Details of Disease

General Information of Disease (ID: DISQM23S)

Disease Name Junctional epidermolysis bullosa, non-Herlitz type
Synonyms
epidermolysis bullosa Junctionalis, non-Herlitz type; JEB-nH; epidermolysis bullosa Junctionalis, Disentis type; JEB-I; epidermolysis bullosa Junctionalis, severe Nonlethal; epidermolysis bullosa, junctional, non-Herlitz type; epidermolysis bullosa, generalized atrophic benign; epidermolysis bullosa, generalised atrophic benign; epidermolysis bullosa, junctional, Localisata variant; junctional epidermolysis bullosa inversa; epidermolysis bullosa Junctionalis, progressive; JEN-nH
Definition
Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.
Disease Hierarchy
DISJRXWU: Junctional epidermolysis bullosa
DISQM23S: Junctional epidermolysis bullosa, non-Herlitz type
Disease Identifiers
MONDO ID
MONDO_0009180
MESH ID
C562639
UMLS CUI
C0268374
OMIM ID
226650
MedGen ID
82798
SNOMED CT ID
724225008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LAMC2 TTNS7H3 Limited Genetic Variation [1]
LAMB3 TT2WOUQ Disputed Biomarker [2]
LAMC2 TTNS7H3 Strong Autosomal recessive [3]
LAMB3 TT2WOUQ Definitive Autosomal recessive [4]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
GALK1 DE3OP9S Strong Genetic Variation [5]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ITGB4 OT28UK84 Strong Autosomal recessive [3]
LAMA3 OTFME7HT Strong Autosomal recessive [3]
LAMC2 OTJMTM72 Strong Autosomal recessive [3]
COL17A1 OTID5AH2 Definitive Autosomal recessive [4]
LAMB3 OTFPU6W8 Definitive Autosomal recessive [4]
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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 A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region.Eur J Oral Sci. 2016 Aug;124(4):403-5. doi: 10.1111/eos.12280. Epub 2016 May 24.
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 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
5 Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.J Invest Dermatol. 2002 Dec;119(6):1275-81. doi: 10.1046/j.1523-1747.2002.19609.x.