H-JEB
MCID: EPD061
MIFTS: 54

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 20 72 13 39
Epidermolysis Bullosa Letalis 57 12 20 58 32
Junctional Epidermolysis Bullosa Generalisata Gravis 12 20 58
Jeb-Herlitz Type 57 12 20
Jeb-H 12 20 58
Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type 57 20
Junctional Epidermolysis Bullosa, Herlitz-Pearson Type 12 58
Epidermolysis Bullosa Junctionalis, Herlitz Type 57 6
Junctional Epidermolysis Bullosa, Herlitz Type 20 58
Junctional Epidermolysis Bullosa Herlitz Type 12 15
Herlitz-Pearson-Type Epidermolysis Bullosa 57 12
Junctional Epidermolysis Bullosa Herlitz-Pearson Type 72
Severe Generalized Junctional Epidermolysis Bullosa 58
Herlitz Type Epidermolysis Bullosa Junctionalis 12
Herlitz-Pearson Type Epidermolysis Bullosa 20
Junctional Epidermolysis Bullosa Gravis 72
Severe Generalized Jeb 58
Epidermolysis Letalis 72
Herlitz Disease 70
H-Jeb 72

Characteristics:

Orphanet epidemiological data:

58
severe generalized junctional epidermolysis bullosa
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 (Updated 05-Apr-2021)
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:
Onset and clinical course death in infancy congenital onset
Inheritance autosomal recessive inheritance


Classifications:

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


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) (Updated 05-Apr-2021)

MalaCards based summary : Epidermolysis Bullosa, Junctional, Herlitz Type, also known as epidermolysis bullosa letalis, is related to epidermolysis bullosa junctionalis with pyloric atresia and pyloric atresia, 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 eye, kidney and skin, and related phenotypes are failure to thrive and growth delay

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: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.

UniProtKB/Swiss-Prot : 72 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 37)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa junctionalis with pyloric atresia 32.3 LAMC2 LAMB3 LAMA4 LAMA3 COL17A1
2 pyloric atresia 31.2 LAMC2 COL17A1
3 epidermolysis bullosa 30.9 LAMC2 LAMB3 LAMA3 COL7A1 COL17A1
4 inherited epidermolysis bullosa 30.6 LAMA3 COL7A1
5 epidermolysis bullosa simplex with muscular dystrophy 30.4 LAMA3 COL17A1
6 epidermolysis bullosa simplex 30.1 LAMA3 COL7A1 COL17A1
7 skin disease 30.0 LAMC2 LAMB3 LAMA3 COL7A1 COL17A1
8 junctional epidermolysis bullosa 29.9 MIR4260 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1
9 epidermolysis bullosa, junctional, non-herlitz type 29.5 MIR4260 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1
10 erythrokeratoderma ''en cocardes'' 10.2
11 muscular dystrophy, congenital, lmna-related 10.2
12 respiratory failure 10.2
13 gastric dilatation 10.2
14 muscular dystrophy 10.2
15 epidermolysis bullosa with pyloric atresia 10.2
16 maternal uniparental disomy of chromosome 1 10.2 LAMC2 LAMB3 LAMA3
17 maternal uniparental disomy 10.2 LAMC2 LAMB3 LAMA3
18 uniparental disomy of chromosome 1 10.2 LAMC2 LAMB3 LAMA3
19 retinitis pigmentosa 59 10.2 PEX1 NDUFAF5
20 retinitis pigmentosa 62 10.2 PEX1 NDUFAF5
21 epidermolysis bullosa simplex, generalized 10.2 LAMC2 COL17A1
22 cicatricial pemphigoid 10.1 LAMC2 LAMA3 COL17A1
23 zellweger spectrum disorder 10.1 PEX2 PEX1
24 neurotic excoriation 10.0 COL7A1 COL17A1
25 bullous pemphigoid 10.0 LAMC2 LAMB3 LAMA3 COL17A1
26 nail disorder, nonsyndromic congenital, 9 10.0 COL7A1 COL17A1
27 nail disorder, nonsyndromic congenital, 8 10.0 LAMB3 LAMA3 COL7A1
28 peroxisome biogenesis disorder 1a 10.0 PEX2 PEX1
29 nail disorder, nonsyndromic congenital, 4 10.0 COL7A1 COL17A1
30 kindler syndrome 9.9 LAMB3 COL7A1 COL17A1
31 recessive dystrophic epidermolysis bullosa 9.9 LAMB3 COL7A1 COL17A1
32 peroxisomal biogenesis disorder 9.9 PEX2 PEX1
33 blepharocheilodontic syndrome 1 9.9 COL7A1 COL17A1
34 mitochondrial dna depletion syndrome 9 9.8 NDUFS4 NDUFAF5
35 epidermolysis bullosa acquisita 9.8 LAMC2 LAMA3 COL7A1 COL17A1
36 epidermolysis bullosa dystrophica 9.5 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1
37 leukodystrophy 9.4 SUMF1 PEX2 PEX1 NDUFS4 NDUFAF5

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:

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
3 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
4 skin erosion 58 31 hallmark (90%) Very frequent (99-80%) HP:0200041
5 hypoplasia of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0006297
6 fragile skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001030
7 skin plaque 58 31 hallmark (90%) Very frequent (99-80%) HP:0200035
8 hypoplastic dermoepidermal hemidesmosomes 58 31 hallmark (90%) Very frequent (99-80%) HP:0020117
9 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
10 stridor 58 31 frequent (33%) Frequent (79-30%) HP:0010307
11 paronychia 58 31 frequent (33%) Frequent (79-30%) HP:0001818
12 anonychia 58 31 frequent (33%) Frequent (79-30%) HP:0001798
13 malnutrition 58 31 frequent (33%) Frequent (79-30%) HP:0004395
14 erosion of oral mucosa 58 31 frequent (33%) Frequent (79-30%) HP:0031446
15 abnormal fingertip morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001211
16 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
17 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
18 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
19 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
20 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
21 gastrointestinal inflammation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004386
22 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
23 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
24 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
25 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
26 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
27 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
28 hydroureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000072
29 dysuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0100518
30 nail dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008404
31 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
32 pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002090
33 edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000969
34 hoarse cry 58 31 occasional (7.5%) Occasional (29-5%) HP:0001615
35 urinary retention 58 31 occasional (7.5%) Occasional (29-5%) HP:0000016
36 squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002860
37 unexplained fevers 58 31 occasional (7.5%) Occasional (29-5%) HP:0001955
38 laryngeal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001602
39 aplasia cutis congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0001057
40 duplicated collecting system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000081
41 ureterocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0000070
42 urethral stricture 58 31 occasional (7.5%) Occasional (29-5%) HP:0012227
43 esophageal stricture 58 31 occasional (7.5%) Occasional (29-5%) HP:0002043
44 abnormal cornea morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000481
45 mitten deformity 58 31 occasional (7.5%) Occasional (29-5%) HP:0004057
46 ureteral obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0006000
47 abnormal blood ion concentration 58 31 occasional (7.5%) Occasional (29-5%) HP:0003111
48 aplasia/hypoplasia of the bladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0010476
49 renal tubular epithelial necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008682
50 pneumothorax 58 31 very rare (1%) Very rare (<4-1%) HP:0002107

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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


onychomadesis; exuberant granulation tissue

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 COL7A1 HAX1 LAMA3 LAMA4 LAMB3 LAMC2
2 craniofacial MP:0005382 9.87 COL7A1 LAMA3 LAMB3 LAMC2 PEX2 PMM2
3 immune system MP:0005387 9.81 COL7A1 HAX1 LAMA3 LAMA4 LAMC2 NDUFS4
4 mortality/aging MP:0010768 9.77 COL7A1 HAX1 LAMA3 LAMA4 LAMB3 LAMC2
5 skeleton MP:0005390 9.23 COL7A1 HAX1 LAMB3 LAMC2 NDUFS4 PEX2

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:

40
Eye, Kidney, Skin

Publications for Epidermolysis Bullosa, Junctional, Herlitz Type

Articles related to Epidermolysis Bullosa, Junctional, Herlitz Type:

(show top 50) (show all 111)
# Title Authors PMID Year
1
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 57 6
16473856 2006
2
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. 57 6
15538630 2005
3
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. 57 6
11810295 2002
4
Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. 6 57
11023379 2000
5
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. 57 6
9242513 1997
6
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. 6 57
9205497 1997
7
Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. 6 57
8586427 1995
8
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. 57 6
8530087 1995
9
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. 57 6
7633458 1995
10
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. 57 6
8012393 1994
11
Prenatal diagnosis of epidermolysis bullosa letalis. 57 61
6103301 1980
12
Two cases of junctional epidermolysis bullosa (Herlitz-Pearson). 61 57
7378286 1980
13
Inheritance in epidermolysis bullosa letalis. 61 57
5751205 1968
14
Epidermolysis bullosa letalis. Report of three cases with particular reference to the histopathology of the skin. 57 61
14437828 1960
15
Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia. 6
29900604 2019
16
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. 6
29334134 2018
17
Regeneration of the entire human epidermis using transgenic stem cells. 57
29144448 2017
18
Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing. 6
28392661 2017
19
Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance. 6
27480391 2017
20
Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India. 6
28087116 2017
21
Laminin: loss-of-function studies. 6
27696112 2017
22
Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa. 6
27375110 2016
23
Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency. 6
27827380 2016
24
Junctional epidermolysis bullosa with LAMB3 splice-site mutations. 6
25708563 2015
25
Dermal eosinophilic infiltrate in junctional epidermolysis bullosa. 6
25950805 2015
26
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. 6
24947307 2015
27
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
28
Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3. 6
23278291 2014
29
Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. 6
22931927 2013
30
Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa. 6
22434185 2012
31
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. 6
21801158 2011
32
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 57
18374450 2008
33
Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. 6
17916201 2008
34
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 6
17476356 2007
35
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. 6
16971478 2007
36
Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. 6
17362460 2007
37
Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins. 6
15725250 2005
38
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. 6
15373767 2004
39
A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa. 6
12943669 2003
40
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 6
12813757 2003
41
Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. 6
11689492 2001
42
Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. 6
11564184 2001
43
Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa? 6
11231327 2001
44
DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa. 6
11298117 2001
45
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. 6
10951251 2000
46
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. 57
10827412 2000
47
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. 6
10577906 1999
48
Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells. 57
10366601 1999
49
Mutation analysis and molecular genetics of epidermolysis bullosa. 57
10367729 1999
50
Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. 6
9856852 1998

Variations for Epidermolysis Bullosa, Junctional, Herlitz Type

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

6 (show top 50) (show all 457)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAMB3 NM_000228.3(LAMB3):c.496C>T (p.Gln166Ter) SNV Pathogenic 14544 rs121912483 GRCh37: 1:209807860-209807860
GRCh38: 1:209634515-209634515
2 LAMB3 NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter) SNV Pathogenic 14545 rs121912484 GRCh37: 1:209799139-209799139
GRCh38: 1:209625794-209625794
3 LAMB3 NM_000228.3(LAMB3):c.2806C>T (p.Gln936Ter) SNV Pathogenic 14546 rs121912485 GRCh37: 1:209791900-209791900
GRCh38: 1:209618555-209618555
4 LAMB3 NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) Deletion Pathogenic 14548 rs769151482 GRCh37: 1:209800221-209800222
GRCh38: 1:209626876-209626877
5 LAMC2 NM_005562.3(LAMC2):c.1659C>A (p.Cys553Ter) SNV Pathogenic 14557 rs118203900 GRCh37: 1:183197699-183197699
GRCh38: 1:183228564-183228564
6 LAMC2 NM_005562.3(LAMC2):c.2137_2143del (p.Gln713fs) Deletion Pathogenic 14558 rs1558095794 GRCh37: 1:183201908-183201914
GRCh38: 1:183232773-183232779
7 LAMB3 NM_000228.2(LAMB3):c.957_958ins77 (p.?) Insertion Pathogenic 21132 GRCh37: 1:209803256-209803257
GRCh38: 1:209629911-209629912
8 LAMB3 NM_000228.3(LAMB3):c.1344_1345del (p.Ser448fs) Deletion Pathogenic 523029 rs1553277267 GRCh37: 1:209800868-209800869
GRCh38: 1:209627523-209627524
9 LAMA3 LAMA3, 1-BP DEL, 300G Deletion Pathogenic 8791 GRCh37:
GRCh38:
10 LAMA3 NM_000227.5(LAMA3):c.2116A>T (p.Arg706Ter) SNV Pathogenic 21264 rs80356679 GRCh37: 18:21487827-21487827
GRCh38: 18:23907863-23907863
11 LAMA3 NM_000227.5(LAMA3):c.1214del (p.Gln405fs) Deletion Pathogenic 549906 rs1555731178 GRCh37: 18:21481127-21481127
GRCh38: 18:23901163-23901163
12 LAMA3 NM_000227.5(LAMA3):c.1403_1404AG[1] (p.Gln468_Ser469insTer) Microsatellite Pathogenic 555742 rs1158945258 GRCh37: 18:21483001-21483002
GRCh38: 18:23903037-23903038
13 LAMA3 NM_000227.5(LAMA3):c.1981C>T (p.Arg661Ter) SNV Pathogenic 8792 rs137852757 GRCh37: 18:21487603-21487603
GRCh38: 18:23907639-23907639
14 LAMC2 NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) SNV Pathogenic 14555 rs80356683 GRCh37: 1:183184602-183184602
GRCh38: 1:183215467-183215467
15 LAMB3 NM_000228.3(LAMB3):c.1939G>T (p.Glu647Ter) SNV Pathogenic 918057 GRCh37: 1:209799030-209799030
GRCh38: 1:209625685-209625685
16 LAMB3 NM_000228.3(LAMB3):c.2188C>T (p.Gln730Ter) SNV Pathogenic 977217 GRCh37: 1:209797020-209797020
GRCh38: 1:209623675-209623675
17 LAMC2 NM_005562.3(LAMC2):c.1067-1G>A SNV Pathogenic 14554 rs1558092501 GRCh37: 1:183195832-183195832
GRCh38: 1:183226697-183226697
18 LAMA3 NM_000227.5(LAMA3):c.151dup (p.Val51fs) Duplication Pathogenic 42049 rs80356678 GRCh37: 18:21453158-21453159
GRCh38: 18:23873194-23873195
19 LAMB3 NM_000228.3(LAMB3):c.565-2A>G SNV Pathogenic 188846 rs370148688 GRCh37: 1:209806480-209806480
GRCh38: 1:209633135-209633135
20 LAMA3 NM_198129.3(LAMA3):c.9511+1G>A SNV Pathogenic 552174 rs1296034886 GRCh37: 18:21529889-21529889
GRCh38: 18:23949925-23949925
21 LAMB3 NM_000228.3(LAMB3):c.429G>A (p.Trp143Ter) SNV Pathogenic 929011 GRCh37: 1:209807927-209807927
GRCh38: 1:209634582-209634582
22 LAMB3 NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) SNV Pathogenic 14541 rs80356680 GRCh37: 1:209823368-209823368
GRCh38: 1:209650023-209650023
23 LAMB3 NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) SNV Pathogenic 189034 rs146794392 GRCh37: 1:209797344-209797344
GRCh38: 1:209623999-209623999
24 LAMB3 NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) Duplication Pathogenic 279829 rs1553277702 GRCh37: 1:209803179-209803180
GRCh38: 1:209629834-209629835
25 LAMB3 NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) SNV Pathogenic 372402 rs774174881 GRCh37: 1:209803197-209803197
GRCh38: 1:209629852-209629852
26 LAMB3 NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) SNV Pathogenic 14541 rs80356680 GRCh37: 1:209823368-209823368
GRCh38: 1:209650023-209650023
27 LAMA3 NM_000227.5(LAMA3):c.4114C>T (p.Gln1372Ter) SNV Pathogenic 449049 rs772038362 GRCh37: 18:21519265-21519265
GRCh38: 18:23939301-23939301
28 LAMB3 NM_000228.3(LAMB3):c.31dup (p.Leu11fs) Duplication Pathogenic 633285 rs777672897 GRCh37: 1:209823460-209823461
GRCh38: 1:209650115-209650116
29 LAMB3 NM_000228.3(LAMB3):c.2842del (p.Val948fs) Deletion Pathogenic 372403 rs772421306 GRCh37: 1:209791864-209791864
GRCh38: 1:209618519-209618519
30 LAMB3 NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) SNV Pathogenic 14539 rs80356682 GRCh37: 1:209799066-209799066
GRCh38: 1:209625721-209625721
31 LAMB3 NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) SNV Pathogenic 371216 rs1057517096 GRCh37: 1:209803097-209803097
GRCh38: 1:209629752-209629752
32 LAMB3 NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) SNV Pathogenic 14539 rs80356682 GRCh37: 1:209799066-209799066
GRCh38: 1:209625721-209625721
33 LAMB3 NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter) SNV Pathogenic 488703 rs759518184 GRCh37: 1:209807926-209807926
GRCh38: 1:209634581-209634581
34 LAMC2 NM_005562.3(LAMC2):c.343C>T (p.Arg115Ter) SNV Pathogenic 1028397 GRCh37: 1:183184662-183184662
GRCh38: 1:183215527-183215527
35 LAMB3 NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) SNV Pathogenic/Likely pathogenic 188764 rs201551805 GRCh37: 1:209799264-209799264
GRCh38: 1:209625919-209625919
36 LAMA3 NM_000227.5(LAMA3):c.3001C>T (p.Arg1001Ter) SNV Pathogenic/Likely pathogenic 555355 rs768415785 GRCh37: 18:21496564-21496564
GRCh38: 18:23916600-23916600
37 LAMC2 NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter) SNV Pathogenic/Likely pathogenic 188791 rs753268823 GRCh37: 1:183191250-183191250
GRCh38: 1:183222115-183222115
38 LAMC2 NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) SNV Pathogenic/Likely pathogenic 14556 rs118203899 GRCh37: 1:183194854-183194854
GRCh38: 1:183225719-183225719
39 LAMB3 NM_000228.3(LAMB3):c.1486-1G>A SNV Pathogenic/Likely pathogenic 558343 rs1418276828 GRCh37: 1:209800324-209800324
GRCh38: 1:209626979-209626979
40 LAMC2 NM_005562.3(LAMC2):c.1468+1G>T SNV Likely pathogenic 558444 rs1043996591 GRCh37: 1:183196833-183196833
GRCh38: 1:183227698-183227698
41 LAMB3 NM_000228.3(LAMB3):c.1063_1064TG[1] (p.Cys355_Glu356delinsTer) Microsatellite Likely pathogenic 558478 rs1553277686 GRCh37: 1:209803148-209803149
GRCh38: 1:209629803-209629804
42 LAMB3 NM_000228.3(LAMB3):c.2108_2127del (p.Gln702_Phe703insTer) Deletion Likely pathogenic 558689 rs1553276488 GRCh37: 1:209797195-209797214
GRCh38: 1:209623850-209623869
43 LAMC2 NM_005562.3(LAMC2):c.2602-1G>C SNV Likely pathogenic 557469 rs1553267499 GRCh37: 1:183206486-183206486
GRCh38: 1:183237351-183237351
44 LAMB3 NM_000228.3(LAMB3):c.1283_1288+14del Deletion Likely pathogenic 557906 rs1553277432 GRCh37: 1:209801366-209801385
GRCh38: 1:209628021-209628040
45 LAMC2 NM_005562.3(LAMC2):c.640+2T>A SNV Likely pathogenic 554732 rs1553265794 GRCh37: 1:183190098-183190098
GRCh38: 1:183220963-183220963
46 LAMC2 NM_005562.3(LAMC2):c.1715-1G>A SNV Likely pathogenic 554739 rs774080932 GRCh37: 1:183200095-183200095
GRCh38: 1:183230960-183230960
47 LAMC2 NM_005562.3(LAMC2):c.953+1G>A SNV Likely pathogenic 555294 rs1553266052 GRCh37: 1:183192460-183192460
GRCh38: 1:183223325-183223325
48 LAMB3 NM_000228.3(LAMB3):c.183+2T>C SNV Likely pathogenic 555352 rs1553281291 GRCh37: 1:209823307-209823307
GRCh38: 1:209649962-209649962
49 LAMC2 NM_005562.3(LAMC2):c.504-2A>C SNV Likely pathogenic 555531 rs1553265770 GRCh37: 1:183189958-183189958
GRCh38: 1:183220823-183220823
50 LAMB3 NM_000228.3(LAMB3):c.2556+1G>A SNV Likely pathogenic 556303 rs1178041263 GRCh37: 1:209796326-209796326
GRCh38: 1:209622981-209622981

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

72
# Symbol AA change Variation ID SNP ID
1 LAMB3 p.Pro679Leu VAR_004171 rs201223111

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1
2
Show member pathways
12.85 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1
3
Show member pathways
12.68 MIR4260 LAMC2 LAMB3 LAMA4 LAMA3
4 12.57 LAMC2 LAMB3 LAMA4 LAMA3
5
Show member pathways
12.54 LAMC2 LAMB3 LAMA4 LAMA3
6
Show member pathways
12.53 MIR4260 LAMC2 LAMB3 LAMA3 COL7A1 COL17A1
7
Show member pathways
12.47 MIR4260 LAMC2 LAMB3 LAMA3 COL17A1
8
Show member pathways
12.26 MIR4260 LAMC2 LAMB3 LAMA4 LAMA3
9
Show member pathways
12.07 LAMC2 LAMB3 LAMA4 LAMA3
10
Show member pathways
11.93 LAMC2 LAMB3 LAMA4 LAMA3
11
Show member pathways
11.82 MIR4260 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1
12 11.57 LAMC2 LAMB3 LAMA4 LAMA3
13 11.42 LAMC2 LAMB3 LAMA4 LAMA3
14 11.04 LAMC2 LAMB3 LAMA4 LAMA3
15 10.75 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1

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 collagen-containing extracellular matrix GO:0062023 9.43 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1
2 basement membrane GO:0005604 9.1 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1

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 9.8 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1
2 animal organ morphogenesis GO:0009887 9.65 LAMC2 LAMB3 LAMA3
3 extracellular matrix organization GO:0030198 9.63 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1
4 tissue development GO:0009888 9.5 LAMC2 LAMB3 LAMA3
5 peroxisome organization GO:0007031 9.46 PEX2 PEX1
6 regulation of embryonic development GO:0045995 9.43 LAMA4 LAMA3
7 endodermal cell differentiation GO:0035987 9.43 LAMB3 LAMA3 COL7A1
8 protein import into peroxisome matrix GO:0016558 9.37 PEX2 PEX1
9 epidermis development GO:0008544 9.35 LAMC2 LAMB3 LAMA3 COL7A1 COL17A1
10 hemidesmosome assembly GO:0031581 8.92 LAMC2 LAMB3 LAMA3 COL17A1

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 9.02 LAMC2 LAMB3 LAMA4 LAMA3 COL17A1

Sources for Epidermolysis Bullosa, Junctional, Herlitz Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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