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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMorbus Niemann-Pick type A/B


Short information

Guideline-curated single gene sequence analysis according to the clinical suspicion Morbus Niemann-Pick

Number of genes
1 Accredited laboratory test
Examined sequence length
1,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Niemann-Pick disease type A (severe early onset) and type B (later onset, milder manifestations than type A) are caused by mutations in the SMPD1 gene. SMPD1 mutations lead to acid sphingomyelinase deficiency, which results in decreased degradation of sphingomyelin. The resulting fatty deposits disrupt cellular processes, and the subsequent cell loss impairs the functions of the liver, spleen, brain, lungs and eyes in particular. In type A, hepatosplenomegaly is evident after three months, and respiratory failure may be an early cause of death. In addition, the neurological situation of patients deteriorates inexorably, and most children die before the age of three. In contrast, patients with type B can reach adulthood. The mode of inheritance is autosomal recessive. DNA sequence analysis allows detection of pathogenic SMPD1 variants in >95% of subjects. Neither duplications nor deletions of the SMPD1 gene have been described. Inconspicuous genetic findings do not provide absolutely certain exclusion of the suspected clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1370/


  • ASMD
  • Acid sphingomyelinase deficiency
  • Alias: Niemann-Pick disease, type A/B (SMPD1)
  • Niemann-Pick disease, intermediate, protracted neurovisceral, type A (SMPD1)
  • Niemann-Pick disease, intermediate, visceral involvement + rapid progression, type B/E/F (SMPD1)
  • Sphingomyelin lipidosis; Niemann-Pick disease, type A (SMPD1)
  • Sphingomyelinase deficiency; Niemann-Pick disease, type A (SMPD1)
Heredity, heredity patterns etc.
  • AR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined