Details of Disease | DrugMAP

General Information of Disease (ID: DISRCINF)

Disease Name	Niemann-Pick disease type A
Synonyms	sphingomyelin lipidosis; Niemann-PICK disease, type A; sphingomyelinase deficiency; Niemann-Pick disease, Intermediate, protracted neurovisceral
Definition	Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.
Disease Hierarchy	DISB52BH: Eye disorder DISCPWH9: Autosomal recessive disease DISD9N88: Acid sphingomyelinase deficiency DISRCINF: Niemann-Pick disease type A
Disease Identifiers	MONDO ID MONDO_0009756 MESH ID D052536 UMLS CUI C0268242 OMIM ID 257200 MedGen ID 78650 Orphanet ID 77292 SNOMED CT ID 52165006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMPD1	TTJTM88	Strong	Genetic Variation	[1]
SMPD1	TTJTM88	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP2B2	OT1NPZ9T	moderate	Biomarker	[3]
ATP2B3	OT9DIEOP	moderate	Biomarker	[3]
NPB	OT0U82T3	Strong	Biomarker	[4]
SMPD1	OTZSMA54	Definitive	Autosomal recessive	[2]
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References

1	Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.Ann Hepatol. 2019 Jul-Aug;18(4):613-619. doi: 10.1016/j.aohep.2018.12.004. Epub 2019 May 12.
2	The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet. 2002 Dec;71(6):1413-9. doi: 10.1086/345074. Epub 2002 Oct 4.
3	Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann-Pick disease.Mol Psychiatry. 2017 May;22(5):711-723. doi: 10.1038/mp.2016.148. Epub 2016 Sep 13.
4	Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.Neurol Sci. 2005 Jul;26(3):171-3. doi: 10.1007/s10072-005-0456-z.