CESD
MCID: WLM001
MIFTS: 57

Wolman Disease (CESD) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Wolman Disease

Aliases & Descriptions for Wolman Disease:

Name: Wolman Disease 54 12 50 24 56 66 52 42 14 69
Lysosomal Acid Lipase Deficiency 54 23 50 24 25 56 66 29
Cholesteryl Ester Storage Disease 54 50 56 66 13 52
Lal Deficiency 23 50 24 25 56 66
Cholesterol Ester Storage Disease 50 56 66 69
Acid Lipase Deficiency 12 23 24 25
Lipa Deficiency 50 25 66
Cholesterol Ester Hydrolase Deficiency 50 66
Acid Esterase Deficiency 12 25
Familial Xanthomatosis 50 25
Wolman's Disease 12 51
Cesd 50 66
Primary Familial Xanthomatosis with Adrenal Calcification 25
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 69
Wolman's or Triglyceride Storage Type Iii Disease 12
Liposomal Acid Lipase Deficiency, Wolman Type 50
Familial Visceral Xanthomatosis 25
Primary Familial Xanthomatosis 25
Xanthomatosis, Familial 12
Wolman Xanthomatosis 12
Acid Lipase Disease 51
Wod 66

Characteristics:

Orphanet epidemiological data:

56
wolman disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Australia),1-9/1000000 (Germany); Age of onset: Infancy,Neonatal; Age of death: infantile;
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;

HPO:

32
wolman disease:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 278000
Disease Ontology 12 DOID:14497
ICD10 33 E75.5
NCIt 47 C61271
ICD10 via Orphanet 34 E75.5
MESH via Orphanet 43 D015223
UMLS via Orphanet 70 C0043208
UMLS 69 C0043208

Summaries for Wolman Disease

NINDS : 51 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: Wolman’s disease (also known as acid lipase deficiency) is an autosomal recessive disorder marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body). Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone,enlarged liver and grossly enlarged spleen, gastrointestinal problems including an excessive amount of fats in the stools, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, which causes them to harden. Both male and female infants are affected by the disorder. Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Children may also develop calcium deposits in the adrenal glands and jaundice. Onset varies, and the disorder may not be diagnosed until adulthood.

MalaCards based summary : Wolman Disease, also known as lysosomal acid lipase deficiency, is related to cholesterol ester storage disease and x-linked sideroblastic anemia with ataxia, and has symptoms including pruritus, cachexia and fever. An important gene associated with Wolman Disease is LIPA (Lipase A, Lysosomal Acid Type), and among its related pathways/superpathways are Metabolism and triacylglycerol biosynthesis. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and adrenal gland.

Genetics Home Reference : 25 Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, which typically causes liver disease. There are two forms of the condition. The most severe and rarest form begins in infancy. The less severe form can begin from childhood to late adulthood.

NIH Rare Diseases : 50 cholesteryl ester storage disease is is a type of lysosomal acid lipase deficiency. it is an inherited disease that causes a buildup of fats (lipids) in the tissues and organs of the body and calcium deposits in the adrenal glands. the liver is most severely affected in most cases. some people with cholesteryl ester storage disease may develop liver cirrhosis that progresses to liver failure. people with cholesteryl ester storage disease may also build up fatty deposits on the artery walls (atherosclerosis). this buildup 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. enzyme replacement therapy is available for the treatment of lysosomal acid lipase deficiencies, including cholesteryl ester storage disease, in the united states, the european union, and japan. a low cholesterol diet may also be helpful. last updated: 4/14/2017

OMIM : 54 Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester... (278000) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Lysosomal acid lipase deficiency (or LAL deficiency or LAL-D), also known as Wolman disease, happens... more...

GeneReviews: NBK305870

Related Diseases for Wolman Disease

Graphical network of the top 20 diseases related to Wolman Disease:



Diseases related to Wolman Disease

Symptoms & Phenotypes for Wolman Disease

Symptoms by clinical synopsis from OMIM:

278000

Clinical features from OMIM:

278000

Human phenotypes related to Wolman Disease:

56 32 (show top 50) (show all 58)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Occasional (29-5%),Occasional (29-5%) HP:0000989
2 cachexia 56 32 Occasional (29-5%),Frequent (79-30%) HP:0004326
3 fever 56 32 Occasional (29-5%) HP:0001945
4 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
5 vomiting 56 32 Occasional (29-5%) HP:0002013
6 diarrhea 56 32 Frequent (79-30%),Frequent (79-30%) HP:0002014
7 nausea and vomiting 56 32 Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0002017
8 hepatosplenomegaly 56 32 Very frequent (99-80%) HP:0001433
9 failure to thrive 56 32 Occasional (29-5%) HP:0001508
10 hypotension 56 32 Occasional (29-5%) HP:0002615
11 global developmental delay 56 32 Occasional (29-5%),Very frequent (99-80%) HP:0001263
12 splenomegaly 56 32 Frequent (79-30%),Frequent (79-30%) HP:0001744
13 hepatomegaly 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0002240
14 dehydration 56 32 Occasional (29-5%) HP:0001944
15 hypertriglyceridemia 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0002155
16 ascites 56 32 Occasional (29-5%),Frequent (79-30%) HP:0001541
17 anemia 56 32 Occasional (29-5%),Frequent (79-30%) HP:0001903
18 feeding difficulties 56 32 Occasional (29-5%) HP:0011968
19 growth delay 56 32 Frequent (79-30%) HP:0001510
20 elevated hepatic transaminases 56 32 Very frequent (99-80%) HP:0002910
21 hepatic fibrosis 56 32 Very frequent (99-80%) HP:0001395
22 cirrhosis 56 32 Occasional (29-5%) HP:0001394
23 jaundice 56 32 Very frequent (99-80%),Occasional (29-5%) HP:0000952
24 hypersplenism 56 32 Occasional (29-5%) HP:0001971
25 primary adrenal insufficiency 56 32 Occasional (29-5%) HP:0008207
26 hyponatremia 56 32 Occasional (29-5%) HP:0002902
27 hypercholesterolemia 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0003124
28 stroke 56 32 Frequent (79-30%) HP:0001297
29 hepatic failure 56 32 Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0001399
30 esophageal varix 56 32 Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0002040
31 abdominal distention 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0003270
32 renal salt wasting 56 32 Occasional (29-5%) HP:0000127
33 acidosis 56 32 Occasional (29-5%) HP:0001941
34 hyperkalemia 56 32 Occasional (29-5%) HP:0002153
35 hypernatriuria 56 32 Occasional (29-5%) HP:0012605
36 hypovolemia 56 32 Occasional (29-5%) HP:0011106
37 abnormal urine potassium concentration 56 32 Occasional (29-5%) HP:0012598
38 xanthelasma 56 32 Frequent (79-30%) HP:0001114
39 adrenal insufficiency 56 32 Occasional (29-5%) HP:0000846
40 psychomotor deterioration 56 32 Occasional (29-5%) HP:0002361
41 elevated alkaline phosphatase 56 32 Very frequent (99-80%) HP:0003155
42 steatorrhea 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0002570
43 precocious atherosclerosis 56 32 Frequent (79-30%) HP:0004416
44 microvesicular hepatic steatosis 56 32 Very frequent (99-80%) HP:0001414
45 vacuolated lymphocytes 56 32 Very frequent (99-80%) HP:0001922
46 bone-marrow foam cells 56 32 Occasional (29-5%),Occasional (29-5%) HP:0004333
47 malnutrition 56 32 Occasional (29-5%),Frequent (79-30%) HP:0004395
48 coronary atherosclerosis 56 32 Frequent (79-30%) HP:0004929
49 fatal liver failure in infancy 56 32 Very frequent (99-80%) HP:0006583
50 adrenal calcification 56 32 Very frequent (99-80%),Occasional (29-5%),Very frequent (99-80%) HP:0010512

Drugs & Therapeutics for Wolman Disease

Drugs for Wolman Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5 Liver Extracts Phase 2, Phase 3, Phase 1
6 Alkylating Agents Phase 2, Phase 3
7 Antilymphocyte Serum Phase 2, Phase 3
8 Antineoplastic Agents, Alkylating Phase 2, Phase 3
9 Antirheumatic Agents Phase 2, Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3
11 Methylprednisolone acetate Phase 2, Phase 3
12 Methylprednisolone Hemisuccinate Phase 2, Phase 3
13 Prednisolone acetate Phase 2, Phase 3
14 Prednisolone hemisuccinate Phase 2, Phase 3
15 Prednisolone phosphate Phase 2, Phase 3
16
alemtuzumab Approved, Investigational Phase 2 216503-57-0
17
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
18
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
19
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
20
Hydroxyurea Approved Phase 2 127-07-1 3657
21
Melphalan Approved Phase 2 148-82-3 4053 460612
22
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
23 tannic acid Approved, Nutraceutical Phase 2
24 Antifungal Agents Phase 2
25 Anti-Infective Agents Phase 2
26 Antimetabolites Phase 2
27 Antimetabolites, Antineoplastic Phase 2
28 Calcineurin Inhibitors Phase 2
29 Dermatologic Agents Phase 2
30 Nucleic Acid Synthesis Inhibitors Phase 2
31
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
32
Mycophenolic acid Approved 24280-93-1 446541
33 Anti-Bacterial Agents
34 Antibiotics, Antitubercular
35 Hydroxymethylglutaryl-CoA Reductase Inhibitors

Interventional clinical trials:

(show all 27)
id Name Status NCT ID Phase
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
2 A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Active, not recruiting NCT01757184 Phase 3
3 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3
4 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3
5 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
6 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2
7 Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency Active, not recruiting NCT01488097 Phase 2
8 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
9 Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Patients With Lysosomal Acid Lipase Deficiency Completed NCT01307098 Phase 1
10 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
11 Identification of Undiagnosed Lysosomal Acid Lipase Deficiency Unknown status NCT01716728
12 Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study Unknown status NCT01791452
13 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
14 An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype Completed NCT01528917
15 Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up Completed NCT01884220
16 A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype Completed NCT01358370
17 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092
18 National Lysosomal Acid Lipase Deficiency Study Recruiting NCT02372513
19 Biomarker for Wolman Disease Recruiting NCT02383641
20 Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients Recruiting NCT02851550
21 Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. Recruiting NCT02852304
22 Lysosomal Acid Lipase (LAL) Deficiency Registry Recruiting NCT01633489
23 Hypertriglyceridaemia - Cause and Effects Recruiting NCT02195050
24 Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02112994
25 Screening for Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02926872
26 An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency No longer available NCT02376751
27 A Study to Identify and Characterize LAL-D Patients in High-risk Populations Terminated NCT02345421

Search NIH Clinical Center for Wolman Disease

Cochrane evidence based reviews: wolman disease

Genetic Tests for Wolman Disease

Genetic tests related to Wolman Disease:

id Genetic test Affiliating Genes
1 Lysosomal Acid Lipase Deficiency 29 24 LIPA
2 Wolman Disease 24 LIPA

Anatomical Context for Wolman Disease

MalaCards organs/tissues related to Wolman Disease:

39
Liver, Spleen, Adrenal Gland, Heart, Bone, Bone Marrow, Brain

Publications for Wolman Disease

Articles related to Wolman Disease:

(show top 50) (show all 54)
id Title Authors Year
1
Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development. ( 28401034 )
2017
2
Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease. ( 28220406 )
2017
3
Secondary hemophagocytic lymphohistiocytosis in an infant with Wolman disease Hemophagocytosis and Wolman disease. ( 27094156 )
2016
4
A rare constellation of imaging findings in Wolman disease. ( 26843764 )
2015
5
Wolman disease in an infant. ( 24521666 )
2014
6
Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease. ( 24798600 )
2014
7
Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease. ( 24508470 )
2014
8
Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation. ( 24844354 )
2014
9
Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease. ( 24777844 )
2014
10
A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease. ( 24295952 )
2013
11
New Diagnostic Method for Lysosomal Acid Lipase Deficiency and the Need to Recognize its Manifestation in Infants (Wolman Disease). ( 24048164 )
2013
12
Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. ( 23583223 )
2013
13
Structural bases of Wolman disease and cholesteryl ester storage disease. ( 22138108 )
2012
14
Intragenic deletion as a novel type of mutation in Wolman disease. ( 21963785 )
2011
15
Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. ( 21291321 )
2011
16
Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. ( 18776925 )
2009
17
Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. ( 18413899 )
2008
18
Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. ( 17033804 )
2007
19
Wolman disease: diagnosis by leucocyte acid lipase estimation. ( 15876766 )
2005
20
Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy. ( 15200275 )
2004
21
Isolated fetal ascites caused by Wolman disease. ( 12666227 )
2003
22
The Middle-East connection of Wolman Disease. ( 12070591 )
2002
23
Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. ( 11441129 )
2001
24
Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase. ( 11177564 )
2001
25
Wolman disease successfully treated by bone marrow transplantation. ( 11019848 )
2000
26
Fatal genetic defect causing Wolman disease. ( 10070628 )
1999
27
Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. ( 9925650 )
1999
28
Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease. ( 10518290 )
1999
29
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. ( 9684740 )
1998
30
Pediatric case of the day. Wolman disease (primary familial xanthomatosis with involvement and clacification of the adrenal glands). ( 9536498 )
1998
31
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. ( 8617513 )
1996
32
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred. ( 8864960 )
1996
33
A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease. ( 8956047 )
1996
34
Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease. ( 8767467 )
1996
35
[Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease]. ( 8577049 )
1995
36
Wolman disease and its treatment. ( 7789014 )
1995
37
Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. ( 8598644 )
1995
38
New pathogenetic hypothesis for Wolman disease: possible role of oxidized low-density lipoproteins in adrenal necrosis and calcification. ( 8037680 )
1994
39
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. ( 8146180 )
1994
40
In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3. ( 8432549 )
1993
41
Wolman disease: suggestions for effective treatment. ( 1428155 )
1992
42
Wolman disease: suggestions for effective treatment. ( 1306349 )
1992
43
Therapeutic trial in Wolman disease. ( 1306350 )
1992
44
Proposed treatment for infants with Wolman disease. ( 2726341 )
1989
45
A Chinese case of Wolman disease. ( 2515376 )
1989
46
Independence of triacylglycerol-containing compartments in cultured fibroblasts from Wolman disease and multisystemic lipid storage myopathy. ( 2737299 )
1989
47
First trimester prenatal diagnosis of Wolman disease. ( 2512430 )
1989
48
Wolman disease in twins. ( 3986053 )
1985
49
Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency. ( 6097111 )
1984
50
CT findings in acid lipase deficiency: wolman disease and cholesteryl ester storage disease. ( 6886132 )
1983

Variations for Wolman Disease

UniProtKB/Swiss-Prot genetic disease variations for Wolman Disease:

66
id Symbol AA change Variation ID SNP ID
1 LIPA p.His129Pro VAR_004248
2 LIPA p.His129Arg VAR_004249
3 LIPA p.Leu200Pro VAR_004250 rs121965086

ClinVar genetic disease variations for Wolman Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LIPA NM_000235.3(LIPA): c.599T> C (p.Leu200Pro) single nucleotide variant Pathogenic rs121965086 GRCh37 Chromosome 10, 90984925: 90984925
2 LIPA NM_000235.3(LIPA): c.796G> T (p.Gly266Ter) single nucleotide variant Pathogenic rs267607218 GRCh37 Chromosome 10, 90983467: 90983467
3 LIPA LIPA, 934G-A single nucleotide variant Pathogenic
4 LIPA NM_000235.3(LIPA): c.594dupT (p.Ala199Cysfs) duplication Pathogenic/Likely pathogenic rs780495201 GRCh37 Chromosome 10, 90984930: 90984930
5 LIPA NM_001127605.2(LIPA): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic rs587778878 GRCh37 Chromosome 10, 90988125: 90988125
6 LIPA NM_000235.3(LIPA): c.894G> A (p.Gln298=) single nucleotide variant Pathogenic/Likely pathogenic rs116928232 GRCh38 Chromosome 10, 89222511: 89222511
7 LIPA NM_000235.3(LIPA): c.253C> T (p.Gln85Ter) single nucleotide variant Pathogenic rs797045094 GRCh38 Chromosome 10, 89228375: 89228375
8 LIPA NM_000235.3(LIPA): c.398delC (p.Ser133Terfs) deletion Pathogenic rs756016704 GRCh37 Chromosome 10, 90987987: 90987987

Expression for Wolman Disease

Search GEO for disease gene expression data for Wolman Disease.

Pathways for Wolman Disease

Pathways related to Wolman Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 CYP11A1 GOT1 LIPA LIPF LIPG SOAT2
2
Show member pathways
11.51 LIPF LIPG
3
Show member pathways
11.46 LIPA LIPF LIPG SOAT2
4 11.34 CYP11A1 STAR
5
Show member pathways
11.27 CYP11A1 STAR
6
Show member pathways
11.14 LIPA SOAT2
7 10.85 CYP11A1 STAR

GO Terms for Wolman Disease

Cellular components related to Wolman Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 CYP11A1 GOT1 LIPF STAR

Biological processes related to Wolman Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.48 CYP11A1 SOAT2
2 cellular response to insulin stimulus GO:0032869 9.46 GOT1 STAR
3 response to nutrient GO:0007584 9.43 LIPG STAR
4 cholesterol homeostasis GO:0042632 9.4 LIPG SOAT2
5 steroid biosynthetic process GO:0006694 9.37 CYP11A1 STAR
6 lipid catabolic process GO:0016042 9.33 LIPA LIPF LIPG
7 low-density lipoprotein particle clearance GO:0034383 9.32 LIPA SOAT2
8 C21-steroid hormone biosynthetic process GO:0006700 9.26 CYP11A1 STAR
9 cholesterol metabolic process GO:0008203 9.13 CYP11A1 SOAT2 STAR
10 lipid metabolic process GO:0006629 9.02 CYP11A1 LIPA LIPF LIPG SOAT2

Molecular functions related to Wolman Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 9.16 SOAT2 STAR
2 hydrolase activity, acting on ester bonds GO:0016788 8.96 LIPA LIPF
3 triglyceride lipase activity GO:0004806 8.62 LIPF LIPG

Sources for Wolman Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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