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Entry	Name	Description	Category	Gene
H00148	Lysosomal acid lipase deficiency	Lysosomal acid lipase (LAL) deficiency causes autosomal recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive ...	Inherited metabolic disorder, Lysosomal disease	LIPA [HSA:3988] [KO:K01052]
H00154	Hyperlipoproteinemia, type I	Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and ...	Inherited metabolic disorder	LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001]
H00571	Johanson-Blizzard syndrome	... inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen is the most consistent feature. Nasal wing hypoplasia, scalp defects, and sensorineural ...	Congenital malformation	UBR1 [HSA:197131] [KO:K10625]
H00833	Neurodegeneration with brain iron accumulation	... mutation in the pantothenate kinase 2 (PANK2) gene. Other forms are associated with a mutation in phospholipase A2 (PLA2G6), and FTL (neuroferritinopathy). A significant proportion of children with an NBIA ...	Nervous system disease	(NBIA1) PANK2 [HSA:80025] [KO:K09680] (NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343] (NBIA3) FTL [HSA:2512] [KO:K13625] (NBIA4) C19orf12 [HSA:83636] [KO:K23168] (NBIA5) WDR45 [HSA:11152] [KO:K22991] (NBIA6) COASY [HSA:80347] [KO:K02318] (NBIA7) REPS1 [HSA:85021] [KO:K20068] (NBIA8) CRAT [HSA:1384] [KO:K00624] (NBIA9) FTH1 [HSA:2495] [KO:K00522]
H01101	Combined lipase deficiency	Combined lipase deficiency (CLD) is characterized by very severe hypertriglyceridemia, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. CLD is caused by mutations in ...	Inherited metabolic disorder	LMF1 [HSA:64788] [KO:K23555]
H01297	Neutral lipid storage disease with myopathy	... cytoplasmic droplets. Neutral lipid storage disease with myopathy is the subgroup of NLSDM, characterized by mild myopathy, absence of ichthyosis and mutations in adipose triglyceride lipase (PNPLA2).	Inherited metabolic disorder	PNPLA2 [HSA:57104] [KO:K16816]
H01652	Seborrheic dermatitis	... to be mediated by free fatty acids, released from sebaceous triglycerides by fungal enzymes such as lipases. The lipid layer of Malassezia can also modulate pro-inflammatory cytokine production by keratinocytes ...	Immune system disease; Skin disease
H01784	Primary hyperchylomicronemia	... hypertriglyceridemia and is classically represented by two rare genetic disorders, i.e., familial lipoprotein lipase (LPL) deficiency and familial apolipoprotein C-II deficiency. Even rarer conditions such as circulating ...	Inherited metabolic disorder	LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001] LMF1 [HSA:64788] [KO:K23555] APOA5 [HSA:116519] [KO:K09025]
H02201	Mitochondrial myopathy with lactic acidosis	... with chronic lactic acidemia, growth failure, and nerve deafness. It has been reported that loss of function mutations in PNPLA8 encoding calcium-independent phospholipase A2 gamma cause this disease.	Inherited metabolic disorder	PNPLA8 [HSA:50640] [KO:K16815]
H02329	Hepatic lipase deficiency	Hepatic lipase deficiency is a rare autosomal recessive disorder, characterized by elevated levels of triglycerides and cholesterol. Some patients have premature cardiovascular disease. Missense mutations ...	Inherited metabolic disorder	LIPC [HSA:3990] [KO:K22283]
H02330	Pancreatic lipase deficiency	Congenital pancreatic lipase deficiency is a rare autosomal recessive exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal ...	Inherited metabolic disorder	PNLIP [HSA:5406] [KO:K14073]
H02440	Fleck retina, familial benign	... pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause FRFB.	Nervous system disease	PLA2G5 [HSA:5322] [KO:K01047]
H02504	Gastrointestinal ulceration, recurrent, with dysfunctional platelets	Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) is an inherited cytosolic phospholipase A2 (cPLA2) deficiency due to mutations in PLA2G4A. Patients have severe peptic ulcers and bleeding ...	Digestive system disease	PLA2G4A [HSA:5321] [KO:K16342]

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