MCID: WLM001
MIFTS: 53

Wolman Disease malady

Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases categories

Summaries for Wolman Disease

About this section


OMIM:45 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 atherosclerosis, and has symptoms including hyperkeratosis, hepatic failure and nausea and vomiting. An important gene associated with Wolman Disease is LIPA (lipase A, lysosomal acid, cholesterol esterase). The compounds cholesteryl oleate and TG(18:0/18:1(9Z)/20:0)[iso6] have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and adrenal gland.

Genetics Home Reference:21 Cholesteryl ester storage 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 cells and tissues throughout the body. The liver is most severely affected. An enlarged liver (hepatomegaly) is one of the key signs of the disease. In addition, chronic liver disease (cirrhosis) can develop. An accumulation of fatty deposits on the artery walls (atherosclerosis) is usually seen early in life. The deposits narrow the arteries and can eventually block them, increasing the chance of having a heart attack or stroke.

NIH Rare Diseases:41 Wolman disease is a type of lysosomal storage disorder. it is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. the condition is severe and life-threatening, however new therapies, such as hematopoietic cell transplantation, have shown promise in improving the outlook of children with this disease. last updated: 10/1/2008

NINDS:42 Acid lipase disease 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 waxes, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase:

Wikipedia:63 Wolman disease (also known as Wolman?s disease or early onset lysosomal acid lipase deficiency) is a... more...

Aliases & Classifications for Wolman Disease

About this section
Sources:
45OMIM, 9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 20GeneTests, 22GTR, 10diseasecard, 42NINDS, 33MeSH, 38NCIt, 55SNOMED-CT, 26ICD10 via Orphanet, 34MESH via Orphanet, 61UMLS via Orphanet
See all sources

Wolman Disease, Aliases & Descriptions:

Name: Wolman Disease 45 9 41 21 11 43 47 60
Cholesteryl Ester Storage Disease 45 10 41 21 43 47
Lysosomal Acid Lipase Deficiency 45 41 20 21 47 22
Cholesterol Ester Storage Disease 21 47 60
Lal Deficiency 41 21 47
Familial Xanthomatosis 41 21
Wolman's 9 20
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 60
Liposomal Acid Lipase Deficiency, Wolman Type 21
Cholesterol Ester Hydrolase Deficiency 21
Triglyceride Storage Type Iii Disease 9
 
Acid Lipase Deficiency, Nos 9
Acid Esterase Deficiency 9
Xanthomatosis, Familial 9
Acid Lipase Deficiency 21
Wolman Xanthomatosis 9
Acid Lipase Disease 42
Wolman’s Disease 42
Wolman's Disease 9
Lipa Deficiency 21
Cesd 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
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
wolman disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

OMIM45 278000
Disease Ontology9 DOID:14497
MeSH33 D015223
NCIt38 C61271
Orphanet47 275761, 75234, 75233
ICD10 via Orphanet26 E75.5
MESH via Orphanet34 D015223
UMLS via Orphanet61 C0043208

Related Diseases for Wolman Disease

About this section

Diseases related to Wolman Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1cholesterol ester storage disease11.1
2atherosclerosis10.3
3splenic abscess10.3
4diarrhea10.3
5lipodystrophy10.3
6vascular disease10.3
7splenomegaly10.3
8lipid storage disease10.3
9endotheliitis10.3
10liver cirrhosis10.3
11histiocytosis10.3
12cerebrotendinous xanthomatosis10.3
13hypolipoproteinemia10.2
14hematopoietic stem cell transplantation10.1
15hemophagocytic lymphohistiocytosis10.1
16hepatitis10.1
17hypogonadism10.1
18myopathy10.1
19nephrotic syndrome10.1
20xanthomatosis10.1

Graphical network of diseases related to Wolman Disease:



Diseases related to wolman disease

Symptoms for Wolman Disease

About this section

Symptoms by clinical synopsis from OMIM:

278000

Clinical features from OMIM:

278000

Symptoms:

 47 (show all 24)
  • hepatomegaly/liver enlargement (excluding storage disease)
  • autosomal recessive inheritance
  • xanthomas/lipomas
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • malabsorption/chronic diarrhea/steatorrhea
  • congenital hepatic fibrosis
  • hepatocellular liver disease/hepatic failure
  • splenomegaly
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • pruritus/itching
  • esophageal varices
  • cirrhosis
  • hepatitis/icterus/cholestasis
  • adrenal glands anomalies
  • obnubilation/coma/lethargia/desorientation
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • acute abdominal pain/colic
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ascitis
  • anaemia
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling

HPO human phenotypes related to Wolman Disease:

(show all 38)
id Description Frequency HPO Source Accession
1 hyperkeratosis hallmark (90%) HP:0000962
2 hepatic failure hallmark (90%) HP:0001399
3 nausea and vomiting hallmark (90%) HP:0002017
4 malabsorption hallmark (90%) HP:0002024
5 abdominal pain hallmark (90%) HP:0002027
6 hepatomegaly hallmark (90%) HP:0002240
7 cognitive impairment hallmark (90%) HP:0100543
8 ascites typical (50%) HP:0001541
9 splenomegaly typical (50%) HP:0001744
10 weight loss typical (50%) HP:0001824
11 anemia typical (50%) HP:0001903
12 multiple lipomas typical (50%) HP:0001012
13 hepatic failure typical (50%) HP:0001399
14 nausea and vomiting typical (50%) HP:0002017
15 malabsorption typical (50%) HP:0002024
16 congenital hepatic fibrosis typical (50%) HP:0002612
17 atherosclerosis typical (50%) HP:0002621
18 abnormality of the adrenal glands occasional (7.5%) HP:0000834
19 multiple lipomas occasional (7.5%) HP:0001012
20 abnormality of temperature regulation occasional (7.5%) HP:0004370
21 pruritus occasional (7.5%) HP:0000989
22 cirrhosis occasional (7.5%) HP:0001394
23 esophageal varix occasional (7.5%) HP:0002040
24 reduced consciousness/confusion occasional (7.5%) HP:0004372
25 autosomal recessive inheritance HP:0000007
26 hepatic fibrosis HP:0001395
27 hepatosplenomegaly HP:0001433
28 failure to thrive HP:0001508
29 protuberant abdomen HP:0001538
30 vacuolated lymphocytes HP:0001922
31 vomiting HP:0002013
32 diarrhea HP:0002014
33 esophageal varix HP:0002040
34 pulmonary hypertension HP:0002092
35 steatorrhea HP:0002570
36 hypercholesterolemia HP:0003124
37 bone-marrow foam cells HP:0004333
38 adrenal calcification HP:0010512

Drugs & Therapeutics for Wolman Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Wolman Disease

Search NIH Clinical Center for Wolman Disease

Genetic Tests for Wolman Disease

About this section

Genetic tests related to Wolman Disease:

id Genetic test Affiliating Genes
1 Lysosomal Acid Lipase Deficiency20 22 LIPA
2 Wolman Disease20 LIPA

Anatomical Context for Wolman Disease

About this section

MalaCards organs/tissues related to Wolman Disease:

31
Liver, Spleen, Adrenal gland, Heart, Bone marrow, Bone, Skin, Brain

Animal Models for Wolman Disease or affiliated genes

About this section

Publications for Wolman Disease

About this section

Articles related to Wolman Disease:

(show all 49)
idTitleAuthorsYear
1
Wolman disease in an infant. (24521666)
2014
2
Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease. (24798600)
2014
3
Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation. (24844354)
2014
4
Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease. (24777844)
2014
5
Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease. (24508470)
2014
6
Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. (23583223)
2013
7
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
8
New Diagnostic Method for Lysosomal Acid Lipase Deficiency and the Need to Recognize its Manifestation in Infants (Wolman Disease). (24048164)
2013
9
Structural bases of Wolman disease and cholesteryl ester storage disease. (22138108)
2012
10
Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. (21291321)
2011
11
Intragenic deletion as a novel type of mutation in Wolman disease. (21963785)
2011
12
Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. (18776925)
2009
13
Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. (18413899)
2008
14
Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. (17033804)
2007
15
Wolman disease: diagnosis by leucocyte acid lipase estimation. (15876766)
2005
16
Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy. (15200275)
2004
17
Isolated fetal ascites caused by Wolman disease. (12666227)
2003
18
The Middle-East connection of Wolman Disease. (12070591)
2002
19
Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. (11441129)
2001
20
Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase. (11177564)
2001
21
Wolman disease successfully treated by bone marrow transplantation. (11019848)
2000
22
Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease. (10518290)
1999
23
Fatal genetic defect causing Wolman disease. (10070628)
1999
24
Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. (9925650)
1999
25
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. (9684740)
1998
26
Pediatric case of the day. Wolman disease (primary familial xanthomatosis with involvement and clacification of the adrenal glands). (9536498)
1998
27
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. (8617513)
1996
28
A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease. (8956047)
1996
29
Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease. (8767467)
1996
30
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred. (8864960)
1996
31
Wolman disease and its treatment. (7789014)
1995
32
Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. (8598644)
1995
33
Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease]. (8577049)
1995
34
New pathogenetic hypothesis for Wolman disease: possible role of oxidized low-density lipoproteins in adrenal necrosis and calcification. (8037680)
1994
35
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. (8146180)
1994
36
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
37
Therapeutic trial in Wolman disease. (1306350)
1992
38
Wolman disease: suggestions for effective treatment. (1428155)
1992
39
Wolman disease: suggestions for effective treatment. (1306349)
1992
40
First trimester prenatal diagnosis of Wolman disease. (2512430)
1989
41
A Chinese case of Wolman disease. (2515376)
1989
42
Independence of triacylglycerol-containing compartments in cultured fibroblasts from Wolman disease and multisystemic lipid storage myopathy. (2737299)
1989
43
Proposed treatment for infants with Wolman disease. (2726341)
1989
44
Wolman disease in twins. (3986053)
1985
45
Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency. (6097111)
1984
46
CT findings in acid lipase deficiency: wolman disease and cholesteryl ester storage disease. (6886132)
1983
47
Prenatal diagnosis of Wolman disease. (122435)
1978
48
Wolman disease in a Pakistani infant. (1274905)
1976
49
Wolman disease with jaundice and subarachnoid hemorrhage. (4745160)
1973

Variations for Wolman Disease

About this section

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

62
id Symbol AA change Variation ID SNP ID
1LIPAp.His129ProVAR_004248
2LIPAp.His129ArgVAR_004249
3LIPAp.Leu200ProVAR_004250

Clinvar genetic disease variations for Wolman Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1LIPANM_000235.3(LIPA): c.599T> C (p.Leu200Pro)single nucleotide variantPathogenicrs121965086GRCh37Chr 10, 90984925: 90984925
2LIPANM_000235.3(LIPA): c.796G> T (p.Gly266Ter)single nucleotide variantPathogenicrs267607218GRCh37Chr 10, 90983467: 90983467
3LIPALIPA, 934G-Asingle nucleotide variantPathogenic
4LIPALIPA, 1-BP INS, 634TinsertionPathogenic

Expression for genes affiliated with Wolman Disease

About this section
Search GEO for disease gene expression data for Wolman Disease.

Pathways for genes affiliated with Wolman Disease

About this section

Compounds for genes affiliated with Wolman Disease

About this section
Sources:
43Novoseek, 24HMDB
See all sources

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

(show top 50)    (show all 160)
idCompoundScoreTop Affiliating Genes
1cholesteryl oleate4310.0LIPA, LIPF
2TG(18:0/18:1(9Z)/20:0)[iso6]249.9LIPA, LIPF
3TG(18:0/18:1(9Z)/20:1(11Z))[iso6]249.9LIPA, LIPF
4TG(18:0/18:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.9LIPA, LIPF
5TG(18:0/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3]249.9LIPA, LIPF
6TG(18:1(9Z)/18:1(9Z)/18:2(9Z,12Z))[iso3]249.9LIPA, LIPF
7TG(18:0/18:1(9Z)/18:2(9Z,12Z))[iso6]249.9LIPF, LIPA
8TG(18:0/18:1(9Z)/18:1(9Z))[iso3]249.9LIPF, LIPA
9TG(16:1(9Z)/18:2(9Z,12Z)/20:1(11Z))[iso6]249.9LIPF, LIPA
10TG(16:1(9Z)/18:2(9Z,12Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.9LIPA, LIPF
11TG(16:1(9Z)/20:0/20:0)[iso3]249.9LIPA, LIPF
12TG(16:1(9Z)/20:0/20:1(11Z))[iso6]249.9LIPA, LIPF
13TG(18:0/18:0/20:4(5Z,8Z,11Z,14Z))[iso3]249.9LIPA, LIPF
14TG(18:1(9Z)/18:1(9Z)/20:0)[iso3]249.9LIPA, LIPF
15TG(18:1(9Z)/18:1(9Z)/20:1(11Z))[iso3]249.9LIPA, LIPF
16TG(18:2(9Z,12Z)/20:0/20:0)[iso3]249.9LIPF, LIPA
17TG(18:2(9Z,12Z)/20:0/20:1(11Z))[iso6]249.9LIPA, LIPF
18TG(18:2(9Z,12Z)/20:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.9LIPA, LIPF
19TG(18:2(9Z,12Z)/20:1(11Z)/20:1(11Z))[iso3]249.9LIPA, LIPF
20TG(20:1(11Z)/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.9LIPA, LIPF
21TG(20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))249.9LIPA, LIPF
22TG(18:2(9Z,12Z)/18:2(9Z,12Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.9LIPF, LIPA
23TG(18:1(9Z)/18:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.9LIPA, LIPF
24TG(18:1(9Z)/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3]249.9LIPA, LIPF
25TG(18:1(9Z)/18:2(9Z,12Z)/20:0)[iso6]249.9LIPA, LIPF
26TG(18:2(9Z,12Z)/18:2(9Z,12Z)/20:1(11Z))[iso3]249.9LIPA, LIPF
27TG(16:0/16:0/18:2(9Z,12Z))[iso3]249.9LIPA, LIPF
28TG(16:0/16:1(9Z)/18:1(9Z))[iso6]249.9LIPF, LIPA
29TG(16:0/18:0/20:4(5Z,8Z,11Z,14Z))[iso6]249.8LIPA, LIPF
30TG(16:0/18:1(9Z)/18:1(9Z))[iso3]249.8LIPA, LIPF
31TG(16:0/18:1(9Z)/18:2(9Z,12Z))[iso6]249.8LIPA, LIPF
32TG(16:0/18:1(9Z)/20:0)[iso6]249.8LIPA, LIPF
33TG(16:0/18:1(9Z)/20:1(11Z))[iso6]249.8LIPA, LIPF
34TG(16:0/16:1(9Z)/18:0)[iso6]249.8LIPF, LIPA
35TG(16:0/16:0/20:0)[iso3]249.8LIPA, LIPF
36TG(16:0/16:0/20:1(11Z))[iso3]249.8LIPA, LIPF
37TG(16:0/16:0/20:4(5Z,8Z,11Z,14Z))[iso3]249.8LIPA, LIPF
38TG(16:0/16:1(9Z)/16:1(9Z))[iso3]249.8LIPA, LIPF
39TG(16:0/18:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.8LIPA, LIPF
40TG(16:1(9Z)/16:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.7LIPA, LIPF
41TG(16:1(9Z)/18:0/18:0)[iso3]249.7LIPA, LIPF
42TG(16:1(9Z)/18:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.7LIPA, LIPF
43TG(16:1(9Z)/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3]249.7LIPA, LIPF
44TG(16:1(9Z)/18:2(9Z,12Z)/20:0)[iso6]249.6LIPA, LIPF
45TG(16:1(9Z)/16:1(9Z)/20:1(11Z))[iso3]249.6LIPF, LIPA
46TG(16:0/18:2(9Z,12Z)/18:2(9Z,12Z))[iso3]249.6LIPA, LIPF
47TG(16:1(9Z)/16:1(9Z)/18:0)[iso3]249.5LIPA, LIPF
48TG(16:1(9Z)/16:1(9Z)/20:0)[iso3]249.5LIPA, LIPF
49TG(16:1(9Z)/16:1(9Z)/18:1(9Z))[iso3]249.4LIPA, LIPF
50TG(16:1(9Z)/16:1(9Z)/18:2(9Z,12Z))[iso3]249.2LIPA, LIPF

GO Terms for genes affiliated with Wolman Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lipid catabolic processGO:00160429.5LIPA, LIPF

Products for genes affiliated with Wolman Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Wolman Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet