Niemann-pick Disease malady

NIH Rare Diseases: Niemann-Pick disease type B is an inherited condition involving lipid metabolism. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain. Signs and symptoms may include enlarged liver and spleen, growth retardation, and problems with lung function including frequent lung infections. Other signs include blood abnormalities such as elevated levels of cholesterol and other lipids (fats), and decreased numbers of blood cells involved in clotting (platelets). It is caused by changes (mutations) in the SMPD1 gene. It is inherited in an autosomal recessive fashion.³⁰

MalaCards: Niemann-pick Disease, also known as niemann-pick disease, type a, is related to niemann-pick disease type c1 and niemann–pick disease. An important gene associated with Niemann-pick Disease is NPC2 (Niemann-Pick disease, type C2), and among its related pathways are Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) and Cholesterol and Sphingolipids transport / Generic schema (normal and CF). The compounds glucose and thioflavin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spleen and brain, and related mouse phenotypes are renal/urinary system and respiratory system.

Genetics Home Reference: Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.¹⁷

OMIM: 257200

Aliases & Descriptions:

niemann-pick disease 6 7 niemann-pick disease, type a 33 43 niemann-pick disease, type b 33 43 niemann-pick disease type b 6 30 niemann pick disease type b 30 16 niemann-pick disease type c 6 15 type a niemann-pick disease 6 16 niemann-pick disease with cholesterol esterification block 6 sphingomyelin/cholesterol lipidosis (disorder) 6 niemann-pick disease, subacute juvenile form 6 lipoid histiocytosis (classical phosphatide) 6

niemann-pick disease, type c (disorder) 6 sphingomyelinase deficiency disease 6 juvenile niemann-pick disease 15 niemann-pick disease, type c 43 niemann-picks disease type b 32 niemann-pick disease type a 6 sphingomyelin lipidosis 6 niemann-pick diseases 43 lipoid histiocytosis 43 npd type a 16 npd type b 16

Disease types for niemann-pick disease family:

niemann-pick disease type c1	niemann-pick disease type c2
niemann-pick disease type d

Diseases related to niemann-pick disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 153)

id	Related Disease	Score	Top Affiliating Genes
1	niemann-pick disease type c1	36.9	NPC1, NPC1L1
2	niemann–pick disease	36.0	CHIT1, LCAT, ASAH2, M6PR, SMPD1, PSAP
3	acid sphingomyelinase deficiency	31.9	CNP, UGT8, MPZ, MBP, MAG, CCL3
4	sea-blue histiocytosis	31.3	LCAT, SMPD1
5	sphingolipidosis	31.3	ASAH2, PSAP
6	chitotriosidase deficiency	30.8	CHIT1, GBA
7	progressive supranuclear palsy	30.4	MAPT, SNCA, HCRT, NPC1, GBA
8	supranuclear palsy	30.2	APP, MAPT, SNCA, HCRT, NPC1, GBA
9	tremor	29.7	MPZ, SNCA, PLP1, NPC1, GBA
10	lysosomal storage disease	29.6	NAGA, CHIT1, M6PR, SMPD1, HEXA, PSAP
11	gaucher's disease	29.1	CHIT1, UGCG, ASAH2, CCL18, SNCA, SMPD1
12	pick's disease	28.9	CNP, NAGA, CHIT1, UGCG, UGT8, LCAT
13	cholesterol	25.6	CNP, RAB9A, UGCG, LCAT, CES1, MPZ
14	neuronitis	21.6	CNP, UGCG, UGT8, MPZ, APOD, APP
15	logopenic progressive aphasia	13.6	MAPT, SNCA
16	frontotemporal dementia, ubiquitin-positive	13.6	MAPT, SNCA
17	normal pressure hydrocephalus	13.5	MAPT, HCRT
18	neuroaxonal dystrophy, infantile	13.5	NAGA, APP
19	sialidosis	13.5	NAGA, CHIT1, PSAP
20	gaucher disease type 1	13.5	CHIT1, GBA
21	gaucher disease type 2	13.5	PSAP, GBA
22	gaucher disease type 3	13.5	PSAP, GBA
23	familial idiopathic basal ganglia calcification	13.5	APP, MAPT
24	early-onset familial alzheimer disease	13.5	APP, MAPT, SNCA
25	corticobasal degeneration	13.5	MAPT, SNCA, HCRT
26	lewy body dementia	13.4	APP, MAPT, SNCA
27	cognitive disease	13.4	APP, MAPT, SNCA
28	beta-mannosidosis	13.4	CNP, NAGA
29	creutzfeldt-jakob syndrome	13.4	APP, MAPT, SNCA
30	tangier disease	13.4	LCAT, ABCA1, NPC1
31	primary progressive aphasia	13.4	APP, MAPT
32	lateral sclerosis	13.4	MAPT, SNCA
33	neuroaxonal dystrophy	13.4	NAGA, SNCA
34	alzheimer disease type 1	13.4	APP, MAPT
35	amyloid tumor	13.4	APP, MAPT, ABCA1
36	ceroid lipofuscinosis	13.4	APP, M6PR, PSAP
37	memory impairment	13.3	APP, MAPT, SNCA
38	aphasia	13.3	APP, MAPT, SNCA
39	hypoalphalipoproteinemia	13.3	LCAT, ABCA1, GBA
40	hepatic lipase deficiency	13.3	LCAT, CES1
41	tauopathy	13.3	APP, MAPT, SNCA, NPC1
42	gaze palsy	13.3	MAPT, SNCA, GBA
43	autonomic dysfunction	13.3	MAPT, SNCA, HCRT
44	mucolipidosis	13.3	LCAT, SMPD1, HEXA, NPC1
45	sandhoff disease	13.2	UGCG, HEXA, NPC1
46	tay-sachs disease	13.2	HEXA, PSAP
47	differentiating neuroblastoma	13.2	APP, MAPT, SNCA, HCRT
48	neuronal ceroid-lipofuscinosis	13.2	APP, M6PR, PSAP
49	huntington's disease	13.2	APP, MAPT, SNCA, HCRT
50	metachromatic leukodystrophy	13.2	UGT8, HEXA, PSAP

Clinical features from OMIM: 257200

Approved drugs:

Drug clinical trials:

Cell-based therapeutics:

MalaCards organs/tissues related to niemann-pick disease:

²²

MGI Mouse Phenotypes related to niemann-pick disease:

²⁵ (show all 12)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	7.9	PSAP, TLR4, HEXA, ABCA1, SNCA, M6PR
2	respiratory system phenotype	MP:0005388	7.9	GBA, NPC1, PSAP, TLR4, HCRT, ABCA1
3	vision/eye phenotype	MP:0005391	7.8	PSAP, TLR4, HEXA, PLP1, MAPT, MBP
4	liver/biliary system phenotype	MP:0005370	7.8	GBA, NPC2, NPC1L1, NPC1, PSAP, TLR4
5	reproductive system phenotype	MP:0005389	6.7	PLP1, ABCA1, HEXA, TLR4, PSAP, NPC1
6	growth/size phenotype	MP:0005378	6.4	HCRT, HEXA, TLR4, PSAP, NPB, NPC2
7	immune system phenotype	MP:0005387	6.0	PLP1, ABCA1, TLR4, PSAP, NPC1, NPC2
8	nervous system phenotype	MP:0003631	5.9	PLP1, HCRT, TLR4, NPC1, NPC2, GBA
9	cellular phenotype	MP:0005384	5.6	SMPD1, PLP1, ABCA1, TLR4, NPC1, NPC2
10	mortality/aging	MP:0010768	4.6	SMPD1, PLP1, ABCA1, HEXA, TLR4, PSAP
11	behavior/neurological phenotype	MP:0005386	4.2	CNP, SMPD1, PLP1, HCRT, HEXA, TLR4
12	homeostasis/metabolism phenotype	MP:0005376	4.0	HCRT, ABCA1, PLP1, SMPD2, HEXA, TLR4

Articles related to niemann-pick disease:

(show top 50)    (show all 91)

id	Title	Authors	Year	Affiliating Genes
1	Niemann-Pick Disease Type C: from molecule to clinic. (19566836)	Tang Y.... Liu J.P.	2010	NPC1, NPC2
2	Acid sphingomyelinase, cell membranes and human disea se: lessons from Niemann-Pick disease. (19944693)	Schuchman E.H.	2010	SMPD1
3	Acid sphingomyelinase deficiency does not protect fro m graft-versus-host disease in transplant recipients with Niemann-Pick disease. (20075175)	Tolar J.... Blazar B.R.	2010	SMPD1
4	Identification and characterization of eight novel SM PD1 mutations causing types A and B Niemann-Pick disease. (20386867)	Desnick J.P.... Schuchman E.H.	2010	SMPD1
5	A Case of a Korean Adult Affected by Type B Niemann-Pick Disease: Secondary Sea-blue Histiocytosis and Molecular Characterization. (19411774)	Cho Y.U.... Yoo H.W.	2009	SMPD1
6	The pathogenesis and treatment of acid sphingomyelina se-deficient Niemann-Pick disease. (20040312)	Schuchman E.H.	2009	SMPD1
7	Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A. (19187445)	BuccinnA B.... Rinaudo M.T.	2009	MBP, SMPD1, MAG
8	A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease. (19050888)	Lan M.Y.... Liu Y.F.	2009	SMPD1
9	Stem cells in Niemann-Pick disease. (18525117)	Kim S.J.... Kang K.S.	2008	NPC1
10	The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (17632693)	Schuchman E.H.	2007	SMPD1
11	Treatment of Niemann-Pick disease type C in two child ren with miglustat: initial responses and maintenance of effects over 1 year. (17603755)	Chien Y.H.... Hwu W.L.	2007	UGCG
12	The adult form of Niemann-Pick disease type C. (17003072)	Sevin M.... Sedel F.	2007	NPC1, NPC2
13	Unsuccessful treatment attempt: cord blood stem cell transplantation in a patient with Niemann-Pick disease type A. (17960492)	Morel C.F.... Clarke J.T.	2007	SMPD1
14	Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. (17360762)	Mihaylova V.... Kalaydjieva L.	2007	SMPD1
15	Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid. (16778374)	Oyama K.... Kanbayashi T.	2006	NPC1, HCRT
16	Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. (16972172)	Ries M.... Mengel E.	2006	CHIT1
17	Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)	Wasserstein M.P.... McGovern M.M.	2006	SMPD1
18	Clinical findings in Niemann-Pick disease type B. (16472269)	Mussig K.... Machicao F.	2006	SMPD1
19	Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation. (17044092)	Godeiro-JA_nior C.... Barsottini O.	2006	NPC1
20	AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. (16099409)	Barbon C.M.... Cheng S.H.	2005	SMPD1
21	Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. (15774455)	Yang C.-C.... Lee M.-J.	2005	NPC1
22	Comparative effects of recombinant acid sphingomyelinase administration by different routes in niemann-pick disease mice. (15516789)	Bae J.S.... Jin H.K.	2004	SMPD1
23	Lipid abnormalities in children with types A and B Niemann Pick disease. (15238911)	McGovern M.M.... Wasserstein M.P.	2004	SMPD1
24	Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. (14557264)	Dhami R.... Schuchman E.H.	2004	IGF2R, M6PR
25	The niemann-pick disease genes; regulators of cellular cholesterol homeostasis. (15030792)	Ory D.S.	2004	NPC1, NPC2
26	Preimplantation genetic diagnosis for Niemann-Pick disease type B. (15612058)	Hellani A.... Coskun S.	2004	SMPD1
27	Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C. (14757764)	Salvioli R.... Vaccaro A.M.	2004	GBA
28	Heterozygous Niemann-Pick disease type C presenting with tremor. (15596783)	Josephs K.A.... Lindor N.M.	2004	NPC1
29	The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B. (12694237)	FernA!ndez-Burriel M.... ChabA!s A.	2003	SMPD1
30	Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C. (12841368)	Vankova J.... Nevsimalova S.	2003	HCRT
31	The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. (12369017)	Simonaro C.M.... Schuchman E.H.	2002	SMPD1
32	Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. (11202175)	Zervas M.... Walkley S.U.	2001	NPC1
33	Critical role for glycosphingolipids in Niemann-Pick disease type C. (11525744)	Zervas M.... Walkley S.U.	2001	NPC1, UGCG, NPC2
34	Niemann-Pick Disease versus acid sphingomyelinase def iciency. (11313707)	Lozano J.... Kolesnick R.	2001	SMPD1
35	Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease. (11454988)	Dhami R.... Schuchman E.H.	2001	SMPD1, CCL3
36	Permeability barrier disorder in Niemann-Pick disease: sphingomyelin-ceramide processing required for normal barrier homeostasis. (10951284)	Schmuth M.... Holleran W.M.	2000	SMPD1
37	Linkage disequilibrium mapping of the Nova Scotia var iant of Niemann-Pick disease. (10361985)	Greer W.L.... Neumann P.E.	1999	NPC1
38	The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. (9634529)	Greer W.L.... Neumann P.E.	1998	NPC1
39	Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C. (9245994)	Greer W.L.... Neumann P.E.	1997	NPC1
40	Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B. (8664904)	Ida H.... Eto Y.	1996	SMPD1
41	Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)	Otterbach B.... Stoffel W.	1995	SMPD1
42	Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. (7670466)	Horinouchi K.... Schuchman E.H.	1995	SMPD1
43	Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. (7762557)	Ferlinz K.... Vanier M.T.	1995	SMPD1
44	Two new mutations in the acid sphingomyelinase gene causing type A Niemann-pick disease: N389T and R441X. (8680412)	Schuchman E.H.	1995	SMPD1
45	Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction. (7578419)	Yeyati P.L.... Schuchman E.H.	1995	SMPD1
46	Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. (1618760)	Takahashi T.... Schuchman E.H.	1992	SMPD1
47	Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells. (1565614)	Suchi M.... Schuchman E.H.	1992	SMPD1
48	Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. (2023926)	Levran O.... Schuchman E.H.	1991	SMPD1
49	Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. (2065103)	Argoff C.E.... Pentchev P.G.	1991	CES1
50	Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. (1718266)	Ferlinz K.... Sandhoff K.	1991	SMPD1

Genes related to niemann-pick disease according to GeneCards:

(show all 34)

id	Symbol	Description	Score	GeneCards Section Context
1	NPC2	Niemann-Pick disease, type C2	11.2	Publications, Transcripts, Summaries, Orthologs (show all 5 sections) Aliases & Descriptions
2	SMPD1	sphingomyelin phosphodiesterase 1, acid lysosomal	11.1	Orthologs, Summaries, Publications
3	NPC1	Niemann-Pick disease, type C1	11.1	Publications, Aliases & Descriptions, Orthologs, Transcripts
4	NPC1L1	NPC1 (Niemann-Pick disease, type C1, gene)-like 1	11.1	Transcripts, Publications, Aliases & Descriptions, Orthologs
5	ASAH2	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	11.1
6	PSAP	prosaposin	11.1	Publications
7	CHIT1	chitinase 1 (chitotriosidase)	11.0	Publications
8	M6PR	mannose-6-phosphate receptor (cation dependent)	11.0	Publications
9	HCRT	hypocretin (orexin) neuropeptide precursor	11.0	Publications
10	APOD	apolipoprotein D	11.0	Publications
11	LCAT	lecithin-cholesterol acyltransferase	11.0
12	ABCA1	ATP-binding cassette, sub-family A (ABC1), member 1	11.0
13	SNCA	synuclein, alpha (non A4 component of amyloid precursor)	11.0
14	MAPT	microtubule-associated protein tau	11.0
15	APP	amyloid beta (A4) precursor protein	11.0
16	NPB	neuropeptide B	11.0
17	CNP	2',3'-cyclic nucleotide 3' phosphodiesterase	11.0	Publications
18	CCL18	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	11.0	Publications
19	RAB9A	RAB9A, member RAS oncogene family	11.0
20	SMPD2	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	11.0
21	NAGA	N-acetylgalactosaminidase, alpha-	11.0	Publications
22	MAG	myelin associated glycoprotein	11.0	Publications
23	UGT8	UDP glycosyltransferase 8	11.0	Publications
24	UGCG	UDP-glucose ceramide glucosyltransferase	11.0	Publications
25	PLP1	proteolipid protein 1	11.0	Publications
26	GBA	glucosidase, beta, acid	11.0	Publications
27	MPZ	myelin protein zero	11.0	Publications
28	CES1	carboxylesterase 1	11.0	Publications
29	HEXA	hexosaminidase A (alpha polypeptide)	11.0
30	IGF2R	insulin-like growth factor 2 receptor	11.0	Publications
31	MBP	myelin basic protein	11.0	Publications
32	TLR4	toll-like receptor 4	11.0	Publications
33	CCL3	chemokine (C-C motif) ligand 3	11.0	Publications
34	NPCA1	Nasopharyngeal carcinoma 1	10.6

Pathways related to niemann-pick disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)41	10.0	RAB9A, NPC1, NPC2
2	Cholesterol and Sphingolipids transport / Generic schema (normal and CF)41	9.9	NPC1, NPC2
3	Neuroscience3	9.5	CNP, APP, MAPT, MAG, SNCA
4	Sphingolipid metabolism20	9.2	GBA, SMPD2, SMPD1, ASAH2, UGT8, UGCG
5	LDL Oxidation in Atherogenesis36	9.2	SMPD2, SMPD1, CCL3
6	Metabolism of lipids and lipoproteins38	9.0	GBA, NPC1L1, PSAP, SMPD2, SMPD1, ASAH2
7	Lysosome20	8.6	NAGA, GBA, NPC2, NPC1, PSAP, HEXA

Compounds related to niemann-pick disease according to GeneDecks:

(show top 50)    (show all 91)

id	Compound	Score	Top Affiliating Genes
1	glucose32	10.7	NAGA
2	thioflavin32	10.3	MAPT, APP, SNCA
3	thioflavine s32	10.3	APP, MAPT, SNCA
4	methionine sulfoxide32 9 18 9	13.0	SNCA, ABCA1, APP
5	miglustat32 9 9	12.0	CHIT1, UGCG, GBA
6	phosphatidylserine32 9 9	11.9	SNCA, PLP1, PSAP, MAPT
7	tacrine32 9 9	11.9	CES1, MAPT, APP
8	u18666a32	9.7	APP, NPC1, IGF2R, CES1
9	glycosphingolipid32	9.7	GBA, ABCA1, PSAP, UGT8, UGCG
10	cerebrosides32	9.7	MPZ, UGCG, MBP
11	c2ceramide32	9.7	UGCG, SMPD2, TLR4
12	lactosylceramide32	9.6	SMPD2, UGCG, UGT8, GBA, PSAP
13	ceramides32	9.6	CES1, ASAH2, UGCG, GBA, SMPD1
14	sterol32	9.6	CES1, NPC1L1, NPC1, ABCA1, SMPD2, LCAT
15	cerebroside32	9.5	HEXA, MBP, UGT8
16	sodium dodecylsulfate32	9.4	SNCA, MAPT, MBP, APP, LCAT
17	glucosylceramide32 18	10.4	NPC2, CHIT1, UGCG, ASAH2, SMPD1, SMPD2
18	dihydroceramide32 18	10.4	ASAH2, SMPD1, SMPD2, NPC2, GBA, UGCG
19	choline32 9 18 9	12.4	APP, SNCA, ABCA1, PSAP, MBP, MAPT
20	methionine32	9.3	ABCA1, PLP1, SMPD1, SNCA, MAPT, LCAT
21	fatty acid32	9.3	PLP1, APOD, ASAH2, MPZ, CES1, LCAT
22	glatiramer acetate32 9 9	11.3	PLP1, MBP, MPZ
23	2,3-cyclic nucleotide32	9.3	MAG, MBP, PLP1, MPZ, CNP
24	phosphoserine32 18	10.2	MAG, MAPT, CNP, MBP
25	sphingosine32 9 18 9	12.2	SMPD2, SMPD1, ASAH2, CES1, UGCG, PSAP
26	sulfatide32	9.1	UGT8, PSAP, PLP1, MAG, MBP, MPZ
27	mannose 6-phosphate32 18	10.0	RAB9A, PSAP, GBA, HEXA, SMPD1, M6PR
28	phosphatidylcholine32	8.9	MBP, SNCA, SMPD1, PLP1, ABCA1, LCAT
29	mannose32	8.7	TLR4, SMPD1, IGF2R, CHIT1, HEXA, M6PR
30	simvastatin32 34 42 9 18 9	13.5	TLR4, LCAT, CES1, APP, CCL3, ABCA1
31	cocaine32 9 9	10.5	HCRT, PLP1, SNCA, CCL3, MBP, CES1
32	acetylcholine32 9 18 9	11.5	PLP1, SNCA, MAG, APP, MBP, HCRT
33	n acetylcysteine32	8.5	TLR4, SMPD2, PLP1, SNCA, MAPT, MBP
34	ganglioside32	8.4	NPC2, PSAP, HEXA, SMPD1, MAG, MBP
35	testosterone32 9 18 9	11.3	CES1, CCL3, APOD, SNCA, ABCA1, HCRT
36	ceramide32	8.3	ASAH2, UGCG, UGT8, CES1, SMPD1, SMPD2
37	arginine32	8.2	PSAP, MPZ, PLP1, APP, MBP, MAPT
38	polysaccharide32	7.9	MAG, CCL3, M6PR, TLR4, GBA, IGF2R
39	glycolipid32	7.8	GBA, NPC2, NPC1, PSAP, TLR4, HEXA
40	cyclosporin a32 42	8.8	UGCG, ABCA1, TLR4, APP, CCL3, MAPT
41	aspartate32	7.7	MAPT, TLR4, SMPD1, CCL3, MAG, APP
42	glutamate32	7.6	MBP, MAPT, CCL3, SNCA, PLP1, ABCA1
43	alanine32	7.5	LCAT, SNCA, APP, HCRT, TLR4, CCL18
44	phospholipid32	7.4	ABCA1, PLP1, SMPD1, SNCA, IGF2R, MBP
45	retinoic acid32 42 18	9.0	CCL3, APP, MBP, ABCA1, PLP1, IGF2R
46	tyrosine32	6.9	PSAP, SNCA, TLR4, HCRT, M6PR, IGF2R
47	cysteine32	6.0	APP, SMPD1, PLP1, TLR4, PSAP, NPC1
48	cholesterol32 9 18 9	8.2	PLP1, SMPD2, SMPD1, SNCA, M6PR, IGF2R
49	serine32	5.0	ABCA1, LCAT, CES1, MPZ, APP, MBP
50	lipid32	4.1	RAB9A, SNCA, M6PR, IGF2R, MAG, MBP

Cellular components related to niemann-pick disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	lysosome	GO:005764	9.7	NPC2, NPC1, CHIT1, RAB9A, NAGA
2	lysosomal lumen	GO:043202	9.6	GBA, PSAP, HEXA, SMPD1
3	compact myelin	GO:043218	9.6	PLP1, MBP
4	lysosomal membrane	GO:005765	9.4	IGF2R, M6PR, PSAP, NPC1, GBA
5	perinuclear region of cytoplasm	GO:048471	9.1	TLR4, HCRT, SNCA, APOD, CNP, NPC1
6	extracellular space	GO:005615	8.5	PSAP, SMPD1, CCL18, CCL3, APOD, LCAT
7	extracellular region	GO:005576	8.0	NPC2, NPC1, NPB, PSAP, HCRT, SNCA

Biological processes related to niemann-pick disease according to GeneDecks:

(show all 20)

id	Name	GO ID	Score	Top Affiliating Genes
1	cholesterol efflux	GO:033344	10.3	ABCA1, NPC1, NPC2
2	sphingomyelin metabolic process	GO:006684	10.3	SMPD1, SMPD2
3	cholesterol transport	GO:030301	10.3	NPC2, NPC1L1, NPC1, LCAT
4	termination of signal transduction	GO:023021	10.2	SMPD1, GBA
5	cholesterol metabolic process	GO:008203	10.2	NPC2, NPC1, ABCA1, LCAT
6	negative regulation of platelet-derived growth factor receptor signaling pathway	GO:010642	10.1	APOD, SNCA
7	axon cargo transport	GO:008088	10.1	UGT8, APP, MAPT
8	intracellular cholesterol transport	GO:032367	10.1	ABCA1, NPC2
9	lipoprotein metabolic process	GO:042157	10.1	NPC1L1, ABCA1, LCAT
10	cholesterol homeostasis	GO:042632	10.1	NPC2, NPC1L1, NPC1, ABCA1, LCAT
11	adult locomotory behavior	GO:008344	10.0	CNP, APP, SNCA
12	adult walking behavior	GO:007628	10.0	MAPT, HEXA, NPC1
13	lysosome organization	GO:007040	9.8	GBA, HEXA, ABCA1
14	axon ensheathment	GO:008366	9.7	MBP, PLP1
15	glycosphingolipid metabolic process	GO:006687	9.2	UGCG, GBA, PSAP, HEXA, SMPD2, SMPD1
16	sphingolipid metabolic process	GO:006665	9.2	GBA, PSAP, HEXA, SMPD2, SMPD1, ASAH2
17	cell death	GO:008219	9.0	GBA, HEXA, PLP1, SMPD1
18	phospholipid metabolic process	GO:006644	8.8	GBA, PSAP, HEXA, SMPD2, SMPD1, SNCA
19	small molecule metabolic process	GO:044281	8.6	HEXA, PSAP, NPC1L1, GBA, ABCA1, SMPD2
20	response to toxin	GO:009636	8.2	TLR4, CCL3, MBP, CES1, CNP

Molecular functions related to niemann-pick disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sphingomyelin phosphodiesterase activity	GO:004767	10.1	SMPD1, SMPD2
2	apolipoprotein A-I binding	GO:034186	10.0	LCAT, ABCA1
3	cholesterol binding	GO:015485	10.0	APOD, ABCA1, NPC1, NPC2
4	cation binding	GO:043169	9.4	GBA, HEXA, CHIT1, NAGA
5	structural constituent of myelin sheath	GO:019911	9.4	MBP, PLP1