Lysosomal acid lipase deficiency

Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.



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Narrow down the case reports



Total: 23 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(40.0%)		 29773783
(5985739)
 Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms.
Canbay A, Muller MN, Philippou S, Gerken G, Tromm A.
Am J Case Rep. 2018;19:577-581.
Cirrhosis Splenomegaly Thrombocytopenia
GLB1 LIPA
Cholesterol Ester Storage Disease Esophageal and Gastric Varices Fatal Outcome Females Homo sapiens Liver Cirrhosis Multiple Organ Failure
2
(38.0%)		 28538091
 Wolman Disease: A Mimic of Infant Leukemia.
Gopakumar KG, Thankamony P, Nampoothiri S, Bali D, Raj J, A Vasudevan J, K Nair R.
J Pediatr Hematol Oncol. 2017;39(8):e489-e492.
Pallor Hepatosplenomegaly Leukemia
LIPA
c|DEL|1180_1184|
Biopsy Bone Marrow Differential Diagnosis Hepatomegaly Homo sapiens Homozygote Infant Male Radiography, Abdominal Sequence Deletion Wolman Disease
3
(32.9%)		 27392817
 Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency.
Sreekantam S, Nicklaus-Wollenteit I, Orr J, Sharif K, Vijay S, McKiernan PJ, Santra S.
Pediatr Transplant. 2016;20(6):851-4.
Hepatosplenomegaly Hyperlipidemia
LIPA
Child Homo sapiens Male Wolman Disease
3
(32.9%)		 18174560
 Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India.
Bindu PS, Taly AB, Christopher R, BharatKumar PV, Panda S, Netravathi M, Ravishankar S, Mahadevan A, Yasha TC, Gayathri N.
J Child Neurol. 2007;22(12):1401-4.
Ptosis Hepatosplenomegaly Hyperlipidemia
LIPA
Blepharoptosis Child, Preschool Cholesterol Ester Storage Disease Evoked Potentials, Motor Fat-Restricted Diet Glucocorticoids Hepatomegaly Homo sapiens India Infant Lipids Male Ophthalmoplegia Radiography, Abdominal Rare Diseases Sibling Splenomegaly Vomiting Wolman Disease X-Ray Computed Tomography
3
(32.9%)		 16848116
 Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin.
Dalgic B, Sari S, Gunduz M, Ezgu F, Tumer L, Hasanoglu A, Akyol G.
Turk J Pediatr. 2006;48(2):148-51.
Hepatosplenomegaly Hyperlipidemia
HMGCR
Biopsy Child, Preschool Cholesterol Ester Storage Disease Hepatomegaly Homo sapiens Hydroxymethylglutaryl-CoA Reductase Inhibitors Male
3
(32.9%)		 7751811
 A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease.
Ameis D, Brockmann G, Knoblich R, Merkel M, Ostlund RE Jr, Yang JW, Coates PM, Cortner JA, Feinman SV, Greten H.
J Lipid Res. 1995;36(2):241-50.
Hepatosplenomegaly Hyperlipidemia
LIPA
rs116928232
Adult Alleles Base Sequence Cholesterol Ester Storage Disease DNA Primers Gene Deletion Homo sapiens Lysosomes Male Molecular Sequence Data Sequence Analysis
7
(26.7%)		 31249784
 Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report.
Soll D, Spira D, Hollstein T, Haberbosch L, Demuth I, Steinhagen-Thiessen E, Bobbert T, Spranger J, Kassner U.
Mol Genet Metab Rep. 2019;20:100479.
Hepatomegaly
7
(26.7%)		 29884776
(6024709)
 Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia.
Botero V, Garcia VH, Gomez-Duarte C, Aristizabal AM, Arrunategui AM, Echeverri GJ, Pachajoa H.
Am J Case Rep. 2018;19:669-672.
Hepatomegaly
LIPA
c|SUB|G|894|A;RS#:116928232
Colombia Fatty Liver Hepatomegaly Homo sapiens Male Mutation Wolman Disease
7
(26.7%)		 29302509
(5750382)
 A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency.
Kim KY, Kim JW, Lee KJ, Park E, Kang GH, Choi YH, Kim WS, Ko JM, Moon JS, Ko JS.
Pediatr Gastroenterol Hepatol Nutr. 2017;20(4):263-267.
Hepatosplenomegaly
LIPA
p|SUB|T|177|I
7
(26.7%)		 29091130
(5849380)
 IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT.
Tommaso AMA, Barra FFC, Hessel G, Moreno CA, Giugliani R, Escanhoela CAF.
Rev Paul Pediatr. 2018;36(1):4.
Hepatic steatosis Hepatomegaly
LIPA
Biopsy Child, Preschool Cholesterol Ester Storage Disease Females Homo sapiens Liver Wolman Disease
        

Phenotype(s) retrieved from Orphanet

    Total: 49

HPO ID Term Frequency
HP:0000952 Jaundice Very frequent (99-80%)
HP:0000991 Xanthomatosis Very frequent (99-80%)
HP:0001395 Hepatic fibrosis Very frequent (99-80%)
HP:0001399 Hepatic failure Very frequent (99-80%)
HP:0001410 Decreased liver function Very frequent (99-80%)
HP:0001414 Microvesicular hepatic steatosis Very frequent (99-80%)
HP:0001433 Hepatosplenomegaly Very frequent (99-80%)
HP:0001922 Vacuolated lymphocytes Very frequent (99-80%)
HP:0002017 Nausea and vomiting Very frequent (99-80%)
HP:0002027 Abdominal pain Very frequent (99-80%)
HP:0002155 Hypertriglyceridemia Very frequent (99-80%)
HP:0002570 Steatorrhea Very frequent (99-80%)
HP:0002910 Elevated hepatic transaminase Very frequent (99-80%)
HP:0003124 Hypercholesterolemia Very frequent (99-80%)
HP:0003155 Elevated alkaline phosphatase Very frequent (99-80%)
HP:0003270 Abdominal distention Very frequent (99-80%)
HP:0006583 Fatal liver failure in infancy Very frequent (99-80%)
HP:0010512 Adrenal calcification Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0001114 Xanthelasma Frequent (79-30%)
HP:0001297 Stroke Frequent (79-30%)
HP:0001824 Weight loss Frequent (79-30%)
HP:0002014 Diarrhea Frequent (79-30%)
HP:0002040 Esophageal varix Frequent (79-30%)
HP:0004416 Precocious atherosclerosis Frequent (79-30%)
HP:0004929 obsolete Coronary atherosclerosis Frequent (79-30%)
HP:0000127 Renal salt wasting Occasional (29-5%)
HP:0000989 Pruritus Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0001541 Ascites Occasional (29-5%)
HP:0001903 Anemia Occasional (29-5%)
HP:0001941 Acidosis Occasional (29-5%)
HP:0001944 Dehydration Occasional (29-5%)
HP:0001971 Hypersplenism Occasional (29-5%)
HP:0002013 Vomiting Occasional (29-5%)
HP:0002092 Pulmonary arterial hypertension Occasional (29-5%)
HP:0002153 Hyperkalemia Occasional (29-5%)
HP:0002361 Psychomotor deterioration Occasional (29-5%)
HP:0002615 Hypotension Occasional (29-5%)
HP:0002902 Hyponatremia Occasional (29-5%)
HP:0004326 Cachexia Occasional (29-5%)
HP:0004333 Bone-marrow foam cells Occasional (29-5%)
HP:0004395 Malnutrition Occasional (29-5%)
HP:0008207 Primary adrenal insufficiency Occasional (29-5%)
HP:0011106 Hypovolemia Occasional (29-5%)
HP:0011968 Feeding difficulties Occasional (29-5%)
HP:0012598 Abnormal urine potassium concentration Occasional (29-5%)
HP:0012605 Hypernatriuria Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0001433 Hepatosplenomegaly 3
HP:0002240 Hepatomegaly 2
HP:0001399 Hepatic failure 1
HP:0001508 Failure to thrive 1
HP:0001909 Leukemia 1
HP:0002013 Vomiting 1
HP:0003077 Hyperlipidemia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID