56 LAMC2 LAMB3 LAMA3 COL17A1
7 hemidesmosome assembly GO:0031581 9.1 LAMA3 ITGB4 COL17A1

Molecular functions related to Epidermolysis Bullosa, Junctional 1a, Intermediate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.23 LAMC2 LAMB3 LAMA3 COL17A1

Sources for Epidermolysis Bullosa, Junctional 1a, Intermediate

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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