MCID: EPD061
MIFTS: 46

Epidermolysis Bullosa, Junctional, Herlitz Type

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

Aliases & Classifications for Epidermolysis Bullosa, Junctional, Herlitz Type

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

Name: Epidermolysis Bullosa, Junctional, Herlitz Type 53 49 71 13
Epidermolysis Bullosa Letalis 53 12 49 55
Junctional Epidermolysis Bullosa Generalisata Gravis 12 49 55
Jeb-Herlitz Type 53 12 49
Jeb-H 12 49 55
Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type 53 49
Junctional Epidermolysis Bullosa, Herlitz-Pearson Type 12 55
Junctional Epidermolysis Bullosa, Herlitz Type 49 55
Junctional Epidermolysis Bullosa Herlitz Type 12 14
Herlitz-Pearson-Type Epidermolysis Bullosa 53 12
Junctional Epidermolysis Bullosa Herlitz-Pearson Type 71
Junctional Epidermolysis Bullosa, Generalized Severe 55
Epidermolysis Bullosa Junctionalis, Herlitz Type 53
Herlitz Type Epidermolysis Bullosa Junctionalis 12
Herlitz-Pearson Type Epidermolysis Bullosa 49
Junctional Epidermolysis Bullosa Gravis 71
Jeb, Generalized Severe 55
Epidermolysis Letalis 71
Herlitz Disease 69
H-Jeb 71

Characteristics:

Orphanet epidemiological data:

55
junctional epidermolysis bullosa, generalized severe
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),<1/1000000 (United States),<1/1000000 (Italy); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
lesions apparent at birth
often lethal in infancy
rare survival to teens
see also the non-herlitz type of jeb , a less severe disorder


HPO:

31
epidermolysis bullosa, junctional, herlitz type:
Mortality/Aging death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epidermolysis Bullosa, Junctional, Herlitz Type

OMIM : 53 Junctional epidermolysis bullosa is an autosomal recessive skin disorder in which blisters occur at the level of the lamina lucida in the skin basement membrane. 12,11:Fine et al. (2000, 2008) proposed classification of the different types of JEB into 'Herlitz' and 'non-Herlitz' types based on severity; the Herlitz type is more severe and often results in early death. 12,11:Fine et al. (2000, 2008) also eliminated the term 'hemidesmosomal,' which had previously been proposed for some forms of JEB (Uitto et al., 1997). Pulkkinen and Uitto (1999) reviewed the pathophysiology and phenotypic and genetic heterogeneity of the various forms of epidermolysis bullosa. (226700)

MalaCards based summary : Epidermolysis Bullosa, Junctional, Herlitz Type, also known as epidermolysis bullosa letalis, is related to epidermolysis bullosa, junctional, non-herlitz type and junctional epidermolysis bullosa, and has symptoms including dyspnea, failure to thrive and dehydration. An important gene associated with Epidermolysis Bullosa, Junctional, Herlitz Type is LAMB3 (Laminin Subunit Beta 3), and among its related pathways/superpathways are Degradation of the extracellular matrix and Cell junction organization. Affiliated tissues include skin and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 Epidermolysis bullosa, junctional, Herlitz type: An infantile and lethal form of junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement In the Herlitz type, death occurs usually within the first six months of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic.

Disease Ontology : 12 A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has material basis in mutations in any 1 of the 3 genes encoding the subunits of laminin-5

Related Diseases for Epidermolysis Bullosa, Junctional, Herlitz Type

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, junctional, non-herlitz type 32.6 LAMA3 LAMB3 LAMC2
2 junctional epidermolysis bullosa 30.6 LAMA3 LAMB3 LAMC2
3 epidermolysis bullosa 30.6 LAMA3 LAMB3 LAMC2
4 epidermolysis bullosa junctionalis with pyloric atresia 11.9
5 muscular dystrophy, congenital, lmna-related 10.1
6 muscular dystrophy 10.1
7 cicatricial pemphigoid 10.1 LAMA3 LAMC2
8 maternal uniparental disomy of chromosome 1 10.0 LAMA3 LAMB3 LAMC2
9 vesiculobullous skin disease 10.0 LAMA3 LAMB3 LAMC2
10 bullous pemphigoid 10.0 LAMA3 LAMB3 LAMC2
11 mucinous cystadenofibroma 9.9 AFP CEACAM5
12 urachal adenocarcinoma 9.9 AFP CEACAM5
13 liver lymphoma 9.8 AFP CEACAM5
14 melanotic medulloblastoma 9.8 AFP CEACAM5
15 testicular granulosa cell tumor 9.8 AFP CEACAM5
16 juvenile type testicular granulosa cell tumor 9.8 AFP CEACAM5
17 hematocele of tunica vaginalis testis 9.8 AFP CEACAM5
18 bile duct cystadenocarcinoma 9.8 AFP CEACAM5
19 liver sarcoma 9.8 AFP CEACAM5
20 rete testis adenocarcinoma 9.8 AFP CEACAM5
21 nephrotic syndrome, type 1 9.8 ACHE AFP
22 malignant biphasic mesothelioma 9.8 AFP CEACAM5
23 rete testis neoplasm 9.8 AFP CEACAM5
24 pancreatic cystadenocarcinoma 9.7 AFP CEACAM5
25 extragonadal seminoma 9.7 AFP CEACAM5
26 bile duct adenocarcinoma 9.7 AFP CEACAM5
27 testicular yolk sac tumor 9.7 AFP CEACAM5
28 anencephaly 9.6 ACHE AFP
29 gastrointestinal system cancer 9.6 AFP CEACAM5
30 cell type cancer 9.5 AFP CEACAM5
31 gallbladder cancer 9.4 AFP CEACAM5

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



Diseases related to Epidermolysis Bullosa, Junctional, Herlitz Type

Symptoms & Phenotypes for Epidermolysis Bullosa, Junctional, Herlitz Type

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
exuberant granulation tissue
milia
congenital localized absence of skin
atrophic scarring
severe bullous blistering lesions
more
Head And Neck Teeth:
enamel hypoplasia
dental caries

Head And Neck Mouth:
oral mucosal lesions

Skin Nails Hair Skin Electron Microscopy:
skin cleavage in the lamina lucida
absence of immunostaining to laminin 5 subunits
hemidesmosomal abnormalities

Growth Other:
failure to thrive

Skin Nails Hair Nails:
dystrophic nails
loss of nails

Skeletal Hands:
syndactyly does not occur


Clinical features from OMIM:

226700

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

55 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 55 31 frequent (33%) Frequent (79-30%) HP:0002094
2 failure to thrive 55 31 frequent (33%) Frequent (79-30%) HP:0001508
3 dehydration 55 31 frequent (33%) Frequent (79-30%) HP:0001944
4 osteoporosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000939
5 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
6 nail dystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008404
7 abnormal blistering of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0008066
8 feeding difficulties 55 31 frequent (33%) Frequent (79-30%) HP:0011968
9 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
10 respiratory failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0002878
11 narrow mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000160
12 hoarse voice 55 31 frequent (33%) Frequent (79-30%) HP:0001609
13 dilated cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001644
14 recurrent skin infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0001581
15 skin erosion 55 31 frequent (33%) Frequent (79-30%) HP:0200041
16 squamous cell carcinoma of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0006739
17 paronychia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001818
18 onycholysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001806
19 laryngeal stenosis 55 31 frequent (33%) Frequent (79-30%) HP:0001602
20 aplasia cutis congenita 55 31 frequent (33%) Frequent (79-30%) HP:0001057
21 hypoplasia of dental enamel 55 31 occasional (7.5%) Occasional (29-5%) HP:0006297
22 ankyloglossia 55 31 occasional (7.5%) Occasional (29-5%) HP:0010296
23 milia 55 31 frequent (33%) Frequent (79-30%) HP:0001056
24 atrophic scars 55 31 frequent (33%) Frequent (79-30%) HP:0001075
25 laryngeal stridor 55 31 frequent (33%) Frequent (79-30%) HP:0006511
26 esophageal stricture 55 31 frequent (33%) Frequent (79-30%) HP:0002043
27 mitten deformity 55 31 occasional (7.5%) Occasional (29-5%) HP:0004057
28 carious teeth 31 HP:0000670
29 nail dysplasia 31 HP:0002164
30 pyloric stenosis 31 HP:0002021
31 congenital localized absence of skin 31 HP:0007383
32 junctional split 31 HP:0003341

UMLS symptoms related to Epidermolysis Bullosa, Junctional, Herlitz Type:


exuberant granulation tissue, onychomadesis

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

25 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 LAMA3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.75 WARS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.75 WARS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.75 LAMA3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.75 LAMB3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.75 LAMB3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.75 LAMB3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.75 LAMB3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.75 LAMA3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.75 LAMB3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.75 LAMA3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.75 LAMB3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.75 WARS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.75 LAMA3 WARS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.75 LAMA3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.75 LAMB3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.75 WARS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.75 LAMA3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.75 LAMA3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.75 WARS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.75 LAMB3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.75 LAMA3 LAMB3 WARS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.75 LAMB3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.75 LAMB3

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 LAMA3 LAMB3 LAMC2 ACHE
2 mortality/aging MP:0010768 9.17 ACHE AFP LAMA3 LAMB3 LAMC2 TET2

Drugs & Therapeutics for Epidermolysis Bullosa, Junctional, Herlitz Type

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa, Junctional, Herlitz Type

Genetic Tests for Epidermolysis Bullosa, Junctional, Herlitz Type

Anatomical Context for Epidermolysis Bullosa, Junctional, Herlitz Type

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

38
Skin, Eye

Publications for Epidermolysis Bullosa, Junctional, Herlitz Type

Articles related to Epidermolysis Bullosa, Junctional, Herlitz Type:

# Title Authors Year
1
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. ( 8307068 )
1993
2
Cultured epithelia from junctional epidermolysis bullosa letalis keratinocytes express the main phenotypic characteristics of the disease. ( 2317443 )
1990
3
Anaesthesia for children with junctional epidermolysis bullosa (letalis). ( 3608059 )
1987

Variations for Epidermolysis Bullosa, Junctional, Herlitz Type

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

71
# Symbol AA change Variation ID SNP ID
1 LAMB3 p.Pro679Leu VAR_004171 rs201223111

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

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA3 LAMA3, 1-BP DEL, 300G deletion Pathogenic
2 LAMA3 NM_000227.4(LAMA3): c.1981C> T (p.Arg661Ter) single nucleotide variant Pathogenic rs137852757 GRCh37 Chromosome 18, 21487603: 21487603
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.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs80356680 GRCh37 Chromosome 1, 209823368: 209823368
5 LAMB3 NM_000228.2(LAMB3): c.496C> T (p.Gln166Ter) single nucleotide variant Pathogenic rs121912483 GRCh37 Chromosome 1, 209807860: 209807860
6 LAMB3 NM_000228.2(LAMB3): c.1830G> A (p.Trp610Ter) single nucleotide variant Pathogenic rs121912484 GRCh37 Chromosome 1, 209799139: 209799139
7 LAMB3 NM_000228.2(LAMB3): c.2806C> T (p.Gln936Ter) single nucleotide variant Pathogenic rs121912485 GRCh37 Chromosome 1, 209791900: 209791900
8 LAMB3 NM_000228.2(LAMB3): c.1587_1588delAG (p.Gly530Metfs) deletion Pathogenic rs769151482 GRCh37 Chromosome 1, 209800221: 209800222
9 LAMC2 LAMC2, IVS8AS, G-A, -1 single nucleotide variant Pathogenic
10 LAMC2 NM_005562.2(LAMC2): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs80356683 GRCh37 Chromosome 1, 183184602: 183184602
11 LAMC2 NM_005562.2(LAMC2): c.1065C> G (p.Tyr355Ter) single nucleotide variant Pathogenic/Likely pathogenic rs118203899 GRCh37 Chromosome 1, 183194854: 183194854
12 LAMC2 NM_005562.2(LAMC2): c.1659C> A (p.Cys553Ter) single nucleotide variant Pathogenic rs118203900 GRCh37 Chromosome 1, 183197699: 183197699
13 LAMC2 LAMC2, 7-BP DEL, NT2137 deletion Pathogenic
14 LAMB3 NM_000228.2(LAMB3): c.727C> T (p.Gln243Ter) single nucleotide variant Pathogenic rs80356681 GRCh37 Chromosome 1, 209806023: 209806023
15 LAMB3 NM_000228.2(LAMB3): c.957_958ins77 (p.?) insertion Pathogenic GRCh37 Chromosome 1, 209803256: 209803257
16 LAMA3 NM_198129.2(LAMA3): c.6943A> T (p.Arg2315Ter) single nucleotide variant Pathogenic rs80356679 GRCh37 Chromosome 18, 21487827: 21487827
17 LAMA3 NM_001127718.2(LAMA3): c.151dupG (p.Val51Glyfs) insertion Pathogenic rs80356678 GRCh37 Chromosome 18, 21453159: 21453159
18 LAMC2 NM_005562.2(LAMC2): c.2590C> T (p.Gln864Ter) single nucleotide variant Likely pathogenic rs151190720 GRCh37 Chromosome 1, 183205728: 183205728
19 LAMC2 NM_005562.2(LAMC2): c.667C> T (p.Arg223Ter) single nucleotide variant Likely pathogenic rs753268823 GRCh37 Chromosome 1, 183191250: 183191250
20 LAMB3 NM_000228.2(LAMB3): c.1978C> T (p.Arg660Ter) single nucleotide variant Likely pathogenic rs146794392 GRCh38 Chromosome 1, 209623999: 209623999
21 LAMB3 NM_000228.2(LAMB3): c.1705C> T (p.Arg569Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201551805 GRCh37 Chromosome 1, 209799264: 209799264
22 LAMB3 NM_000228.2(LAMB3): c.1365_1366delCA (p.Asn456Argfs) deletion Likely pathogenic rs769967565 GRCh37 Chromosome 1, 209800847: 209800848
23 LAMB3 NM_000228.2(LAMB3): c.565-2A> G single nucleotide variant Pathogenic rs370148688 GRCh37 Chromosome 1, 209806480: 209806480
24 LAMB3 NM_000228.2(LAMB3): c.463dupT (p.Ser155Phefs) duplication Likely pathogenic rs776537364 GRCh37 Chromosome 1, 209807893: 209807893
25 LAMB3 NM_000228.2(LAMB3): c.29-2A> G single nucleotide variant Likely pathogenic rs371267954 GRCh37 Chromosome 1, 209823465: 209823465
26 LAMA3 NM_000227.4(LAMA3): c.3350+2T> G single nucleotide variant Likely pathogenic rs786204732 GRCh38 Chromosome 18, 23921587: 23921587
27 LAMC2 NM_005562.2(LAMC2): c.80-2A> G single nucleotide variant Likely pathogenic rs771613805 GRCh38 Chromosome 1, 183207879: 183207879
28 LAMC2 NM_005562.2(LAMC2): c.134_137delGACA (p.Arg45Lysfs) deletion Likely pathogenic rs1057516806 GRCh38 Chromosome 1, 183207935: 183207938
29 LAMC2 NM_005562.2(LAMC2): c.146_150dupATGGA (p.Phe51Metfs) duplication Likely pathogenic rs1057517353 GRCh38 Chromosome 1, 183207947: 183207951
30 LAMC2 NM_005562.2(LAMC2): c.268+1G> A single nucleotide variant Likely pathogenic rs759509443 GRCh38 Chromosome 1, 183208070: 183208070
31 LAMC2 NM_005562.2(LAMC2): c.503+1G> C single nucleotide variant Likely pathogenic rs1057516410 GRCh38 Chromosome 1, 183218489: 183218489
32 LAMC2 NM_005562.2(LAMC2): c.537delG (p.Asn180Thrfs) deletion Likely pathogenic rs1057517181 GRCh38 Chromosome 1, 183220858: 183220858
33 LAMC2 NM_005562.2(LAMC2): c.559_560insAA (p.Cys187Terfs) insertion Likely pathogenic rs1057516444 GRCh38 Chromosome 1, 183220880: 183220881
34 LAMC2 NM_005562.2(LAMC2): c.709C> T (p.Gln237Ter) single nucleotide variant Likely pathogenic rs757617349 GRCh37 Chromosome 1, 183191292: 183191292
35 LAMC2 NM_005562.2(LAMC2): c.877_878delGG (p.Gly293Serfs) deletion Likely pathogenic rs1057516218 GRCh38 Chromosome 1, 183223248: 183223249
36 LAMC2 NM_005562.2(LAMC2): c.1715-1G> C single nucleotide variant Likely pathogenic rs774080932 GRCh37 Chromosome 1, 183200095: 183200095
37 LAMC2 NM_005562.2(LAMC2): c.1858-1G> A single nucleotide variant Likely pathogenic rs1057516487 GRCh37 Chromosome 1, 183201321: 183201321
38 LAMC2 NM_005562.2(LAMC2): c.1970_1971delAG (p.Glu657Alafs) deletion Likely pathogenic rs1057516569 GRCh37 Chromosome 1, 183201434: 183201435
39 LAMC2 NM_005562.2(LAMC2): c.2006_2012delTTTCAGA (p.Ile669Lysfs) deletion Likely pathogenic rs1057517176 GRCh38 Chromosome 1, 183232335: 183232341
40 LAMC2 NM_005562.2(LAMC2): c.2348delA (p.Glu783Glyfs) deletion Likely pathogenic rs776142807 GRCh38 Chromosome 1, 183235622: 183235622
41 LAMC2 NM_005562.2(LAMC2): c.2389_2392delCTGC (p.Leu797Metfs) deletion Likely pathogenic rs1057516383 GRCh37 Chromosome 1, 183204798: 183204801
42 LAMC2 NM_005562.2(LAMC2): c.2541_2542delCA (p.His847Glnfs) deletion Likely pathogenic rs1057516727 GRCh38 Chromosome 1, 183236544: 183236545
43 LAMC2 NM_005562.2(LAMC2): c.2929_2930delTC (p.Ser977Leufs) deletion Likely pathogenic rs1057516935 GRCh37 Chromosome 1, 183208558: 183208559
44 LAMC2 NM_005562.2(LAMC2): c.3147dupG (p.Lys1050Glufs) duplication Likely pathogenic rs1057517159 GRCh38 Chromosome 1, 183240117: 183240117
45 LAMC2 NM_005562.2(LAMC2): c.3357delG (p.Leu1120Trpfs) deletion Likely pathogenic rs1057516473 GRCh38 Chromosome 1, 183243175: 183243175
46 LAMC2 NM_005562.2(LAMC2): c.3385C> T (p.Arg1129Ter) single nucleotide variant Likely pathogenic rs201307156 GRCh38 Chromosome 1, 183243203: 183243203
47 LAMB3 NM_000228.2(LAMB3): c.3517_3518delTG (p.Ter1173Metfs) deletion Likely pathogenic rs1057516400 GRCh37 Chromosome 1, 209788617: 209788618
48 LAMB3 NM_000228.2(LAMB3): c.3119G> A (p.Trp1040Ter) single nucleotide variant Likely pathogenic rs1057516759 GRCh37 Chromosome 1, 209790864: 209790864
49 LAMB3 NM_000228.2(LAMB3): c.3034C> T (p.Gln1012Ter) single nucleotide variant Likely pathogenic rs1057516756 GRCh37 Chromosome 1, 209791269: 209791269
50 LAMB3 NM_000228.2(LAMB3): c.3024delT (p.Arg1009Glyfs) deletion Likely pathogenic rs777292177 GRCh37 Chromosome 1, 209791279: 209791279

Expression for Epidermolysis Bullosa, Junctional, Herlitz Type

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

Pathways for Epidermolysis Bullosa, Junctional, Herlitz Type

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 LAMA3 LAMB3 LAMC2
2
Show member pathways
12.23 LAMA3 LAMB3 LAMC2
3
Show member pathways
11.93 LAMA3 LAMB3 LAMC2
4
Show member pathways
11.82 LAMA3 LAMB3 LAMC2
5
Show member pathways
11.76 LAMA3 LAMB3 LAMC2
6
Show member pathways
11.67 LAMA3 LAMB3 LAMC2
7 11.42 LAMA3 LAMB3 LAMC2
8 11.3 LAMA3 LAMB3 LAMC2
9
Show member pathways
10.96 LAMA3 LAMB3 LAMC2
10 10.58 LAMA3 LAMB3 LAMC2

GO Terms for Epidermolysis Bullosa, Junctional, Herlitz Type

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.63 ACHE AFP CEACAM5 LAMA3 LAMB3 LAMC2
2 proteinaceous extracellular matrix GO:0005578 9.43 LAMA3 LAMB3 LAMC2
3 basement membrane GO:0005604 9.13 LAMA3 LAMB3 LAMC2
4 laminin-5 complex GO:0005610 8.62 LAMA3 LAMB3

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.56 ACHE LAMA3 LAMB3 LAMC2
2 extracellular matrix organization GO:0030198 9.5 LAMA3 LAMB3 LAMC2
3 endodermal cell differentiation GO:0035987 9.37 LAMA3 LAMB3
4 epidermis development GO:0008544 9.33 LAMA3 LAMB3 LAMC2
5 extracellular matrix disassembly GO:0022617 9.13 LAMA3 LAMB3 LAMC2
6 hemidesmosome assembly GO:0031581 8.8 LAMA3 LAMB3 LAMC2

Sources for Epidermolysis Bullosa, Junctional, Herlitz Type

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16 ExPASy
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