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 58 54 76 13 41
Epidermolysis Bullosa Letalis 58 12 54 60
Junctional Epidermolysis Bullosa Generalisata Gravis 12 54 60
Jeb-Herlitz Type 58 12 54
Jeb-H 12 54 60
Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type 58 54
Junctional Epidermolysis Bullosa, Herlitz-Pearson Type 12 60
Junctional Epidermolysis Bullosa, Herlitz Type 54 60
Junctional Epidermolysis Bullosa Herlitz Type 12 15
Herlitz-Pearson-Type Epidermolysis Bullosa 58 12
Junctional Epidermolysis Bullosa Herlitz-Pearson Type 76
Junctional Epidermolysis Bullosa, Generalized Severe 60
Epidermolysis Bullosa Junctionalis, Herlitz Type 58
Herlitz Type Epidermolysis Bullosa Junctionalis 12
Herlitz-Pearson Type Epidermolysis Bullosa 54
Junctional Epidermolysis Bullosa Gravis 76
Jeb, Generalized Severe 60
Epidermolysis Letalis 76
Herlitz Disease 74
H-Jeb 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
epidermolysis bullosa, junctional, herlitz type:
Clinical modifier death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epidermolysis Bullosa, Junctional, Herlitz Type

OMIM : 58 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 Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include skin, eye and testes, and related phenotypes are nail dystrophy and paronychia

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 : 76 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

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

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

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008404
2 paronychia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001818
3 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
4 dehydration 60 33 frequent (33%) Frequent (79-30%) HP:0001944
5 dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002094
6 abnormal blistering of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0008066
7 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
8 hoarse voice 60 33 frequent (33%) Frequent (79-30%) HP:0001609
9 skin erosion 60 33 frequent (33%) Frequent (79-30%) HP:0200041
10 laryngeal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0001602
11 aplasia cutis congenita 60 33 frequent (33%) Frequent (79-30%) HP:0001057
12 milia 60 33 frequent (33%) Frequent (79-30%) HP:0001056
13 atrophic scars 60 33 frequent (33%) Frequent (79-30%) HP:0001075
14 laryngeal stridor 60 33 frequent (33%) Frequent (79-30%) HP:0006511
15 esophageal stricture 60 33 frequent (33%) Frequent (79-30%) HP:0002043
16 osteoporosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000939
17 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
18 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
19 dilated cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001644
20 respiratory failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002878
21 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
22 recurrent skin infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0001581
23 squamous cell carcinoma of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0006739
24 onycholysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001806
25 hypoplasia of dental enamel 60 33 occasional (7.5%) Occasional (29-5%) HP:0006297
26 ankyloglossia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010296
27 mitten deformity 60 33 occasional (7.5%) Occasional (29-5%) HP:0004057
28 carious teeth 33 HP:0000670
29 nail dysplasia 33 HP:0002164
30 pyloric stenosis 33 HP:0002021
31 congenital localized absence of skin 33 HP:0007383
32 junctional split 33 HP:0003341

Symptoms via clinical synopsis from OMIM:

58
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
exuberant granulation tissue
atrophic scarring
severe bullous blistering lesions
more
Skin Nails Hair Nails:
dystrophic nails
loss of nails

Skeletal Hands:
syndactyly does not occur

Clinical features from OMIM:

226700

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:

27 (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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 ACHE LAMA3 LAMB3 LAMC2
2 mortality/aging MP:0010768 9.43 ACHE LAMA3 LAMA4 LAMB3 LAMC2 WARS
3 respiratory system MP:0005388 8.92 ACHE LAMA3 LAMB3 LAMC2

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:

42
Skin, Eye, Testes

Publications for Epidermolysis Bullosa, Junctional, Herlitz Type

Articles related to Epidermolysis Bullosa, Junctional, Herlitz Type:

(show all 45)
# Title Authors Year
1
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. ( 15538630 )
2005
2
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. ( 11810295 )
2002
3
Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. ( 11689492 )
2001
4
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. ( 10951251 )
2000
5
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. ( 10577906 )
1999
6
Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. ( 9579554 )
1998
7
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. ( 9767254 )
1998
8
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. ( 9457915 )
1998
9
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. ( 9205497 )
1997
10
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. ( 9242513 )
1997
11
A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. ( 8618022 )
1996
12
Epidermolysis bullosa letalis with pyloric atresia in an infant. ( 8640099 )
1996
13
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. ( 8824879 )
1996
14
Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. ( 8755931 )
1996
15
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. ( 7633458 )
1995
16
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. ( 7706760 )
1995
17
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. ( 8530087 )
1995
18
Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. ( 8586427 )
1995
19
Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. ( 8541876 )
1995
20
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. ( 7698759 )
1994
21
Epidermolysis bullosa letalis (Herlitz disease): a case report. ( 7798834 )
1994
22
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. ( 7849725 )
1994
23
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. ( 8012393 )
1994
24
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). ( 8012394 )
1994
25
Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein. ( 7510931 )
1993
26
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. ( 8307068 )
1993
27
Uniparental disomy revisited: the first twelve years. ( 8362910 )
1993
28
Cultured epithelia from junctional epidermolysis bullosa letalis keratinocytes express the main phenotypic characteristics of the disease. ( 2317443 )
1990
29
[The prenatal diagnosis of Herlitz's borderline epidermolysis bullosa letalis]. ( 2327163 )
1990
30
Epidermolysis bullosa letalis: an immunogenetic disease of extraembryonic ectoderm? ( 3276196 )
1988
31
Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3 monoclonal antibody. ( 3314965 )
1987
32
Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings. ( 3572700 )
1987
33
Anaesthesia for children with junctional epidermolysis bullosa (letalis). ( 3608059 )
1987
34
Blister fluid from epidermolysis bullosa letalis induces dermal-epidermal separation in vitro. ( 3722859 )
1986
35
Epidermolysis bullosa letalis in the larynx causing acute respiratory failure: a case presentation and review of the literature. ( 6480237 )
1984
36
Acquired pyloric obstruction in a patient with epidermolysis bullosa letalis. ( 6403690 )
1983
37
Epidermolysis bullosa letalis and phenytoin. ( 7130488 )
1982
38
Epidermolysis bullosa letalis associated with congenital pyloric atresia. ( 7316533 )
1981
39
Prenatal diagnosis of epidermolysis bullosa letalis. ( 6103301 )
1980
40
Pyloric atresia and epidermolysis bullosa letalis: a lethal combination in two premature newborn siblings. ( 490291 )
1979
41
Epidermolysis bullosa letalis: report of a case. ( 612575 )
1977
42
Ocular changes in epidermolysis bullosa letalis. ( 1122001 )
1975
43
Epidermolysis bullosa letalis in two brothers. ( 4462628 )
1974
44
Inheritance in epidermolysis bullosa letalis. ( 5751205 )
1968
45
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:

76
# 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 587)
# 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 NM_005562.2(LAMC2): c.1067-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 183195832: 183195832
21 LAMC2 NM_005562.2(LAMC2): c.1067-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 1, 183226697: 183226697
22 LAMC2 NM_005562.2(LAMC2): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs80356683 GRCh37 Chromosome 1, 183184602: 183184602
23 LAMC2 NM_005562.2(LAMC2): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs80356683 GRCh38 Chromosome 1, 183215467: 183215467
24 LAMC2 NM_005562.2(LAMC2): c.1065C> G (p.Tyr355Ter) single nucleotide variant Likely pathogenic rs118203899 GRCh37 Chromosome 1, 183194854: 183194854
25 LAMC2 NM_005562.2(LAMC2): c.1065C> G (p.Tyr355Ter) single nucleotide variant Likely pathogenic rs118203899 GRCh38 Chromosome 1, 183225719: 183225719
26 LAMC2 NM_005562.2(LAMC2): c.1659C> A (p.Cys553Ter) single nucleotide variant Pathogenic rs118203900 GRCh37 Chromosome 1, 183197699: 183197699
27 LAMC2 NM_005562.2(LAMC2): c.1659C> A (p.Cys553Ter) single nucleotide variant Pathogenic rs118203900 GRCh38 Chromosome 1, 183228564: 183228564
28 LAMC2 NM_005562.2(LAMC2): c.2137_2143delCAGAACC (p.Gln713Glufs) deletion Pathogenic GRCh38 Chromosome 1, 183232774: 183232780
29 LAMC2 NM_005562.2(LAMC2): c.2137_2143delCAGAACC (p.Gln713Glufs) deletion Pathogenic GRCh37 Chromosome 1, 183201909: 183201915
30 LAMB3 NM_000228.2(LAMB3): c.727C> T (p.Gln243Ter) single nucleotide variant Pathogenic rs80356681 GRCh37 Chromosome 1, 209806023: 209806023
31 LAMB3 NM_000228.2(LAMB3): c.727C> T (p.Gln243Ter) single nucleotide variant Pathogenic rs80356681 GRCh38 Chromosome 1, 209632678: 209632678
32 LAMB3 NM_000228.2(LAMB3): c.957_958ins77 (p.?) insertion Pathogenic GRCh37 Chromosome 1, 209803256: 209803257
33 LAMB3 NM_000228.2(LAMB3): c.957_958ins77 (p.?) insertion Pathogenic GRCh38 Chromosome 1, 209629911: 209629912
34 LAMA3 NM_198129.2(LAMA3): c.6943A> T (p.Arg2315Ter) single nucleotide variant Pathogenic rs80356679 GRCh37 Chromosome 18, 21487827: 21487827
35 LAMA3 NM_198129.2(LAMA3): c.6943A> T (p.Arg2315Ter) single nucleotide variant Pathogenic rs80356679 GRCh38 Chromosome 18, 23907863: 23907863
36 LAMA3 NM_000227.4(LAMA3): c.151dup (p.Val51Glyfs) duplication Pathogenic rs80356678 GRCh37 Chromosome 18, 21453159: 21453159
37 LAMA3 NM_000227.4(LAMA3): c.151dup (p.Val51Glyfs) duplication Pathogenic rs80356678 GRCh38 Chromosome 18, 23873195: 23873195
38 LAMC2 NM_005562.2(LAMC2): c.2590C> T (p.Gln864Ter) single nucleotide variant Likely pathogenic rs151190720 GRCh37 Chromosome 1, 183205728: 183205728
39 LAMC2 NM_005562.2(LAMC2): c.2590C> T (p.Gln864Ter) single nucleotide variant Likely pathogenic rs151190720 GRCh38 Chromosome 1, 183236593: 183236593
40 LAMC2 NM_005562.2(LAMC2): c.2590C> T (p.Gln864Ter) single nucleotide variant Likely pathogenic rs151190720 NCBI36 Chromosome 1, 181472351: 181472351
41 LAMB3 NM_000228.2(LAMB3): c.1150G> A (p.Asp384Asn) single nucleotide variant Uncertain significance rs267598351 GRCh37 Chromosome 1, 209801518: 209801518
42 LAMB3 NM_000228.2(LAMB3): c.1150G> A (p.Asp384Asn) single nucleotide variant Uncertain significance rs267598351 GRCh38 Chromosome 1, 209628173: 209628173
43 LAMB3 NM_000228.2(LAMB3): c.1150G> A (p.Asp384Asn) single nucleotide variant Uncertain significance rs267598351 NCBI36 Chromosome 1, 207868141: 207868141
44 LAMC2 NM_005562.2(LAMC2): c.667C> T (p.Arg223Ter) single nucleotide variant Likely pathogenic rs753268823 GRCh38 Chromosome 1, 183222115: 183222115
45 LAMC2 NM_005562.2(LAMC2): c.667C> T (p.Arg223Ter) single nucleotide variant Likely pathogenic rs753268823 GRCh37 Chromosome 1, 183191250: 183191250
46 LAMB3 NM_000228.2(LAMB3): c.1978C> T (p.Arg660Ter) single nucleotide variant Pathogenic/Likely pathogenic rs146794392 GRCh38 Chromosome 1, 209623999: 209623999
47 LAMB3 NM_000228.2(LAMB3): c.1978C> T (p.Arg660Ter) single nucleotide variant Pathogenic/Likely pathogenic rs146794392 GRCh37 Chromosome 1, 209797344: 209797344
48 LAMB3 NM_000228.2(LAMB3): c.1705C> T (p.Arg569Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201551805 GRCh38 Chromosome 1, 209625919: 209625919
49 LAMB3 NM_000228.2(LAMB3): c.1705C> T (p.Arg569Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201551805 GRCh37 Chromosome 1, 209799264: 209799264
50 LAMB3 NM_000228.2(LAMB3): c.1365_1366delCA (p.Asn456Argfs) deletion Pathogenic/Likely pathogenic rs769967565 GRCh38 Chromosome 1, 209627502: 209627503

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:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 LAMA3 LAMA4 LAMB3 LAMC2
2
Show member pathways
12.73 LAMA3 LAMA4 LAMB3 LAMC2
3
Show member pathways
12.66 LAMA3 LAMA4 LAMB3 LAMC2
4
Show member pathways
12.58 LAMA3 LAMA4 LAMB3 LAMC2
5 12.48 LAMA3 LAMA4 LAMB3 LAMC2
6
Show member pathways
12.47 LAMA3 LAMB3 LAMC2
7
Show member pathways
12.43 LAMA3 LAMA4 LAMB3 LAMC2
8
Show member pathways
12.36 LAMA3 LAMA4 LAMB3 LAMC2
9
Show member pathways
12.35 LAMA3 LAMB3 LAMC2
10
Show member pathways
12.13 LAMA3 LAMA4 LAMB3 LAMC2
11
Show member pathways
11.9 LAMA3 LAMA4 LAMB3 LAMC2
12
Show member pathways
11.89 LAMA3 LAMA4 LAMB3 LAMC2
13
Show member pathways
11.75 LAMA3 LAMA4 LAMB3 LAMC2
14
Show member pathways
11.68 LAMA3 LAMA4
15 11.44 LAMA3 LAMA4 LAMB3 LAMC2
16 11.3 LAMA3 LAMA4
17 11.23 LAMA3 LAMA4 LAMB3 LAMC2
18 10.71 LAMA3 LAMA4 LAMB3 LAMC2
19 10.68 LAMA3 LAMA4 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 CEACAM5 LAMA3 LAMA4 LAMB3 LAMC2
2 collagen-containing extracellular matrix GO:0062023 9.43 LAMA3 LAMA4 LAMC2
3 basement membrane GO:0005604 9.02 ACHE LAMA3 LAMA4 LAMB3 LAMC2
4 laminin-5 complex GO:0005610 8.96 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 regulation of cell migration GO:0030334 9.46 LAMA3 LAMA4
2 extracellular matrix organization GO:0030198 9.46 LAMA3 LAMA4 LAMB3 LAMC2
3 regulation of cell adhesion GO:0030155 9.43 LAMA3 LAMA4
4 epidermis development GO:0008544 9.43 LAMA3 LAMB3 LAMC2
5 endodermal cell differentiation GO:0035987 9.4 LAMA3 LAMB3
6 brown fat cell differentiation GO:0050873 9.37 LAMA4 LAMB3
7 regulation of embryonic development GO:0045995 9.32 LAMA3 LAMA4
8 hemidesmosome assembly GO:0031581 9.13 LAMA3 LAMB3 LAMC2
9 cell adhesion GO:0007155 9.1 ACHE CEACAM5 LAMA3 LAMA4 LAMB3 LAMC2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 LAMA3 LAMA4 LAMC2

Sources for Epidermolysis Bullosa, Junctional, Herlitz Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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