MCID: NMN002
MIFTS: 63

Niemann-Pick Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic diseases categories

Aliases & Classifications for Niemann-Pick Disease

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Sources:
30LifeMap Discovery®, 9Disease Ontology, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 38NCIt, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Niemann-Pick Disease, Aliases & Descriptions:

Name: Niemann-Pick Disease 30 9 63 41 21 42 11
Sphingomyelinase Deficiency 41 21 60
Niemann-Pick Disease Type B 9 41 47
Sphingomyelin Lipidosis 9 41 21
Sphingomyelin/cholesterol Lipidosis 21 22
Niemann-Pick Disease Type C 9 19
Niemann Pick Disease Type B 41 20
Niemann-Pick Disease Type a 9 47
Type a Niemann-Pick Disease 9 20
Niemann-Pick Diseases 43 60
Lipoid Histiocytosis 9 60
Niemann-Pick Disease with Cholesterol Esterification Block 9
 
Niemann-Pick Disease, Subacute Juvenile Form 9
Sphingomyelinase Deficiency Disease 9
Neuronal Cholesterol Lipidosis 21
Juvenile Niemann-Pick Disease 19
Niemann-Pick Disease, Type B 60
Niemann-Picks Disease Type B 43
Niemann-Pick Disease, Type C 60
Niemann-Pick Disease, Type a 60
Lipid Histiocytosis 21
Neuronal Lipidosis 21
Niemann-Pick 63
Npd 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
niemann-pick disease type b:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: young Adult
niemann-pick disease type a:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

Disease Ontology9 DOID:14504
NCIt38 C61269
Orphanet47 77293, 77292
SNOMED-CT55 66751000, 58459009
MESH via Orphanet34 D052537, D052536
ICD10 via Orphanet26 E75.2
UMLS via Orphanet61 C0268243, C0268242

Summaries for Niemann-Pick Disease

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NIH Rare Diseases:41 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 sphingomyelinase deficiency, is related to niemann-pick disease, type c1 and acid sphingomyelinase deficiency. 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(d18:0/22:0) and SM(d18:1/20:0) 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.

NINDS:42 Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases.

Genetics Home Reference:21 Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.

GeneReviews summary for npc

Related Diseases for Niemann-Pick Disease

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Diseases in the Niemann-Pick Disease family:

Niemann-Pick Disease, Type a Niemann-Pick Disease, Type C2
Niemann-Pick Disease, Type C1 Niemann-Pick Disease, Type B
Niemann-Pick Disease Type E

Diseases related to Niemann-Pick Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease, type c131.8NPC2, NPC1
2acid sphingomyelinase deficiency31.7SMPD1
3lysosomal storage disease30.4SMPD1, NPC1, CHIT1
4gaucher's disease29.9SMPD1, CHIT1
5dementia29.7NPC1, NPC2, CHIT1, HCRT
6alzheimer disease29.4CHIT1, SMPD1, HCRT, NPC1
7pick disease11.6
8niemann-pick disease, type b11.1
9niemann-pick disease, type a11.0
10niemann-pick disease, type c210.8
11neuronitis10.8
12hepatitis10.6
13histiocytosis10.6
14niemann-pick disease type c, juvenile neurologic onset10.5
15niemann-pick disease type e10.5
16liver disease10.5
17cerebritis10.5
18splenomegaly10.5
19niemann-pick disease type c, severe perinatal form10.5
20niemann-pick disease type c, late infantile neurologic onset10.5
21niemann-pick disease type c, severe early infantile neurologic onset10.5
22niemann-pick disease type c, adult neurologic onset10.5
23hepatocellular carcinoma10.4
24glycogen storage disease10.4
25juvenile xanthogranuloma10.4
26osteomyelitis10.4
27sphingolipidosis10.4
28dysphagia10.4
29myoclonus10.4
30tremor10.4
31cerebellar degeneration10.3
32ataxia10.3
33narcissistic personality disorder10.2
34colorectal cancer10.2
35breast cancer10.2
36pulmonary function10.2
37cystic fibrosis10.2
38chondrosarcoma10.2
39meconium ileus10.2
40tay-sachs disease10.2
41coronary artery disease10.2
42bipolar disorder10.2
43brain injury10.2
44crohn's disease10.2
45glomerulonephritis10.2
46hemangioma10.2
47hematopoietic stem cell transplantation10.2
48leukemia10.2
49pulmonary fibrosis10.2
50thalassemia10.2

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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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
Data from LifeMap, the Embryonic Development and Stem Cells Database
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 Sphingomyelin/cholesterol Lipidosis22

Anatomical Context for Niemann-Pick Disease

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MalaCards organs/tissues related to Niemann-Pick Disease:

31
Bone, Liver, Bone marrow, Brain, Lung, Spleen, Skin, Testes, Eye, Thalamus, Cortex, Cerebellum, Spinal cord, Adipocyte, Breast, 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:

35
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 542)
idTitleAuthorsYear
1
Altered Clathrin-Independent Endocytosis in Type A Niemann-Pick Disease Cells and Rescue by ICAM-1-Targeted Enzyme Delivery. (25849869)
2015
2
Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C. (24839095)
2014
3
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
4
The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear. (24001525)
2013
5
Altered transition metal homeostasis in Niemann-Pick disease, type C1. (24343124)
2013
6
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. (22718274)
2013
7
Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series. (23143717)
2013
8
Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C. (23183285)
2012
9
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C. (22326530)
2012
10
Plasma cell myeloma with intracytoplasmic crystalloid inclusions, mimicking a Niemann-Pick disease. (22591329)
2012
11
Niemann-Pick disease type A presenting as unilateral tremors. (23255701)
2012
12
Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C. (21984891)
2011
13
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. (20056559)
2010
14
Response: Sample size and statistical comparisons of GVHD rates in pediatric Niemann-Pick disease patients. (20075176)
2010
15
A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. (19411774)
2009
16
A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease. (19050888)
2009
17
Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. (18937049)
2008
18
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. (17876723)
2007
19
Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate. (16211396)
2006
20
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)
2006
21
Bipolar disorder and Niemann-Pick disease type C. (15863815)
2005
22
Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. (15702402)
2005
23
Comparative effects of recombinant acid sphingomyelinase administration by different routes in niemann-pick disease mice. (15516789)
2004
24
Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C. (12841368)
2003
25
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
26
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. (11001572)
1999
27
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. (9634529)
1998
28
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
29
GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. (9255392)
1997
30
Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C. (9245994)
1997
31
Deficient ferritin immunoreactivity in visceral organs from four patients with Niemann-Pick disease type C. (7582867)
1995
32
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. (7670466)
1995
33
Neurofibrillary tangles in Niemann-Pick disease type C. (7754743)
1995
34
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. (7762557)
1995
35
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)
1995
36
Niemann-Pick disease type C presenting as neonatal hepatitis: report of one case. (7618476)
1995
37
Specific skin lesions in a patient with Niemann-Pick disease. (7857847)
1994
38
Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin. (8060425)
1994
39
Sphingomyelinase enzyme assay in Niemann-Pick disease. (8262595)
1993
40
Type C Niemann-Pick disease in a boxer dog. (8460536)
1993
41
Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. (7688422)
1993
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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Clinvar genetic disease variations for Niemann-Pick Disease:

6 (show all 16)
id Gene Variation 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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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 Suite gene sharing:

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, 43Novoseek, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Niemann-Pick Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 157)
idCompoundScoreTop Affiliating Genes
1SM(d18:0/22:0)2410.0NPC2, SMPD1
2SM(d18:1/20:0)2410.0NPC2, SMPD1
3SM(d18:1/18:1(9Z))2410.0SMPD1, NPC2
4SM(d18:0/22:1(13Z))2410.0NPC2, SMPD1
5SM(d18:1/22:0)2410.0NPC2, SMPD1
6SM(d18:0/20:0)2410.0SMPD1, NPC2
7SM(d18:0/18:1(9Z))2410.0SMPD1, NPC2
8SM(d18:0/18:1(11Z))2410.0SMPD1, NPC2
9SM(d18:1/12:0)2410.0NPC2, SMPD1
10SM(d18:1/14:0)2410.0NPC2, SMPD1
11SM(d18:0/24:1(15Z))2410.0SMPD1, NPC2
12SM(d18:1/23:0)2410.0SMPD1, NPC2
13SM(d18:0/24:0)2410.0SMPD1, NPC2
14SM(d18:0/23:0)2410.0SMPD1, NPC2
15SM(d18:1/18:1(11Z))2410.0NPC2, SMPD1
16SM(d18:0/18:0)2410.0SMPD1, NPC2
17SM(d17:1/24:1(15Z))2410.0SMPD1, NPC2
18SM(d17:1/24:0)2410.0SMPD1, NPC2
19SM(d16:1/24:1(15Z))2410.0SMPD1, NPC2
20SM(d18:1/24:1(15Z))2410.0NPC2, SMPD1
21SM(d18:1/26:0)2410.0NPC2, SMPD1
22SM(d19:1/24:1(15Z))2410.0NPC2, SMPD1
23SM(d18:0/12:0)2410.0NPC2, SMPD1
24SM(d18:1/22:1(13Z))2410.0NPC2, SMPD1
25SM(d18:1/24:0)249.9NPC2, SMPD1
26SM(d18:0/14:0)249.9SMPD1, NPC2
27SM(d18:1/18:0)249.9NPC2, SMPD1
28SM(d18:1/16:0)249.9NPC2, SMPD1
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 (d18:1/20:0)249.7NPC2, SMPD1
40Tetrahexosylceramide (d18:1/18:0)249.7SMPD1, NPC2
41Tetrahexosylceramide (d18:1/16:0)249.6SMPD1, NPC2
42Mannosyl-inositol-phosphorylceramide249.6NPC2, SMPD1
43ganglioside439.5SMPD1, NPC1, NPC2
44Lactosyceramide (d18:1/18:1(9Z))249.5NPC2, SMPD1
45sterol439.3NPC2, NPC1, NPC1L1
46Mannosyl-diinositol-phosphorylceramide249.3NPC2, SMPD1
47glucosylceramide43 2410.2SMPD1, CHIT1, NPC2
48atp43 289.8HCRT, SMPD1, NPC1, NPC1L1
49cholesterol43 28 24 1211.4HCRT, SMPD1, NPC2, NPC1, NPC1L1
50lipid437.6NPC1L1, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057648.7NPC1, NPC2, CHIT1

Biological processes related to Niemann-Pick Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cholesterol effluxGO:00333449.5NPC2, NPC1
2cholesterol metabolic processGO:00082039.5NPC2, NPC1
3cholesterol homeostasisGO:00426329.2NPC1, NPC2
4cholesterol transportGO:00303018.9NPC1L1, NPC1, NPC2
5response to drugGO:00424938.8SMPD1, NPC1L1, NPC1

Molecular functions related to Niemann-Pick Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:00154859.5NPC1, NPC2
2hedgehog receptor activityGO:00081589.0NPC1L1, NPC1

Products for genes affiliated with Niemann-Pick Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Niemann-Pick Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet