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 31 - 40 of 61 in total
HPO ID HPO Term
HP:0002896 Neoplasm of the liver
HP:0003077 Hyperlipidemia
HP:0003119 Abnormal circulating lipid concentration
HP:0003141 Increased LDL cholesterol concentration
HP:0003233 Decreased HDL cholesterol concentration
HP:0004322 Short stature
HP:0004836 Acute promyelocytic leukemia
HP:0004887 Respiratory failure requiring assisted ventilation
HP:0006515 Interstitial pneumonitis
HP:0006520 Progressive pulmonary function impairment
Displaying 1 entry
Gene ID Gene Symbol Description
6609 SMPD1 sphingomyelin phosphodiesterase 1

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Last updated: August 19, 2024