NPD
MCID: NMN002
MIFTS: 80

Niemann-Pick Disease (NPD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic diseases, Immune diseases categories
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Summaries for Niemann-Pick Disease

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NIH Rare Diseases:42 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. niemann-pick disease type a appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. due to the involvement of the nervous system, niemann-pick disease type a is also known as the neurological type. there is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. niemann-pick disease type a is caused by mutations in the smpd1 gene. it is inherited in an autosomal recessive pattern.  last updated: 4/17/2014

MalaCards based summary: Niemann-Pick Disease, also known as niemann-pick disease, type a, is related to acid sphingomyelinase deficiency and niemann-pick disease type c1, and has symptoms including 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 Distribution to the intracellular membrane compartments normal and CF and Lysosome. The compounds SM(d18:1/20:0) and SM(d18:0/22:1(13Z)) have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow, and related mouse phenotypes are respiratory system and behavior/neurological.

Genetics Home Reference:21 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.

NINDS:43 Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases.

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

GeneReviews summary for npc

Aliases & Classifications for Niemann-Pick Disease

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 10DISEASES, 48Orphanet, 62UMLS, 19GeneReviews, 9diseasecard, 20GeneTests, 22GTR, 46OMIM, 65Wikipedia, 44Novoseek, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Niemann-Pick Disease, Aliases & Descriptions:

Name: Niemann-Pick Disease 30 8 42 21 43 10
Niemann-Pick Disease, Type a 9 20 22 46 62
Niemann-Pick Disease, Type B 9 46 62
Niemann-Pick Disease Type B 8 42 48
Niemann Pick Disease Type B 42 20 22
Sphingomyelin Lipidosis 8 42 21
Lipoid Histiocytosis 8 21 62
Niemann-Pick Disease with Cholesterol Esterification Block 8 62
Sphingomyelinase Deficiency Disease 8 62
Sphingomyelin/cholesterol Lipidosis 21 62
Classical Niemann-Pick Disease 21 62
Neuronal Cholesterol Lipidosis 21 62
Niemann-Pick Disease Type C 8 19
Niemann-Pick Disease Type a 8 48
 
Sphingomyelinase Deficiency 42 21
Niemann-Pick Diseases 44 62
Niemann-Pick Disease, Subacute Juvenile Form 8
Ophthalmoplegia, Supraoptic Vertical 21
Juvenile Niemann-Pick Disease 19
Niemann-Pick Disease, Type C 62
Niemann-Picks Disease Type B 44
Niemann-Pick Disease, Type E 62
Type a Niemann-Pick Disease 8
Niemann-Pick Disease Type E 48
Niemann–pick Disease 65
Daf Syndrome 21
Niemann-Pick 65
Npd 21


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


External Ids:

Disease Ontology8 DOID:14504
NCIt39 C61269
SNOMED-CT57 66751000, 58459009
MESH via Orphanet35 D052537, D052536
ICD10 via Orphanet26 E75.2
UMLS via Orphanet63 C0268243, C0268242, C0268248

Related Diseases for Niemann-Pick Disease

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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 100)
idRelated DiseaseScoreTop Affiliating Genes
1acid sphingomyelinase deficiency31.7SMPD1
2niemann-pick disease type c131.7NPC2, NPC1
3lysosomal storage disease30.4SMPD1, NPC1, CHIT1
4gaucher's disease30.0SMPD1, CHIT1
5dementia29.7NPC1, NPC2, CHIT1, HCRT
6alzheimer's disease29.4CHIT1, SMPD1, HCRT, NPC1
7pick's disease10.9
8niemann-pick disease type d10.8
9neuronitis10.7
10niemann-pick disease type c210.7
11hepatitis10.6
12histiocytosis10.6
13sea-blue histiocytosis10.6
14sea-blue histiocyte syndrome10.5
15cerebritis10.5
16splenomegaly10.5
17niemann-pick disease type c, juvenile neurologic onset10.5
18glycogen storage disease10.4
19hepatocellular carcinoma10.4
20liver disease10.4
21juvenile xanthogranuloma10.4
22osteomyelitis10.4
23sphingolipidosis10.4
24dysphagia10.4
25myoclonus10.4
26tremor10.4
27niemann-pick disease type c, severe perinatal form10.4
28niemann-pick disease type c, late infantile neurologic onset10.4
29niemann-pick disease type c, severe early infantile neurologic onset10.4
30niemann-pick disease type c, adult neurologic onset10.4
31cerebellar degeneration10.3
32ataxia10.3
33narcissistic personality disorder10.2
34bipolar disorder10.2
35brain injury10.2
36crohn's disease10.2
37cystic fibrosis10.2
38glomerulonephritis10.2
39graft versus host disease10.2
40hemangioma10.2
41hematopoietic stem cell transplantation10.2
42hypertension10.2
43leukemia10.2
44multiple sclerosis10.2
45schizophrenia10.2
46tay-sachs disease10.2
47thalassemia10.2
48thrombocytopenia10.2
49familial mediterranean fever10.2
50membranoproliferative glomerulonephritis10.2

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



Diseases related to niemann-pick disease

Symptoms for Niemann-Pick Disease

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Symptoms by clinical synopsis from OMIM:

257200

Clinical features from OMIM:

607625,607616,257200,257220

HPO human phenotypes related to Niemann-Pick Disease:

(show all 46)
id Description Frequency HPO Source Accession
1 cherry red spot of the macula typical (50%) HP:0010729
2 autosomal recessive inheritance HP:0000007
3 osteoporosis HP:0000939
4 xanthomatosis HP:0000991
5 intellectual disability HP:0001249
6 muscular hypotonia HP:0001252
7 spasticity HP:0001257
8 global developmental delay HP:0001263
9 hyporeflexia HP:0001265
10 muscle weakness HP:0001324
11 failure to thrive HP:0001508
12 protuberant abdomen HP:0001538
13 splenomegaly HP:0001744
14 microcytic anemia HP:0001935
15 sea-blue histiocytosis HP:0001982
16 vomiting HP:0002013
17 constipation HP:0002019
18 rigidity HP:0002063
19 recurrent respiratory infections HP:0002205
20 diffuse reticular or finely nodular infiltrations HP:0002207
21 hepatomegaly HP:0002240
22 athetosis HP:0002305
23 lymphadenopathy HP:0002716
24 infantile onset HP:0003593
25 foam cells with lamellar inclusion bodies HP:0003609
26 short stature HP:0004322
27 bone-marrow foam cells HP:0004333
28 prolonged neonatal jaundice HP:0006579
29 prolonged neonatal jaundice HP:0006579
30 feeding difficulties in infancy HP:0008872
31 autosomal recessive inheritance HP:0000007
32 abnormality of the macula HP:0001103
33 splenomegaly HP:0001744
34 sea-blue histiocytosis HP:0001982
35 dyspnea HP:0002094
36 hypertriglyceridemia HP:0002155
37 recurrent respiratory infections HP:0002205
38 diffuse reticular or finely nodular infiltrations HP:0002207
39 hepatomegaly HP:0002240
40 hyperbetalipoproteinemia HP:0003141
41 hypoalphalipoproteinemia HP:0003233
42 foam cells with lamellar inclusion bodies HP:0003609
43 juvenile onset HP:0003621
44 phenotypic variability HP:0003812
45 short stature HP:0004322
46 bone-marrow foam cells HP:0004333

Drugs & Therapeutics for Niemann-Pick Disease

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Drug clinical trials:

Search ClinicalTrials for Niemann-Pick Disease

Search NIH Clinical Center 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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Genetic tests related to Niemann-Pick Disease:

id Genetic test Affiliating Genes
1 Niemann-Pick Disease Type a20
2 Niemann-Pick Disease Type B20
3 Niemann-Pick Disease, Type a22
4 Niemann-Pick Disease, Type B22

Anatomical Context for Niemann-Pick Disease

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MalaCards organs/tissues related to Niemann-Pick Disease:

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

Animal Models for Niemann-Pick Disease or affiliated genes

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MGI Mouse Phenotypes related to Niemann-Pick Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6HCRT, SMPD1, NPC2, NPC1
2MP:00053868.6NPC1, SMPD1, HCRT, NPC2
3MP:00053708.5SMPD1, NPC2, NPC1, NPC1L1
4MP:00053787.8NPC1L1, NPC1, NPC2, SMPD1, HCRT
5MP:00053767.6SMPD1, NPC1L1, NPC1, NPC2, HCRT

Publications for Niemann-Pick Disease

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Articles related to Niemann-Pick Disease:

(show top 50)    (show all 522)
idTitleAuthorsYear
1
Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C. (24839095)
2014
2
Excessive microglial activation aggravates olfactory dysfunction by impeding the survival of newborn neurons in the olfactory bulb of Niemann-Pick disease type C1 mice. (25132229)
2014
3
The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear. (24001525)
2013
4
Altered transition metal homeostasis in Niemann-Pick disease, type C1. (24343124)
2013
5
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. (22718274)
2013
6
Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series. (23143717)
2013
7
Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C. (23183285)
2012
8
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. (22326530)
2012
9
Plasma cell myeloma with intracytoplasmic crystalloid inclusions, mimicking a Niemann-Pick disease. (22591329)
2012
10
Niemann-Pick disease type A presenting as unilateral tremors. (23255701)
2012
11
Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C. (21984891)
2011
12
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. (20056559)
2010
13
Response: Sample size and statistical comparisons of GVHD rates in pediatric Niemann-Pick disease patients. (20075176)
2010
14
A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. (19411774)
2009
15
A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease. (19050888)
2009
16
Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. (18937049)
2008
17
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. (17876723)
2007
18
Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate. (16211396)
2006
19
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)
2006
20
Bipolar disorder and Niemann-Pick disease type C. (15863815)
2005
21
Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. (15702402)
2005
22
Comparative effects of recombinant acid sphingomyelinase administration by different routes in niemann-pick disease mice. (15516789)
2004
23
Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C. (12841368)
2003
24
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. (14681755)
2003
25
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. (11001572)
1999
26
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. (9634529)
1998
27
Accumulation of cholesterol and GM2 ganglioside in cells cultured in the presence of progesterone: an implication for the basic defect in Niemann-Pick disease type C. (9533562)
1998
28
GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. (9255392)
1997
29
Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C. (9245994)
1997
30
Deficient ferritin immunoreactivity in visceral organs from four patients with Niemann-Pick disease type C. (7582867)
1995
31
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. (7670466)
1995
32
Neurofibrillary tangles in Niemann-Pick disease type C. (7754743)
1995
33
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. (7762557)
1995
34
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)
1995
35
Niemann-Pick disease type C presenting as neonatal hepatitis: report of one case. (7618476)
1995
36
Specific skin lesions in a patient with Niemann-Pick disease. (7857847)
1994
37
Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin. (8060425)
1994
38
Sphingomyelinase enzyme assay in Niemann-Pick disease. (8262595)
1993
39
Type C Niemann-Pick disease in a boxer dog. (8460536)
1993
40
Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. (7688422)
1993
41
Prenatal diagnosis of Niemann-Pick disease type C. (1499136)
1992
42
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
43
Niemann-Pick disease types C and D. (2646522)
1989
44
Niemann-Pick disease in the Chinese. A report of four cases in three Chinese families. (2626275)
1989
45
Clinical improvement with DMSO treatment in a patient with Niemann-Pick disease (type C). (3150242)
1988
46
Biochemical and ultrastructural studies on an Epstein-Barr virus-transformed lymphoid cell line from a Niemann-Pick disease type C patient. (3015220)
1986
47
Niemann-Pick disease type C. Skin biopsies in parents. (3014367)
1986
48
Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C). (6520612)
1984
49
Liver findings in Niemann-Pick disease type C. (6150908)
1984
50
Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases. (6626569)
1983

Variations for Niemann-Pick Disease

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

64 (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

Clinvar genetic disease variations for Niemann-Pick Disease:

6 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1SMPD1NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs120074117GRCh37Chr 11, 6415434: 6415434
2SMPD1NM_000543.4(SMPD1): c.1828_1830delCGC (p.Arg610del)deletionPathogenicrs120074118GRCh37Chr 11, 6415769: 6415771
3SMPD1NM_000543.4(SMPD1): c.1735G> A (p.Gly579Ser)single nucleotide variantPathogenicrs120074119GRCh37Chr 11, 6415676: 6415676
4SMPD1NM_000543.4(SMPD1): c.1314C> A (p.Ser438Arg)single nucleotide variantPathogenicrs267607073GRCh37Chr 11, 6414897: 6414897
5SMPD1NM_000543.4(SMPD1): c.788T> A (p.Leu263Ter)single nucleotide variantPathogenicrs120074120GRCh37Chr 11, 6413083: 6413083
6SMPD1SMPD1, 2-BP DEL, LEU178FSdeletionPathogenic
7SMPD1NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile)single nucleotide variantPathogenicrs120074121GRCh37Chr 11, 6414506: 6414506
8SMPD1NM_000543.4(SMPD1): c.730G> A (p.Gly244Arg)single nucleotide variantPathogenicrs120074122GRCh37Chr 11, 6413025: 6413025
9SMPD1NM_000543.4(SMPD1): c.1154A> G (p.Asn385Ser)single nucleotide variantPathogenicrs120074123GRCh37Chr 11, 6414508: 6414508
10SMPD1NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro)single nucleotide variantPathogenicrs120074124GRCh37Chr 11, 6413206: 6413206
11SMPD1NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs)deletionPathogenicrs387906289GRCh37Chr 11, 6413291: 6413291
12SMPD1NM_000543.4(SMPD1): c.1267C> T (p.His423Tyr)single nucleotide variantPathogenicrs120074126GRCh37Chr 11, 6414850: 6414850
13SMPD1NM_000543.4(SMPD1): c.1327C> T (p.Arg443Ter)single nucleotide variantPathogenicrs120074127GRCh37Chr 11, 6414910: 6414910
14SMPD1NM_000543.4(SMPD1): c.880C> A (p.Gln294Lys)single nucleotide variantPathogenicrs120074128GRCh37Chr 11, 6413175: 6413175
15SMPD1NM_000543.4(SMPD1): c.1451C> A (p.Ala484Glu)single nucleotide variantPathogenicrs267607075GRCh37Chr 11, 6415236: 6415236
16SMPD1NM_000543.4(SMPD1): c.1406A> C (p.Tyr469Ser)single nucleotide variantPathogenicrs267607074GRCh37Chr 11, 6415191: 6415191

Expression for genes affiliated with Niemann-Pick Disease

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5NPC1, NPC2
29.1NPC1, NPC2, SMPD1

Compounds for genes affiliated with Niemann-Pick Disease

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Sources:
24HMDB, 44Novoseek, 28IUPHAR, 11DrugBank
See all sources

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

(show top 50)    (show all 157)
idCompoundScoreTop Affiliating Genes
1SM(d18:1/20:0)2410.0SMPD1, NPC2
2SM(d18:0/22:1(13Z))2410.0NPC2, SMPD1
3SM(d18:1/18:1(9Z))2410.0SMPD1, NPC2
4SM(d18:0/22:0)2410.0SMPD1, NPC2
5SM(d18:1/22:0)2410.0NPC2, SMPD1
6SM(d18:1/22:1(13Z))2410.0NPC2, SMPD1
7SM(d18:0/20:0)2410.0SMPD1, NPC2
8SM(d18:0/18:1(9Z))2410.0SMPD1, NPC2
9SM(d18:1/18:1(11Z))2410.0SMPD1, NPC2
10SM(d18:1/14:0)2410.0NPC2, SMPD1
11SM(d18:1/12:0)2410.0SMPD1, NPC2
12SM(d18:0/24:1(15Z))2410.0SMPD1, NPC2
13SM(d18:1/24:0)2410.0SMPD1, NPC2
14SM(d18:0/24:0)2410.0SMPD1, NPC2
15SM(d18:0/23:0)2410.0SMPD1, NPC2
16SM(d19:1/24:1(15Z))2410.0SMPD1, NPC2
17SM(d18:0/12:0)2410.0SMPD1, NPC2
18SM(d17:1/24:1(15Z))2410.0SMPD1, NPC2
19SM(d17:1/24:0)2410.0SMPD1, NPC2
20SM(d16:1/24:1(15Z))2410.0SMPD1, NPC2
21SM(d18:1/26:0)2410.0NPC2, SMPD1
22SM(d18:0/14:0)2410.0NPC2, SMPD1
23SM(d18:1/24:1(15Z))2410.0SMPD1, NPC2
24SM(d18:0/18:1(11Z))2410.0SMPD1, NPC2
25SM(d18:0/18:0)249.9SMPD1, NPC2
26SM(d18:1/23:0)249.9NPC2, SMPD1
27SM(d18:1/18:0)249.9NPC2, SMPD1
28SM(d18:1/16:0)249.9SMPD1, NPC2
29SM(d18:0/26:1(17Z))249.9SMPD1, NPC2
30SM(d18:0/20:2(11Z,14Z))249.9NPC2, SMPD1
31SM(d18:0/16:1(9Z))249.9SMPD1, NPC2
32SM(d18:0/16:1(9Z)(OH))249.9SMPD1, NPC2
33SM(d18:0/16:0)249.9SMPD1, NPC2
34SM(d18:0/14:1(9Z)(OH))249.9SMPD1, NPC2
35SM(d18:0/22:1(13Z)(OH))249.8NPC2, SMPD1
36SM(d18:0/24:1(15Z)(OH))249.8SMPD1, NPC2
37SM(d18:0/22:3(10Z,13Z,16Z))249.8SMPD1, NPC2
38SM(d18:0/22:2(13Z,16Z)(OH))249.8SMPD1, NPC2
39Tetrahexosylceramide (d18:1/24:0)249.7NPC2, SMPD1
40Tetrahexosylceramide (d18:1/22:0)249.7SMPD1, NPC2
41Tetrahexosylceramide (d18:1/20:0)249.6SMPD1, NPC2
42Mannosyl-inositol-phosphorylceramide249.6NPC2, SMPD1
43ganglioside449.5SMPD1, NPC1, NPC2
44Tetrahexosylceramide (d18:1/18:0)249.5SMPD1, NPC2
45sterol449.3NPC2, NPC1, NPC1L1
46Mannosyl-diinositol-phosphorylceramide249.3NPC2, SMPD1
47glucosylceramide44 2410.2SMPD1, CHIT1, NPC2
48atp44 289.8HCRT, SMPD1, NPC1, NPC1L1
49cholesterol44 28 24 1111.4HCRT, SMPD1, NPC2, NPC1, NPC1L1
50lipid447.6NPC1L1, NPC1, NPC2, CHIT1, SMPD1, HCRT

GO Terms for genes affiliated with Niemann-Pick Disease

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057648.7NPC1, NPC2, CHIT1

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol effluxGO:0333449.5NPC2, NPC1
2cholesterol metabolic processGO:0082039.5NPC2, NPC1
3cholesterol homeostasisGO:0426329.2NPC1, NPC2
4cholesterol transportGO:0303018.9NPC1L1, NPC1, NPC2
5response to drugGO:0424938.8SMPD1, NPC1L1, NPC1

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:0154859.5NPC1, NPC2
2hedgehog receptor activityGO:0081589.0NPC1L1, NPC1

Products for genes affiliated with Niemann-Pick Disease

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet