Details of Disease

General Information of Disease (ID: DISTRF9L)

Disease Name Ichthyosis vulgaris
Synonyms fish scale disease; common ichthyosis; ichthyosis vulgaris
Definition The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.
Disease Hierarchy
DISKGT16: Inherited ichthyosis
DISTRF9L: Ichthyosis vulgaris
Disease Identifiers
MONDO ID
MONDO_0024304
MESH ID
D016112
UMLS CUI
C0079584
OMIM ID
146700
MedGen ID
38217
SNOMED CT ID
254157005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
COL7A1 TTBCOKN Strong Genetic Variation [1]
STS TTHM0R1 Strong Biomarker [2]
TGM1 TT7A949 Strong Biomarker [2]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
TGM3 DEOEB3Q Limited Biomarker [3]
TGM5 DEW8QEH Limited Altered Expression [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT10 OTSVRD3Q Strong Biomarker [4]
LBR OT1HG3HG Strong Biomarker [5]
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References

1 Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris.J Dermatol. 2019 Feb;46(2):158-160. doi: 10.1111/1346-8138.14731. Epub 2018 Dec 14.
2 Distinguishing ichthyoses by protein profiling.PLoS One. 2013 Oct 9;8(10):e75355. doi: 10.1371/journal.pone.0075355. eCollection 2013.
3 Expression of transglutaminase 5 in normal and pathologic human epidermis.J Invest Dermatol. 2002 Sep;119(3):670-7. doi: 10.1046/j.1523-1747.2002.01853.x.
4 Immunohistochemical evaluation of epidermal proliferation, differentiation and melanocytic density in symmetrical acrokeratoderma.Clin Exp Dermatol. 2017 Jul;42(5):509-515. doi: 10.1111/ced.13118. Epub 2017 May 22.
5 HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.Hum Mol Genet. 2007 May 15;16(10):1176-87. doi: 10.1093/hmg/ddm065. Epub 2007 Apr 2.