H-JEB
MCID: EPD061
MIFTS: 48

Epidermolysis Bullosa, Junctional, Herlitz Type (H-JEB)

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

Aliases & Classifications for Epidermolysis Bullosa, Junctional, Herlitz Type

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

Name: Epidermolysis Bullosa, Junctional, Herlitz Type 57 53 75 13 40
Epidermolysis Bullosa Letalis 57 12 53 59
Junctional Epidermolysis Bullosa Generalisata Gravis 12 53 59
Jeb-Herlitz Type 57 12 53
Jeb-H 12 53 59
Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type 57 53
Junctional Epidermolysis Bullosa, Herlitz-Pearson Type 12 59
Junctional Epidermolysis Bullosa, Herlitz Type 53 59
Junctional Epidermolysis Bullosa Herlitz Type 12 15
Herlitz-Pearson-Type Epidermolysis Bullosa 57 12
Junctional Epidermolysis Bullosa Herlitz-Pearson Type 75
Junctional Epidermolysis Bullosa, Generalized Severe 59
Epidermolysis Bullosa Junctionalis, Herlitz Type 57
Herlitz Type Epidermolysis Bullosa Junctionalis 12
Herlitz-Pearson Type Epidermolysis Bullosa 53
Junctional Epidermolysis Bullosa Gravis 75
Jeb, Generalized Severe 59
Epidermolysis Letalis 75
Herlitz Disease 73
H-Jeb 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
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 : 57 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 epidermolysis bullosa, and has symptoms including onychomadesis and exuberant granulation tissue. An important gene associated with Epidermolysis Bullosa, Junctional, Herlitz Type is LAMB3 (Laminin Subunit Beta 3), and among its related pathways/superpathways are Beta-Adrenergic Signaling and Degradation of the extracellular matrix. Affiliated tissues include skin, eye and liver, and related phenotypes are failure to thrive and dehydration

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

UniProtKB/Swiss-Prot : 75 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.

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 34)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, junctional, non-herlitz type 32.8 LAMA3 LAMB3 LAMC2
2 epidermolysis bullosa 31.5 LAMA3 LAMB3 LAMC2
3 junctional epidermolysis bullosa 30.8 LAMA3 LAMB3 LAMC2
4 epidermolysis bullosa junctionalis with pyloric atresia 12.1
5 pyloric atresia 10.6
6 muscular dystrophy, congenital, lmna-related 10.3
7 respiratory failure 10.3
8 muscular dystrophy 10.3
9 cicatricial pemphigoid 10.1 LAMA3 LAMC2
10 maternal uniparental disomy of chromosome 1 10.0 LAMA3 LAMB3 LAMC2
11 vesiculobullous skin disease 10.0 LAMA3 LAMB3 LAMC2
12 skin disease 10.0 LAMA3 LAMB3 LAMC2
13 bullous pemphigoid 10.0 LAMA3 LAMB3 LAMC2
14 mucinous cystadenofibroma 9.9 AFP CEACAM5
15 liver lymphoma 9.9 AFP CEACAM5
16 melanotic medulloblastoma 9.9 AFP CEACAM5
17 urachal adenocarcinoma 9.9 AFP CEACAM5
18 hematocele of tunica vaginalis testis 9.9 AFP CEACAM5
19 pancreatic cystadenocarcinoma 9.9 AFP CEACAM5
20 bile duct cystadenocarcinoma 9.9 AFP CEACAM5
21 liver sarcoma 9.9 AFP CEACAM5
22 rete testis adenocarcinoma 9.9 AFP CEACAM5
23 nephrotic syndrome, type 1 9.9 ACHE AFP
24 rete testis neoplasm 9.9 AFP CEACAM5
25 extragonadal seminoma 9.9 AFP CEACAM5
26 mixed cell type cancer 9.9 AFP CEACAM5
27 bile duct adenocarcinoma 9.9 AFP CEACAM5
28 tracheal cancer 9.9 AFP CEACAM5
29 testicular yolk sac tumor 9.8 AFP CEACAM5
30 bile duct disease 9.8 AFP CEACAM5
31 biliary tract disease 9.8 AFP CEACAM5
32 anencephaly 9.8 ACHE AFP
33 gastrointestinal system cancer 9.8 AFP CEACAM5
34 endocrine gland cancer 9.7 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:

57
Growth Other:
failure to thrive

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

Skin Nails Hair Skin:
milia
congenital localized absence of skin
atrophic scarring
severe bullous blistering lesions
perinasal or perioral nonhealing crusting of the skin
more
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:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
2 dehydration 59 32 frequent (33%) Frequent (79-30%) HP:0001944
3 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
4 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
5 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
6 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008404
7 abnormal blistering of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008066
8 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
9 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
10 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
11 respiratory failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002878
12 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
13 hoarse voice 59 32 frequent (33%) Frequent (79-30%) HP:0001609
14 recurrent skin infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0001581
15 skin erosion 59 32 frequent (33%) Frequent (79-30%) HP:0200041
16 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0006739
17 paronychia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001818
18 onycholysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001806
19 laryngeal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0001602
20 aplasia cutis congenita 59 32 frequent (33%) Frequent (79-30%) HP:0001057
21 hypoplasia of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0006297
22 ankyloglossia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010296
23 milia 59 32 frequent (33%) Frequent (79-30%) HP:0001056
24 atrophic scars 59 32 frequent (33%) Frequent (79-30%) HP:0001075
25 laryngeal stridor 59 32 frequent (33%) Frequent (79-30%) HP:0006511
26 esophageal stricture 59 32 frequent (33%) Frequent (79-30%) HP:0002043
27 mitten deformity 59 32 occasional (7.5%) Occasional (29-5%) HP:0004057
28 carious teeth 32 HP:0000670
29 nail dysplasia 32 HP:0002164
30 pyloric stenosis 32 HP:0002021
31 congenital localized absence of skin 32 HP:0007383
32 junctional split 32 HP:0003341

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


onychomadesis, exuberant granulation tissue

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

26 (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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 ACHE LAMA3 LAMB3 LAMC2
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:

41
Skin, Eye, Liver, Testis

Publications for Epidermolysis Bullosa, Junctional, Herlitz Type

Articles related to Epidermolysis Bullosa, Junctional, Herlitz Type:

(show all 22)
# Title Authors Year
1
Epidermolysis bullosa letalis with pyloric atresia in an infant. ( 8640099 )
1996
2
Epidermolysis bullosa letalis (Herlitz disease): a case report. ( 7798834 )
1994
3
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. ( 8307068 )
1993
4
Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein. ( 7510931 )
1993
5
[The prenatal diagnosis of Herlitz's borderline epidermolysis bullosa letalis]. ( 2327163 )
1990
6
Cultured epithelia from junctional epidermolysis bullosa letalis keratinocytes express the main phenotypic characteristics of the disease. ( 2317443 )
1990
7
Epidermolysis bullosa letalis: an immunogenetic disease of extraembryonic ectoderm? ( 3276196 )
1988
8
Anaesthesia for children with junctional epidermolysis bullosa (letalis). ( 3608059 )
1987
9
Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings. ( 3572700 )
1987
10
Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3 monoclonal antibody. ( 3314965 )
1987
11
Blister fluid from epidermolysis bullosa letalis induces dermal-epidermal separation in vitro. ( 3722859 )
1986
12
Epidermolysis bullosa letalis in the larynx causing acute respiratory failure: a case presentation and review of the literature. ( 6480237 )
1984
13
Acquired pyloric obstruction in a patient with epidermolysis bullosa letalis. ( 6403690 )
1983
14
Epidermolysis bullosa letalis and phenytoin. ( 7130488 )
1982
15
Epidermolysis bullosa letalis associated with congenital pyloric atresia. ( 7316533 )
1981
16
Prenatal diagnosis of epidermolysis bullosa letalis. ( 6103301 )
1980
17
Pyloric atresia and epidermolysis bullosa letalis: a lethal combination in two premature newborn siblings. ( 490291 )
1979
18
Epidermolysis bullosa letalis: report of a case. ( 612575 )
1977
19
Ocular changes in epidermolysis bullosa letalis. ( 1122001 )
1975
20
Epidermolysis bullosa letalis in two brothers. ( 4462628 )
1974
21
Inheritance in epidermolysis bullosa letalis. ( 5751205 )
1968
22
Epidermolysis bullosa letalis. Report of three cases with particular reference to the histopathology of the skin. ( 14437828 )
1960

Variations for Epidermolysis Bullosa, Junctional, Herlitz Type

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

75
# 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 784)
# 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 LAMA3 NM_000227.4(LAMA3): c.1981C> T (p.Arg661Ter) single nucleotide variant Pathogenic rs137852757 GRCh38 Chromosome 18, 23907639: 23907639
4 LAMB3 NM_000228.2(LAMB3): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs80356682 GRCh37 Chromosome 1, 209799066: 209799066
5 LAMB3 NM_000228.2(LAMB3): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs80356682 GRCh38 Chromosome 1, 209625721: 209625721
6 LAMB3 NM_000228.2(LAMB3): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs80356680 GRCh37 Chromosome 1, 209823368: 209823368
7 LAMB3 NM_000228.2(LAMB3): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs80356680 GRCh38 Chromosome 1, 209650023: 209650023
8 LAMB3 NM_000228.2(LAMB3): c.496C> T (p.Gln166Ter) single nucleotide variant Pathogenic rs121912483 GRCh37 Chromosome 1, 209807860: 209807860
9 LAMB3 NM_000228.2(LAMB3): c.496C> T (p.Gln166Ter) single nucleotide variant Pathogenic rs121912483 GRCh38 Chromosome 1, 209634515: 209634515
10 LAMB3 NM_000228.2(LAMB3): c.1830G> A (p.Trp610Ter) single nucleotide variant Pathogenic rs121912484 GRCh37 Chromosome 1, 209799139: 209799139
11 LAMB3 NM_000228.2(LAMB3): c.1830G> A (p.Trp610Ter) single nucleotide variant Pathogenic rs121912484 GRCh38 Chromosome 1, 209625794: 209625794
12 LAMB3 NM_000228.2(LAMB3): c.2806C> T (p.Gln936Ter) single nucleotide variant Pathogenic rs121912485 GRCh37 Chromosome 1, 209791900: 209791900
13 LAMB3 NM_000228.2(LAMB3): c.2806C> T (p.Gln936Ter) single nucleotide variant Pathogenic rs121912485 GRCh38 Chromosome 1, 209618555: 209618555
14 LAMB3 NM_000228.2(LAMB3): c.1587_1588delAG (p.Gly530Metfs) deletion Pathogenic rs769151482 GRCh37 Chromosome 1, 209800221: 209800222
15 LAMB3 NM_000228.2(LAMB3): c.1587_1588delAG (p.Gly530Metfs) deletion Pathogenic rs769151482 GRCh38 Chromosome 1, 209626876: 209626877
16 LAMB3 NM_000228.2(LAMB3): c.628+42G> A single nucleotide variant Likely benign rs587776812 GRCh37 Chromosome 1, 209806373: 209806373
17 LAMB3 NM_000228.2(LAMB3): c.628+42G> A single nucleotide variant Likely benign rs587776812 GRCh38 Chromosome 1, 209633028: 209633028
18 LAMB3 NM_000228.2(LAMB3): c.596G> C (p.Gly199Ala) single nucleotide variant Uncertain significance rs121912486 GRCh37 Chromosome 1, 209806447: 209806447
19 LAMB3 NM_000228.2(LAMB3): c.596G> C (p.Gly199Ala) single nucleotide variant Uncertain significance rs121912486 GRCh38 Chromosome 1, 209633102: 209633102
20 LAMC2 LAMC2, IVS8AS, G-A, -1 single nucleotide variant Pathogenic
21 LAMC2 NM_005562.2(LAMC2): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs80356683 GRCh37 Chromosome 1, 183184602: 183184602
22 LAMC2 NM_005562.2(LAMC2): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs80356683 GRCh38 Chromosome 1, 183215467: 183215467
23 LAMC2 NM_005562.2(LAMC2): c.1065C> G (p.Tyr355Ter) single nucleotide variant Likely pathogenic rs118203899 GRCh37 Chromosome 1, 183194854: 183194854
24 LAMC2 NM_005562.2(LAMC2): c.1065C> G (p.Tyr355Ter) single nucleotide variant Likely pathogenic rs118203899 GRCh38 Chromosome 1, 183225719: 183225719
25 LAMC2 NM_005562.2(LAMC2): c.1659C> A (p.Cys553Ter) single nucleotide variant Pathogenic rs118203900 GRCh37 Chromosome 1, 183197699: 183197699
26 LAMC2 NM_005562.2(LAMC2): c.1659C> A (p.Cys553Ter) single nucleotide variant Pathogenic rs118203900 GRCh38 Chromosome 1, 183228564: 183228564
27 LAMC2 LAMC2, 7-BP DEL, NT2137 deletion Pathogenic
28 LAMB3 NM_000228.2(LAMB3): c.727C> T (p.Gln243Ter) single nucleotide variant Pathogenic rs80356681 GRCh37 Chromosome 1, 209806023: 209806023
29 LAMB3 NM_000228.2(LAMB3): c.727C> T (p.Gln243Ter) single nucleotide variant Pathogenic rs80356681 GRCh38 Chromosome 1, 209632678: 209632678
30 LAMB3 NM_000228.2(LAMB3): c.957_958ins77 (p.?) insertion Pathogenic GRCh37 Chromosome 1, 209803256: 209803257
31 LAMB3 NM_000228.2(LAMB3): c.957_958ins77 (p.?) insertion Pathogenic GRCh38 Chromosome 1, 209629911: 209629912
32 LAMA3 NM_198129.2(LAMA3): c.6943A> T (p.Arg2315Ter) single nucleotide variant Pathogenic rs80356679 GRCh37 Chromosome 18, 21487827: 21487827
33 LAMA3 NM_198129.2(LAMA3): c.6943A> T (p.Arg2315Ter) single nucleotide variant Pathogenic rs80356679 GRCh38 Chromosome 18, 23907863: 23907863
34 LAMA3 NM_001127718.2(LAMA3): c.151dupG (p.Val51Glyfs) insertion Pathogenic rs80356678 GRCh37 Chromosome 18, 21453159: 21453159
35 LAMA3 NM_001127718.2(LAMA3): c.151dupG (p.Val51Glyfs) insertion Pathogenic rs80356678 GRCh38 Chromosome 18, 23873195: 23873195
36 LAMC2 NM_005562.2(LAMC2): c.2590C> T (p.Gln864Ter) single nucleotide variant Likely pathogenic rs151190720 GRCh37 Chromosome 1, 183205728: 183205728
37 LAMC2 NM_005562.2(LAMC2): c.2590C> T (p.Gln864Ter) single nucleotide variant Likely pathogenic rs151190720 GRCh38 Chromosome 1, 183236593: 183236593
38 LAMC2 NM_005562.2(LAMC2): c.2590C> T (p.Gln864Ter) single nucleotide variant Likely pathogenic rs151190720 NCBI36 Chromosome 1, 181472351: 181472351
39 LAMB3 NM_000228.2(LAMB3): c.1150G> A (p.Asp384Asn) single nucleotide variant Uncertain significance rs267598351 GRCh37 Chromosome 1, 209801518: 209801518
40 LAMB3 NM_000228.2(LAMB3): c.1150G> A (p.Asp384Asn) single nucleotide variant Uncertain significance rs267598351 GRCh38 Chromosome 1, 209628173: 209628173
41 LAMB3 NM_000228.2(LAMB3): c.1150G> A (p.Asp384Asn) single nucleotide variant Uncertain significance rs267598351 NCBI36 Chromosome 1, 207868141: 207868141
42 LAMC2 NM_005562.2(LAMC2): c.667C> T (p.Arg223Ter) single nucleotide variant Likely pathogenic rs753268823 GRCh38 Chromosome 1, 183222115: 183222115
43 LAMC2 NM_005562.2(LAMC2): c.667C> T (p.Arg223Ter) single nucleotide variant Likely pathogenic rs753268823 GRCh37 Chromosome 1, 183191250: 183191250
44 LAMB3 NM_000228.2(LAMB3): c.1978C> T (p.Arg660Ter) single nucleotide variant Pathogenic/Likely pathogenic rs146794392 GRCh38 Chromosome 1, 209623999: 209623999
45 LAMB3 NM_000228.2(LAMB3): c.1978C> T (p.Arg660Ter) single nucleotide variant Pathogenic/Likely pathogenic rs146794392 GRCh37 Chromosome 1, 209797344: 209797344
46 LAMB3 NM_000228.2(LAMB3): c.1705C> T (p.Arg569Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201551805 GRCh38 Chromosome 1, 209625919: 209625919
47 LAMB3 NM_000228.2(LAMB3): c.1705C> T (p.Arg569Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201551805 GRCh37 Chromosome 1, 209799264: 209799264
48 LAMB3 NM_000228.2(LAMB3): c.1365_1366delCA (p.Asn456Argfs) deletion Pathogenic/Likely pathogenic rs769967565 GRCh38 Chromosome 1, 209627502: 209627503
49 LAMB3 NM_000228.2(LAMB3): c.1365_1366delCA (p.Asn456Argfs) deletion Pathogenic/Likely pathogenic rs769967565 GRCh37 Chromosome 1, 209800847: 209800848
50 LAMB3 NM_000228.2(LAMB3): c.565-2A> G single nucleotide variant Pathogenic rs370148688 GRCh38 Chromosome 1, 209633135: 209633135

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
12.35 LAMA3 LAMB3 LAMC2
2
Show member pathways
12.29 LAMA3 LAMB3 LAMC2
3
Show member pathways
12.23 LAMA3 LAMB3 LAMC2
4
Show member pathways
11.93 LAMA3 LAMB3 LAMC2
5
Show member pathways
11.82 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 laminin-5 complex GO:0005610 8.96 LAMA3 LAMB3
3 basement membrane GO:0005604 8.92 ACHE LAMA3 LAMB3 LAMC2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.43 LAMA3 LAMB3 LAMC2
2 cell adhesion GO:0007155 9.35 ACHE CEACAM5 LAMA3 LAMB3 LAMC2
3 epidermis development GO:0008544 9.33 LAMA3 LAMB3 LAMC2
4 endodermal cell differentiation GO:0035987 9.32 LAMA3 LAMB3
5 hemidesmosome assembly GO:0031581 8.8 LAMA3 LAMB3 LAMC2

Sources for Epidermolysis Bullosa, Junctional, 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
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38 LifeMap
40 LOVD
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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