Niemann-Pick disease type B

Summary
Definition
A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.
Super Class
Niemann-Pick disease
External Links
Disease Ontology
DOID:0070112
Mondo Disease Ontology
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1118 CHIT1 chitinase 1
2629 GBA1 glucosylceramidase beta 1
3383 ICAM1 intercellular adhesion molecule 1
6609 SMPD1 sphingomyelin phosphodiesterase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
20597 Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal
Displaying all 3 entries
Gene ID Gene Symbol Description Source
174131 asm-1 Sphingomyelin phosphodiesterase 1
176879 asm-3 Putative sphingomyelin phosphodiesterase asm-3;Sphingomyelin phosphodiesterase
181323 asm-2 Sphingomyelin phosphodiesterase 2
The Human Phenotype Ontology
Displaying entries 51 - 60 of 61 in total
HPO ID HPO Term
HP:0003621 Juvenile onset
HP:0002205 Recurrent respiratory infections
HP:0011462 Young adult onset
HP:0001903 Anemia
HP:0000007 Autosomal recessive inheritance
HP:0003609 Foam cells with lamellar inclusion bodies
HP:0002829 Arthralgia
HP:0011463 Childhood onset
HP:0001982 Sea-blue histiocytosis
HP:0001268 Mental deterioration
Displaying 1 entry
Gene ID Gene Symbol Description
6609 SMPD1 sphingomyelin phosphodiesterase 1

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Acknowledgements

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Last updated: August 19, 2024