MCID: NMN002
MIFTS: 61

Niemann-Pick Disease

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

Aliases & Classifications for Niemann-Pick Disease

MalaCards integrated aliases for Niemann-Pick Disease:

Name: Niemann-Pick Disease 39 12 77 54 26 55 15 17
Sphingomyelin/cholesterol Lipidosis 26 30 6
Niemann-Pick Diseases 56 45 74
Sphingomyelin Lipidosis 12 26
Lipoid Histiocytosis 12 74
Sphingomyelinase Deficiency Disease 12
Neuronal Cholesterol Lipidosis 26
Niemann-Pick Disease, Type a 74
Sphingomyelinase Deficiency 26
Lipid Histiocytosis 26
Neuronal Lipidosis 26
Npd 26

Classifications:



External Ids:

Disease Ontology 12 DOID:14504
MeSH 45 D009542
NCIt 51 C61269
SNOMED-CT 69 58459009
ICD10 34 E75.24 E75.249

Summaries for Niemann-Pick Disease

NINDS : 55 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. Additional 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 b and niemann-pick disease type c, juvenile neurologic onset, and has symptoms including muscle weakness, constipation and vomiting. An important gene associated with Niemann-Pick Disease is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, and related phenotypes are behavior/neurological and homeostasis/metabolism

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

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

Wikipedia : 77 Niemann–Pick disease is a group of inherited, severe metabolic disorders in which sphingomyelin... 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 136)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type b 35.0 NPC1 NPC2 SMPD1
2 niemann-pick disease type c, juvenile neurologic onset 34.2 NPC1 NPC2
3 niemann-pick disease, type a 34.2 CHIT1 NPC1 NPC2 SMPD1 UGT8
4 niemann-pick disease, type c1 34.2 APOD NPC1 NPC1L1 NPC2 PSAP SMPD1
5 niemann-pick disease type c, severe perinatal form 34.2 NPC1 NPC2
6 niemann-pick disease type c, late infantile neurologic onset 34.2 NPC1 NPC2
7 niemann-pick disease type c, severe early infantile neurologic onset 34.2 NPC1 NPC2
8 niemann-pick disease type c, adult neurologic onset 34.2 NPC1 NPC2
9 niemann-pick disease, type c2 33.6 ISCA2 NEGR1 NPC1 NPC1L1 NPC2 SMPD1
10 acid sphingomyelinase deficiency 33.4 NPC1 SMPD1
11 sphingolipidosis 32.2 GBA NPC1 NPC2 PSAP SMPD1
12 gaucher's disease 30.7 CHIT1 GBA PSAP
13 splenomegaly 30.6 CHIT1 GBA
14 chitotriosidase deficiency 30.4 CHIT1 GBA
15 dementia 29.9 GBA NPC1 NPC2
16 lipid storage disease 29.7 GBA NPC1 NPC2 PSAP SMPD1
17 sea-blue histiocyte disease 11.8
18 narcissistic personality disorder 11.1
19 histiocytosis 10.6
20 infantile liver failure syndrome 1 10.5
21 scapuloperoneal myopathy, x-linked dominant 10.5
22 lysosomal storage disease 10.4
23 hepatocellular carcinoma 10.4
24 ichthyosis prematurity syndrome 10.4
25 crohn's disease 10.4
26 liver disease 10.4
27 alzheimer disease 10.3
28 schizophrenia 10.3
29 glycogen storage disease 10.3
30 hematopoietic stem cell transplantation 10.3
31 hepatitis 10.3
32 leukemia 10.3
33 osteomyelitis 10.3
34 pulmonary alveolar proteinosis 10.3
35 epilepsy 10.3
36 juvenile xanthogranuloma 10.3
37 peripheral nervous system disease 10.3
38 lung disease 10.3
39 neuropathy 10.3
40 developmental coordination disorder 10.3
41 myoclonus 10.3
42 tremor 10.3
43 developmental dyspraxia 10.3
44 dysphagia 10.3
45 multiple mitochondrial dysfunctions syndrome 4 10.2 ISCA2 NPC2
46 multiple mitochondrial dysfunctions syndrome 10.2 ISCA2 NPC2
47 arteries, anomalies of 10.1
48 breast cancer 10.1
49 multiple sclerosis 10.1
50 emphysema, congenital lobar 10.1

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:


muscle weakness, constipation, vomiting

MGI Mouse Phenotypes related to Niemann-Pick Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 APOD CES1 GBA IGF2R NEGR1 NPC1
2 homeostasis/metabolism MP:0005376 10.06 APOD CES1 GBA IGF2R NEGR1 NPC1
3 growth/size/body region MP:0005378 10.02 GBA IGF2R NEGR1 NPC1 NPC1L1 NPC2
4 cardiovascular system MP:0005385 9.98 APOD GBA IGF2R NEGR1 NPC1 NPC2
5 endocrine/exocrine gland MP:0005379 9.95 CES1 GBA IGF2R NPC1 NPC1L1 NPC2
6 immune system MP:0005387 9.86 CHIT1 GBA NEGR1 NPC1 NPC2 PSAP
7 liver/biliary system MP:0005370 9.81 CES1 GBA IGF2R NEGR1 NPC1 NPC1L1
8 nervous system MP:0003631 9.56 APOD GBA IGF2R NPC1 NPC2 PSAP
9 respiratory system MP:0005388 9.1 GBA IGF2R NPC1 NPC2 PSAP SMPD1

Drugs & Therapeutics for Niemann-Pick Disease

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

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1 72599-27-0 51634
2
1-Deoxynojirimycin Investigational Phase 4,Phase 3,Phase 2 19130-96-2 1374
3 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2
5 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
6 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
7 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1
10
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
11
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
12
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
13
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
14
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
15
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
16
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Prednisolone acetate Phase 2, Phase 3
18 Antineoplastic Agents, Alkylating Phase 2, Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3
20 Methylprednisolone Acetate Phase 2, Phase 3
21 Immunologic Factors Phase 2, Phase 3
22 Alkylating Agents Phase 2, Phase 3
23 Antilymphocyte Serum Phase 2, Phase 3
24 Antirheumatic Agents Phase 2, Phase 3
25 Liver Extracts Phase 2, Phase 3,Phase 3,Phase 1
26 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
27
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
28
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
29
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
30
alemtuzumab Approved, Investigational Phase 2 216503-57-0
31
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
32
Betadex Experimental Phase 1, Phase 2,Phase 2 7585-39-9 320761
33
Emodepside Investigational, Vet_approved Phase 1, Phase 2 155030-63-0
34 Histone Deacetylase Inhibitors Phase 1, Phase 2
35 cysteine Phase 1, Phase 2
36 Free Radical Scavengers Phase 1, Phase 2
37 Antioxidants Phase 1, Phase 2
38 Antidotes Phase 1, Phase 2
39 Expectorants Phase 1, Phase 2
40 N-monoacetylcystine Phase 1, Phase 2
41 Respiratory System Agents Phase 1, Phase 2
42 Protective Agents Phase 1, Phase 2
43
Bilirubin Phase 1, Phase 2 635-65-4, 69853-43-6 21252250 5280352
44 Tranquilizing Agents Phase 1, Phase 2
45 Central Nervous System Depressants Phase 1, Phase 2
46 Antidepressive Agents Phase 1, Phase 2
47 Antimanic Agents Phase 1, Phase 2
48 Psychotropic Drugs Phase 1, Phase 2
49 leucine Phase 2
50 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Miglustat in Chinese NPC Patients Not yet recruiting NCT03910621 Phase 4 Miglustat
2 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
5 Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD) Recruiting NCT03822013 Phase 3 Miglustat
6 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
7 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
8 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
9 Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1 Not yet recruiting NCT03879655 Phase 2, Phase 3 VTS-270
10 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
11 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
12 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
13 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
14 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
15 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
16 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
17 Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 Recruiting NCT03887533 Phase 1, Phase 2 VTS-270
18 Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
19 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
20 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
21 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
22 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
23 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
24 N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC) Not yet recruiting NCT03759639 Phase 2 IB1001
25 Safety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) Disease Not yet recruiting NCT03687476 Phase 2 VTS-270
26 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
27 Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
28 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1 OGT918
29 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
30 Open‐Label Study of Long‐Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann‐Pick Disease Type C Recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
31 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) Recruiting NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
32 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
33 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
34 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
35 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
36 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
37 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
38 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030
39 PET Scan of Brain Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
40 Induced Pluripotent Stem Cells for Niemann Pick Disease Recruiting NCT03883750
41 Biomarker for Niemann Pick Type C Disease (BioNPC) Recruiting NCT01306604
42 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
43 Molecular and Cellular Mechanisms of Lysosomal Storage Diseases Recruiting NCT02000310
44 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
45 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
46 An Open-label Treatment Protocol for VTS-270 in Patients With Neurologic Manifestations of NPC Available NCT03643562 VTS270
47 Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358 Not Applicable

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 30

Anatomical Context for Niemann-Pick Disease

MalaCards organs/tissues related to Niemann-Pick Disease:

42
Bone, Brain, Bone Marrow, Spleen, Liver, Eye, Lung

Publications for Niemann-Pick Disease

Articles related to Niemann-Pick Disease:

(show top 50) (show all 835)
# Title Authors Year
1
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up. ( 30795770 )
2019
2
Acid sphingomyelinase deficiency (Niemann‒Pick disease Type B) as an inflammatory disease. ( 30846233 )
2019
3
Niemann-Pick Disease Type B: A Rare Cause of Lung Cysts. ( 30025906 )
2019
4
Cyclodextrin-Based Macromolecular Systems as Cholesterol-Mopping Therapeutic Agents in Niemann-Pick Disease Type C. ( 30216584 )
2019
5
Lung transplantation in a patient with Niemann-Pick disease. ( 30420303 )
2019
6
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? ( 30665446 )
2019
7
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review. ( 30732631 )
2019
8
A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. ( 30737051 )
2019
9
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene. ( 30820861 )
2019
10
In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-β-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C. ( 30845767 )
2019
11
Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history. ( 30850267 )
2019
12
Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model. ( 30870990 )
2019
13
Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C. ( 30876856 )
2019
14
The Effects of Liver Transplantation in Children with Niemann-Pick Disease Type B. ( 30912297 )
2019
15
Multimodal imaging including optical coherence tomography angiography in patients with type B Niemann-Pick disease. ( 30977024 )
2019
16
Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene. ( 31009819 )
2019
17
Interferon downstream signaling is activated early in pre-symptomatic Niemann-Pick disease type C. ( 31067492 )
2019
18
Pediatric liver transplantation for neonatal-onset Niemann-Pick disease type C: Japanese multicenter experience. ( 31081242 )
2019
19
Functional analysis of Niemann-Pick disease type C family protein, NPC1a, in Drosophila melanogaster. ( 31092503 )
2019
20
Corrigendum to "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" [Mol. Genet. Metab. 118 (2016) 206-213]. ( 29129654 )
2018
21
Crohn's Disease in Niemann-Pick Disease Type C1: Caught in the Cross-Fire of Host-Microbial Interactions. ( 29411209 )
2018
22
Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity. ( 29090525 )
2018
23
Cognition and anatomy of adult Niemann-Pick disease type C: Insights for the Alzheimer field. ( 28662611 )
2018
24
Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat. ( 28710748 )
2018
25
Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C. ( 29074317 )
2018
26
Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods. ( 29100954 )
2018
27
Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1. ( 29246094 )
2018
28
LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss. ( 29346563 )
2018
29
In Vivo Assessment of Neurodegeneration in Type C Niemann-Pick Disease by IDEAL-IQ. ( 29354005 )
2018
30
Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model. ( 29357083 )
2018
31
Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 29390035 )
2018
32
Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing. ( 29453517 )
2018
33
Systematic review of psychiatric signs in Niemann-Pick disease type C. ( 29457916 )
2018
34
Niemann-Pick Disease, Type C1 Gene Expression in PBMCs is Associated with Interleukin 10 Serum Concentration: a Case-Control Study. ( 29479887 )
2018
35
The prognostic value of Niemann-Pick C1-like protein 1 and Niemann-Pick disease type C2 in hepatocellular carcinoma. ( 29483961 )
2018
36
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report. ( 29536386 )
2018
37
Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1. ( 29587349 )
2018
38
Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention. ( 29617956 )
2018
39
Consensus clinical management guidelines for Niemann-Pick disease type C. ( 29625568 )
2018
40
Large pericardial effusion and tamponade in young male with Niemann-Pick disease type C. ( 29898264 )
2018
41
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
42
Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C. ( 29930807 )
2018
43
Application of a simple methodology to analyze Hydroxypropyl-β-Cyclodextrin in urine using HPLC-LS in early Niemann-Pick disease type C patient. ( 29990712 )
2018
44
Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals. ( 30023294 )
2018
45
Fatal Postpartum Hemorrhage in a Patient with Niemann-Pick Disease Type B. ( 30050708 )
2018
46
Miglustat in Niemann-Pick disease type C patients: a review. ( 30111334 )
2018
47
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials. ( 30115089 )
2018
48
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report. ( 30119649 )
2018
49
Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds. ( 30135069 )
2018
50
Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report. ( 30223864 )
2018

Variations for Niemann-Pick Disease

ClinVar genetic disease variations for Niemann-Pick Disease:

6 (show top 50) (show all 100)
# 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.1071C> T (p.Ala357=) single nucleotide variant Conflicting interpretations of pathogenicity rs72896268 GRCh37 Chromosome 11, 6413366: 6413366
10 SMPD1 NM_000543.4(SMPD1): c.1071C> T (p.Ala357=) single nucleotide variant Conflicting interpretations of pathogenicity rs72896268 GRCh38 Chromosome 11, 6392136: 6392136
11 SMPD1 NM_000543.4(SMPD1): c.107T> C (p.Val36Ala) single nucleotide variant Benign rs1050228 GRCh37 Chromosome 11, 6411935: 6411935
12 SMPD1 NM_000543.4(SMPD1): c.107T> C (p.Val36Ala) single nucleotide variant Benign rs1050228 GRCh38 Chromosome 11, 6390705: 6390705
13 SMPD1 NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp) single nucleotide variant Pathogenic/Likely pathogenic rs182812968 GRCh37 Chromosome 11, 6415211: 6415211
14 SMPD1 NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp) single nucleotide variant Pathogenic/Likely pathogenic rs182812968 GRCh38 Chromosome 11, 6393981: 6393981
15 SMPD1 NM_000543.4(SMPD1): c.1522G> A (p.Gly508Arg) single nucleotide variant Benign/Likely benign rs1050239 GRCh37 Chromosome 11, 6415463: 6415463
16 SMPD1 NM_000543.4(SMPD1): c.1522G> A (p.Gly508Arg) single nucleotide variant Benign/Likely benign rs1050239 GRCh38 Chromosome 11, 6394233: 6394233
17 SMPD1 NM_000543.4(SMPD1): c.636T> C (p.Asp212=) single nucleotide variant Benign/Likely benign rs7951904 GRCh37 Chromosome 11, 6412931: 6412931
18 SMPD1 NM_000543.4(SMPD1): c.636T> C (p.Asp212=) single nucleotide variant Benign/Likely benign rs7951904 GRCh38 Chromosome 11, 6391701: 6391701
19 SMPD1 NM_000543.4(SMPD1): c.559C> T (p.Pro187Ser) single nucleotide variant Benign/Likely benign rs74053349 GRCh37 Chromosome 11, 6412854: 6412854
20 SMPD1 NM_000543.4(SMPD1): c.559C> T (p.Pro187Ser) single nucleotide variant Benign/Likely benign rs74053349 GRCh38 Chromosome 11, 6391624: 6391624
21 SMPD1 NM_000543.4(SMPD1): c.887G> A (p.Arg296Gln) single nucleotide variant Benign/Likely benign rs35824453 GRCh37 Chromosome 11, 6413182: 6413182
22 SMPD1 NM_000543.4(SMPD1): c.887G> A (p.Arg296Gln) single nucleotide variant Benign/Likely benign rs35824453 GRCh38 Chromosome 11, 6391952: 6391952
23 SMPD1 NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del) deletion Pathogenic rs120074118 GRCh37 Chromosome 11, 6415770: 6415772
24 SMPD1 NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del) deletion Pathogenic rs120074118 GRCh38 Chromosome 11, 6394540: 6394542
25 SMPD1 NM_000543.4(SMPD1): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs797044797 GRCh38 Chromosome 11, 6391481: 6391481
26 SMPD1 NM_000543.4(SMPD1): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs797044797 GRCh37 Chromosome 11, 6412711: 6412711
27 SMPD1 NM_000543.4(SMPD1): c.592G> C (p.Ala198Pro) single nucleotide variant Pathogenic rs797044798 GRCh38 Chromosome 11, 6391657: 6391657
28 SMPD1 NM_000543.4(SMPD1): c.592G> C (p.Ala198Pro) single nucleotide variant Pathogenic rs797044798 GRCh37 Chromosome 11, 6412887: 6412887
29 SMPD1 NM_000543.4(SMPD1): c.971C> T (p.Thr324Ile) single nucleotide variant Benign rs1050233 GRCh38 Chromosome 11, 6392036: 6392036
30 SMPD1 NM_000543.4(SMPD1): c.971C> T (p.Thr324Ile) single nucleotide variant Benign rs1050233 GRCh37 Chromosome 11, 6413266: 6413266
31 SMPD1 NM_000543.4(SMPD1): c.1076C> A (p.Ala359Asp) single nucleotide variant Pathogenic rs797044800 GRCh38 Chromosome 11, 6392141: 6392141
32 SMPD1 NM_000543.4(SMPD1): c.1076C> A (p.Ala359Asp) single nucleotide variant Pathogenic rs797044800 GRCh37 Chromosome 11, 6413371: 6413371
33 SMPD1 NM_000543.4(SMPD1): c.1522G> C (p.Gly508Arg) single nucleotide variant Benign rs1050239 GRCh38 Chromosome 11, 6394233: 6394233
34 SMPD1 NM_000543.4(SMPD1): c.1522G> C (p.Gly508Arg) single nucleotide variant Benign rs1050239 GRCh37 Chromosome 11, 6415463: 6415463
35 SMPD1 NM_000543.4(SMPD1): c.1734G> C (p.Lys578Asn) single nucleotide variant Pathogenic rs747342458 GRCh38 Chromosome 11, 6394445: 6394445
36 SMPD1 NM_000543.4(SMPD1): c.1734G> C (p.Lys578Asn) single nucleotide variant Pathogenic rs747342458 GRCh37 Chromosome 11, 6415675: 6415675
37 SMPD1 NM_000543.4(SMPD1): c.874C> A (p.Gln292Lys) single nucleotide variant Pathogenic rs797044799 GRCh38 Chromosome 11, 6391939: 6391939
38 SMPD1 NM_000543.4(SMPD1): c.874C> A (p.Gln292Lys) single nucleotide variant Pathogenic rs797044799 GRCh37 Chromosome 11, 6413169: 6413169
39 SMPD1 NM_000543.4(SMPD1): c.1763C> T (p.Thr588Met) single nucleotide variant Benign/Likely benign rs35785620 GRCh37 Chromosome 11, 6415704: 6415704
40 SMPD1 NM_000543.4(SMPD1): c.1763C> T (p.Thr588Met) single nucleotide variant Benign/Likely benign rs35785620 GRCh38 Chromosome 11, 6394474: 6394474
41 SMPD1 NM_000543.4(SMPD1): c.107_112delTGCTGG (p.Val36_Leu37del) deletion Conflicting interpretations of pathogenicity rs775860642 GRCh38 Chromosome 11, 6390705: 6390710
42 SMPD1 NM_000543.4(SMPD1): c.107_112delTGCTGG (p.Val36_Leu37del) deletion Conflicting interpretations of pathogenicity rs775860642 GRCh37 Chromosome 11, 6411935: 6411940
43 SMPD1 NM_000543.4(SMPD1): c.1749G> A (p.Ser583=) single nucleotide variant Conflicting interpretations of pathogenicity rs35098198 GRCh37 Chromosome 11, 6415690: 6415690
44 SMPD1 NM_000543.4(SMPD1): c.1749G> A (p.Ser583=) single nucleotide variant Conflicting interpretations of pathogenicity rs35098198 GRCh38 Chromosome 11, 6394460: 6394460
45 SMPD1 NM_000543.4(SMPD1): c.813T> C (p.Pro271=) single nucleotide variant Conflicting interpretations of pathogenicity rs61876771 GRCh37 Chromosome 11, 6413108: 6413108
46 SMPD1 NM_000543.4(SMPD1): c.813T> C (p.Pro271=) single nucleotide variant Conflicting interpretations of pathogenicity rs61876771 GRCh38 Chromosome 11, 6391878: 6391878
47 SMPD1 NM_000543.4(SMPD1): c.714A> G (p.Ala238=) single nucleotide variant Benign/Likely benign rs2682091 GRCh37 Chromosome 11, 6413009: 6413009
48 SMPD1 NM_000543.4(SMPD1): c.714A> G (p.Ala238=) single nucleotide variant Benign/Likely benign rs2682091 GRCh38 Chromosome 11, 6391779: 6391779
49 SMPD1 NM_000543.4(SMPD1): c.1091+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs143612450 GRCh37 Chromosome 11, 6413395: 6413395
50 SMPD1 NM_000543.4(SMPD1): c.1091+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs143612450 GRCh38 Chromosome 11, 6392165: 6392165

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 region GO:0005576 9.91 APOD CHIT1 NEGR1 NPC1 NPC2 PSAP
2 extracellular exosome GO:0070062 9.87 APOD GBA IGF2R NPC1 NPC2 PSAP
3 extracellular space GO:0005615 9.76 APOD CES1 CHIT1 GBA IGF2R NPC2
4 lysosomal membrane GO:0005765 9.56 GBA IGF2R NPC1 PSAP
5 lysosomal lumen GO:0043202 9.26 GBA NPC2 PSAP SMPD1
6 lysosome GO:0005764 9.17 CHIT1 GBA IGF2R NPC1 NPC2 PSAP

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.85 CHIT1 IGF2R NPC2 PSAP
2 response to drug GO:0042493 9.76 APOD NPC1 NPC1L1 SMPD1
3 metabolic process GO:0008152 9.74 CHIT1 GBA SMPD1
4 steroid metabolic process GO:0008202 9.67 NPC1 NPC1L1 NPC2
5 cholesterol biosynthetic process GO:0006695 9.58 CES1 NPC1L1
6 negative regulation of MAP kinase activity GO:0043407 9.58 GBA SMPD1
7 cholesterol metabolic process GO:0008203 9.58 NPC1 NPC1L1 NPC2
8 ceramide biosynthetic process GO:0046513 9.56 GBA SMPD1
9 positive regulation of protein dephosphorylation GO:0035307 9.54 GBA SMPD1
10 cholesterol efflux GO:0033344 9.52 NPC1 NPC2
11 low-density lipoprotein particle clearance GO:0034383 9.51 NPC1 NPC2
12 sphingolipid metabolic process GO:0006665 9.5 GBA PSAP UGT8
13 lysosomal transport GO:0007041 9.48 IGF2R NPC1
14 intracellular cholesterol transport GO:0032367 9.43 NPC1 NPC2
15 glycosphingolipid metabolic process GO:0006687 9.43 PSAP SMPD1 UGT8
16 termination of signal transduction GO:0023021 9.37 GBA SMPD1
17 lipid transport GO:0006869 9.35 APOD NPC1 NPC1L1 NPC2 PSAP
18 cholesterol transport GO:0030301 9.33 NPC1 NPC1L1 NPC2
19 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
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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