Wolman disease
- Synonyms
- Acid cholesteryl ester hydrolase deficiency, Wolman type; Acid lipase disease; CHOLESTEROL ESTER HYDROLASE DEFICIENCY, COMPLETE; LAL DEFICIENCY, COMPLETE; LIPA DEFICIENCY, COMPLETE; LYSOSOMAL ACID LIPASE DEFICIENCY, ACUTE INFANTILE; LYSOSOMAL ACID LIPASE DEFICIENCY, COMPLETE; Wolman disease with hypolipoproteinemia and acanthocytosis; Wolman disease, CESD
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Erin P Hoffman
- Marci L Barr
- Monica A Giovanni
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (30 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Fever
Fever
- MedGen UID: 5169
- Concept ID: C0015967
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Reduced lysosomal acid lipase activity
Reduced lysosomal acid lipase activity
- MedGen UID: 1620002
- Concept ID: C4531280
- Finding: Finding
Abnormality of metabolism/homeostasis
- Fever
- Abnormality of the digestive system
- Abdominal distention
Abdominal distention
- MedGen UID: 34
- Concept ID: C0000731
- Finding: Finding
Abnormality of the digestive system
- Acute liver failure
Acute liver failure
- MedGen UID: 58125
- Concept ID: C0162557
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Abdominal distention
- Abnormality of the endocrine system
- Adrenal calcification
Adrenal calcification
- MedGen UID: 78785
- Concept ID: C0271750
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Adrenal calcification
- Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
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