LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033774
Disease: Pruritus
Pruritus 		0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		0.100 Biomarker phenotype HPO
CUI: C0042782
Disease: Visceromegaly
Visceromegaly 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.100 Biomarker disease HPO
CUI: C0271750
Disease: Adrenal calcification
Adrenal calcification 		0.100 Biomarker disease HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes 		0.100 Biomarker phenotype HPO
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		0.100 Biomarker phenotype HPO
CUI: C1856560
Disease: Bone-marrow foam cells
Bone-marrow foam cells 		0.100 Biomarker phenotype HPO
CUI: C1858430
Disease: Death in infancy
Death in infancy 		0.100 Biomarker phenotype HPO
CUI: C2675627
Disease: Acholic stool
Acholic stool 		0.100 GeneticVariation phenotype CLINVAR
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 Biomarker disease HPO
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.100 Biomarker disease HPO
CUI: C4317149
Disease: Vacuolated Lymphocyte Count
Vacuolated Lymphocyte Count 		0.100 Biomarker phenotype HPO
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 AlteredExpression disease BEFREE Lysosomal acid lipase (LAL) activity was measured using a new fluorometric assay in cultured skin fibroblasts from eight control subjects, two obligate heterozygotes for Wolman's disease (WD), one patient with WD, and one patient with cholesteryl ester storage disease (CESD). 10546 1976
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 Biomarker disease BEFREE Thus, this similar deficiency demonstrates that, in lymphoid cell lines, triolein and cholesteryl esters are hydrolysed (under the conditions used here) by a single enzyme, i.e., lysosomal acid lipase muted in Wolman's disease. 6329310 1984
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.120 AlteredExpression disease BEFREE Genetic variation of human mononuclear leukocyte lysosomal acid lipase activity. Relationship to atherosclerosis. 3778571 1986
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.030 AlteredExpression disease BEFREE Genetic variation of human mononuclear leukocyte lysosomal acid lipase activity. Relationship to atherosclerosis. 3778571 1986
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 GeneticVariation disease BEFREE Wolman's disease is a rare autosomal recessive disease due to lysosomal acid lipase complete deficiency (McKusick 27.800). 2633108 1990
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 CausalMutation disease CLINVAR Permeability of gentamicin and polymyxin B into the inside of Bacillus subtilis spores. 2129132 1990
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		1.000 Biomarker disease GENOMICS_ENGLAND In summary, the data presented provide evidence that deletion of the codons for amino acids 254-277 in the LAL mRNA in combination with a null allele cause the clinical expression of CESD in our patient. 8254026 1993