Details of Disease

General Information of Disease (ID: DISWX6O4)

Disease Name Superficial epidermolytic ichthyosis
Synonyms ichthyosis, bullous type; ichthyosis exfoliativa; IBS; bullous type of ichthyosis; SEI; bullous type ichthyosis; ichthyosis bullosa of Siemens; superficial epidermolytic ichthyosis
Definition Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.
Disease Hierarchy
DIS5N46O: Keratinopathic ichthyosis
DISH776B: Exfoliative ichthyosis
DISWX6O4: Superficial epidermolytic ichthyosis
Disease Identifiers
MONDO ID
MONDO_0007813
MESH ID
D053560
UMLS CUI
C0432306
OMIM ID
146800
MedGen ID
98153
Orphanet ID
455
SNOMED CT ID
254169002

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
TNFSF15 TTEST6I Limited Biomarker [1]
LCT TTA0OSE Strong Genetic Variation [2]
MYLK2 TTHLGB2 Strong Biomarker [3]
TESK1 TTWKT3Y Strong Posttranslational Modification [4]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT1 OTIOJWA4 Limited Genetic Variation [5]
MOS OTNMQPFJ Strong Genetic Variation [6]
MYLK3 OTC58V2Q Strong Biomarker [3]
NEUROG3 OT6DIPWC Strong Biomarker [7]
KRT2 OTG2EZEN Definitive Autosomal dominant [8]
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References

1 Genetics of human gastrointestinal sensation.Neurogastroenterol Motil. 2013 Jun;25(6):458-66. doi: 10.1111/nmo.12132. Epub 2013 Apr 17.
2 Lactase persistence/non-persistence variants, C/T_13910 and G/A_22018, as a diagnostic tool for lactose intolerance in IBS patients.Clin Chim Acta. 2007 Nov-Dec;386(1-2):7-11. doi: 10.1016/j.cca.2007.07.012. Epub 2007 Jul 19.
3 MLCK-mediated intestinal permeability promotes immune activation and visceral hypersensitivity in PI-IBS mice.Neurogastroenterol Motil. 2018 Sep;30(9):e13348. doi: 10.1111/nmo.13348. Epub 2018 Apr 11.
4 Decreased TESK1-mediated cofilin 1 phosphorylation in the jejunum of IBS-D patients may explain increased female predisposition to epithelial dysfunction.Sci Rep. 2018 Feb 2;8(1):2255. doi: 10.1038/s41598-018-20540-9.
5 New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.Br J Dermatol. 2001 Aug;145(2):330-5. doi: 10.1046/j.1365-2133.2001.04327.x.
6 Transcutaneous electric nerve stimulation over acupoints for patients with diarrhea-predominant irritable bowel syndrome: Protocol for systematic review and meta-analysis.Medicine (Baltimore). 2018 Dec;97(51):e13267. doi: 10.1097/MD.0000000000013267.
7 Enteroendocrine, Musashi 1 and neurogenin 3 cells in the large intestine of Thai and Norwegian patients with irritable bowel syndrome.Scand J Gastroenterol. 2017 Dec;52(12):1331-1339. doi: 10.1080/00365521.2017.1371793. Epub 2017 Aug 30.
8 Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet. 1994 Aug;7(4):485-90. doi: 10.1038/ng0894-485.