Wolman Disease malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 48Novoseek, 37MeSH, 66UMLS, 12diseasecard, 22GeneReviews, 25GTR, 47NINDS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Wolman Disease:
Orphanet epidemiological data:52
lysosomal acid lipase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood
cholesteryl ester storage disease:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Australia),1-9/1000000 (Germany); Age of onset: Infancy,Neonatal; Age of death: infantile
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Endocrine diseases
ICD10: 29 28
OMIM:50 Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester... (278000) more...
MalaCards based summary: Wolman Disease, also known as lysosomal acid lipase deficiency, is related to cholesterol ester storage disease and hemophagocytic lymphohistiocytosis, and has symptoms including hyperkeratosis, hepatic failure and nausea and vomiting. An important gene associated with Wolman Disease is LIPA (Lipase A, Lysosomal Acid Type), and among its related pathways are cholesterol biosynthesis I and triacylglycerol biosynthesis. Affiliated tissues include liver, spleen and adrenal gland, and related mouse phenotype cardiovascular system.
Genetics Home Reference:24 Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), and lymph nodes. In addition to fat deposits, calcium deposits in the adrenal glands are also seen.
NIH Rare Diseases:46 Cholesteryl ester storage disease is an inherited condition caused by the accumulation of harmful amounts of fats and cholesterol in cells and tissues throughout the body. the liver is most severely affected with cirrhosis and liver failure occurring in some patients. individuals with this condition also exhibit the accumulation of fatty deposits on the artery walls (atherosclerosis) which can narrow the arteries and increase the risk for heart attack or stroke. cholesteryl ester storage disease is caused by mutations in the lipa gene. it is inherited in an autosomal recessive manner. individuals with this condition may benefit from a low cholesterol diet. enzyme replacement therapy is currently being studied. last updated: 7/14/2015
NINDS:47 Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body?s cells and tissues. These fatty substances, called lipids, include fatty acids, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase:
UniProtKB/Swiss-Prot:68 Cholesteryl ester storage disease: A mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset. Wolman disease: A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year.
Wikipedia:69 Lysosomal acid lipase deficiency (or LAL deficiency or LAL-D) happens when the body does not produce... more...
GeneReviews summary for NBK305870
Diseases related to Wolman Disease via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Wolman Disease:
Symptoms by clinical synopsis from OMIM:278000
Clinical features from OMIM:278000
Symptoms:52 (show all 56)
HPO human phenotypes related to Wolman Disease:(show all 37)
UMLS symptoms related to Wolman Disease:sucrose intolerance
Drugs for Wolman Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 27)
Interventional clinical trials:(show all 28)
Search NIH Clinical Center for Wolman Disease
MalaCards organs/tissues related to Wolman Disease:34
Liver, Spleen, Adrenal gland, Bone marrow, Bone, Kidney, Small intestine
Articles related to Wolman Disease:(show top 50) (show all 52)
UniProtKB/Swiss-Prot genetic disease variations for Wolman Disease:68
Clinvar genetic disease variations for Wolman Disease:5
Search GEO for disease gene expression data for Wolman Disease.
Pathways related to Wolman Disease according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet