MCID: NMN002
MIFTS: 72

Niemann-Pick Disease malady

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

Summaries for Niemann-Pick Disease

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NIH Rare Diseases:43 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 sphingomyelin/cholesterol lipidosis, 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(d18:1/20:0) 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.

NINDS:44 Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases.

Genetics Home Reference:23 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

Aliases & Classifications for Niemann-Pick Disease

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 65Wikipedia, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 44NINDS, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Niemann-Pick Disease, Aliases & Descriptions:

Name: Niemann-Pick Disease 32 10 65 43 23 44 12
Sphingomyelin/cholesterol Lipidosis 23 24 62
Niemann-Pick Disease Type B 10 43 49
Sphingomyelin Lipidosis 10 43 23
Niemann-Pick Disease with Cholesterol Esterification Block 10 62
Sphingomyelinase Deficiency Disease 10 62
Neuronal Cholesterol Lipidosis 23 62
Niemann-Pick Disease Type C 10 21
Type a Niemann-Pick Disease 10 22
Niemann-Pick Disease Type a 10 49
Sphingomyelinase Deficiency 43 23
Niemann Pick Disease Type B 43 22
Niemann-Pick Diseases 45 62
 
Lipoid Histiocytosis 10 62
Niemann-Pick Disease, Subacute Juvenile Form 10
Classical Niemann-Pick Disease 62
Juvenile Niemann-Pick Disease 21
Niemann-Picks Disease Type B 45
Niemann-Pick Disease, Type a 62
Niemann-Pick Disease, Type B 62
Niemann-Pick Disease, Type C 62
Niemann-Pick Disease, Type E 62
Lipid Histiocytosis 23
Neuronal Lipidosis 23
Niemann-Pick 65
Npd 23


Classifications:



Characteristics (Orphanet epidemiological data):

49
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 Ontology10 DOID:14504
NCIt40 C61269
Orphanet49 77293, 77292
SNOMED-CT57 66751000, 58459009
MESH via Orphanet36 D052537, D052536
ICD10 via Orphanet28 E75.2
UMLS via Orphanet63 C0268243, C0268242

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/GeneDecks gene sharing:

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease, type c131.6NPC2, NPC1
2acid sphingomyelinase deficiency31.4SMPD1
3lysosomal storage disease30.7NPC1, CHIT1, SMPD1
4gaucher's disease30.3SMPD1, CHIT1
5dementia30.2HCRT, CHIT1, NPC2, NPC1
6alzheimer disease30.2HCRT, SMPD1, CHIT1, 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
14liver disease10.5
15cerebritis10.5
16splenomegaly10.5
17niemann-pick disease type c, juvenile neurologic onset10.5
18hepatocellular carcinoma10.4
19glycogen storage disease10.4
20juvenile xanthogranuloma10.4
21osteomyelitis10.4
22sphingolipidosis10.4
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
30niemann-pick disease type e10.4
31cerebellar degeneration10.3
32ataxia10.3
33narcissistic personality disorder10.2
34breast cancer10.2
35pulmonary function10.2
36cystic fibrosis10.2
37chondrosarcoma10.2
38meconium ileus10.2
39tay-sachs disease10.2
40coronary artery disease10.2
41bipolar disorder10.2
42brain injury10.2
43colorectal adenoma10.2
44crohn's disease10.2
45glomerulonephritis10.2
46hemangioma10.2
47hematopoietic stem cell transplantation10.2
48leukemia10.2
49thalassemia10.2
50thrombocytopenia10.2

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
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 a22
2 Niemann-Pick Disease Type B22
3 Sphingomyelin/cholesterol Lipidosis24

Anatomical Context for Niemann-Pick Disease

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MalaCards organs/tissues related to Niemann-Pick Disease:

33
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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6HCRT, SMPD1, NPC2, NPC1
2MP:00053868.6NPC1, NPC2, SMPD1, HCRT
3MP:00053708.5NPC1L1, NPC1, NPC2, SMPD1
4MP:00053787.8HCRT, SMPD1, NPC2, NPC1, NPC1L1
5MP:00053767.6HCRT, SMPD1, NPC2, NPC1, NPC1L1

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:

7 (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/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:
26HMDB, 45Novoseek, 30IUPHAR, 13DrugBank
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)2610.0SMPD1, NPC2
2SM(d18:0/22:1(13Z))2610.0NPC2, SMPD1
3SM(d18:1/18:1(9Z))2610.0SMPD1, NPC2
4SM(d18:0/22:0)2610.0SMPD1, NPC2
5SM(d18:1/22:0)2610.0NPC2, SMPD1
6SM(d18:1/22:1(13Z))2610.0NPC2, SMPD1
7SM(d18:0/20:0)2610.0SMPD1, NPC2
8SM(d18:0/18:1(9Z))2610.0SMPD1, NPC2
9SM(d18:1/18:1(11Z))2610.0SMPD1, NPC2
10SM(d18:1/14:0)2610.0NPC2, SMPD1
11SM(d18:1/12:0)2610.0SMPD1, NPC2
12SM(d18:0/24:1(15Z))2610.0SMPD1, NPC2
13SM(d18:1/24:0)2610.0SMPD1, NPC2
14SM(d18:0/24:0)2610.0SMPD1, NPC2
15SM(d18:0/23:0)2610.0SMPD1, NPC2
16SM(d19:1/24:1(15Z))2610.0SMPD1, NPC2
17SM(d18:0/12:0)2610.0SMPD1, NPC2
18SM(d17:1/24:1(15Z))2610.0SMPD1, NPC2
19SM(d17:1/24:0)2610.0SMPD1, NPC2
20SM(d16:1/24:1(15Z))2610.0SMPD1, NPC2
21SM(d18:1/26:0)2610.0NPC2, SMPD1
22SM(d18:0/14:0)2610.0NPC2, SMPD1
23SM(d18:1/24:1(15Z))2610.0SMPD1, NPC2
24SM(d18:0/18:1(11Z))2610.0SMPD1, NPC2
25SM(d18:0/18:0)269.9SMPD1, NPC2
26SM(d18:1/23:0)269.9NPC2, SMPD1
27SM(d18:1/18:0)269.9NPC2, SMPD1
28SM(d18:1/16:0)269.9SMPD1, NPC2
29SM(d18:0/26:1(17Z))269.9SMPD1, NPC2
30SM(d18:0/20:2(11Z,14Z))269.9NPC2, SMPD1
31SM(d18:0/16:1(9Z))269.9SMPD1, NPC2
32SM(d18:0/16:1(9Z)(OH))269.9SMPD1, NPC2
33SM(d18:0/16:0)269.9SMPD1, NPC2
34SM(d18:0/14:1(9Z)(OH))269.9SMPD1, NPC2
35SM(d18:0/22:1(13Z)(OH))269.8NPC2, SMPD1
36SM(d18:0/24:1(15Z)(OH))269.8SMPD1, NPC2
37SM(d18:0/22:3(10Z,13Z,16Z))269.8SMPD1, NPC2
38SM(d18:0/22:2(13Z,16Z)(OH))269.8SMPD1, NPC2
39Tetrahexosylceramide (d18:1/26:1(17Z))269.7NPC2, SMPD1
40Tetrahexosylceramide (d18:1/26:0)269.7SMPD1, NPC2
41Tetrahexosylceramide (d18:1/25:0)269.6SMPD1, NPC2
42Mannosyl-inositol-phosphorylceramide269.6NPC2, SMPD1
43ganglioside459.5SMPD1, NPC1, NPC2
44Tetrahexosylceramide (d18:1/24:1(15Z))269.5SMPD1, NPC2
45sterol459.3NPC2, NPC1, NPC1L1
46Inositol-P-ceramide269.3NPC2, SMPD1
47glucosylceramide45 2610.2SMPD1, CHIT1, NPC2
48atp45 309.8HCRT, SMPD1, NPC1, NPC1L1
49cholesterol45 30 26 1311.4HCRT, SMPD1, NPC2, NPC1, NPC1L1
50lipid457.6NPC1L1, 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:00057648.7NPC1, NPC2, CHIT1

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

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

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

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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet