Lysosomal acid lipase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: CHOLESTEROL ESTER HYDROLASE DEFICIENCY WOLMAN DISEASE, INCLUDED
CHOLESTERYL ESTER STORAGE DISEASE
LIPA DEFICIENCY
CESD
lal deficiency
Number of Symptoms 21
OrphanetNr: 275761
OMIM Id: 278000
ICD-10: E75.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lipid storage disease
 -Rare genetic disease
Rare syndromic dyslipidemia
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010512) Adrenal calcification 2 / 7739
2
 (HPO:0002014) Diarrhea 225 / 7739
3
 (HPO:0002024) Malabsorption 142 / 7739
4
 (HPO:0002040) Esophageal varix 23 / 7739
5
 (HPO:0001395) Hepatic fibrosis 67 / 7739
6
 (HPO:0002013) Vomiting 191 / 7739
7
 (HPO:0002570) Steatorrhea 31 / 7739
8
 (HPO:0001433) Hepatosplenomegaly 78 / 7739
9
 (HPO:0001538) Protuberant abdomen 36 / 7739
10
 (HPO:0001508) Failure to thrive 454 / 7739
11
 (HPO:0002092) Pulmonary hypertension 109 / 7739
12
 (HPO:0004333) Bone-marrow foam cells 11 / 7739
13
 (HPO:0001922) Vacuolated lymphocytes 13 / 7739
14
 (HPO:0003124) Hypercholesterolemia 53 / 7739
15
 (HPO:0001522) Death in infancy 275 / 7739
16
 (OMIM) Disseminated organ foam cell infiltration 3 / 7739
17
 (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
18
 (OMIM) Normal or moderately elevated plasma lipids 3 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (OMIM) Acid cholesteryl ester hydrolase deficiency 3 / 7739
21
 (OMIM) Diffuse punctate adrenal calcification 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 ...