H-JEB
MCID: EPD061
MIFTS: 38

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

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

Aliases & Classifications for Epidermolysis Bullosa, Junctional, Herlitz Type

Aliases & Descriptions for Epidermolysis Bullosa, Junctional, Herlitz Type:

Name: Epidermolysis Bullosa, Junctional, Herlitz Type 54 50 66 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 66
Herlitz Type Epidermolysis Bullosa Junctionalis 12
Herlitz-Pearson-Type Epidermolysis Bullosa 12
Herlitz-Pearson Type Epidermolysis Bullosa 50
Junctional Epidermolysis Bullosa Gravis 66
Epidermolysis Letalis 66
Herlitz Disease 69
H-Jeb 66

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;

HPO:

32
epidermolysis bullosa, junctional, herlitz type:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 226700
Disease Ontology 12 DOID:0060737
ICD10 33 Q81.1
Orphanet 56 ORPHA79404
ICD10 via Orphanet 34 Q81.1
MedGen 40 C0079683
MeSH 42 D016109

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... (226700) more...

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 dyspnea, failure to thrive and dehydration. An important gene associated with Epidermolysis Bullosa, Junctional, Herlitz Type is LAMB3 (Laminin Subunit Beta 3), and among its related pathways/superpathways are Focal Adhesion and Collagen chain trimerization. Affiliated tissues include skin and eye, and related phenotype is mortality/aging.

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 : 66 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 33)
id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, junctional, non-herlitz type 30.2 ACHE AFP CEACAM5 LAMA3 LAMB3 LAMC2
2 epidermolysis bullosa, junctional, with pyloric stenosis 11.8
3 epidermolysis bullosa 10.4
4 junctional epidermolysis bullosa 10.4
5 sclerosing perineurioma 10.2 LAMB3 MIR4260
6 nephrosclerosis 10.1 LAMA3 LAMC2
7 46,xy partial gonadal dysgenesis 10.1 LAMA3 LAMB3 LAMC2
8 bilirubin metabolic disorder 10.1 LAMA3 LAMB3 LAMC2
9 myelitis 10.1 LAMA3 LAMB3 LAMC2
10 nephrotic syndrome, type 2 10.1 LAMA3 LAMB3 LAMC2
11 gilbert syndrome 10.1 LAMA3 LAMB3 LAMC2
12 monocytic leukemia 10.1 LAMA3 LAMB3 LAMC2
13 solitary bone cyst 10.1 LAMA3 LAMB3 LAMC2
14 fallopian tube adenocarcinoma 10.0 CEACAM5 LAMC2
15 vacterl association with hydrocephaly, x-linked 10.0 AFP CEACAM5
16 rete testis adenoma 10.0 AFP CEACAM5
17 bladder carcinoma in situ 10.0 AFP CEACAM5
18 thrombophlebitis 10.0 AFP CEACAM5
19 central nervous system endodermal sinus tumor 10.0 AFP CEACAM5
20 flying phobia 10.0 AFP CEACAM5
21 varicocele 10.0 AFP CEACAM5
22 trophoblastic neoplasm 9.9 AFP CEACAM5
23 pigmented villonodular synovitis 9.9 AFP CEACAM5
24 congenital torticollis 9.9 ACHE AFP
25 sphenoid sinus squamous cell carcinoma 9.9 AFP CEACAM5
26 persian gulf syndrome 9.9 AFP CEACAM5
27 cranial nerve disease 9.9 AFP CEACAM5
28 testicular trophoblastic tumor 9.9 AFP CEACAM5
29 subendocardial myocardial infarction 9.9 AFP CEACAM5
30 cellular ependymoma 9.9 AFP CEACAM5
31 basophilic carcinoma 9.8 AFP CEACAM5
32 craniofaciofrontodigital syndrome 9.8 ACHE AFP
33 focal epithelial hyperplasia 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 by clinical synopsis from OMIM:

226700

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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.17 LAMC2 TET2 WARS ACHE AFP LAMA3

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:

66
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) duplication 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 GRCh37 Chromosome 1, 183177014: 183177014
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 GRCh38 Chromosome 1, 183222157: 183222157
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 GRCh38 Chromosome 1, 183232299: 183232300
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 GRCh38 Chromosome 1, 183239423: 183239424
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 GRCh38 Chromosome 1, 209617924: 209617924
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:

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 LAMA3 LAMB3 LAMC2 MIR4260
2
Show member pathways
12.48 LAMA3 LAMB3 LAMC2 MIR4260
3
Show member pathways
12.36 LAMA3 LAMB3 LAMC2 MIR4260
4 12.3 LAMA3 LAMB3 LAMC2
5
Show member pathways
12.29 LAMA3 LAMB3 LAMC2 MIR4260
6 12.22 LAMA3 LAMB3 LAMC2
7
Show member pathways
11.93 LAMA3 LAMB3 LAMC2
8
Show member pathways
11.79 LAMA3 LAMB3 LAMC2
9
Show member pathways
11.61 LAMA3 LAMB3 LAMC2 MIR4260
10 11.48 LAMA3 LAMB3 LAMC2
11 11.36 LAMA3 LAMB3 LAMC2
12 11.12 LAMA3 LAMB3 LAMC2
13
Show member pathways
10.75 LAMA3 LAMB3 LAMC2 MIR4260

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 9.67 ACHE LAMA3 LAMB3 LAMC2
2 extracellular matrix organization GO:0030198 9.5 LAMA3 LAMB3 LAMC2
3 epidermis development GO:0008544 9.33 LAMA3 LAMB3 LAMC2
4 endodermal cell differentiation GO:0035987 9.26 LAMA3 LAMB3
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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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