Details of Disease

General Information of Disease (ID: DISO6W4Z)

Disease Name Lysosomal acid lipase deficiency
Synonyms LAL deficiency
Disease Hierarchy
DISXQRTX: Lysosomal lipid storage disorder
DISPGGVL: Syndromic dyslipidemia
DISO6W4Z: Lysosomal acid lipase deficiency
Disease Identifiers
MONDO ID
MONDO_0800449
MESH ID
D015223
UMLS CUI
C2936797
MedGen ID
423619
Orphanet ID
275761

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RAB7A TTF6WAQ Limited Altered Expression [1]
LIPA TTS8T1M Strong Genetic Variation [2]
SOAT2 TTAK0IN Strong Biomarker [3]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CUL9 OTPUCLZT Limited Biomarker [4]
RAB7B OT60A0E9 Limited Altered Expression [1]
------------------------------------------------------------------------------------

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 Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency.Ann Hepatol. 2019 Jul-Aug;18(4):646-650. doi: 10.1016/j.aohep.2018.07.005. Epub 2019 May 9.
3 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.
4 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.