Details of Disease

General Information of Disease (ID: DISP943Y)

Disease Name	Sjogren-Larsson syndrome
Synonyms	FADH deficiency; FALDH deficiency; Sjgren-Larsson syndrome; FAO deficiency; ichthyosis, spastic neurologic disorder, and oligophrenia; fatty aldehyde dehydrogenase deficiency; fatty alcohol:NAD+ oxidoreductase deficiency; SLS; Senior-Lken Syndrome; Sjogren Larsson syndrome; fatty acid alcohol oxidoreductase deficiency; Sjogren-Larsson's syndrome; Sjogren-Larsson syndrome
Disease Class	5C52: Inborn lipid metabolism error
Definition	A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
Disease Hierarchy	DISVY1TT: Leukodystrophy DIS1L24B: Eye degenerative disorder DISPGGVL: Syndromic dyslipidemia DISCPWH9: Autosomal recessive disease DISTXWNT: Integumentary system disorder DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis DISP943Y: Sjogren-Larsson syndrome
ICD Code	ICD-11 ICD-11: 5C52.03 Expand ICD-11 '5C52.03
Disease Identifiers	MONDO ID MONDO_0010031 MESH ID D016111 UMLS CUI C0037231 OMIM ID 270200 MedGen ID 11443 Orphanet ID 816 SNOMED CT ID 111303009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Reproxalap	DMDEJX9	Phase 3	NA	[1]
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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
ALDH3A2	TTB6UM0	Strong	Genetic Variation	[2]
FANCA	TTV5HJS	Strong	Biomarker	[3]
TXNRD1	TTR7UJ3	Strong	Genetic Variation	[4]
ALDH3A2	TTB6UM0	Definitive	Autosomal recessive	[5]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ADH5	DEIOH6A	Strong	Genetic Variation	[4]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNAJC13	OTYAVVJ6	moderate	Genetic Variation	[6]
NPHP3	OT8U8ELA	moderate	Genetic Variation	[6]
NXPH3	OTG82U2K	moderate	Genetic Variation	[6]
ALDH3A1	OTAYZZE6	Strong	Genetic Variation	[7]
FAH	OTGZA1YR	Strong	Biomarker	[3]
HSD17B6	OTSB55D2	Strong	Genetic Variation	[4]
IQCB1	OTYQ28V9	Strong	Genetic Variation	[8]
SCLT1	OT2ZSSP4	Strong	Genetic Variation	[9]
ALDH3A2	OT714BUO	Definitive	Autosomal recessive	[5]
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⏷ Show the Full List of 9 DOT(s)

References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.Acta Ophthalmol. 2019 Sep;97(6):e877-e886. doi: 10.1111/aos.14095. Epub 2019 Mar 29.
3	Isolation of animal cell mutants defective in long-chain fatty aldehyde dehydrogenase. Sensitivity to fatty aldehydes and Schiff's base modification of phospholipids: implications for Sj-ogren-Larsson syndrome.J Biol Chem. 1997 Sep 19;272(38):23532-9. doi: 10.1074/jbc.272.38.23532.
4	Sjogren-Larsson syndrome associated hypermelanosis.J Cosmet Dermatol. 2020 Apr;19(4):789-798. doi: 10.1111/jocd.13209. Epub 2019 Nov 7.
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.
6	Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Lken syndrome type 3.Cytogenet Genome Res. 2002;97(3-4):163-6. doi: 10.1159/000066617.
7	Large contiguous gene deletions in Sjgren-Larsson syndrome.Mol Genet Metab. 2011 Nov;104(3):356-61. doi: 10.1016/j.ymgme.2011.05.015. Epub 2011 May 30.
8	Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype.Mol Vis. 2018 Dec 30;24:834-846. eCollection 2018.
9	Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Lken syndrome.Sci Rep. 2018 Nov 13;8(1):16733. doi: 10.1038/s41598-018-35152-6.