MCID: NMN002
MIFTS: 72

Niemann-Pick Disease malady

Neuronal, Eye, Respiratory, Metabolic categories

Summaries for Niemann-Pick Disease

Sources:
43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NIH Rare Diseases:43 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 niemann–pick disease and pick's 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 skin, liver and spinal cord, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Description from OMIM:47 257220,257200,607625,607616

GeneReviews summary for npc

Aliases & Classifications for Niemann-Pick Disease

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Respiratory, Metabolic


Characteristics (Orphanet epidemiological data):

49
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 31
niemann-pick disease, type a 9 20 22 47 61
niemann-pick disease, type c 8 20 22 61
niemann-pick disease, type b 9 47 61
niemann pick disease type b 43 20 22
niemann-pick disease type b 8 43 49
sphingomyelin/cholesterol lipidosis 8 22
niemann-pick disease type a 8 49
niemann-pick disease type c 8 19
lipoid histiocytosis 8 61
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 45
niemann-picks disease type c 45
niemann-pick disease, type e 61
type a niemann-pick disease 8
niemann-pick disease type e 49
sphingomyelin lipidosis 8
niemann-pick diseases 61


External Ids:

Disease Ontology8 DOID:14504
NCIt40 C61269
SNOMED-CT57 66751000, 58459009
MESH via Orphanet36 D052537, D052536
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet58 39390005, 52165006, 73399005
UMLS via Orphanet62 C0268243, C0268242, C0268248

Related Diseases for Niemann-Pick Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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 104)
idRelated DiseaseScoreTop Affiliating Genes
1niemann–pick disease32.3SMPD1, CHIT1, NPC2, NPC1, NPB
2pick's disease32.1MAPT, SNCA, APP
3brain disease31.2APP, SNCA, MAPT, HCRT
4acid sphingomyelinase deficiency30.9SMPD1
5splenomegaly30.7ABCA1, CHIT1, LCAT
6sphingolipidosis30.5NPC1, PSAP, ASAH2
7gaucher's disease30.5CHIT1, PSAP, CCL18
8progressive supranuclear palsy30.3MAPT
9neuroaxonal dystrophy30.3SNCA, NAGA
10amyloidosis30.3MAPT, SNCA, APP
11cystic fibrosis30.3SMPD1, ABCA1
12niemann-pick disease type d11.5
13m�ni�re disease11.0
14lip disease10.9
15niemann-pick disease type c110.8
16niemann-pick disease type c210.7
17n syndrome10.6
18splenic disease10.5
19niemann-pick disease type c, juvenile neurologic onset10.5
20juvenile xanthogranuloma10.4
21hepatitis d10.4
22adult syndrome10.4
23dysphagia10.4
24myoclonus10.4
25tremor10.4
26niemann-pick disease type c, severe perinatal form10.4
27niemann-pick disease type c, late infantile neurologic onset10.4
28niemann-pick disease type c, severe early infantile neurologic onset10.4
29niemann-pick disease type c, adult neurologic onset10.4
30graft versus host disease10.2
31coronary artery disease,10.2
32cholesterol ester storage disease10.2
33membranoproliferative glomerulonephritis10.2
34familial mediterranean fever10.2
35hepatitis c10.2
36biliary atresia10.2
37beta thalassemia10.2
38portal hypertension10.2
39priapism10.2
40endocardial fibroelastosis10.2
41syringocystadenoma papilliferum10.2
42clear cell chondrosarcoma10.2
43acute leukemia10.2
44bipolar disorder10.2
45spinal cord disease10.2
46thalassemia10.2
47thrombocytopenia10.2
48tuberculosis10.2
49acute myelomonocytic leukemia10.2
50congenital lobar emphysema10.2

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



Diseases related to niemann-pick disease

Clinical Features for Niemann-Pick Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

257220,257200,607625,607616

Clinical synopsis from OMIM:

257200

Drugs & Therapeutics for Niemann-Pick Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Niemann-Pick Disease:

33
Skin, Liver, Spinal cord, Brain, Lung, Spleen, Bone marrow, Cortex, Cerebellum, T cells, B lymphoblasts, B cells, Fetal brain, Thalamus, Dorsal root ganglion, Fetal liver, Fetal lung, Adrenal cortex

Animal Models for Niemann-Pick Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Niemann-Pick Disease

Sources:
51PubMed
See all sources

Articles related to Niemann-Pick Disease:

(show top 50)    (show all 604)
idTitleAuthorsYear
1
Electrodiagnostic testing and histopathologic changes confirm peripheral nervous system myelin abnormalities in the feline model of niemann-pick disease type C. (23399903)
2013
2
Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. (23142039)
2012
3
Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C. (22329857)
2012
4
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. (22619379)
2012
5
Niemann-Pick disease type C: analysis of 7 patients. (21633862)
2012
6
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. (22676771)
2012
7
Adult-onset pulmonary involvement in Niemann-Pick disease type B. (22462311)
2011
8
Decreased purinergic inhibition of synaptic activity in a mouse model of Niemann-Pick disease type C. (20082288)
2011
9
Education and imaging. Hepatobiliary and pancreatic: Niemann-Pick disease. (22097942)
2011
10
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat. (21344635)
2011
11
Niemann-Pick Disease Type C: from molecule to clinic. (19566836)
2010
12
Cholesterol in Niemann-Pick Type C disease. (20213549)
2010
13
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. (19124046)
2009
14
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. (19656703)
2009
15
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. (19267177)
2009
16
Recommendations on the diagnosis and management of Niemann-Pick disease type C. (19647672)
2009
17
Prenatal revelation of Niemann-Pick disease type C in siblings. (18554276)
2008
18
Chronic liver disease or tuberculosis: could it be Niemann-Pick disease? (19046704)
2008
19
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. (17603755)
2007
20
A very unusual presentation of Niemann-Pick disease type B in an infant: similar findings to congenital lobar emphysema. (16163596)
2005
21
AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. (16099409)
2005
22
Mutation analysis of feline Niemann-Pick C1 disease. (12809639)
2003
23
Metastatic hepatocellular carcinoma in a patient with niemann-pick disease, type C. (14581809)
2003
24
Membranoproliferative glomerulonephritis type II and Niemann-Pick disease type C. (12270993)
2002
25
Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. (12205649)
2002
26
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. (12369017)
2002
27
Hepatic storage of glycogen in Niemann-Pick disease type B. (11391349)
2001
28
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. (11001572)
1999
29
Niemann-Pick C disease: cholesterol handling gone awry. (9866822)
1998
30
Niemann-Pick disease type C presenting as neonatal hepatitis: report of one case. (7618476)
1995
31
Feline Niemann-Pick disease type C. (8203477)
1994
32
Sphingomyelinase enzyme assay in Niemann-Pick disease. (8262595)
1993
33
Filipin test for diagnosis of Niemann-Pick disease type C. (7992006)
1993
34
Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study. (1585241)
1992
35
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)
1991
36
Allogeneic bone marrow-plus-liver transplantation in the C57BL/KsJ spm/spm mouse, an animal model of Niemann-Pick disease. (2139261)
1990
37
Niemann-Pick disease types C and D. (2646522)
1989
38
Niemann-Pick disease in the Chinese. A report of four cases in three Chinese families. (2626275)
1989
39
Type C Niemann-Pick disease: dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblasts. (2688743)
1989
40
Diagnosis of Niemann-Pick disease type C on chorionic villus cells. (2565485)
1989
41
Pseudo-osteomyelitis in Niemann-Pick disease. (3402156)
1988
42
Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes. (3186703)
1988
43
Alterations in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease type C. (3126354)
1987
44
Brain stem auditory evoked potentials in two siblings with Niemann-Pick disease. (4061781)
1985
45
Immunological studies on lysosomal sphingomyelinase: identification of a 28 000-Da component deficient in urine from patients with Niemann-Pick disease types A and B. (6099155)
1984
46
Cor pulmonale in an adult secondary to Niemann-Pick disease. (6648875)
1983
47
Sphingomyelinosis, a new mutation in the mouse: a model of Niemann-Pick disease in humans. (7202025)
1982
48
Niemann-Pick disease (Crocker's group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrome. (5049680)
1972
49
A histochemical study of Gaucher's disease and Niemann-Pick's disease. (4166487)
1967
50
Niemann-Pick's disease. (18137802)
1949

Genetic Variations for Niemann-Pick Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Niemann-Pick Disease:

63 (show all 85)
id Symbol AA change Variation 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

Sources:
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

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
See all sources

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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience
See all sources

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

(show all 45)
idCompoundScoreTop Affiliating Genes
1tmao4510.4MAPT, SNCA
224s-hydroxy-cholesterol4510.4APP, ABCA1
3thioflavin4510.4APP, SNCA, MAPT
4thioflavine s4510.4MAPT, SNCA, APP
5u18666a4510.4APP, NPC1
6methionine sulfoxide45 11 2412.4APP, SNCA, ABCA1
7monensin4510.3SMPD1, ABCA1, M6PR
8sphingosine45 11 2412.3NPC2, PSAP, ASAH2, SMPD1
9dihydroceramide45 2411.3SMPD1, ASAH2, NPC2
10glycolipid4510.3NPC1, NPC2, PSAP, NAGA
11thioflavin t4510.3SNCA, APP
12formate4510.3MAPT, SNCA, APP
13tacrine45 1111.3MAPT, APP
14glucosylceramide45 2411.3NPC2, PSAP, CHIT1, ASAH2, SMPD1
15ceramide4510.3PSAP, ABCA1, ASAH2, SMPD1
16donepezil45 11 2412.2APP, MAPT
17ganglioside4510.2APP, NPC1, NPC2, PSAP, SMPD1
184-hydroxynonenal45 2411.2MAPT, SNCA, APP, LCAT
19sterol4510.2ABCA1, NPC1L1, NPC2, NPC1, LCAT
20sodium dodecylsulfate4510.2MAPT, SNCA, APP, LCAT
21lactacystin4510.2APP, SNCA, MAPT, ABCA1
22carbachol45 29 1112.2APP, SNCA, MAPT, HCRT
23valine4510.1MAPT, SNCA, PSAP, APP
24phosphatidylcholine4510.1LCAT, NPC1, SNCA, ABCA1, SMPD1
25phosphatidylserine45 29 1112.1PSAP, SNCA, MAPT, ABCA1
26mannose 6-phosphate45 2411.1M6PR, NPC1, PSAP, RAB9A, SMPD1
27methionine4510.1LCAT, SNCA, MAPT, ABCA1, SMPD1
28choline45 11 2412.1APP, PSAP, SNCA, MAPT, ABCA1
29memantine45 29 1112.0MAPT, APP
30fatty acid4510.0LCAT, APOD, SNCA, ABCA1, ASAH2
31phospholipid4510.0LCAT, APOD, PSAP, SNCA, ABCA1, SMPD1
32alpha tocopherol4510.0LCAT, SNCA, ABCA1
33acetylcholine45 50 29 11 2413.9HCRT, MAPT, SNCA, APP
34atp45 2910.8NPC1, NPC1L1, PSAP, HCRT, NAGA, ABCA1
35arginine459.8M6PR, APP, PSAP, SNCA, MAPT, SMPD1
36glutamate459.8LCAT, APP, SNCA, MAPT, HCRT, ABCA1
37alanine459.7LCAT, CCL18, APP, SNCA, MAPT, HCRT
38glucose459.6APOD, PSAP, SNCA, MAPT, HCRT, NAGA
39testosterone45 60 11 2412.6LCAT, APP, APOD, PSAP, SNCA, MAPT
40cysteine459.6M6PR, LCAT, APP, NPC1, PSAP, SNCA
41dexamethasone45 50 29 1112.6ABCA1, HCRT, APP, CCL18, LCAT
42serine459.5M6PR, LCAT, APP, PSAP, SNCA, MAPT
43oligonucleotide459.5APOD, PSAP, HCRT, ABCA1, SMPD1
44cholesterol45 29 11 2411.9M6PR, SMPD1, RAB9A, ABCA1, HCRT, SNCA
45lipid458.6M6PR, LCAT, SMPD1, ASAH2, RAB9A, ABCA1

GO Terms for genes affiliated with Niemann-Pick Disease

Sources:
16Gene Ontology
See all sources

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

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

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:03418610.2LCAT, ABCA1
2apolipoprotein bindingGO:03418510.1ABCA1, MAPT
3cholesterol bindingGO:01548510.0APOD, NPC1, NPC2, ABCA1
4hedgehog receptor activityGO:0081589.9NPC1, NPC1L1
5protein bindingGO:0055158.2LCAT, CCL18, APP, APOD, NPB, RAB9A

Products for genes affiliated with Niemann-Pick Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Niemann-Pick Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet