Details of Disease | DrugMAP

General Information of Disease (ID: DISWMIO6)

Disease Name	Autosomal recessive congenital ichthyosis 1
Synonyms	ichthyosis, lamellar, 1; ichthyosis congenita; desquamation of newborn; ichthyosis lamellar 1; ichthyosis, congenital, autosomal recessive 1; ichthyosis congenita 2; collodion foetus; lamellar ichthyosis, type 1; ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution; lamellar exfoliation of newborn; LI1; ichthyosis, lamellar, 1, formerly; collodion baby, self-healing; collodion fetus; bathing suit ichthyosis; ARCI1; autosomal recessive congenital ichthyosis type 1; autosomal recessive congenital ichthyosis 1; ichthyosis, congenital, autosomal recessive type 1
Definition	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.
Disease Hierarchy	DISVMSR6: Autosomal recessive congenital ichthyosis DISWMIO6: Autosomal recessive congenital ichthyosis 1
Disease Identifiers	MONDO ID MONDO_0009441 MESH ID D017490 UMLS CUI C4551630 OMIM ID 242300 MedGen ID 1635401

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TGM1	TT7A949	Disputed	Genetic Variation	[1]
ALOX12B	TTQ4QQH	Strong	Biomarker	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA12	DT7LDG0	Strong	Biomarker	[3]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SULT2B1	DEZBN53	Strong	CausalMutation	[4]
TGM1	DEFJOAG	Definitive	Autosomal recessive	[5]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALOXE3	OT76J52A	Strong	Biomarker	[2]
TGM1	OTB8URRI	Definitive	Autosomal recessive	[5]
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References

1	Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.JAMA Dermatol. 2017 Jun 1;153(6):537-543. doi: 10.1001/jamadermatol.2017.0202.
2	Discovery of potent and selective inhibitors of human platelet-type 12- lipoxygenase.J Med Chem. 2011 Aug 11;54(15):5485-97. doi: 10.1021/jm2005089. Epub 2011 Jul 8.
3	Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.J Invest Dermatol. 2006 Jul;126(7):1518-23. doi: 10.1038/sj.jid.5700295. Epub 2006 May 4.
4	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.
5	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.