Details of Disease

General Information of Disease (ID: DISJPEP3)

• Disease Name: Epidermolytic ichthyosis
• Synonyms: bullous ichthyosiform erythroderma congenita; bullous ichthyosiform erythroderma; congenital bullous ichthyosiform erythroderma; bullous erythroderma Ichthyosiformis congenita of Brocq; autosomal dominant epidermolytic ichthyosis; BCIE; epidermolytic ichthyosis; EHK; bullous congenital ichthyosiform erythroderma of Brock; bullous ichthyosis; ichthyosis hystrix Brocq type; EI; bullous congenital ichthyosiform erythroderma; epidermolytic palmoplantar hyperkeratosis
• Definition: A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.|Editor note: check this. Should there be a generic form as well as AD form? Form for each gene?
• Disease Hierarchy:
  DIS5N46O: Keratinopathic ichthyosis
  DISJPEP3: Epidermolytic ichthyosis
• Disease Identifiers:
  MONDO ID: MONDO_0007239
  MESH ID: D017488
  UMLS CUI: C0079153
  MedGen ID: 38179
  HPO ID: HP:0007475
  Orphanet ID: 312
  SNOMED CT ID: 254167000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KLKB1	TTN0PCX	Limited	Genetic Variation	[1]
ALOX12B	TTQ4QQH	Strong	Genetic Variation	[2]
GJB3	TTVRQ8L	Strong	Biomarker	[3]
GJB4	TTBRDFI	Strong	Biomarker	[3]
JUP	TTREN0G	Strong	Biomarker	[4]
TGM1	TT7A949	Strong	Genetic Variation	[5]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT2	OTG2EZEN	Limited	Genetic Variation	[6]
KRT9	OTA10UCH	moderate	Genetic Variation	[7]
ALOXE3	OT76J52A	Strong	Genetic Variation	[8]
ERCC2	OT1C8HQ4	Strong	Biomarker	[9]
KRT1	OTIOJWA4	Strong	Autosomal dominant	[10]
KRT10	OTSVRD3Q	Strong	Autosomal dominant	[10]
KRTAP5-1	OTVDLQ4J	Strong	Genetic Variation	[11]

References

• [1] JSID Tanioku Memorial Lecture 1996. Genetic disorders of keratins and their associated proteins.J Dermatol Sci. 1996 Dec;13(3):181-92. doi: 10.1016/s0923-1811(96)00568-3.
• [2] Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.J Invest Dermatol. 2007 Apr;127(4):829-34. doi: 10.1038/sj.jid.5700640. Epub 2006 Nov 30.
• [3] Clinical and genetic heterogeneity of erythrokeratoderma variabilis.J Invest Dermatol. 2005 Nov;125(5):920-7. doi: 10.1111/j.0022-202X.2005.23919.x.
• [4] Embryonic heart and skin defects in mice lacking plakoglobin.Dev Biol. 1996 Dec 15;180(2):780-5. doi: 10.1006/dbio.1996.0346.
• [5] Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.Eur J Hum Genet. 1998 Nov-Dec;6(6):589-96. doi: 10.1038/sj.ejhg.5200224.
• [6] Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Derm Venereol. 2016 May;96(4):473-8. doi: 10.2340/00015555-2299.
• [7] Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.Br J Dermatol. 2004 Jun;150(6):1096-103. doi: 10.1111/j.1365-2133.2004.05967.x.
• [8] Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.Congenit Anom (Kyoto). 2019 May;59(3):93-98. doi: 10.1111/cga.12303. Epub 2018 Jul 18.
• [9] Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations. Carcinogenesis. 2007 Mar;28(3):672-6. doi: 10.1093/carcin/bgl181. Epub 2006 Oct 17.
• [10] 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.
• [11] Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.J Dermatol Sci. 2002 Sep;29(3):195-200. doi: 10.1016/s0923-1811(02)00040-3.