Cholesteryl ester storage disease

General Information (adopted from Orphanet):

Synonyms, Signs: CHOLESTEROL ESTER HYDROLASE DEFICIENCY WOLMAN DISEASE, INCLUDED
CHOLESTERYL ESTER STORAGE DISEASE
LIPA DEFICIENCY
LAL DEFICIENCY
CESD
Cholesterol ester storage disease
Number of Symptoms 30
OrphanetNr: 75234
OMIM Id: 278000
ICD-10: E75.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal acid lipase deficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004372) Reduced consciousness/confusion Occasional [Orphanet] 73 / 7739
2
 (HPO:0000834) Abnormality of the adrenal glands Occasional [Orphanet] 14 / 7739
3
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
4
 (HPO:0002014) Diarrhea 225 / 7739
5
 (HPO:0002612) Congenital hepatic fibrosis Frequent [Orphanet] 16 / 7739
6
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
7
 (HPO:0001395) Hepatic fibrosis 67 / 7739
8
 (HPO:0001433) Hepatosplenomegaly 78 / 7739
9
 (HPO:0002013) Vomiting 191 / 7739
10
 (HPO:0002570) Steatorrhea 31 / 7739
11
 (HPO:0001399) Hepatic failure Frequent [Orphanet] 80 / 7739
12
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
13
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
14
 (HPO:0001538) Protuberant abdomen 36 / 7739
15
 (HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
16
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
17
 (HPO:0002040) Esophageal varix Occasional [Orphanet] 23 / 7739
18
 (HPO:0001508) Failure to thrive 454 / 7739
19
 (HPO:0000989) Pruritus Occasional [Orphanet] 111 / 7739
20
 (HPO:0002092) Pulmonary hypertension 109 / 7739
21
 (HPO:0002621) Atherosclerosis Frequent [Orphanet] 33 / 7739
22
 (HPO:0001922) Vacuolated lymphocytes 13 / 7739
23
 (HPO:0004333) Bone-marrow foam cells 11 / 7739
24
 (HPO:0003124) Hypercholesterolemia 53 / 7739
25
 (HPO:0001012) Multiple lipomas Frequent [Orphanet] 43 / 7739
26
 (OMIM) Acid cholesteryl ester hydrolase deficiency 3 / 7739
27
 (OMIM) Disseminated organ foam cell infiltration 3 / 7739
28
 (OMIM) Diffuse punctate adrenal calcification 3 / 7739
29
 (OMIM) Normal or moderately elevated plasma lipids 3 / 7739
30
 (OMIM) Xanthomatous changes in liver, adrenal, spleen, lymph nodes, bone marrow, small intestine, lungs and thymus, and slight changes in skin, retina, and central nervous system 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs ...
Diagnosis OMIM Desai et al. (1987) made the prenatal diagnosis of CESD by demonstration of deficient lysosomal acid lipase activity in cultured amniocytes from an at-risk fetus. The findings in the affected fetus at 17 weeks were described. Massive lysosomal ...
Clinical Description OMIM - Wolman Disease

Wolman et al. (1961) described 3 sibs in whom involvement of the viscera was an important feature and death occurred at the age of about 3 months. Xanthomatous changes were observed in the ...
Molecular genetics OMIM In a 12-year-old patient with cholesteryl ester storage disease from a nonconsanguineous Polish-German family, Klima et al. (1993) detected compound heterozygosity for mutations in the LIPA gene, a splice site mutation resulting in exon skipping (613497.0002) and a ...