Details of Disease

General Information of Disease (ID: DIS7VDBV)

Disease Name Epidermolysis bullosa simplex 2F, with mottled pigmentation
Synonyms
EBSMP; EBS with mottled pigmentation; speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering; speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering; epidermolysis bullosa simplex 2F, with mottled pigmentation; EBS-MP; epidermolysis bullosa simplex with mottled pigmentation
Definition A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.
Disease Hierarchy
DIS2CZ6X: Epidermolysis bullosa simplex
DIS7VDBV: Epidermolysis bullosa simplex 2F, with mottled pigmentation
Disease Identifiers
MONDO ID
MONDO_0007556
MESH ID
C535959
UMLS CUI
C0432316
OMIM ID
131960
MedGen ID
140934
Orphanet ID
79397
SNOMED CT ID
254180002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT14 OTUVZ1DW Supportive Autosomal dominant [1]
EXPH5 OTOMXDUO Strong Biomarker [2]
KRT5 OTVGI9HT Strong Autosomal dominant [3]
NAT9 OT4ZKCRS Strong Genetic Variation [4]
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References

1 Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14. J Invest Dermatol. 2006 Jul;126(7):1654-7. doi: 10.1038/sj.jid.5700296. Epub 2006 Apr 6.
2 Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.JAMA Dermatol. 2016 Oct 1;152(10):1137-1141. doi: 10.1001/jamadermatol.2016.2268.
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 Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.Eur J Dermatol. 2010 Nov-Dec;20(6):698-700. doi: 10.1684/ejd.2010.1080. Epub 2010 Oct 5.