Details of Disease

General Information of Disease (ID: DIS6X2W8)

Disease Name Junctional epidermolysis bullosa Herlitz type
Synonyms
Herlitz-Pearson type epidermolysis bullosa; epidermolysis bullosa, junctional, Herlitz-Pearson type; junctional epidermolysis bullosa, Herlitz type; junctional epidermolysis bullosa, generalised severe; epidermolysis bullosa, junctional, Herlitz type; epidermolysis bullosa Junctionalis, Herlitz type; junctional epidermolysis bullosa, generalized severe; junctional epidermolysis bullosa, Herlitz-Pearson type; Herlitz-Pearson-type epidermolysis bullosa; Herlitz type epidermolysis bullosa junctionalis; JEB, generalised severe; JEB-Herlitz type; JEB, generalized severe; epidermolysis bullosa letalis; JEB-H; junctional epidermolysis bullosa generalisata gravis
Definition
Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.
Disease Hierarchy
DISJRXWU: Junctional epidermolysis bullosa
DIS6X2W8: Junctional epidermolysis bullosa Herlitz type
Disease Identifiers
MONDO ID
MONDO_0009182
MESH ID
D016109
UMLS CUI
C0079683
OMIM ID
226700
MedGen ID
36328
Orphanet ID
79404
SNOMED CT ID
400140006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LAMC2 TTNS7H3 Disputed Genetic Variation [1]
ITGA6 TT165T3 Strong Genetic Variation [2]
LAMC2 TTNS7H3 Strong Autosomal recessive [3]
LAMB3 TT2WOUQ Definitive Autosomal recessive [3]
LAMB3 TT2WOUQ Definitive Genetic Variation [4]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ITGB4 OT28UK84 Strong Genetic Variation [5]
LAMA3 OTFME7HT Strong Autosomal recessive [3]
LAMC2 OTJMTM72 Strong Autosomal recessive [3]
LAMB3 OTFPU6W8 Definitive Autosomal recessive [3]
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References

1 Laminin: loss-of-function studies.Cell Mol Life Sci. 2017 Mar;74(6):1095-1115. doi: 10.1007/s00018-016-2381-0. Epub 2016 Oct 1.
2 Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. J Dermatol. 2017 Feb;44(2):160-166. doi: 10.1111/1346-8138.13575. Epub 2016 Sep 8.
3 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
4 Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the 3 short arm.Br J Dermatol. 2018 Jun;178(6):1416-1422. doi: 10.1111/bjd.15690. Epub 2018 Feb 22.
5 Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia.Exp Dermatol. 2003 Oct;12(5):716-20. doi: 10.1034/j.1600-0625.2003.00052.x.