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 41 - 50 of 61 in total
HPO ID HPO Term
HP:0006530 Abnormal pulmonary interstitial morphology
HP:0007018 Attention deficit hyperactivity disorder
HP:0007302 Bipolar affective disorder
HP:0009830 Peripheral neuropathy
HP:0010729 Cherry red spot of the macula
HP:0012415 Abnormal blood gas level
HP:0002094 Dyspnea
HP:0003596 Middle age onset
HP:0004333 Bone-marrow foam cells
HP:0001103 Abnormal macular morphology
Displaying 1 entry
Gene ID Gene Symbol Description
6609 SMPD1 sphingomyelin phosphodiesterase 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024