Acid Sphingomyelinase Deficiency malady

MalaCards: Acid Sphingomyelinase Deficiency, 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 Acid Sphingomyelinase Deficiency is SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal), and among its related pathways are Selected targets of C/EBPbeta and LDL Oxidation in Atherogenesis. The compounds monensin and cerebroside have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, brain and lung, and related mouse phenotypes are immune system and growth/size.

GeneReviews summary for npab

acid sphingomyelinase deficiency 15 16 niemann-pick disease, type a 43

Diseases related to acid sphingomyelinase deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 74)

id	Related Disease	Score	Top Affiliating Genes
1	niemann-pick disease type c1	31.5	NPC1, SMPD1
2	niemann–pick disease	31.1	M6PR, SMPD1, NPC1
3	lysosomal storage disease	29.5	M6PR, SMPD1, NPC1
4	pick's disease	28.8	CNP, UGT8, MPZ, MBP, MAG, CCL3
5	mucolipidosis ii	13.1	NPC1, SMPD1
6	wallerian degeneration	13.1	MAG, MPZ
7	central pontine myelinolysis	13.0	MAG, MBP
8	sensory peripheral neuropathy	13.0	MAG, MPZ
9	hyperphenylalaninemia	13.0	MBP, CNP
10	chronic inflammatory demyelinating polyradiculoneuropathy	12.9	MBP, MPZ
11	acute disseminated encephalomyelitis	12.9	MPZ, MBP
12	polyradiculoneuropathy	12.9	MBP, MPZ
13	mucolipidosis	12.8	SMPD1, NPC1
14	neurofibroma	12.7	CNP, MBP, MAG
15	glycogen storage disease ii	12.7	M6PR, IGF2R
16	tropical spastic paraparesis	12.7	MBP, CCL3
17	htlv-1 associated myelopathy	12.7	CCL3, MBP
18	hereditary neuropathies	12.7	MPZ, MAG, PLP1
19	neurilemmoma	12.6	MAG, MBP, MPZ
20	polyneuropathy	12.5	MAG, MBP, MPZ
21	granular cell tumor	12.5	MPZ, MBP
22	paralysis	12.5	MPZ, MBP, MAG
23	bilirubin metabolic disorder	12.5	MBP, SMPD1, NPC1
24	spinal cord injury	12.5	CNP, MPZ, MBP
25	tremor	12.5	MPZ, PLP1, NPC1
26	guillain-barre syndrome	12.5	MPZ, MBP, PLP1
27	adrenoleukodystrophy	12.4	MPZ, MBP, PLP1
28	cocaine abuse	12.4	MBP, PLP1
29	paraplegia	12.4	MPZ, MBP, PLP1
30	tetanus	12.4	MPZ, MBP, PLP1
31	monoclonal gammopathy of undetermined significance	12.3	CCL3, MPZ
32	temporal lobe epilepsy	12.3	CNP, CCL3, PLP1
33	allergic encephalomyelitis	12.3	MBP, CCL3, PLP1
34	oculomotor apraxia cogan type	12.2	UGT8, MBP, PLP1
35	pelizaeus-merzbacher disease	12.2	PLP1, MBP, MPZ, CNP
36	neurologic diseases	12.2	CCL3, MBP, MPZ
37	peripheral neuropathy	12.2	NPC1, PLP1, MAG, MPZ
38	nervous system disease	12.2	MPZ, MBP, MAG, PLP1
39	tooth disease	12.1	PLP1, MAG, MBP, MPZ
40	charcot-marie-tooth disease	12.1	PLP1, MAG, MBP, MPZ
41	central nervous system disease	12.1	MBP, PLP1
42	acquired immunodeficiency syndrome	12.1	M6PR, CCL3, MBP
43	oligodendroglioma	12.0	PLP1, SMPD1, MBP, UGT8, CNP
44	encephalitis	11.9	CNP, MBP, CCL3, PLP1
45	myasthenia gravis	11.9	PLP1, CCL3, MAG, MBP
46	congenital myasthenic syndrome	11.9	PLP1, CCL3, MAG, MBP
47	optic neuritis	11.9	PLP1, MAG, MBP, MPZ, CNP
48	neuritis	11.9	PLP1, MAG, MBP, MPZ, CNP
49	meningitis	11.8	PLP1, CCL3, MBP, MPZ
50	spasticity	11.8	PLP1, CCL3, MBP, MPZ

Approved drugs:

Drug clinical trials:

Genetic tests related to acid sphingomyelinase deficiency:

id	Genetic test	Affiliating Genes
1	Acid Sphingomyelinase Deficiency clinical/research	SMPD1

MalaCards organs/tissues related to acid sphingomyelinase deficiency:

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MGI Mouse Phenotypes related to acid sphingomyelinase deficiency:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	immune system phenotype	MP:0005387	6.9	NPC1, PLP1, SMPD1, CCL3, CNP, UGT8
2	growth/size phenotype	MP:0005378	6.8	UGT8, CCL3, IGF2R, M6PR, SMPD1, NPC1
3	reproductive system phenotype	MP:0005389	6.8	NPC1, PLP1, SMPD1, M6PR, IGF2R, MBP
4	nervous system phenotype	MP:0003631	6.6	NPC1, CNP, PLP1, IGF2R, CCL3, MAG
5	cellular phenotype	MP:0005384	6.2	CCL3, MBP, MPZ, NPC1, PLP1, SMPD1
6	homeostasis/metabolism phenotype	MP:0005376	6.0	CNP, NPC1, PLP1, SMPD1, M6PR, MBP
7	mortality/aging	MP:0010768	5.9	NPC1, MBP, PLP1, SMPD1, M6PR, IGF2R
8	behavior/neurological phenotype	MP:0005386	5.7	MBP, CNP, NPC1, MPZ, MAG, CCL3

Articles related to acid sphingomyelinase deficiency:

(show all 25)

id	Title	Authors	Year	Affiliating Genes
1	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
2	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
3	Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. (18679423)	Rebillard A.... Dimanche-Boitrel M.T.	2008	SMPD1
4	The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (17632693)	Schuchman E.H.	2007	SMPD1
5	Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. (16143556)	Tamura H.... Inagaki N.	2006	SMPD1, NPC1
6	Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)	Wasserstein M.P.... McGovern M.M.	2006	SMPD1
7	Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. (16642440)	Simonaro C.M.... Schuchman E.H.	2006	SMPD1
8	Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. (16601902)	Ishii H.... Takada G.	2006	SMPD1
9	Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. (15877209)	Pavlu-Pereira H.... Elleder M.	2005	SMPD1
10	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
11	Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice. (12213735)	Butler A.... Schuchman E.H.	2002	SMPD1
12	Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span. (11994407)	Jin H.K.... Schuchman E.H.	2002	SMPD1
13	Apoptosis and signalling in acid sphingomyelinase deficient cells. (11722792)	Sillence D.J.	2001	SMPD1
14	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
15	Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. (11173664)	Rethy L.A.... Fekete G.	2000	SMPD1
16	Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease. (11083499)	Miranda S.R.... Schuchman E.H.	2000	SMPD1
17	MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. (10206162)	Obenberger J.... Elleder M.	1999	SMPD1
18	Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies) (9645083)	Higaki K.... Ohno K.	1998	SMPD1
19	Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. (9266408)	Pavluu H.... Elleder M.	1997	SMPD1
20	Pathology of visceral organs and bone marrow in an acid sphingomyelinase deficient knock-out mouse line, mimicking human Niemann-Pick disease type A. A light and electron microscopic study. (9505258)	Kuemmel T.A.... Stoffel W.	1997	SMPD1
21	Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. (8706124)	Santana P.... Kolesnick R.	1996	SMPD1
22	Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)	Otterbach B.... Stoffel W.	1995	SMPD1
23	Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. (7670466)	Horinouchi K.... Schuchman E.H.	1995	SMPD1
24	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
25	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 acid sphingomyelinase deficiency according to GeneCards:

(show all 11)

id	Symbol	Description	Score	GeneCards Section Context
1	SMPD1	sphingomyelin phosphodiesterase 1, acid lysosomal	11.0	Publications
2	CNP	2',3'-cyclic nucleotide 3' phosphodiesterase	11.0	Publications
3	M6PR	mannose-6-phosphate receptor (cation dependent)	11.0	Publications
4	UGT8	UDP glycosyltransferase 8	11.0	Publications
5	MAG	myelin associated glycoprotein	11.0	Publications
6	PLP1	proteolipid protein 1	11.0	Publications
7	MPZ	myelin protein zero	11.0	Publications
8	NPC1	Niemann-Pick disease, type C1	11.0	Publications
9	CCL3	chemokine (C-C motif) ligand 3	11.0	Publications
10	IGF2R	insulin-like growth factor 2 receptor	11.0	Publications
11	MBP	myelin basic protein	11.0	Publications

Pathways related to acid sphingomyelinase deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Selected targets of C/EBPbeta10	9.3	MBP, CCL3
2	LDL Oxidation in Atherogenesis36	9.3	CCL3, SMPD1
3	Lysosome20	8.4	IGF2R, M6PR, SMPD1, NPC1

Compounds related to acid sphingomyelinase deficiency according to GeneDecks:

(show all 30)

id	Compound	Score	Top Affiliating Genes
1	monensin32	9.9	SMPD1, M6PR
2	cerebroside32	9.8	MBP, UGT8
3	cerebrosides32	9.8	MPZ, MBP
4	Alpha-D-Mannose-6-Phosphate9 9	10.7	M6PR, IGF2R
5	phosphoserine32 18	10.6	MBP, CNP, MAG
6	phosphothreonine32	9.5	MAG, MBP
7	glatiramer acetate32 9 9	11.4	PLP1, MPZ, MBP
8	u18666a32	9.4	NPC1, IGF2R
9	glycolipid32	9.1	UGT8, MPZ, NPC1, MAG
10	mannose32	9.1	M6PR, IGF2R, SMPD1
11	cocaine32 9 9	11.1	MBP, CCL3, PLP1
12	phosphatidylcholine32	9.1	NPC1, PLP1, SMPD1, MBP
13	mannose 6-phosphate32 18	9.9	NPC1, SMPD1, M6PR, IGF2R
14	2,3-cyclic nucleotide32	8.8	MPZ, MBP, MAG, PLP1, CNP
15	sulfatide32	8.8	MPZ, MBP, MAG, PLP1, UGT8
16	sucrose32 9 18 9	11.7	IGF2R, M6PR, CNP
17	heparan sulfate32 18	9.7	M6PR, CCL3, IGF2R
18	phospholipid32	8.7	IGF2R, MBP, PLP1, SMPD1
19	thymidine32 18	9.7	MBP, MAG, CCL3, PLP1
20	ganglioside32	8.7	MBP, MAG, MPZ, SMPD1, NPC1
21	wortmannin32 42	9.6	M6PR, IGF2R, SMPD1, CCL3
22	polysaccharide32	8.6	M6PR, IGF2R, CCL3, MAG
23	aspartate32	8.5	CCL3, MAG, MBP, MPZ, SMPD1
24	glutamate32	8.4	CCL3, PLP1, MBP, CNP, MPZ
25	arginine32	8.0	PLP1, MPZ, IGF2R, M6PR, SMPD1, MBP
26	tyrosine32	7.8	MPZ, M6PR, MBP, MAG, IGF2R, SMPD1
27	cholesterol32 9 18 9	10.4	MPZ, CCL3, IGF2R, M6PR, SMPD1, PLP1
28	serine32	7.4	SMPD1, M6PR, IGF2R, CCL3, MAG, MBP
29	cysteine32	6.5	NPC1, PLP1, SMPD1, M6PR, MPZ, MBP
30	lipid32	6.5	CNP, NPC1, UGT8, MPZ, MBP, MAG

Cellular components related to acid sphingomyelinase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	compact myelin	GO:043218	9.2	MBP, PLP1
2	lysosomal membrane	GO:005765	8.8	IGF2R, M6PR, NPC1

Biological processes related to acid sphingomyelinase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of axonogenesis	GO:050771	9.6	MBP, MAG
2	axon ensheathment	GO:008366	9.5	PLP1, MBP
3	response to toxin	GO:009636	8.9	CCL3, MBP, CNP
4	synaptic transmission	GO:007268	8.5	CNP, PLP1, MBP, MPZ

Molecular functions related to acid sphingomyelinase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mannose binding	GO:005537	9.3	IGF2R, M6PR
2	structural constituent of myelin sheath	GO:019911	9.2	MBP, PLP1