KEGG DISEASE: Epidermolysis bullosa, junctional

KEGG

DISEASE: Epidermolysis bullosa, junctional

Entry

H00586                      Disease

Name

Epidermolysis bullosa, junctional

Subgroup

Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa, junctional, with interstitial lung disease and nephrotic syndrome [DS:H02500]

Supergrp

Epidermolysis bullosa [DS:H01737]

Description

Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa (JEB) are characterized by blister formation within the lamina lucida of the dermal-epidermal basement membrane. Herlitz subtype, the classic form of the disease, shows a severe phenotype that may lead to death during infancy or early childhood owing to infection.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   Genetically-determined epidermolysis bullosa
    EC31  Junctional epidermolysis bullosa
     H00586  Epidermolysis bullosa, junctional
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00586  Epidermolysis bullosa, junctional

Pathway

Cytoskeleton in muscle cells

Focal adhesion

Network

nt06539 Cytoskeleton in muscle cells

Gene

(JEB1A/1B) LAMB3 [HSA:3914] [KO:K06244]
(JEB2A/2B/2C) LAMA3 [HSA:3909] [KO:K06240]
(JEB3A/3B) LAMC2 [HSA:3918] [KO:K06246]
(JEB4) COL17A1 [HSA:1308] [KO:K07603]
(JEB5A/5B) ITGB4 [HSA:3691] [KO:K06525]
(JEB6) ITGA6 [HSA:3655] [KO:K06485]
(JEB7) ITGA3 [HSA:3675] [KO:K06482]

Drug

Birch triterpenes [DR:D12755]

Other DBs

ICD-11:

MeSH:

OMIM:

226650 226700 619783 619784 245660 619785 619786 619787 619816 226730 619817 614748

Reference

Authors

Fine JD

Title

Inherited epidermolysis bullosa: recent basic and clinical advances.

Journal

Curr Opin Pediatr 22:453-8 (2010)
DOI:10.1097/MOP.0b013e32833bb74f

Reference

Authors

Fine JD

Title

Inherited epidermolysis bullosa: past, present, and future.

Journal

Ann N Y Acad Sci 1194:213-22 (2010)
DOI:10.1111/j.1749-6632.2010.05463.x

Reference

Authors

Uitto J, Richard G

Title

Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.

Journal

Clin Dermatol 23:33-40 (2005)
DOI:10.1016/j.clindermatol.2004.09.015

Reference

Authors

Sawamura D, Nakano H, Matsuzaki Y

Title

Overview of epidermolysis bullosa.

Journal

J Dermatol 37:214-9 (2010)
DOI:10.1111/j.1346-8138.2009.00800.x

Reference

Authors

Fine JD

Title

Inherited epidermolysis bullosa.

Journal

Orphanet J Rare Dis 5:12 (2010)
DOI:10.1186/1750-1172-5-12

Reference

PMID:7706760 (JEB1A)

Authors

McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RA, Uitto J

Title

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa.

Journal

J Invest Dermatol 104:467-74 (1995)
DOI:10.1111/1523-1747.ep12605904

Reference

PMID:7698759 (JEB1B)

Authors

Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J

Title

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.

Journal

Genomics 24:357-60 (1994)
DOI:10.1006/geno.1994.1627

Reference

PMID:11810295 (JEB2A JEB3A)

Authors

Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J

Title

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

Journal

Hum Genet 110:41-51 (2002)
DOI:10.1007/s00439-001-0630-1

Reference

PMID:8586427 (JEB2B)

Authors

Vidal F, Baudoin C, Miquel C, Galliano MF, Christiano AM, Uitto J, Ortonne JP, Meneguzzi G

Title

Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.

Journal

Genomics 30:273-80 (1995)
DOI:10.1006/geno.1995.9877

Reference

PMID:12915477 (JEB2C)

Authors

McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA

Title

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

Journal

Hum Mol Genet 12:2395-409 (2003)
DOI:10.1093/hmg/ddg234

Reference

PMID:8012393 (JEB3B)

Authors

Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J

Title

Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.

Journal

Nat Genet 6:293-7 (1994)
DOI:10.1038/ng0394-293

Reference

PMID:7550320 (JEB4)

Authors

McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RA, Uitto J

Title

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.

Journal

Nat Genet 11:83-6 (1995)
DOI:10.1038/ng0995-83

Reference

PMID:10792571 (JEB5A)

Authors

Inoue M, Tamai K, Shimizu H, Owaribe K, Nakama T, Hashimoto T, McGrath JA

Title

A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?

Journal

J Invest Dermatol 114:1061-4 (2000)
DOI:10.1046/j.1523-1747.2000.00960-3.x

Reference

PMID:7545057 (JEB5B)

Authors

Vidal F, Aberdam D, Miquel C, Christiano AM, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi G

Title

Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.

Journal

Nat Genet 10:229-34 (1995)
DOI:10.1038/ng0695-229

Reference

PMID:9185503 (JEB6)

Authors

Ruzzi L, Gagnoux-Palacios L, Pinola M, Belli S, Meneguzzi G, D'Alessio M, Zambruno G

Title

A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.

Journal

J Clin Invest 99:2826-31 (1997)
DOI:10.1172/JCI119474

Reference

PMID:22512483 (JEB7)

Authors

Has C, Sparta G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, Waters A, He Y, Anikster Y, Esser P, Straub BK, Hausser I, Bockenhauer D, Dekel B, Hildebrandt F, Bruckner-Tuderman L, Laube GF

Title

Integrin alpha3 mutations with kidney, lung, and skin disease.

Journal

N Engl J Med 366:1508-14 (2012)
DOI:10.1056/NEJMoa1110813

LinkDB

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