GABEB
MCID: EPD062
MIFTS: 44

Epidermolysis Bullosa, Junctional, Non-Herlitz Type (GABEB) malady

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

Aliases & Classifications for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

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

Name: Epidermolysis Bullosa, Junctional, Non-Herlitz Type 54 50
Gabeb 12 50 56 66 52
Generalized Atrophic Benign Epidermolysis Bullosa 12 50 56 66
Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type 12 50 56
Junctional Epidermolysis Bullosa Generalisata Mitis 12 50 56
Junctional Epidermolysis Bullosa, Disentis Type 12 50 56
Jeb-Nh Gen 12 50 56
Jen-Nh 12 50 56
Epidermolysis Bullosa, Generalized Atrophic Benign 54 13
Junctional Epidermolysis Bullosa, Non-Herlitz Type 50 56
Junctional Epidermolysis Bullosa Non-Herlitz Type 12 14
Jeb-I 56 69
Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 56
Epidermolysis Bullosa, Junctional, Localisata Variant 54
Epidermolysis Bullosa Junctionalis, Non-Herlitz Type 50
Epidermolysis Bullosa Atrophicans Generalisata Mitis 66
Epidermolysis Bullosa Junctionalis Severe Non-Lethal 66
Generalized Junctional Epidermolysis Bullosa Mitis 66
Epidermolysis Bullosa Junctionalis Disentis Type 66
Epidermolysis Bullosa Junctionalis Progressive 66
Non-Herlitz Junctional Epidermolysis Bullosa 66
Epidermolysis Bullosa Inversa Dystrophica 69
Junctional Epidermolysis Bullosa Inversa 56
Junctional Epidermolysis Bullosa 69
Inverse Jeb 56
Jeb-Nh Loc 56
Jeb-Nh 50
Ebj-I 56

Characteristics:

Orphanet epidemiological data:

56
localized junctional epidermolysis bullosa, non-herlitz type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
junctional epidermolysis bullosa, non-herlitz type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;
generalized junctional epidermolysis bullosa, non-herlitz type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;
junctional epidermolysis bullosa inversa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
epidermolysis bullosa, junctional, non-herlitz type:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 226650
Disease Ontology 12 DOID:0060738
ICD10 33 Q81.8
ICD10 via Orphanet 34 Q81.8
MeSH 42 D016109

Summaries for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Disease Ontology : 12 A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has material basis in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5

MalaCards based summary : Epidermolysis Bullosa, Junctional, Non-Herlitz Type, also known as gabeb, is related to junctional epidermolysis bullosa inversa and localized junctional epidermolysis bullosa, non-herlitz type, and has symptoms including oral mucosal blisters, failure to thrive and renal insufficiency. An important gene associated with Epidermolysis Bullosa, Junctional, Non-Herlitz Type is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, and related phenotypes are craniofacial and digestive/alimentary

UniProtKB/Swiss-Prot : 66 Generalized atrophic benign epidermolysis bullosa: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.

Description from OMIM: 226650

Related Diseases for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Diseases related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
id Related Disease Score Top Affiliating Genes
1 junctional epidermolysis bullosa inversa 12.4
2 localized junctional epidermolysis bullosa, non-herlitz type 12.4
3 46,xy partial gonadal dysgenesis 10.1 LAMA3 LAMB3 LAMC2
4 linear hamartoma syndrome 10.1 COL17A1 DST ITGB4
5 epidermolysis bullosa simplex with nail dystrophy 10.1 ITGB4 PLEC
6 peptidic growth factors deficiency 10.1 COL17A1 DST
7 epidermolysis bullosa 10.0
8 frmd7-related infantile nystagmus 10.0 ITGA6 ITGB4 PLEC
9 dyskinesia of esophagus 10.0 COL17A1 COL7A1 DST
10 spinocerebellar ataxia 23 9.9 COL7A1 DST ITGB4
11 intraocular retinoblastoma 9.9 COL17A1 DST ITGB4 PLEC
12 aquagenic urticaria 9.9 COL7A1 ITGA6 ITGB4
13 oral cavity cancer 9.9 CD79A COL17A1 DST
14 fecal incontinence 9.9 COL7A1 DST
15 herpes zoster 9.8 CD79A COL17A1 DST
16 pompholyx 9.8 CD79A COL17A1 DST
17 acute pulmonary heart disease 9.8 CD79A COL17A1 DST LAMA3
18 lymphangiectasia, intestinal 9.8 CD79A ITGA6 ITGB4
19 nemaline myopathy 9 9.7 COL17A1 DST ITGA6 ITGB4 PLEC
20 ureteral lymphoma 9.7 CD79A COL17A1 DST PLEC
21 lipoblastoma 9.6 CD79A COL17A1 DST ITGB4 LAD1
22 atypical autism 9.6 CD79A COL17A1 DST LAMA3 PLEC
23 myelitis 9.6 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
24 nephrosclerosis 9.5 CD79A COL17A1 DST ITGB4 LAMA3 LAMC2
25 epidermolytic acanthoma 9.4 CD79A COL17A1 COL7A1 DST ITGB4 LAMA3
26 gilbert syndrome 9.1 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
27 solitary bone cyst 9.0 CD79A COL17A1 COL7A1 DST ITGA6 ITGB4
28 monocytic leukemia 8.9 CD79A COL17A1 DST ITGA6 ITGB4 LAD1
29 bilirubin metabolic disorder 8.8 CD79A COL17A1 COL7A1 DST ITGA6 ITGB4
30 nephrotic syndrome, type 2 8.5 CD79A COL17A1 COL7A1 DST ITGA6 ITGB4

Graphical network of the top 20 diseases related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type:



Diseases related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Symptoms & Phenotypes for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Symptoms by clinical synopsis from OMIM:

226650

Clinical features from OMIM:

226650

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

56 32 (show all 38)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oral mucosal blisters 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0200097
2 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
3 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
4 anemia 56 32 Frequent (79-30%) HP:0001903
5 palmoplantar keratoderma 56 32 Occasional (29-5%) HP:0000982
6 nail dystrophy 56 32 Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0008404
7 corneal erosion 56 32 Occasional (29-5%) HP:0200020
8 growth delay 56 32 Very frequent (99-80%),Occasional (29-5%) HP:0001510
9 skin ulcer 56 32 Frequent (79-30%) HP:0200042
10 anonychia 56 32 Frequent (79-30%) HP:0001798
11 pyloric stenosis 56 32 Occasional (29-5%) HP:0002021
12 sparse body hair 56 32 Very frequent (99-80%) HP:0002231
13 abnormality of skin pigmentation 56 32 Very frequent (99-80%) HP:0001000
14 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
15 skin vesicle 56 32 Very frequent (99-80%) HP:0200037
16 hyperpigmentation of the skin 56 32 Frequent (79-30%) HP:0000953
17 hypopigmentation of the skin 56 32 Frequent (79-30%) HP:0001010
18 abnormality of the larynx 56 32 Very frequent (99-80%) HP:0001600
19 aplasia cutis congenita 56 32 Very frequent (99-80%) HP:0001057
20 absent toenail 56 32 Very frequent (99-80%) HP:0001802
21 absent fingernail 56 32 Very frequent (99-80%) HP:0001817
22 hypoplasia of dental enamel 56 32 Very frequent (99-80%),Occasional (29-5%) HP:0006297
23 dermal atrophy 56 32 Occasional (29-5%) HP:0004334
24 milia 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0001056
25 atrophic scars 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0001075
26 urethral obstruction 56 32 Occasional (29-5%) HP:0000796
27 urinary bladder inflammation 56 32 Occasional (29-5%) HP:0100577
28 scarring alopecia of scalp 56 32 Very frequent (99-80%) HP:0004552
29 fragile skin 56 32 Very frequent (99-80%) HP:0001030
30 carious teeth 32 HP:0000670
31 abnormal blistering of the skin 56 Very frequent (99-80%),Very frequent (99-80%)
32 abnormality of the bladder 56 Occasional (29-5%)
33 hypodontia 32 HP:0000668
34 camptodactyly of finger 32 HP:0100490
35 nail dysplasia 32 HP:0002164
36 fragile nails 32 HP:0001808
37 palmar hyperhidrosis 32 HP:0006089
38 plantar hyperkeratosis 32 HP:0007556

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
2 digestive/alimentary MP:0005381 9.43 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
3 integument MP:0010771 9.17 LAMB3 LAMC2 PLEC COL7A1 ITGA6 ITGB4

Drugs & Therapeutics for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Interventional clinical trials:


id Name Status NCT ID Phase
1 Survey to Identify Burdens and Unmet Needs of Patients With Epidermolysis Bullosa Recruiting NCT03158662

Search NIH Clinical Center for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Genetic Tests for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Anatomical Context for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

MalaCards organs/tissues related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

39
Skin

Publications for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Variations for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

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

66
id Symbol AA change Variation ID SNP ID
1 COL17A1 p.Ser265Cys VAR_017596
2 COL17A1 p.Gly627Val VAR_017598
3 COL17A1 p.Gly633Asp VAR_017599 rs121912773
4 COL17A1 p.Arg1303Gln VAR_017601 rs121912771
5 ITGB4 p.Gly931Asp VAR_011299 rs121912466
6 LAMB3 p.Glu210Lys VAR_004170 rs121912482
7 LAMB3 p.Gly199Ala VAR_037310 rs121912486
8 LAMB3 p.Lys207Gln VAR_037311 rs121912487

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

6 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1 LAMA3 NM_198129.2(LAMA3): c.8962C> T (p.Gln2988Ter) single nucleotide variant Pathogenic rs137852758 GRCh37 Chromosome 18, 21519286: 21519286
2 LAMB3 NM_000228.2(LAMB3): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs80356682 GRCh37 Chromosome 1, 209799066: 209799066
3 LAMB3 NM_000228.2(LAMB3): c.904delT (p.Trp302Glyfs) deletion Pathogenic rs786205094 GRCh37 Chromosome 1, 209803999: 209803999
4 LAMB3 NM_000228.2(LAMB3): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121912482 GRCh37 Chromosome 1, 209806415: 209806415
5 LAMB3 NM_000228.2(LAMB3): c.1439_1443delCGTGT (p.Pro480Argfs) deletion Pathogenic rs786205095 GRCh37 Chromosome 1, 209800770: 209800774
6 LAMB3 NM_000228.2(LAMB3): c.628+42G> A single nucleotide variant Pathogenic rs587776812 GRCh37 Chromosome 1, 209806373: 209806373
7 LAMB3 NM_000228.2(LAMB3): c.596G> C (p.Gly199Ala) single nucleotide variant Pathogenic rs121912486 GRCh37 Chromosome 1, 209806447: 209806447
8 LAMB3 NM_000228.2(LAMB3): c.565-3T> C single nucleotide variant Pathogenic rs587776813 GRCh37 Chromosome 1, 209806481: 209806481
9 LAMB3 NM_000228.2(LAMB3): c.619A> C (p.Lys207Gln) single nucleotide variant Pathogenic rs121912487 GRCh37 Chromosome 1, 209806424: 209806424
10 LAMB3 NM_000228.2(LAMB3): c.629-1G> A single nucleotide variant Pathogenic rs587776814 GRCh37 Chromosome 1, 209806122: 209806122
11 LAMC2 NM_005562.2(LAMC2): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs118203901 GRCh37 Chromosome 1, 183191316: 183191316
12 LAMC2 LAMC2, IVS3, G-A, -1 single nucleotide variant Pathogenic
13 LAMC2 LAMC2, 1-BP INS, 3511A insertion Pathogenic
14 ITGB4 NM_000213.4(ITGB4): c.2792G> A (p.Gly931Asp) single nucleotide variant Pathogenic rs121912466 GRCh37 Chromosome 17, 73738672: 73738672
15 COL17A1 COL17A1, 1-BP DEL, 2965G deletion Pathogenic
16 COL17A1 NM_000494.3(COL17A1): c.3676C> T (p.Arg1226Ter) single nucleotide variant Pathogenic rs121912769 GRCh37 Chromosome 10, 105794469: 105794469
17 COL17A1 COL17A1, 1-BP INS, 4150G insertion Pathogenic
18 COL17A1 COL17A1, 5-BP DEL, NT2944 deletion Pathogenic
19 COL17A1 NM_000494.3(COL17A1): c.3067C> T (p.Gln1023Ter) single nucleotide variant Pathogenic rs121912770 GRCh37 Chromosome 10, 105798167: 105798167
20 COL17A1 COL17A1, 1-BP DEL, 1706A deletion Pathogenic
21 COL17A1 NM_000494.3(COL17A1): c.3908G> A (p.Arg1303Gln) single nucleotide variant Pathogenic rs121912771 GRCh37 Chromosome 10, 105793951: 105793951
22 COL17A1 COL17A1, IVS31AS, A-G, -2 single nucleotide variant Pathogenic
23 COL17A1 COL17A1, IVS31AS, G-T, -1 single nucleotide variant Pathogenic
24 COL17A1 COL17A1, 2-BP DEL, 4003TC deletion Pathogenic
25 COL17A1 COL17A1, 2-BP DEL, 520AG deletion Pathogenic
26 COL17A1 NM_000494.3(COL17A1): c.2564T> G (p.Leu855Ter) single nucleotide variant Pathogenic rs121912772 GRCh37 Chromosome 10, 105801284: 105801284
27 COL17A1 NM_000494.3(COL17A1): c.1898G> A (p.Gly633Asp) single nucleotide variant Pathogenic rs121912773 GRCh37 Chromosome 10, 105812830: 105812830
28 COL17A1 NM_000494.3(COL17A1): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs121912774 GRCh37 Chromosome 10, 105831820: 105831820
29 COL17A1 NM_000494.3(COL17A1): c.2435-6_2440delTTTCAGAGGGGT deletion Likely pathogenic rs797045084 GRCh38 Chromosome 10, 104043576: 104043587

Expression for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Search GEO for disease gene expression data for Epidermolysis Bullosa, Junctional, Non-Herlitz Type.

Pathways for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Pathways related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type according to GeneCards Suite gene sharing:

(show all 23)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3
2
Show member pathways
13.19 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3
3
Show member pathways
12.81 CD79A COL17A1 COL7A1 ITGA6 ITGB4 LAMA3
4
Show member pathways
12.71 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
5
Show member pathways
12.62 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
6 12.47 ITGA6 LAMA3 LAMB3 LAMC2
7 12.39 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
8
Show member pathways
12.38 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
9
Show member pathways
12.33 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
10
Show member pathways
12.15 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
11
Show member pathways
12.07 ITGA6 LAMA3 LAMB3 LAMC2
12
Show member pathways
12 ITGA6 ITGB4 LAMA3
13
Show member pathways
11.94 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
14
Show member pathways
11.93 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
15 11.78 ITGA6 ITGB4 PLEC
16 11.72 LAMA3 LAMB3 LAMC2
17 11.66 ITGA6 LAMA3 LAMB3 LAMC2
18 11.5 LAMA3 LAMB3 LAMC2
19
Show member pathways
11.48 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
20 11.21 ITGA6 ITGB4
21 11.14 COL17A1 ITGA6 ITGB4
22 11.13 ITGB4 LAMA3

GO Terms for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Cellular components related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.63 COL17A1 COL7A1 LAD1 LAMA3 LAMB3 LAMC2
2 cell leading edge GO:0031252 9.4 DST ITGB4
3 basal plasma membrane GO:0009925 9.37 DST ITGA6
4 hemidesmosome GO:0030056 9.35 COL17A1 DST ITGA6 ITGB4 PLEC
5 integrin complex GO:0008305 9.32 ITGA6 ITGB4
6 laminin-5 complex GO:0005610 9.26 LAMA3 LAMB3
7 basement membrane GO:0005604 9.23 COL17A1 COL7A1 DST ITGA6 LAD1 LAMA3

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 COL7A1 DST ITGA6 ITGB4 LAMA3 LAMB3
2 cell-matrix adhesion GO:0007160 9.65 COL17A1 ITGA6 ITGB4
3 integrin-mediated signaling pathway GO:0007229 9.63 DST ITGA6 ITGB4
4 extracellular matrix disassembly GO:0022617 9.58 LAMA3 LAMB3 LAMC2
5 skin development GO:0043588 9.55 ITGA6 ITGB4
6 epidermis development GO:0008544 9.55 COL17A1 COL7A1 LAMA3 LAMB3 LAMC2
7 digestive tract development GO:0048565 9.54 ITGA6 ITGB4
8 brown fat cell differentiation GO:0050873 9.52 ITGA6 LAMB3
9 cell motility GO:0048870 9.51 DST ITGB4
10 endodermal cell differentiation GO:0035987 9.5 COL7A1 LAMA3 LAMB3
11 renal system development GO:0072001 9.49 ITGA6 ITGB4
12 amelogenesis GO:0097186 9.43 ITGA6 ITGB4
13 extracellular matrix organization GO:0030198 9.43 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
14 nail development GO:0035878 9.37 ITGA6 ITGB4
15 hemidesmosome assembly GO:0031581 9.17 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2

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

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.33 LAD1 LAMA3 LAMB3
2 insulin-like growth factor I binding GO:0031994 8.96 ITGA6 ITGB4
3 neuregulin binding GO:0038132 8.62 ITGA6 ITGB4

Sources for Epidermolysis Bullosa, Junctional, Non-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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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