Niemann-Pick disease type A

Summary
Definition
A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues 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:0070111
Mondo Disease Ontology
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1118 CHIT1 chitinase 1
2629 GBA1 glucosylceramidase beta 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
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 11 - 20 of 36 in total
HPO ID HPO Term
HP:0002205 Recurrent respiratory infections
HP:0001249 Intellectual disability
HP:0003593 Infantile onset
HP:0001541 Ascites
HP:0006579 Prolonged neonatal jaundice
HP:0002013 Vomiting
HP:0001265 Hyporeflexia
HP:0002376 Developmental regression
HP:0000007 Autosomal recessive inheritance
HP:0002188 Delayed CNS myelination
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