NPD
MCID: NMN002
MIFTS: 61

Niemann-Pick Disease (NPD)

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 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
Niemannpick Disease 76
Lipid Histiocytosis 25
Neuronal Lipidosis 25
Npd 25

Classifications:



External Ids:

Disease Ontology 12 DOID:14504
ICD10 33 E75.24 E75.249
MeSH 44 D009542
NCIt 50 C61269
SNOMED-CT 68 58459009

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. 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 a, 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 Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, and related phenotypes are behavior/neurological and growth/size/body region

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

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.

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.

Wikipedia : 76 Niemann�??Pick disease (/niːm�?n�?pɪk/ nee-m�?n-PIK) is a group of inherited, severe metabolic disorders... 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 119)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type b 34.8 NPC1 NPC2 SMPD1
2 niemann-pick disease, type a 34.4 CHIT1 NPC1 NPC2 SMPD1 UGT8
3 niemann-pick disease, type c1 34.3 APOD NPC1 NPC1L1 NPC2 PSAP SMPD1
4 niemann-pick disease type c, juvenile neurologic onset 34.0 NPC1 NPC2
5 niemann-pick disease type c, severe perinatal form 33.9 NPC1 NPC2
6 niemann-pick disease type c, late infantile neurologic onset 33.9 NPC1 NPC2
7 niemann-pick disease type c, severe early infantile neurologic onset 33.9 NPC1 NPC2
8 niemann-pick disease type c, adult neurologic onset 33.9 NPC1 NPC2
9 niemann-pick disease, type c2 33.6 ISCA2 NEGR1 NPC1 NPC1L1 NPC2 SMPD1
10 acid sphingomyelinase deficiency 33.2 NPC1 SMPD1
11 sphingolipidosis 32.3 GBA NPC1 NPC2 PSAP SMPD1
12 gaucher's disease 30.7 CHIT1 GBA PSAP
13 splenomegaly 30.6 CHIT1 GBA
14 chitotriosidase deficiency 30.3 CHIT1 GBA
15 dementia 30.0 GBA NPC1 NPC2
16 lipid storage disease 29.8 GBA NPC1 NPC2 PSAP SMPD1
17 sea-blue histiocyte disease 11.7
18 narcissistic personality disorder 11.1
19 histiocytosis 10.5
20 infantile liver failure syndrome 1 10.5
21 hepatocellular carcinoma 10.3
22 crohn's disease 10.3
23 liver disease 10.3
24 alzheimer disease 10.2
25 schizophrenia 10.2
26 glycogen storage disease 10.2
27 hematopoietic stem cell transplantation 10.2
28 hepatitis 10.2
29 leukemia 10.2
30 osteomyelitis 10.2
31 pulmonary alveolar proteinosis 10.2
32 epilepsy 10.2
33 juvenile xanthogranuloma 10.2
34 peripheral nervous system disease 10.2
35 lung disease 10.2
36 neuropathy 10.2
37 developmental coordination disorder 10.2
38 myoclonus 10.2
39 developmental dyspraxia 10.2
40 dysphagia 10.2
41 multiple mitochondrial dysfunctions syndrome 4 10.2 ISCA2 NPC2
42 multiple mitochondrial dysfunctions syndrome 10.2 ISCA2 NPC2
43 mucolipidosis ii alpha/beta 10.1 PSAP SMPD1
44 arteries, anomalies of 10.1
45 breast cancer 10.1
46 multiple sclerosis 10.1
47 emphysema, congenital lobar 10.1
48 myositis 10.1
49 thrombocytopenic purpura, autoimmune 10.1
50 chondrosarcoma 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 APOD GBA MBP NEGR1 NPC1 NPC2
2 growth/size/body region MP:0005378 10.13 GBA MBP NEGR1 NPC1 NPC1L1 NPC2
3 homeostasis/metabolism MP:0005376 10.11 APOD GBA MBP NEGR1 NPC1 NPC1L1
4 immune system MP:0005387 10.02 CHIT1 GBA MBP NEGR1 NPC1 NPC2
5 hematopoietic system MP:0005397 10.01 GBA MBP NEGR1 NPC1 NPC2 PSAP
6 cardiovascular system MP:0005385 10 APOD GBA NEGR1 NPC1 NPC2 PSAP
7 liver/biliary system MP:0005370 9.86 GBA NEGR1 NPC1 NPC1L1 NPC2 PSAP
8 mortality/aging MP:0010768 9.81 APOD GBA MBP NPC1 NPC2 PSAP
9 nervous system MP:0003631 9.61 APOD GBA MBP NPC1 NPC2 PSAP
10 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 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 3,Phase 2,Phase 1 72599-27-0 51634
2
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
7
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
8
1-Deoxynojirimycin Experimental, Investigational Phase 3,Phase 2 19130-96-2 1374
9
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
10 Cardiac Glycosides Phase 3,Phase 2,Phase 1
11 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
12 Antiviral Agents Phase 3,Phase 1,Phase 2
13 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
14 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
15 Anti-Infective Agents Phase 3,Phase 1,Phase 2
16 Anti-HIV Agents Phase 3,Phase 2,Phase 1
17 Prednisolone acetate Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Methylprednisolone acetate Phase 2, Phase 3
20 Alkylating Agents Phase 2, Phase 3
21 Immunologic Factors Phase 2, Phase 3
22 Antineoplastic Agents, Alkylating Phase 2, Phase 3
23 Antirheumatic Agents Phase 2, Phase 3
24 Antilymphocyte Serum 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 Histone Deacetylase Inhibitors Phase 1, Phase 2
34 Expectorants Phase 1, Phase 2
35 Respiratory System Agents Phase 1, Phase 2
36 Antioxidants Phase 1, Phase 2
37 Free Radical Scavengers Phase 1, Phase 2
38 Antidotes Phase 1, Phase 2
39 Protective Agents Phase 1, Phase 2
40 N-monoacetylcystine Phase 1, Phase 2
41 cysteine Phase 1, Phase 2
42
Bilirubin Phase 1, Phase 2 635-65-4 5280352
43 Antidepressive Agents Phase 1, Phase 2
44 Psychotropic Drugs Phase 1, Phase 2
45 Antimanic Agents Phase 1, Phase 2
46 Tranquilizing Agents Phase 1, Phase 2
47 Central Nervous System Depressants Phase 1, Phase 2

Interventional clinical trials:

(show all 41)
# 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 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
4 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
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 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
16 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
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 N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC) Not yet recruiting NCT03759639 Phase 2 IB1001
21 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
22 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
23 Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
24 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1 OGT918
25 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
26 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) Recruiting NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
27 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
28 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
29 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
30 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
31 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
32 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030
33 PET Scan of Brain Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
34 Biomarker for Niemann Pick Type C Disease Recruiting NCT01306604
35 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
36 Investigating Lysosomal Storage Diseases in Minority Groups Recruiting NCT02120235
37 Molecular and Cellular Mechanisms of Lysosomal Storage Diseases Recruiting NCT02000310
38 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
39 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
40 An Open-label Treatment Protocol for VTS-270 in Patients With Neurologic Manifestations of NPC Available NCT03643562 VTS270
41 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 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 820)
# 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
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
21
Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals. ( 30023294 )
2018
22
Niemann-Pick Disease Type B: A Rare Cause of Lung Cysts. ( 30025906 )
2018
23
Fatal Postpartum Hemorrhage in a Patient with Niemann-Pick Disease Type B. ( 30050708 )
2018
24
Miglustat in Niemann-Pick disease type C patients: a review. ( 30111334 )
2018
25
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials. ( 30115089 )
2018
26
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report. ( 30119649 )
2018
27
Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds. ( 30135069 )
2018
28
Cyclodextrin-Based Macromolecular Systems as Cholesterol-Mopping Therapeutic Agents in Niemann-Pick Disease Type C. ( 30216584 )
2018
29
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
30
Mass spectrometry imaging of lipids: untargeted consensus spectra reveal spatial distributions in Niemann-Pick disease type C1. ( 30266834 )
2018
31
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect. ( 30285904 )
2018
32
Necroptosis inhibition as a therapy for Niemann-Pick disease, type C1: Inhibition of RIP kinases and combination therapy with 2-hydroxypropyl-β-cyclodextrin. ( 30392741 )
2018
33
Lung transplantation in a patient with Niemann-Pick disease. ( 30420303 )
2018
34
Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1. ( 30424529 )
2018
35
Erratum: Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C. ( 30546884 )
2018
36
Niemann-Pick Disease Type C Associated with Fuchs Heterochromic Iridocyclitis. ( 29387679 )
2017
37
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. ( 29431164 )
2017
38
Interstitial Lung Disease Associated with Adult Niemann-Pick Disease Type B. ( 28601876 )
2017
39
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C. ( 28387450 )
2017
40
Niemann-Pick disease type C in the newborn period: a single-center experience. ( 28951965 )
2017
41
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult. ( 28421028 )
2017
42
2-hydroxypropyl-I^-cyclodextrins and the Blood-Brain Barrier: Considerations for Niemann-Pick Disease Type C1. ( 29065825 )
2017
43
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. ( 28328115 )
2017
44
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
45
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 28414792 )
2017
46
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): findings from the International NPC Registry. ( 28914127 )
2017
47
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. ( 28383485 )
2017
48
Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat. ( 28710748 )
2017
49
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
50
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

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 exosome GO:0070062 9.8 APOD GBA NPC1 NPC2 PSAP SMPD1
2 extracellular space GO:0005615 9.73 APOD CHIT1 GBA NPC2 PSAP SMPD1
3 extracellular region GO:0005576 9.7 APOD CHIT1 NEGR1 NPC1 NPC2 PSAP
4 lysosomal lumen GO:0043202 9.26 GBA NPC2 PSAP SMPD1
5 lysosome GO:0005764 9.1 CHIT1 GBA NPC1 NPC2 PSAP SMPD1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.76 APOD NPC1 NPC1L1 SMPD1
2 metabolic process GO:0008152 9.73 CHIT1 GBA SMPD1
3 steroid metabolic process GO:0008202 9.65 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 negative regulation of interleukin-6 production GO:0032715 9.55 GBA TLR4
7 ceramide biosynthetic process GO:0046513 9.54 GBA SMPD1
8 positive regulation of protein dephosphorylation GO:0035307 9.52 GBA SMPD1
9 cholesterol efflux GO:0033344 9.51 NPC1 NPC2
10 sphingolipid metabolic process GO:0006665 9.5 GBA PSAP UGT8
11 low-density lipoprotein particle clearance GO:0034383 9.49 NPC1 NPC2
12 intracellular cholesterol transport GO:0032367 9.43 NPC1 NPC2
13 glycosphingolipid metabolic process GO:0006687 9.43 PSAP SMPD1 UGT8
14 termination of signal transduction GO:0023021 9.37 GBA SMPD1
15 lipid transport GO:0006869 9.35 APOD NPC1 NPC1L1 NPC2 PSAP
16 cholesterol transport GO:0030301 9.33 NPC1 NPC1L1 NPC2
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

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