MCID: NMN002
MIFTS: 60

Niemann-Pick Disease

Categories: Rare diseases, Metabolic diseases, Immune diseases, Neuronal diseases, Genetic diseases, Eye diseases, Respiratory diseases

Aliases & Classifications for Niemann-Pick Disease

MalaCards integrated aliases for Niemann-Pick Disease:

Name: Niemann-Pick Disease 38 12 76 53 25 54 15
Sphingomyelin/cholesterol Lipidosis 25 29 6
Niemann-Pick Diseases 55 44 73
Sphingomyelin Lipidosis 12 25
Lipoid Histiocytosis 12 73
Sphingomyelinase Deficiency Disease 12
Neuronal Cholesterol Lipidosis 25
Niemann-Pick Disease, Type a 73
Sphingomyelinase Deficiency 25
Lipid Histiocytosis 25
Neuronal Lipidosis 25
Npd 25

Classifications:



External Ids:

Disease Ontology 12 DOID:14504
ICD10 33 E75.249
MeSH 44 D009542
NCIt 50 C61269

Summaries for Niemann-Pick Disease

NINDS : 54 Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases.  Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body.  In Niemann-Pick disease, harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow. Neurological symptoms may include ataxia (lack of muscle control during voluntary movements such as walking), loss of muscle tone, brain degeneration,  increased sensitivity to touch, spasticity (stiff muscles and awkward movement), and slurred speech. Other symptoms may include feeding and swallowing difficulties, eye paralysis, learning problems, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has three categories.  Type A, the most severe form, begins in early infancy and occurs most often in Jewish families. Additonal symptoms include weakness, an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age. Children with this type rarely live beyond 18 months.  Type B (called juvenile onset) usually occurs in the pre-teen years, with symptoms that include ataxia and peripheral neuropathy. The brain is generally not affected. Other symptoms include enlarged liver and spleen, and pulmonary difficulties.  In types A and B, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body.  Type C may appear early in life or develop in the teen or adult years. It is caused by a lack of the NPC1 or NPC2 proteins.  Affected individuals may have extensive brain damage that can cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing.  There may be moderate enlargement of the spleen and liver.

MalaCards based summary : Niemann-Pick Disease, also known as sphingomyelin/cholesterol lipidosis, is related to niemann-pick disease, type c2 and niemann-pick disease, type a, and has symptoms including constipation, vomiting and muscle weakness. An important gene associated with Niemann-Pick Disease is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Miglustat and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

NIH Rare Diseases : 53 Niemann-Pick disease (NPD) is a group of inheritedmetabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen. Inheritance is autosomal recessive. Niemann-Pick disease is divided into four main types according to the altered (mutated) gene and the signs and symptoms:Type A, caused by mutations in the SMPD1 gene. It is the most severe form, occurs in early infancy and is seen primarily in Jewish families. Type B , caused by mutations in the SMPD1 gene. Usually occurs in children, and affects the liver, spleen and lungs (visceral form), but generally does not affect the brain. Type C1, caused by mutations in the NPC1 gene. May occur at any age and affect the brain and the viscera. Type C2, caused by homozygous mutation in the NPC2 gene. Similar to type C1, but more severe, and mostly affecting the lungs. Some classify type A and B as "acid sphingomyelinase (ASM) deficiency". NP type D is now considered as type C (when affected people are from Nova Scotia, Canada); other rarer types have being described.There is currently no effective treatment for type A. Bone marrow transplantation, enzyme replacement and gene therapies may be helpful for people with type B.  A medication called Miglustat has been shown to stabilize certain neurological symptoms in people with type C. Currently other treatments are under clinical investigation.

Genetics Home Reference : 25 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.

Disease Ontology : 12 A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.

Wikipedia : 76 Niemann–Pick disease (/niːmənˈpɪk/ nee-mən-PIK) is a group of inherited, severe metabolic disorders in... more...

Related Diseases for Niemann-Pick Disease

Diseases in the Niemann-Pick Disease family:

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

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type c2 34.9 ISCA2 NPC2
2 niemann-pick disease, type a 34.5 CHIT1 SMPD1 UGT8
3 niemann-pick disease type c, juvenile neurologic onset 34.5 NPC1 NPC2
4 niemann-pick disease type c, severe perinatal form 34.4 NPC1 NPC2
5 niemann-pick disease type c, late infantile neurologic onset 34.4 NPC1 NPC2
6 niemann-pick disease type c, severe early infantile neurologic onset 34.4 NPC1 NPC2
7 niemann-pick disease type c, adult neurologic onset 34.4 NPC1 NPC2
8 acid sphingomyelinase deficiency 33.7 NPC1 SMPD1
9 niemann-pick disease, type c1 33.2 APOD NPC1 NPC1L1 NPC2 PSAP SMPD1
10 sphingolipidosis 31.5 GBA NPC1 NPC2 PSAP SMPD1
11 chitotriosidase deficiency 30.4 CHIT1 GBA
12 gaucher's disease 30.3 CHIT1 GBA PSAP
13 dementia 29.4 GBA NPC1 NPC2
14 lysosomal storage disease 29.4 GBA M6PR SMPD1
15 niemann-pick disease, type b 13.0
16 sea-blue histiocyte disease 11.6
17 narcissistic personality disorder 10.9
18 neuronitis 10.5
19 multiple mitochondrial dysfunctions syndrome 4 10.5 ISCA2 NPC2
20 non-langerhans-cell histiocytosis 10.4 NPC1 NPC2 SMPD1
21 hepatitis 10.4
22 histiocytosis 10.4
23 aging 10.4
24 infantile liver failure syndrome 1 10.4
25 lymphatic system disease 10.3 NPC1 NPC2 SMPD1
26 multiple mitochondrial dysfunctions syndrome 10.3 ISCA2 NPC2
27 gaucher disease, type ii 10.2 GBA PSAP
28 gaucher disease, type iii 10.2 GBA PSAP
29 occupational dermatitis 10.2 GBA SMPD1
30 hepatocellular carcinoma 10.2
31 crohn's disease 10.2
32 liver disease 10.2
33 cerebritis 10.2
34 splenomegaly 10.2
35 glanders 10.2 PSAP TLR4
36 glycogen storage disease 10.1
37 hematopoietic stem cell transplantation 10.1
38 leukemia 10.1
39 osteomyelitis 10.1
40 pulmonary alveolar proteinosis 10.1
41 epilepsy 10.1
42 juvenile xanthogranuloma 10.1
43 lung disease 10.1
44 developmental coordination disorder 10.1
45 developmental dyspraxia 10.1
46 dysphagia 10.1
47 myoclonus 10.1
48 tremor 10.1
49 krabbe disease 10.1 CHIT1 PSAP
50 gaucher disease, type i 10.0 CHIT1 GBA PSAP

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



Diseases related to Niemann-Pick Disease

Symptoms & Phenotypes for Niemann-Pick Disease

UMLS symptoms related to Niemann-Pick Disease:


constipation, vomiting, muscle weakness

MGI Mouse Phenotypes related to Niemann-Pick Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 APOD GBA M6PR NEGR1 NPC1 NPC2
2 homeostasis/metabolism MP:0005376 10.11 APOD GBA M6PR NEGR1 NPC1 NPC1L1
3 growth/size/body region MP:0005378 10.1 GBA M6PR NEGR1 NPC1 NPC1L1 NPC2
4 cardiovascular system MP:0005385 9.98 APOD GBA NEGR1 NPC1 NPC2 PSAP
5 immune system MP:0005387 9.97 CHIT1 GBA NEGR1 NPC1 NPC2 PSAP
6 liver/biliary system MP:0005370 9.86 NEGR1 NPC1 NPC1L1 NPC2 PSAP SMPD1
7 mortality/aging MP:0010768 9.81 APOD GBA M6PR NPC1 NPC2 PSAP
8 nervous system MP:0003631 9.56 APOD GBA NPC2 PSAP SMPD1 TLR4
9 respiratory system MP:0005388 9.1 GBA NPC1 NPC2 PSAP SMPD1 TLR4

Drugs & Therapeutics for Niemann-Pick Disease

Drugs for Niemann-Pick Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 3,Phase 2,Phase 1 72599-27-0 51634
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
6
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
7 Prednisolone acetate Phase 2, Phase 3
8 Alkylating Agents Phase 2, Phase 3
9 Methylprednisolone acetate Phase 2, Phase 3
10 Methylprednisolone Hemisuccinate Phase 2, Phase 3
11 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
12 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
13 Immunosuppressive Agents Phase 2, Phase 3
14 Prednisolone hemisuccinate Phase 2, Phase 3
15 Prednisolone phosphate Phase 2, Phase 3
16 Anti-Infective Agents Phase 3,Phase 1,Phase 2
17 Anti-HIV Agents Phase 3,Phase 2,Phase 1
18 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
19 Antilymphocyte Serum Phase 2, Phase 3
20 Antirheumatic Agents Phase 2, Phase 3
21 Antiviral Agents Phase 3,Phase 1,Phase 2
22 Cardiac Glycosides Phase 3,Phase 2,Phase 1
23 Antineoplastic Agents, Alkylating Phase 2, Phase 3
24 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
25 Liver Extracts Phase 2, Phase 3,Phase 3
26
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
27
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
28
alemtuzumab Approved, Investigational Phase 2 216503-57-0
29
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
30 Respiratory System Agents Phase 1, Phase 2
31 Histone Deacetylase Inhibitors Phase 1, Phase 2
32 N-monoacetylcystine Phase 1, Phase 2
33 Expectorants Phase 1, Phase 2
34 Antidotes Phase 1, Phase 2
35 Antioxidants Phase 1, Phase 2
36 Protective Agents Phase 1, Phase 2
37 Lithium carbonate Phase 1, Phase 2 554-13-2
38 Central Nervous System Depressants Phase 1, Phase 2
39 Tranquilizing Agents Phase 1, Phase 2
40 Antidepressive Agents Phase 1, Phase 2
41 Psychotropic Drugs Phase 1, Phase 2
42 Antimanic Agents Phase 1, Phase 2
43 cysteine Nutraceutical Phase 1, Phase 2

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
4 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
5 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
6 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
7 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
8 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
9 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
10 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
11 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
12 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
13 Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
14 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
15 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
16 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
17 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
18 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
19 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
20 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
21 Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
22 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1 OGT918
23 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
24 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) Recruiting NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
25 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
26 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
27 Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
28 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
29 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
30 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030
31 PET Scan of Brain Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
32 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
33 Investigating Lysosomal Storage Diseases in Minority Groups Recruiting NCT02120235
34 Molecular and Cellular Mechanisms of Lysosomal Storage Diseases Recruiting NCT02000310
35 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
36 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
37 Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358 Not Applicable
38 Biomarker for Niemann Pick Type C Disease Terminated NCT01306604

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.

Cochrane evidence based reviews: niemann-pick diseases

Genetic Tests for Niemann-Pick Disease

Genetic tests related to Niemann-Pick Disease:

# Genetic test Affiliating Genes
1 Sphingomyelin/cholesterol Lipidosis 29

Anatomical Context for Niemann-Pick Disease

MalaCards organs/tissues related to Niemann-Pick Disease:

41
Liver, Bone, Brain, Bone Marrow, Lung, Spleen, Eye

Publications for Niemann-Pick Disease

Articles related to Niemann-Pick Disease:

(show top 50) (show all 667)
# Title Authors Year
1
The prognostic value of Niemann-Pick C1-like protein 1 and Niemann-Pick disease type C2 in hepatocellular carcinoma. ( 29483961 )
2018
2
Consensus clinical management guidelines for Niemann-Pick disease type C. ( 29625568 )
2018
3
First Prenatal Diagnosis of a Niemann-Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature. ( 29928259 )
2018
4
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report. ( 29536386 )
2018
5
<i>In Vivo</i> Assessment of Neurodegeneration in Type C Niemann-Pick Disease by IDEAL-IQ. ( 29354005 )
2018
6
Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 29390035 )
2018
7
Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1. ( 29246094 )
2018
8
LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss. ( 29346563 )
2018
9
Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model. ( 29357083 )
2018
10
Crohn's Disease in Niemann-Pick Disease Type C1: Caught in the Cross-Fire of Host-Microbial Interactions. ( 29411209 )
2018
11
Systematic review of psychiatric signs in Niemann-Pick disease type C. ( 29457916 )
2018
12
Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1. ( 29587349 )
2018
13
Niemann-Pick Disease, Type C1 Gene Expression in PBMCs is Associated with Interleukin 10 Serum Concentration: a Case-Control Study. ( 29479887 )
2018
14
Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention. ( 29617956 )
2018
15
Large pericardial effusion and tamponade in young male with Niemann-Pick disease type C. ( 29898264 )
2018
16
Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity. ( 29090525 )
2018
17
Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C. ( 29930807 )
2018
18
Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing. ( 29453517 )
2018
19
Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C. ( 29074317 )
2018
20
Niemann-Pick Disease Type C Associated with Fuchs Heterochromic Iridocyclitis. ( 29387679 )
2017
21
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. ( 29431164 )
2017
22
Interstitial Lung Disease Associated with Adult Niemann-Pick Disease Type B. ( 28601876 )
2017
23
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C. ( 28387450 )
2017
24
Niemann-Pick disease type C in the newborn period: a single-center experience. ( 28951965 )
2017
25
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult. ( 28421028 )
2017
26
2-hydroxypropyl-I^-cyclodextrins and the Blood-Brain Barrier: Considerations for Niemann-Pick Disease Type C1. ( 29065825 )
2017
27
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. ( 28328115 )
2017
28
Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member. ( 28808920 )
2017
29
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 28414792 )
2017
30
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): findings from the International NPC Registry. ( 28914127 )
2017
31
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. ( 28383485 )
2017
32
Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat. ( 28710748 )
2017
33
Corrigendum to &amp;quot;Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child&amp;quot;. ( 29085694 )
2017
34
Utility of rapid whole exome sequencing in the diagnosis of neonatal Niemann Pick disease type C presenting with fetal hydrops and liver failure. ( 28802248 )
2017
35
Abnormal dopamine transporter imaging in adult-onset Niemann-Pick disease type C. ( 28063684 )
2017
36
New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation. ( 28865947 )
2017
37
Generation of patient specific human neural stem cells from Niemann-Pick disease type C patient-derived fibroblasts. ( 29156730 )
2017
38
The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. ( 27940359 )
2017
39
Intrathecal 2-hydroxypropyl-I^-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. ( 28803710 )
2017
40
Neurometabolic disease: New drug slows Niemann-Pick disease. ( 28849784 )
2017
41
Corrigendum to &amp;quot;Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases&amp;quot; [Mol. Genet. Metab. 118 (2016) 206-213]. ( 29129654 )
2017
42
Analytical Characterization of Methyl-I^-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells. ( 28631941 )
2017
43
The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran. ( 28883878 )
2017
44
Patient with Niemann-Pick disease type C: over 20 years' follow-up. ( 28830896 )
2017
45
Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice. ( 28606376 )
2017
46
Cognition and anatomy of adult Niemann-Pick disease type C: Insights for the Alzheimer field. ( 28662611 )
2017
47
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C. ( 28092091 )
2017
48
Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease. ( 29249985 )
2017
49
Niemann-Pick disease type B: HRCT assessment of pulmonary involvement. ( 29340494 )
2017
50
Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T&amp;gt;C or the prevalent c.3182T&amp;gt;C mutation - Analysis of pluripotency and neuronal differentiation. ( 28413817 )
2017

Variations for Niemann-Pick Disease

ClinVar genetic disease variations for Niemann-Pick Disease:

6
(show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMPD1 NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs120074117 GRCh37 Chromosome 11, 6415434: 6415434
2 SMPD1 NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs120074117 GRCh38 Chromosome 11, 6394204: 6394204
3 SMPD1 NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro) single nucleotide variant Pathogenic rs120074124 GRCh37 Chromosome 11, 6413206: 6413206
4 SMPD1 NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro) single nucleotide variant Pathogenic rs120074124 GRCh38 Chromosome 11, 6391976: 6391976
5 SMPD1 NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs) deletion Pathogenic rs387906289 GRCh37 Chromosome 11, 6413291: 6413291
6 SMPD1 NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs) deletion Pathogenic rs387906289 GRCh38 Chromosome 11, 6392061: 6392061
7 SMPD1 NM_000543.4(SMPD1): c.1267C> T (p.His423Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs120074126 GRCh37 Chromosome 11, 6414850: 6414850
8 SMPD1 NM_000543.4(SMPD1): c.1267C> T (p.His423Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs120074126 GRCh38 Chromosome 11, 6393620: 6393620
9 SMPD1 NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp) single nucleotide variant Pathogenic/Likely pathogenic rs182812968 GRCh37 Chromosome 11, 6415211: 6415211
10 SMPD1 NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp) single nucleotide variant Pathogenic/Likely pathogenic rs182812968 GRCh38 Chromosome 11, 6393981: 6393981
11 SMPD1 NM_000543.4(SMPD1): c.559C> T (p.Pro187Ser) single nucleotide variant Benign/Likely benign rs74053349 GRCh37 Chromosome 11, 6412854: 6412854
12 SMPD1 NM_000543.4(SMPD1): c.559C> T (p.Pro187Ser) single nucleotide variant Benign/Likely benign rs74053349 GRCh38 Chromosome 11, 6391624: 6391624
13 SMPD1 NM_000543.4(SMPD1): c.887G> A (p.Arg296Gln) single nucleotide variant Benign/Likely benign rs35824453 GRCh37 Chromosome 11, 6413182: 6413182
14 SMPD1 NM_000543.4(SMPD1): c.887G> A (p.Arg296Gln) single nucleotide variant Benign/Likely benign rs35824453 GRCh38 Chromosome 11, 6391952: 6391952
15 SMPD1 NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del) deletion Pathogenic rs120074118 GRCh37 Chromosome 11, 6415770: 6415772
16 SMPD1 NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del) deletion Pathogenic rs120074118 GRCh38 Chromosome 11, 6394540: 6394542
17 SMPD1 NM_000543.4(SMPD1): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs797044797 GRCh38 Chromosome 11, 6391481: 6391481
18 SMPD1 NM_000543.4(SMPD1): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs797044797 GRCh37 Chromosome 11, 6412711: 6412711
19 SMPD1 NM_000543.4(SMPD1): c.592G> C (p.Ala198Pro) single nucleotide variant Pathogenic rs797044798 GRCh38 Chromosome 11, 6391657: 6391657
20 SMPD1 NM_000543.4(SMPD1): c.592G> C (p.Ala198Pro) single nucleotide variant Pathogenic rs797044798 GRCh37 Chromosome 11, 6412887: 6412887
21 SMPD1 NM_000543.4(SMPD1): c.971C> T (p.Thr324Ile) single nucleotide variant Benign rs1050233 GRCh38 Chromosome 11, 6392036: 6392036
22 SMPD1 NM_000543.4(SMPD1): c.971C> T (p.Thr324Ile) single nucleotide variant Benign rs1050233 GRCh37 Chromosome 11, 6413266: 6413266
23 SMPD1 NM_000543.4(SMPD1): c.1076C> A (p.Ala359Asp) single nucleotide variant Pathogenic rs797044800 GRCh38 Chromosome 11, 6392141: 6392141
24 SMPD1 NM_000543.4(SMPD1): c.1076C> A (p.Ala359Asp) single nucleotide variant Pathogenic rs797044800 GRCh37 Chromosome 11, 6413371: 6413371
25 SMPD1 NM_000543.4(SMPD1): c.1522G> C (p.Gly508Arg) single nucleotide variant Benign rs1050239 GRCh38 Chromosome 11, 6394233: 6394233
26 SMPD1 NM_000543.4(SMPD1): c.1522G> C (p.Gly508Arg) single nucleotide variant Benign rs1050239 GRCh37 Chromosome 11, 6415463: 6415463
27 SMPD1 NM_000543.4(SMPD1): c.1734G> C (p.Lys578Asn) single nucleotide variant Pathogenic rs747342458 GRCh38 Chromosome 11, 6394445: 6394445
28 SMPD1 NM_000543.4(SMPD1): c.1734G> C (p.Lys578Asn) single nucleotide variant Pathogenic rs747342458 GRCh37 Chromosome 11, 6415675: 6415675
29 SMPD1 NM_000543.4(SMPD1): c.874C> A (p.Gln292Lys) single nucleotide variant Pathogenic rs797044799 GRCh38 Chromosome 11, 6391939: 6391939
30 SMPD1 NM_000543.4(SMPD1): c.874C> A (p.Gln292Lys) single nucleotide variant Pathogenic rs797044799 GRCh37 Chromosome 11, 6413169: 6413169
31 SMPD1 NM_000543.4(SMPD1): c.1763C> T (p.Thr588Met) single nucleotide variant Benign/Likely benign rs35785620 GRCh37 Chromosome 11, 6415704: 6415704
32 SMPD1 NM_000543.4(SMPD1): c.1763C> T (p.Thr588Met) single nucleotide variant Benign/Likely benign rs35785620 GRCh38 Chromosome 11, 6394474: 6394474
33 SMPD1 NM_000543.4(SMPD1): c.107_112delTGCTGG (p.Val36_Leu37del) deletion Uncertain significance rs775860642 GRCh38 Chromosome 11, 6390705: 6390710
34 SMPD1 NM_000543.4(SMPD1): c.107_112delTGCTGG (p.Val36_Leu37del) deletion Uncertain significance rs775860642 GRCh37 Chromosome 11, 6411935: 6411940
35 SMPD1 NM_000543.4(SMPD1): c.1749G> A (p.Ser583=) single nucleotide variant Uncertain significance rs35098198 GRCh37 Chromosome 11, 6415690: 6415690
36 SMPD1 NM_000543.4(SMPD1): c.1749G> A (p.Ser583=) single nucleotide variant Uncertain significance rs35098198 GRCh38 Chromosome 11, 6394460: 6394460
37 SMPD1 NM_000543.4(SMPD1): c.813T> C (p.Pro271=) single nucleotide variant Conflicting interpretations of pathogenicity rs61876771 GRCh38 Chromosome 11, 6391878: 6391878
38 SMPD1 NM_000543.4(SMPD1): c.813T> C (p.Pro271=) single nucleotide variant Conflicting interpretations of pathogenicity rs61876771 GRCh37 Chromosome 11, 6413108: 6413108
39 SMPD1 NM_000543.4(SMPD1): c.714A> G (p.Ala238=) single nucleotide variant Benign/Likely benign rs2682091 GRCh37 Chromosome 11, 6413009: 6413009
40 SMPD1 NM_000543.4(SMPD1): c.714A> G (p.Ala238=) single nucleotide variant Benign/Likely benign rs2682091 GRCh38 Chromosome 11, 6391779: 6391779
41 SMPD1 NM_000543.4(SMPD1): c.1091+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs143612450 GRCh37 Chromosome 11, 6413395: 6413395
42 SMPD1 NM_000543.4(SMPD1): c.1091+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs143612450 GRCh38 Chromosome 11, 6392165: 6392165
43 SMPD1 NM_000543.4(SMPD1): c.807C> T (p.Ala269=) single nucleotide variant Benign/Likely benign rs35933246 GRCh37 Chromosome 11, 6413102: 6413102
44 SMPD1 NM_000543.4(SMPD1): c.807C> T (p.Ala269=) single nucleotide variant Benign/Likely benign rs35933246 GRCh38 Chromosome 11, 6391872: 6391872
45 SMPD1 NM_000543.4(SMPD1): c.1599G> A (p.Pro533=) single nucleotide variant Conflicting interpretations of pathogenicity rs552841217 GRCh37 Chromosome 11, 6415540: 6415540
46 SMPD1 NM_000543.4(SMPD1): c.1599G> A (p.Pro533=) single nucleotide variant Conflicting interpretations of pathogenicity rs552841217 GRCh38 Chromosome 11, 6394310: 6394310
47 SMPD1 NM_000543.4(SMPD1): c.441G> A (p.Val147=) single nucleotide variant Conflicting interpretations of pathogenicity rs148944108 GRCh37 Chromosome 11, 6412736: 6412736
48 SMPD1 NM_000543.4(SMPD1): c.441G> A (p.Val147=) single nucleotide variant Conflicting interpretations of pathogenicity rs148944108 GRCh38 Chromosome 11, 6391506: 6391506
49 SMPD1 NM_000543.4(SMPD1): c.1589G> C (p.Gly530Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs35122256 GRCh37 Chromosome 11, 6415530: 6415530
50 SMPD1 NM_000543.4(SMPD1): c.1589G> C (p.Gly530Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs35122256 GRCh38 Chromosome 11, 6394300: 6394300

Expression for Niemann-Pick Disease

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

Pathways for Niemann-Pick Disease

GO Terms for Niemann-Pick Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 APOD GBA NEGR1 NPC1 NPC2 PSAP
2 extracellular space GO:0005615 9.8 APOD CHIT1 GBA NPC2 PSAP SMPD1
3 extracellular region GO:0005576 9.8 APOD CHIT1 NEGR1 NPC1 NPC2 PSAP
4 perinuclear region of cytoplasm GO:0048471 9.73 APOD M6PR NPC1 TLR4
5 endosome GO:0005768 9.71 M6PR NPC1 SMPD1 TLR4
6 lysosomal membrane GO:0005765 9.46 GBA M6PR NPC1 PSAP
7 lysosomal lumen GO:0043202 9.26 GBA NPC2 PSAP SMPD1
8 lysosome GO:0005764 9.17 CHIT1 GBA M6PR NPC1 NPC2 PSAP

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.85 CHIT1 GBA SMPD1 UGT8
2 response to drug GO:0042493 9.73 APOD NPC1 NPC1L1 SMPD1
3 steroid metabolic process GO:0008202 9.63 NPC1 NPC1L1 NPC2
4 cholesterol metabolic process GO:0008203 9.58 NPC1 NPC1L1 NPC2
5 negative regulation of MAP kinase activity GO:0043407 9.57 GBA SMPD1
6 response to bacterium GO:0009617 9.56 CHIT1 TLR4
7 lipid transport GO:0006869 9.56 APOD NPC1 NPC1L1 PSAP
8 negative regulation of interleukin-6 production GO:0032715 9.54 GBA TLR4
9 ceramide biosynthetic process GO:0046513 9.52 GBA SMPD1
10 cholesterol efflux GO:0033344 9.51 NPC1 NPC2
11 sphingolipid metabolic process GO:0006665 9.5 GBA PSAP UGT8
12 low-density lipoprotein particle clearance GO:0034383 9.49 NPC1 NPC2
13 positive regulation of protein dephosphorylation GO:0035307 9.48 GBA SMPD1
14 termination of signal transduction GO:0023021 9.37 GBA SMPD1
15 cholesterol transport GO:0030301 9.33 NPC1 NPC1L1 NPC2
16 glycosphingolipid metabolic process GO:0006687 9.26 GBA PSAP SMPD1 UGT8
17 lipid metabolic process GO:0006629 9.17 APOD GBA NPC1 NPC1L1 NPC2 PSAP

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

# Name GO ID Score Top Affiliating Genes
1 lipid transporter activity GO:0005319 9.16 APOD NPC1
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 CHIT1 GBA SMPD1
3 cholesterol binding GO:0015485 8.8 APOD NPC1 NPC2

Sources for Niemann-Pick Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....