MCID: EPD061
MIFTS: 40

Epidermolysis Bullosa, Junctional, Herlitz Type

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin 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 54 50 71 13
Junctional Epidermolysis Bullosa Generalisata Gravis 12 50 56
Epidermolysis Bullosa Letalis 12 50 56
Jeb-H 12 50 56
Junctional Epidermolysis Bullosa, Herlitz-Pearson Type 12 56
Junctional Epidermolysis Bullosa, Herlitz Type 50 56
Junctional Epidermolysis Bullosa Herlitz Type 12 14
Jeb-Herlitz Type 12 50
Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type 50
Junctional Epidermolysis Bullosa Herlitz-Pearson Type 71
Herlitz Type Epidermolysis Bullosa Junctionalis 12
Herlitz-Pearson-Type Epidermolysis Bullosa 12
Herlitz-Pearson Type Epidermolysis Bullosa 50
Junctional Epidermolysis Bullosa Gravis 71
Epidermolysis Letalis 71
Herlitz Disease 69
H-Jeb 71

Characteristics:

Orphanet epidemiological data:

56
junctional epidermolysis bullosa, herlitz type
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:

54
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 : 54
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 junctional epidermolysis bullosa generalisata gravis, is related to epidermolysis bullosa, junctional, non-herlitz type and epidermolysis bullosa, junctional, with pyloric stenosis, and has symptoms including failure to thrive, anemia and alopecia. 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 craniofacial

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 32)
id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, junctional, non-herlitz type 32.1 LAMA3 LAMB3 LAMC2
2 epidermolysis bullosa, junctional, with pyloric stenosis 11.8
3 epidermolysis bullosa 10.4
4 junctional epidermolysis bullosa 10.4
5 nephrosclerosis 10.3 LAMA3 LAMC2
6 congenital ichthyosis-microcephalus-tetraplegia syndrome 10.1 LAMA3 LAMB3 LAMC2
7 bilirubin metabolic disorder 10.1 LAMA3 LAMB3 LAMC2
8 jejunal somatostatinoma 10.1 LAMA3 LAMB3 LAMC2
9 bartholin's duct cyst 10.1 LAMA3 LAMB3 LAMC2
10 gilbert syndrome 10.1 LAMA3 LAMB3 LAMC2
11 urethral obstruction sequence 9.9 AFP CEACAM5
12 clear cell variant infiltrating bladder urothelial carcinoma 9.9 AFP CEACAM5
13 intestine carcinoma in situ 9.9 AFP CEACAM5
14 nodular medulloblastoma 9.9 AFP CEACAM5
15 gingival hypertrophy 9.8 AFP CEACAM5
16 uveal melanoma 9.8 AFP CEACAM5
17 varicocele 9.8 AFP CEACAM5
18 testicular trophoblastic tumor 9.8 AFP CEACAM5
19 pigmented villonodular synovitis 9.8 AFP CEACAM5
20 sphenoid sinus squamous cell carcinoma 9.8 AFP CEACAM5
21 congenital pulmonary alveolar proteinosis 9.8 ACHE AFP
22 malignant peritoneal solitary fibrous tumor 9.8 AFP CEACAM5
23 tricuspid valve insufficiency 9.8 AFP CEACAM5
24 urethral villous adenoma 9.7 AFP CEACAM5
25 anterolateral myocardial infarction 9.7 AFP CEACAM5
26 peritoneal serous adenocarcinoma 9.7 AFP CEACAM5
27 sleep disorder 9.7 AFP CEACAM5
28 ectodermal dysplasia with natal teeth, turnpenny type 9.6 AFP CEACAM5
29 ehlers-danlos syndrome, type viic 9.6 ACHE AFP
30 gallbladder cancer 9.5 AFP CEACAM5
31 brown-vialetto-van laere syndrome 9.4 AFP CEACAM5
32 acute porphyria 9.2 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:

54

Growth- Other:
failure to thrive

Head And Neck- Teeth:
enamel hypoplasia
dental caries

Skeletal- Hands:
syndactyly does not occur

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

Skin Nails & Hair- Nails:
dystrophic nails
loss of nails

Head And Neck- Mouth:
oral mucosal lesions

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

Clinical features from OMIM:

226700

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

56 32 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 frequent (33%) Frequent (79-30%) HP:0001508
2 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
3 alopecia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001596
4 osteoporosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000939
5 dilated cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001644
6 respiratory failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0002878
7 dyspnea 56 32 frequent (33%) Frequent (79-30%) HP:0002094
8 skin erosion 56 32 frequent (33%) Frequent (79-30%) HP:0200041
9 feeding difficulties 56 32 frequent (33%) Frequent (79-30%) HP:0011968
10 milia 56 32 frequent (33%) Frequent (79-30%) HP:0001056
11 recurrent skin infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0001581
12 dehydration 56 32 frequent (33%) Frequent (79-30%) HP:0001944
13 onycholysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001806
14 nail dystrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008404
15 laryngeal stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0001602
16 squamous cell carcinoma of the skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0006739
17 hoarse voice 56 32 frequent (33%) Frequent (79-30%) HP:0001609
18 aplasia cutis congenita 56 32 frequent (33%) Frequent (79-30%) HP:0001057
19 atrophic scars 56 32 frequent (33%) Frequent (79-30%) HP:0001075
20 paronychia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001818
21 ankyloglossia 56 32 occasional (7.5%) Occasional (29-5%) HP:0010296
22 laryngeal stridor 56 32 frequent (33%) Frequent (79-30%) HP:0006511
23 narrow mouth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000160
24 esophageal stricture 56 32 frequent (33%) Frequent (79-30%) HP:0002043
25 abnormal blistering of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0008066
26 hypoplasia of dental enamel 56 32 occasional (7.5%) Occasional (29-5%) HP:0006297
27 mitten deformity 56 32 occasional (7.5%) Occasional (29-5%) HP:0004057
28 congenital localized absence of skin 32 HP:0007383
29 nail dysplasia 32 HP:0002164
30 pyloric stenosis 32 HP:0002021
31 carious teeth 32 HP:0000670
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
id 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 WARS LAMA3
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 LAMB3 WARS LAMA3
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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 LAMC2 ACHE LAMA3 LAMB3
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:

39
Skin, Eye

Publications for Epidermolysis Bullosa, Junctional, Herlitz Type

Variations for Epidermolysis Bullosa, Junctional, Herlitz Type

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

71
id 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)
id Gene Variation Type Significance SNP ID Assembly Location
1 LAMA3 LAMA3, 1-BP DEL, 300G deletion Pathogenic
2 LAMA3 NM_198129.2(LAMA3): c.6808C> T (p.Arg2270Ter) 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 GRCh38 Chromosome 1, 183222115: 183222115
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 GRCh38 Chromosome 1, 209625919: 209625919
22 LAMB3 NM_000228.2(LAMB3): c.1365_1366delCA (p.Asn456Argfs) deletion Likely pathogenic rs769967565 GRCh38 Chromosome 1, 209627502: 209627503
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 GRCh38 Chromosome 1, 209634548: 209634548
25 LAMB3 NM_000228.2(LAMB3): c.29-2A> G single nucleotide variant Likely pathogenic rs371267954 GRCh38 Chromosome 1, 209650120: 209650120
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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 LAMA3 LAMB3 LAMC2
2
Show member pathways
12.25 LAMA3 LAMB3 LAMC2
3 12.21 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 11.26 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:

id 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:

id 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....