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 21 - 30 of 61 in total
HPO ID HPO Term
HP:0001971 Hypersplenism
HP:0001973 Autoimmune thrombocytopenia
HP:0002121 Generalized non-motor (absence) seizure
HP:0002155 Hypertriglyceridemia
HP:0002186 Apraxia
HP:0002194 Delayed gross motor development
HP:0002240 Hepatomegaly
HP:0002725 Systemic lupus erythematosus
HP:0002750 Delayed skeletal maturation
HP:0002756 Pathologic fracture
Displaying 1 entry
Gene ID Gene Symbol Description
6609 SMPD1 sphingomyelin phosphodiesterase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024