MCID: NMN002
MIFTS: 87

Niemann-Pick Disease malady

Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic diseases categories

Summaries for Niemann-Pick Disease

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42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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. last updated: 8/2/2010

MalaCards: Niemann-Pick Disease, also known as niemann-pick disease, type a, is related to acid sphingomyelinase deficiency and niemann–pick disease. An important gene associated with Niemann-Pick Disease is SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal), and among its related pathways are Cholesterol and Sphingolipids transport / Generic schema (normal and CF) and Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF). The compounds tmao and 24s-hydroxy-cholesterol have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and brain, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Description from OMIM:46 257220,257200,607625,607616

GeneReviews summary for npc

Aliases & Classifications for Niemann-Pick Disease

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
niemann-pick disease type b:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Young adult
niemann-pick disease type a:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

niemann-pick disease 8 30
niemann-pick disease, type a 9 20 22 46 60
niemann-pick disease, type c 8 20 22 60
niemann-pick disease, type b 9 46 60
niemann pick disease type b 42 20 22
niemann-pick disease type b 8 42 48
sphingomyelin/cholesterol lipidosis 8 22
niemann-pick disease type a 8 48
niemann-pick disease type c 8 19
lipoid histiocytosis 8 60
niemann-pick disease with cholesterol esterification block 8
niemann-pick disease, subacute juvenile form 8
sphingomyelinase deficiency disease 8
juvenile niemann-pick disease 19
niemann-picks disease type b 44
niemann-picks disease type c 44
niemann-pick disease, type e 60
type a niemann-pick disease 8
niemann-pick disease type e 48
sphingomyelin lipidosis 8
niemann-pick diseases 60


External Ids:

Disease Ontology8 DOID:14504
NCIt39 C61269
SNOMED-CT56 66751000, 58459009
MESH via Orphanet35 D052537, D052536
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet57 39390005, 52165006, 73399005
UMLS via Orphanet61 C0268243, C0268242, C0268248

Related Diseases for Niemann-Pick Disease

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17GeneCards, 18GeneDecks
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Diseases in the 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 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1acid sphingomyelinase deficiency31.3SMPD1
2niemann–pick disease31.2SMPD1, CHIT1, NPC2, NPC1, NPB
3brain disease31.0APP, SNCA, MAPT, HCRT
4lysosomal storage disease31.0M6PR
5gaucher's disease30.6CHIT1, PSAP, CCL18
6sphingolipidosis30.5NPC1, PSAP, ASAH2
7progressive supranuclear palsy30.3MAPT
8neuroaxonal dystrophy30.2SNCA, NAGA
9amyloidosis30.2MAPT, SNCA, APP
10schizophrenia30.2APOD, SNCA, HCRT
11central nervous system disease30.2APP, MAPT, HCRT
12cystic fibrosis30.2SMPD1, ABCA1
13multiple sclerosis30.2HCRT, CHIT1
14dementia30.2APP, NPC1, NPC2, SNCA, CHIT1, MAPT
15alzheimer's disease30.2M6PR, APP, APOD, NPC1, SNCA, CHIT1
16liver disease10.8
17niemann-pick disease type c110.8
18skin disease10.7
19neurologic diseases10.7
20neuronitis10.7
21niemann-pick disease type d10.6
22hepatitis10.6
23histiocytosis10.6
24niemann-pick disease type c210.6
25chromosomal disease10.5
26sea-blue histiocyte syndrome10.4
27cerebritis10.4
28cerebellar disease10.4
29glycogen storage disease10.4
30nervous system disease10.4
31splenic disease10.4
32niemann-pick disease type c, juvenile neurologic onset10.4
33hepatitis c10.3
34juvenile xanthogranuloma10.3
35adult syndrome10.3
36hepatocellular carcinoma10.3
37lipid storage disease10.3
38osteomyelitis10.3
39peripheral nervous system disease10.3
40niemann-pick disease type c, severe perinatal form10.3
41niemann-pick disease type c, late infantile neurologic onset10.3
42niemann-pick disease type c, severe early infantile neurologic onset10.3
43niemann-pick disease type c, adult neurologic onset10.3
44graft versus host disease10.2
45coronary artery disease10.2
46crohn's disease10.2
47membranoproliferative glomerulonephritis10.2
48familial mediterranean fever10.2
49biliary atresia10.2
50tay-sachs disease10.2

Graphical network of the top 20 diseases related to Niemann-Pick Disease:



Diseases related to niemann-pick disease

Clinical Features for Niemann-Pick Disease

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46OMIM
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Clinical features from OMIM:

257220,257200,607625,607616

Clinical synopsis from OMIM:

257200

Drugs & Therapeutics for Niemann-Pick Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Niemann-Pick Disease

Drug clinical trials:

Search ClinicalTrials for Niemann-Pick Disease

Search NIH Clinical Center for Niemann-Pick Disease

Search CenterWatch for Niemann-Pick Disease

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Niemann-Pick Disease cell therapies at LifeMap Discovery.

Genetic Tests for Niemann-Pick Disease

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20GeneTests, 22GTR
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Genetic tests related to Niemann-Pick Disease:

id Genetic test Affiliating Genes
1 Niemann-Pick Disease Type C20
2 Niemann-Pick Disease Type a20
3 Niemann-Pick Disease Type B20
4 Sphingomyelin/cholesterol Lipidosis22
5 Niemann-Pick Disease, Type a22
6 Niemann-Pick Disease, Type B22
7 Niemann-Pick Disease, Type C22

Anatomical Context for Niemann-Pick Disease

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32MalaCards
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MalaCards organs/tissues related to Niemann-Pick Disease:

32
Bone, Liver, Brain, Bone marrow, Lung, Spleen, Skin, Testes, Eye, Thalamus, Cerebellum, T cells, Spinal cord, Cortex, Dorsal root ganglion

Animal Models for Niemann-Pick Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Niemann-Pick Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.5LCAT, NPC1, NPC2, NPC1L1, PSAP, ABCA1
2MP:00053679.5LCAT, PSAP, SNCA, MAPT, ABCA1, M6PR
3MP:00036318.9APP, APOD, NPC1, NPC2, PSAP, SNCA
4MP:00053878.9APP, NPC1, NPC2, PSAP, SNCA, CHIT1
5MP:00053868.8M6PR, APP, APOD, NPB, NPC1, NPC2
6MP:00053788.7NPC2, NPC1, NPB, APP, M6PR, NPC1L1
7MP:00053768.5SMPD1, M6PR, LCAT, APP, APOD, NPC1

Publications for Niemann-Pick Disease

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50PubMed
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Articles related to Niemann-Pick Disease:

(show top 50)    (show all 581)
idTitleAuthorsYear
1
Auditory phenotype of niemann-pick disease, type c1. (24225652)
2014
2
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. (22718274)
2013
3
Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series. (23143717)
2013
4
Morbidity and mortality in type B Niemann-Pick disease. (23412609)
2013
5
Two siblings with Niemann-Pick disease (NPD) type B: clinical findings and novel mutations of the acid sphingomyelinase gene. (22367733)
2013
6
Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders. (23228552)
2013
7
R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease. (23188845)
2012
8
Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C. (22329857)
2012
9
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. (23144710)
2012
10
Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat. (20207562)
2011
11
White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study. (21220727)
2011
12
Mitotic epitopes are incorporated into age-dependent neurofibrillary tangles in Niemann-Pick disease type C. (19476463)
2010
13
White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study. (20484681)
2010
14
Chemical screen to reduce sterol accumulation in Niemann-Pick C disease cells identifies novel lysosomal acid lipase inhibitors. (19699313)
2009
15
Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease. (19231265)
2009
16
Prenatal revelation of Niemann-Pick disease type C in siblings. (18554276)
2008
17
In vivo antisense oligonucleotide reduction of NPC1 expression as a novel mouse model for Niemann Pick type C- associated liver disease. (18438776)
2008
18
Quantitative evaluation of sphingomyelin and glucosylceramide using matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard. Practical application to tissues from patients with Niemann-Pick disease types A and C, and Gaucher disease. (18502707)
2008
19
Gingival enlargement in Niemann-Pick disease: a coincidence or link? Report of a unique case. (17964470)
2007
20
Secondary sea-blue histiocytosis derived from Niemann-Pick disease. (17510534)
2007
21
Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation. (17044092)
2006
22
Pulmonary involvement by Niemann-Pick disease. A report of six cases. (16623786)
2006
23
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. (16143556)
2006
24
Niemann-pick disease type C and Crohn's disease. (15977522)
2005
25
Extra copy of 20q deletion, acute myelomonocytic leukemia (M4) and Niemann-Pick disease. (16027483)
2005
26
Saccharomyces cerevisiae Npc2p is a functionally conserved homologue of the human Niemann-Pick disease type C 2 protein, hNPC2. (16278452)
2005
27
Clear cell chondrosarcoma in association with niemann-pick disease. (18521415)
2005
28
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. (15774455)
2005
29
Comparative effects of recombinant acid sphingomyelinase administration by different routes in niemann-pick disease mice. (15516789)
2004
30
Axonal dystrophy of dorsal root ganglion sensory neurons in a mouse model of Niemann-Pick disease type C. (15144855)
2004
31
Before the loss: neuronal dysfunction in Niemann-Pick Type C disease. (15465427)
2004
32
Heterozygous Niemann-Pick disease type C presenting with tremor. (15596783)
2004
33
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. (12554680)
2003
34
Ex vivo gene therapy using bone marrow-derived cells: combined effects of intracerebral and intravenous transplantation in a mouse model of Niemann-Pick disease. (14664789)
2003
35
Niemann-Pick disease: ultrastructural features. (10992342)
2000
36
Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. (11023983)
2000
37
Molecular cloning of the mouse apolipoprotein D gene and its upregulated expression in Niemann-Pick disease type C mouse model. (8892759)
1996
38
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. (7670466)
1995
39
Feline Niemann-Pick disease type C. (8203477)
1994
40
Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. (7688422)
1993
41
Filipin test for diagnosis of Niemann-Pick disease type C. (7992006)
1993
42
Nonimmune hydrops in fetal Niemann-Pick disease. (1986613)
1991
43
Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity. (1817036)
1991
44
Clinical improvement with DMSO treatment in a patient with Niemann-Pick disease (type C). (3150242)
1988
45
Pseudo-osteomyelitis in Niemann-Pick disease. (3402156)
1988
46
Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. (3277970)
1988
47
Successful therapy of Niemann-Pick disease by implantation of human amniotic membrane. (3037739)
1987
48
Ocular manifestations of adult Niemann-Pick disease: a case report. (3964479)
1986
49
Sphingomyelinase and nonspecific phosphodiesterase activities in Epstein-Barr virus-transformed lymphoid cell lines from Niemann-Pick disease A, B and C. (6324871)
1984
50
Peripheral neuropathy in type A Niemann-Pick disease. A morphological study. (6328834)
1984

Genetic Variations for Niemann-Pick Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Niemann-Pick Disease:

62 (show all 85)
id Symbol AA change Variation ID SNP ID
1SMPD1p.Gly242ArgVAR_005058
2SMPD1p.Glu246GlnVAR_005059
3SMPD1p.Leu302ProVAR_005060
4SMPD1p.Met382IleVAR_005061
5SMPD1p.Met382IleVAR_005061
6SMPD1p.Asn383SerVAR_005062
7SMPD1p.Asn389ThrVAR_005063
8SMPD1p.Trp391GlyVAR_005064
9SMPD1p.Ser436ArgVAR_005065
10SMPD1p.Arg496LeuVAR_005066
11SMPD1p.Gly577SerVAR_005067
12SMPD1p.Cys157ArgVAR_011387
13SMPD1p.Tyr446CysVAR_011388
14SMPD1p.Ser248ArgVAR_015287
15SMPD1p.Ser248ArgVAR_015287
16SMPD1p.His319TyrVAR_015288
17SMPD1p.Pro371SerVAR_015289
18SMPD1p.His421TyrVAR_015290
19SMPD1p.Phe463SerVAR_015291
20SMPD1p.Pro475LeuVAR_015292
21SMPD1p.Pro475LeuVAR_015292
22SMPD1p.Tyr537HisVAR_015293
23SMPD1p.Asp49ValVAR_060870
24SMPD1p.Cys92TrpVAR_060871
25SMPD1p.Leu103ProVAR_060872
26SMPD1p.Leu103ProVAR_060872
27SMPD1p.Val130AlaVAR_060873
28SMPD1p.Leu137ProVAR_060874
29SMPD1p.Gly166ArgVAR_060875
30SMPD1p.Ile176AsnVAR_060876
31SMPD1p.Ala196ProVAR_060878
32SMPD1p.Arg200CysVAR_060879
33SMPD1p.Leu225MetVAR_060880
34SMPD1p.Leu225ProVAR_060881
35SMPD1p.Arg228CysVAR_060882
36SMPD1p.Gly232AspVAR_060884
37SMPD1p.Trp244CysVAR_060886
38SMPD1p.Gly245SerVAR_060887
39SMPD1p.Gly245SerVAR_060887
40SMPD1p.Glu246LysVAR_060888
41SMPD1p.Ala281ThrVAR_060891
42SMPD1p.Arg289HisVAR_060892
43SMPD1p.Arg294GlnVAR_060894
44SMPD1p.Tyr313HisVAR_060895
45SMPD1p.Pro323AlaVAR_060896
46SMPD1p.Pro330ArgVAR_060897
47SMPD1p.Ala357AspVAR_060899
48SMPD1p.Tyr367CysVAR_060900
49SMPD1p.Arg376HisVAR_060901
50SMPD1p.Arg376LeuVAR_060902
51SMPD1p.Ser379ProVAR_060903
52SMPD1p.Ala413ValVAR_060905
53SMPD1p.His421ArgVAR_060906
54SMPD1p.Cys431ArgVAR_060907
55SMPD1p.Leu432ProVAR_060908
56SMPD1p.Trp435CysVAR_060909
57SMPD1p.Leu450ProVAR_060910
58SMPD1p.Ala452ValVAR_060911
59SMPD1p.Gly456AspVAR_060912
60SMPD1p.Tyr467SerVAR_060913
61SMPD1p.Arg474TrpVAR_060914
62SMPD1p.Phe480LeuVAR_060915
63SMPD1p.Ala482GluVAR_060916
64SMPD1p.Ala485ValVAR_060917
65SMPD1p.Thr486AlaVAR_060918
66SMPD1p.Tyr488AsnVAR_060919
67SMPD1p.Gly494SerVAR_060920
68SMPD1p.Arg496CysVAR_060921
69SMPD1p.Arg496HisVAR_060922
70SMPD1p.His514GlnVAR_060924
71SMPD1p.Glu515ValVAR_060925
72SMPD1p.Tyr517CysVAR_060926
73SMPD1p.Trp533ArgVAR_060927
74SMPD1p.Leu549ProVAR_060928
75SMPD1p.Asp563TyrVAR_060929
76SMPD1p.Lys576AsnVAR_060930
77SMPD1p.Arg600HisVAR_060932
78SMPD1p.Arg600ProVAR_060933
79SMPD1p.Trp209ArgVAR_068435
80SMPD1p.Asp251HisVAR_068436
81SMPD1p.Val312MetVAR_068437
82SMPD1p.His425ArgVAR_068438
83SMPD1p.Ala451AspVAR_068439
84SMPD1p.Asn520SerVAR_068440
85SMPD1p.Gln523HisVAR_068441

Expression for genes affiliated with Niemann-Pick Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Niemann-Pick Disease

Search GEO for disease gene expression data for Niemann-Pick Disease.

Pathways for genes affiliated with Niemann-Pick Disease

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Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database
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Pathways related to Niemann-Pick Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cholesterol and Sphingolipids transport / Generic schema (normal and CF)
10.2NPC1, NPC2
2
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
10.2ABCA1, APOD
3
Hide members
10.1SMPD1, ASAH2, PSAP
4
Hide members
10.0ABCA1, NPC1L1, LCAT
5
Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
10.0RAB9A, NPC2, NPC1
69.6SMPD1, M6PR, NPC1, NPC2, PSAP, NAGA

Compounds for genes affiliated with Niemann-Pick Disease

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience
See all sources

Compounds related to Niemann-Pick Disease according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1tmao4410.4MAPT, SNCA
224s-hydroxy-cholesterol4410.4APP, ABCA1
3thioflavin4410.4APP, SNCA, MAPT
4thioflavine s4410.4MAPT, SNCA, APP
5u18666a4410.4APP, NPC1
6methionine sulfoxide44 11 2412.4APP, SNCA, ABCA1
7monensin4410.3SMPD1, ABCA1, M6PR
8sphingosine44 11 2412.3NPC2, PSAP, ASAH2, SMPD1
9dihydroceramide44 2411.3SMPD1, ASAH2, NPC2
10glycolipid4410.3NPC1, NPC2, PSAP, NAGA
11thioflavin t4410.3SNCA, APP
12formate4410.3MAPT, SNCA, APP
13tacrine44 1111.3MAPT, APP
14glucosylceramide44 2411.3NPC2, PSAP, CHIT1, ASAH2, SMPD1
15ceramide4410.3PSAP, ABCA1, ASAH2, SMPD1
16donepezil44 11 2412.2APP, MAPT
17ganglioside4410.2APP, NPC1, NPC2, PSAP, SMPD1
184-hydroxynonenal44 2411.2MAPT, SNCA, APP, LCAT
19sterol4410.2ABCA1, NPC1L1, NPC2, NPC1, LCAT
20sodium dodecylsulfate4410.2MAPT, SNCA, APP, LCAT
21lactacystin4410.2APP, SNCA, MAPT, ABCA1
22carbachol44 28 1112.2APP, SNCA, MAPT, HCRT
23valine4410.1MAPT, SNCA, PSAP, APP
24phosphatidylcholine4410.1LCAT, NPC1, SNCA, ABCA1, SMPD1
25phosphatidylserine44 28 1112.1PSAP, SNCA, MAPT, ABCA1
26mannose 6-phosphate44 2411.1M6PR, NPC1, PSAP, RAB9A, SMPD1
27methionine4410.1LCAT, SNCA, MAPT, ABCA1, SMPD1
28choline44 11 2412.1APP, PSAP, SNCA, MAPT, ABCA1
29memantine44 28 1112.0MAPT, APP
30fatty acid4410.0LCAT, APOD, SNCA, ABCA1, ASAH2
31phospholipid4410.0LCAT, APOD, PSAP, SNCA, ABCA1, SMPD1
32alpha tocopherol4410.0LCAT, SNCA, ABCA1
33acetylcholine44 49 28 11 2413.9HCRT, MAPT, SNCA, APP
34atp44 2810.8NPC1, NPC1L1, PSAP, HCRT, NAGA, ABCA1
35arginine449.8M6PR, APP, PSAP, SNCA, MAPT, SMPD1
36glutamate449.8LCAT, APP, SNCA, MAPT, HCRT, ABCA1
37alanine449.7LCAT, CCL18, APP, SNCA, MAPT, HCRT
38glucose449.6APOD, PSAP, SNCA, MAPT, HCRT, NAGA
39testosterone44 59 11 2412.6LCAT, APP, APOD, PSAP, SNCA, MAPT
40cysteine449.6M6PR, LCAT, APP, NPC1, PSAP, SNCA
41dexamethasone44 49 28 1112.6ABCA1, HCRT, APP, CCL18, LCAT
42serine449.5M6PR, LCAT, APP, PSAP, SNCA, MAPT
43oligonucleotide449.5APOD, PSAP, HCRT, ABCA1, SMPD1
44cholesterol44 28 11 2411.9M6PR, SMPD1, RAB9A, ABCA1, HCRT, SNCA
45lipid448.6M6PR, LCAT, SMPD1, ASAH2, RAB9A, ABCA1

GO Terms for genes affiliated with Niemann-Pick Disease

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16Gene Ontology
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Cellular components related to Niemann-Pick Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.8RAB9A, NAGA, CHIT1, NPC2, NPC1
2Golgi apparatusGO:0057949.7ABCA1, SNCA, PSAP, NPC1, APP
3perinuclear region of cytoplasmGO:0484719.6APP, APOD, NPC1, SNCA, HCRT
4extracellular spaceGO:0056159.3LCAT, CCL18, APOD, PSAP, CHIT1, SMPD1
5extracellular regionGO:0055769.1LCAT, APP, APOD, NPB, NPC1, NPC2

Biological processes related to Niemann-Pick Disease according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cholesterol effluxGO:03334410.3ABCA1, NPC2, NPC1
2intracellular cholesterol transportGO:03236710.3NPC2, ABCA1
3glycosphingolipid metabolic processGO:00668710.2SMPD1, ASAH2, PSAP
4cholesterol transportGO:03030110.2NPC1L1, NPC2, NPC1, LCAT
5lipoprotein metabolic processGO:04215710.2ABCA1, NPC1L1, LCAT
6negative regulation of platelet-derived growth factor receptor signaling pathwayGO:01064210.2SNCA, APOD
7reverse cholesterol transportGO:04369110.2ABCA1, LCAT
8cholesterol homeostasisGO:04263210.0LCAT, NPC1, NPC2, NPC1L1, ABCA1
9sphingolipid metabolic processGO:00666510.0PSAP, ASAH2, SMPD1
10response to drugGO:04249310.0APOD, NPC1, NPC1L1, SNCA, SMPD1
11cholesterol metabolic processGO:00820310.0LCAT, APP, NPC1, NPC2, ABCA1
12axon cargo transportGO:0080889.8MAPT, APP

Molecular functions related to Niemann-Pick Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apolipoprotein A-I bindingGO:03418610.2ABCA1, LCAT
2apolipoprotein bindingGO:03418510.1ABCA1, MAPT
3cholesterol bindingGO:01548510.0ABCA1, NPC2, NPC1, APOD
4hedgehog receptor activityGO:0081589.9NPC1L1, NPC1
5protein bindingGO:0055158.2NPB, APOD, APP, CCL18, LCAT, NPC1

Products for genes affiliated with Niemann-Pick Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Niemann-Pick Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet