Details of Disease

General Information of Disease (ID: DIS714UN)

Disease Name Lamellar ichthyosis
Synonyms classic lamellar ichthyosis; congenital lamellar ichthyosis; LI
Definition A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
Disease Hierarchy
DISB52BH: Eye disorder
DISSCALK: Hereditary skin disorder
DIS714UN: Lamellar ichthyosis

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCA12 DT7LDG0 Supportive Autosomal recessive [1]
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This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ALOX12B DEISPU8 Supportive Autosomal recessive [1]
SULT2B1 DEZBN53 Supportive Autosomal recessive [2]
TGM1 DEFJOAG Supportive Autosomal recessive [1]
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This Disease Is Related to 9 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ABCA12 OTKH9YQZ Supportive Autosomal recessive [1]
ALOX12B OTQ0BYK6 Supportive Autosomal recessive [1]
ALOXE3 OT76J52A Supportive Autosomal recessive [3]
CYP4F22 OTMNPZQL Supportive Autosomal recessive [1]
LIPN OT3TXO8F Supportive Autosomal recessive [4]
NIPAL4 OT43JC9A Supportive Autosomal recessive [1]
SDR9C7 OTQY8SJ3 Supportive Autosomal recessive [5]
SULT2B1 OT0QMKO3 Supportive Autosomal recessive [2]
TGM1 OTB8URRI Supportive Autosomal recessive [1]
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⏷ Show the Full List of 9 DOT(s)

References

1 Inherited ichthyoses/generalized Mendelian disorders of cornification. Eur J Hum Genet. 2013 Feb;21(2):123-33. doi: 10.1038/ejhg.2012.121. Epub 2012 Jun 27.
2 Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. Am J Hum Genet. 2017 Jun 1;100(6):926-939. doi: 10.1016/j.ajhg.2017.05.007.
3 Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia. Acta Derm Venereol. 2015 Sep;95(7):858-9. doi: 10.2340/00015555-2022.
4 A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet. 2011 Apr 8;88(4):482-7. doi: 10.1016/j.ajhg.2011.02.011.
5 Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis. Br J Dermatol. 2018 Mar;178(3):e207-e209. doi: 10.1111/bjd.15994. Epub 2018 Jan 21.