Details of Disease

Disease Name

Dorfman-Chanarin disease

triglyceride storage disease with impaired long-chain fatty acid oxidation; ichthyosiform erythroderma with leukocyte vacuolation; DCs; CDS; Chanarin-Dorfman disease; neutral lipid storage disease with ichthyotic; Dorfman Chanarin syndrome; ichthyotic neutral Lipid storage disease; neutral Lipid storage disease with ichthyosis; disorder of cornification 12 (neutral lipid storage type); Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; neutral lipid storage disease with ichthyosis; Chanarin-Dorfman Syndrome; NLSDI

Disease Hierarchy

DISY442E: Neutral lipid storage disease

DISKKT3R: Dorfman-Chanarin disease

Disease Identifiers

MONDO ID

MONDO_0010155

MESH ID

C536560

UMLS CUI

C0268238

OMIM ID

275630

MedGen ID

82780

Orphanet ID

98907

SNOMED CT ID

19604005

General Information of Disease (ID: DISKKT3R)

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
DGAT1	TT0GV3R	Limited	Biomarker	[1]
AGK	TTJETQC	Strong	Biomarker	[2]
PEMT	TT735V2	Strong	Genetic Variation	[3]
PLIN1	TTIV27N	Strong	Genetic Variation	[4]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC22A5	DT3HUVD	Limited	Biomarker	[5]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ETFB	OT6Q6FBD	Limited	Biomarker	[5]
ETFDH	OTOSKSFH	Limited	Biomarker	[5]
LPIN2	OTRRTMXX	Limited	Biomarker	[1]
AADAC	OT8VACT2	Strong	Biomarker	[6]
NBL1	OTT37U4O	Strong	Genetic Variation	[7]
PARN	OTTG4PE3	Strong	Genetic Variation	[7]
PNPLA1	OTUI609X	Strong	Biomarker	[8]
PNPLA2	OTR3ERMR	Strong	Genetic Variation	[9]
SHOX	OTE0YZJO	Strong	Genetic Variation	[10]
ABHD5	OTY829Z3	Definitive	Autosomal recessive	[11]
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⏷ Show the Full List of 10 DOT(s)

References

1	Inborn errors of cytoplasmic triglyceride metabolism.J Inherit Metab Dis. 2015 Jan;38(1):85-98. doi: 10.1007/s10545-014-9767-7. Epub 2014 Oct 10.
2	Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.J Inherit Metab Dis. 2013 May;36(3):411-25. doi: 10.1007/s10545-012-9509-7. Epub 2012 Jul 20.
3	Aberrant estrogen regulation of PEMT results in choline deficiency-associated liver dysfunction.J Biol Chem. 2011 Jan 14;286(2):1649-58. doi: 10.1074/jbc.M110.106922. Epub 2010 Nov 8.
4	Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene.Neuromuscul Disord. 2010 Jun;20(6):397-402. doi: 10.1016/j.nmd.2010.04.004. Epub 2010 May 14.
5	Clinical and genetic analysis of lipid storage myopathies.Muscle Nerve. 2009 Mar;39(3):333-42. doi: 10.1002/mus.21167.
6	Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5.Acta Paediatr. 2010 Oct;99(10):1592-4. doi: 10.1111/j.1651-2227.2010.01869.x.
7	Dive Risk Factors, Gas Bubble Formation, and Decompression Illness in Recreational SCUBA Diving: Analysis of DAN Europe DSL Data Base.Front Psychol. 2017 Sep 19;8:1587. doi: 10.3389/fpsyg.2017.01587. eCollection 2017.
8	Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed -O-acylceramide production by ABHD5.J Dermatol Sci. 2018 Dec;92(3):245-253. doi: 10.1016/j.jdermsci.2018.11.005. Epub 2018 Nov 20.
9	Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.Neuromuscul Disord. 2017 May;27(5):481-486. doi: 10.1016/j.nmd.2017.01.011. Epub 2017 Jan 17.
10	Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).Am J Med Genet. 2001 Winter;106(4):272-4. doi: 10.1002/ajmg.10228.
11	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.