Details of Disease | DrugMAP

General Information of Disease (ID: DIS8BKL5)

Disease Name	Wolman disease
Synonyms	liposomal acid lipase deficiency, Wolman type; deficiency of cholesterol esterase and triacylglycerol lipase; primary familial xanthomatosis with adrenal calcification; familial xanthomatosis; familial visceral xanthomatosis; primary familial xanthomatosis; lysosomal acid lipase deficiency; acid lipase deficiency; Wolman xanthomatosis; Wolman's disease; Wolman's or triglyceride storage type III disease; Wolman disease with hypolipoproteinemia and acanthocytosis; acid esterase deficiency; xanthomatosis, familial
Definition	Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.
Disease Hierarchy	DISO6W4Z: Lysosomal acid lipase deficiency DIS8BKL5: Wolman disease
Disease Identifiers	MONDO ID MONDO_0019148 MESH ID D015223 UMLS CUI C0043208 OMIM ID 620151 MedGen ID 53088 Orphanet ID 75233 SNOMED CT ID 82500001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RAB7A	TTF6WAQ	Limited	Altered Expression	[1]
CES1	TTMF541	Strong	Genetic Variation	[2]
CHIT1	TTDYX6T	Strong	Altered Expression	[3]
LIPF	TTKYZA9	Strong	Genetic Variation	[4]
SOAT2	TTAK0IN	Strong	Biomarker	[5]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
LIPA	DE2PJF5	Supportive	Autosomal recessive	[6]
------------------------------------------------------------------------------------

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CUL9	OTPUCLZT	Limited	Biomarker	[3]
RAB7B	OT60A0E9	Limited	Altered Expression	[1]
LIPA	OTIOLNHE	Supportive	Autosomal recessive	[6]
------------------------------------------------------------------------------------

References

1	Endothelial Rab7 GTPase mediates tumor growth and metastasis in lysosomal acid lipase-deficient mice.J Biol Chem. 2017 Nov 24;292(47):19198-19208. doi: 10.1074/jbc.M116.773093. Epub 2017 Sep 18.
2	Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.J Inherit Metab Dis. 1995;18(5):620-3. doi: 10.1007/BF02436008.
3	Evaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study.Atherosclerosis. 2019 Jun;285:49-54. doi: 10.1016/j.atherosclerosis.2019.03.013. Epub 2019 Mar 18.
4	Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer.J Hepatol. 2000 Mar;32(3):528-34. doi: 10.1016/s0168-8278(00)80407-9.
5	Impact of loss of SOAT2 function on disease progression in the lysosomal acid lipase-deficient mouse.Steroids. 2018 Feb;130:7-14. doi: 10.1016/j.steroids.2017.11.015. Epub 2017 Dec 13.
6	Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. Mol Genet Metab. 2012 Mar;105(3):450-6. doi: 10.1016/j.ymgme.2011.12.008. Epub 2011 Dec 17.