Wolman Disease malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Wolman Disease:
Orphanet epidemiological data:51
lysosomal acid lipase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood
cholesteryl ester storage disease:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Endocrine diseases
ICD10: 28 27
OMIM:49 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 cholesteryl ester storage disease, is related to cholesterol ester storage disease and alopecia, and has symptoms including cognitive impairment, hepatomegaly and abdominal pain. An important gene associated with Wolman Disease is LIPA (Lipase A, Lysosomal Acid Type), and among its related pathways are cholesterol biosynthesis II (via 24,25-dihydrolanosterol) and Fat digestion and absorption. Affiliated tissues include liver, spleen and adrenal gland, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.
NIH Rare Diseases:45 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
UniProtKB/Swiss-Prot:67 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.
NINDS:46 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:
Genetics Home Reference:23 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.
Wikipedia:68 Lysosomal acid lipase deficiency (or LAL deficiency or LAL-D) happens when the body does not produce... more...
GeneReviews summary for NBK305870
Symptoms by clinical synopsis from OMIM:278000
Clinical features from OMIM:278000
Symptoms:51 (show all 24)
HPO human phenotypes related to Wolman Disease:(show all 37)
Drugs for Wolman Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 74)
Interventional clinical trials:(show all 25)
Search NIH Clinical Center for Wolman Disease
MalaCards organs/tissues related to Wolman Disease:33
Liver, Spleen, Adrenal gland, Bone, Bone marrow, Small intestine, Kidney
Articles related to Wolman Disease:(show all 50)
UniProtKB/Swiss-Prot genetic disease variations for Wolman Disease:67
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:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet