Niemann-Pick Disease (NPD)

Categories: Eye diseases, Genetic diseases, Liver diseases, Mental 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 12 74 20 43 53 15 37 39 17
Sphingomyelin/cholesterol Lipidosis 43 29 6
Niemann-Pick Diseases 54 44 71
Sphingomyelin Lipidosis 12 43
Lipoid Histiocytosis 12 71
Sphingomyelinase Deficiency Disease 12
Neuronal Cholesterol Lipidosis 43
Niemann-Pick Disease, Type a 71
Sphingomyelinase Deficiency 43
Lipid Histiocytosis 43
Neuronal Lipidosis 43
Npd 43


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Disease Ontology 12 DOID:14504
MeSH 44 D009542
NCIt 50 C61269
SNOMED-CT 67 58459009
ICD10 32 E75.24
UMLS 71 C0028064 C0268242 C0334123

Summaries for Niemann-Pick Disease

MedlinePlus Genetics : 43 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.Infants with Niemann-Pick disease type A usually develop an enlarged liver and spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at the expected rate (failure to thrive). The affected children develop normally until around age 1 year when they experience a progressive loss of mental abilities and movement (psychomotor regression). Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung disease) that can cause recurrent lung infections and eventually lead to respiratory failure. All affected children have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Children with Niemann-Pick disease type A generally do not survive past early childhood.Niemann-Pick disease type B usually presents in mid-childhood. The signs and symptoms of this type are similar to type A, but not as severe. People with Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung infections, and a low number of platelets in the blood (thrombocytopenia). They also have short stature and slowed mineralization of bone (delayed bone age). About one-third of affected individuals have the cherry-red spot eye abnormality or neurological impairment. People with Niemann-Pick disease type B usually survive into adulthood.The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 usually become apparent in childhood, although signs and symptoms can develop at any time. People with these types usually develop difficulty coordinating movements (ataxia), an inability to move the eyes vertically (vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals with Niemann-Pick disease types C1 and C2 have problems with speech and swallowing that worsen over time, eventually interfering with feeding. Affected individuals often experience progressive decline in intellectual function and about one-third have seizures. People with these types may survive into adulthood.

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 c2, and has symptoms including constipation, muscle weakness and vomiting. 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 Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and spleen, and related phenotypes are Decreased viability and Decreased viability

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

GARD : 20 Niemann-Pick disease (NPD) is a group of inherited metabolic 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.

NINDS : 53 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.

Wikipedia : 74 Niemann-Pick disease is a group of severe inherited 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 354)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type b 33.9 SMPD1 NPC2 NPC1 CHIT1 APBB1
2 niemann-pick disease, type c2 33.7 SMPD1 PSAP NPC2 NPC1
3 niemann-pick disease, type c1 33.6 UGCG SMPD1 PSAP NPC2 NPC1L1 NPC1
4 niemann-pick disease, type a 33.6 UGT8 SMPD1 PSAP NPC2 NPC1 MBP
5 niemann-pick disease type c, juvenile neurologic onset 32.9 NPC2 NPC1
6 niemann-pick disease type c, adult neurologic onset 32.9 NPC2 NPC1
7 acid sphingomyelinase deficiency 32.8 SMPD1 NPC1
8 niemann-pick disease type c, severe early infantile neurologic onset 32.7 NPC2 NPC1
9 niemann-pick disease type c, late infantile neurologic onset 32.7 NPC2 NPC1
10 niemann-pick disease type c, severe perinatal form 32.7 NPC2 NPC1
11 lysosomal storage disease 32.5 SMPD1 PSAP NPC2 NPC1 M6PR IL6
12 sphingolipidosis 32.0 UGCG SMPD1 PSAP NPC2 NPC1 MBP
13 lipid storage disease 31.4 UGCG TLR4 SMPD1 PSAP NPC2 NPC1
14 inherited metabolic disorder 31.3 NPC2 NPC1 IL6 GBA
15 aspiration pneumonia 31.1 NPC2 NPC1 IL6
16 gaucher's disease 31.1 UGCG SMPD1 PSAP NPC2 NPC1 M6PR
17 mucolipidosis ii alpha/beta 31.1 SMPD1 PSAP M6PR IGF2R
18 lysosomal acid lipase deficiency 31.0 SMPD1 NPC2 NPC1 M6PR CHIT1
19 gangliosidosis 31.0 UGCG PSAP CHIT1
20 gm1 gangliosidosis 30.8 UGCG PSAP NPC2 NPC1 CHIT1
21 metachromatic leukodystrophy 30.7 UGT8 SMPD1 PSAP NPC2 NPC1 MBP
22 chitotriosidase deficiency 30.7 GBA CHIT1
23 gm1-gangliosidosis, type i 30.6 SMPD1 PSAP NPC2 NPC1 CHIT1
24 sandhoff disease 30.6 UGCG SMPD1 PSAP NPC2 NPC1
25 mucolipidosis 30.6 SMPD1 PSAP NPC1 M6PR LAMP1
26 neuronal ceroid lipofuscinosis 30.6 SMPD1 PSAP NPC2 M6PR LAMP1
27 farber lipogranulomatosis 30.5 UGCG SMPD1 PSAP NPC1 ASAH2
28 krabbe disease 30.5 UGT8 UGCG SMPD1 PSAP NPC2 NPC1
29 alzheimer disease 30.4 NPC1 IL6 IGF2R GBA ASAH2 APOD
30 tay-sachs disease 30.4 UGCG SMPD1 PSAP NPC2 NPC1 M6PR
31 mucopolysaccharidosis-plus syndrome 30.4 SMPD1 NPC2 NPC1 M6PR LAMP1 IGF2R
32 traumatic brain injury 30.2 MBP IL6
33 fabry disease 30.1 UGCG PSAP M6PR LAMP1 IL6 GBA
34 sea-blue histiocyte disease 11.3
35 narcissistic personality disorder 11.1
36 splenomegaly 10.9
37 ataxia and polyneuropathy, adult-onset 10.9
38 dystonia 10.7
39 dysphagia 10.7
40 autosomal recessive disease 10.7
41 kearns-sayre syndrome 10.7
42 liver disease 10.6
43 cholestasis 10.6
44 interstitial lung disease 10.6
45 lung disease 10.6
46 hypotonia 10.6
47 histiocytosis 10.5
48 tremor 10.5
49 mucolipidosis iv 10.4 NPC2 NPC1 LAMP1
50 respiratory failure 10.4

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, muscle weakness, vomiting

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

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.7 CCL18 PVALB
2 Decreased viability GR00249-S 9.7 CHIT1 GBA IGF2R TLR4
3 Decreased viability GR00342-S-3 9.7 TLR4
4 Decreased viability GR00381-A-1 9.7 APBB1 CHIT1 PVALB SMPD1 UGCG UGT8
5 Decreased viability GR00386-A-1 9.7 APBB1 ASAH2 LAMP1 M6PR TLR4
6 Decreased viability GR00402-S-2 9.7 CHIT1 GBA LAMP1 MBP NPC1L1 TLR4

MGI Mouse Phenotypes related to Niemann-Pick Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 APBB1 APOD GBA IGF2R IL6 M6PR
2 growth/size/body region MP:0005378 10.31 APBB1 GBA IGF2R IL6 LAMP1 M6PR
3 cellular MP:0005384 10.3 APBB1 GBA IGF2R IL6 LAMP1 M6PR
4 homeostasis/metabolism MP:0005376 10.3 APOD ASAH2 GBA IGF2R IL6 LAMP1
5 mortality/aging MP:0010768 10.16 APBB1 APOD GBA IGF2R IL6 LAMP1
6 hematopoietic system MP:0005397 10.14 GBA IGF2R IL6 M6PR MBP NPC1
7 nervous system MP:0003631 10.03 APBB1 APOD GBA IGF2R IL6 LAMP1
8 liver/biliary system MP:0005370 9.97 GBA IGF2R IL6 NPC1 NPC1L1 NPC2
9 normal MP:0002873 9.65 APBB1 GBA IGF2R LAMP1 MBP NPC1
10 respiratory system MP:0005388 9.23 GBA IGF2R IL6 NPC1 NPC2 PSAP

Drugs & Therapeutics for Niemann-Pick Disease

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Miglustat Approved Phase 4 72599-27-0 51634
2 Anti-HIV Agents Phase 4
3 Cardiac Glycosides Phase 4
4 Anti-Infective Agents Phase 4
5 Antiviral Agents Phase 4
6 Anti-Retroviral Agents Phase 4
7 Hypoglycemic Agents Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
11 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Immunosuppressive Agents Phase 2, Phase 3
18 Antirheumatic Agents Phase 2, Phase 3
19 Alkylating Agents Phase 2, Phase 3
20 Antilymphocyte Serum Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Pharmaceutical Solutions Phase 2, Phase 3
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
alemtuzumab Approved, Investigational Phase 2 216503-57-0
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
29 Protective Agents Phase 1, Phase 2
30 Respiratory System Agents Phase 1, Phase 2
31 Antioxidants Phase 1, Phase 2
32 N-monoacetylcystine Phase 1, Phase 2
33 Expectorants Phase 1, Phase 2
34 Antidotes Phase 1, Phase 2
35 Histone Deacetylase Inhibitors Phase 1, Phase 2
Bilirubin Phase 1, Phase 2 635-65-4 5280352
37 Liver Extracts Phase 1, Phase 2
38 Antineoplastic Agents, Immunological Phase 2
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106
Lithium carbonate Approved Early Phase 1 554-13-2
41 Antidepressive Agents Early Phase 1
42 Psychotropic Drugs Early Phase 1
43 Immunologic Factors
44 Complement System Proteins

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects Recruiting NCT03910621 Phase 4 Miglustat
2 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
3 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
5 A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270
6 Arimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
7 A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301 Active, not recruiting NCT03879655 Phase 2, Phase 3 VTS-270
8 Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Active, not recruiting NCT03643562 Phase 3 Adrabetadex
9 A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Completed NCT02292654 Phase 1, Phase 2 Olipudase alfa
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 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
12 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
13 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
14 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
15 A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004704 Phase 2 GZ402665
16 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Active, not recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
17 A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes Active, not recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
18 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Active, not recruiting NCT03759639 Phase 2 IB1001
19 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
20 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
21 An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease Withdrawn NCT03687476 Phase 2 VTS-270
22 An Open-label, Multicenter, Ascending Dose Study of the Tolerability and Safety of Recombinant Human Acid Sphingomyelinase (rhASM) in Patients With Acid Sphingomyelinase Deficiency (ASMD) Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
23 A Phase I/II Randomized, Controlled Study of OGT 918 in Adult and Juvenile Patients With Niemann Pick C Disease Completed NCT00316498 Phase 1 OGT918
24 A Phase I Study to Evaluate the Single and Multiple-dose Pharmacokinetics of Intravenous Trappsol Cyclo (HP-Beta-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) and the Effects of Dosing Upon Biomarkers of NPC Disease Completed NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
25 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
26 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
27 An Open-Label Extension Study of the Long-Term Safety and Efficacy of Intravenous Trappsol® Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) Active, not recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
28 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
29 A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
30 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
31 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
32 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Completed NCT03883750
33 Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick Disease Through the Eyes of Patients and Families Completed NCT04469894
34 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
35 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Signo-symptomatology Progression Pattern Completed NCT02435030
36 Positron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
37 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544
38 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
39 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
40 a Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 Type Active, not recruiting NCT03201627 Early Phase 1 Lithium Carbonate
41 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Active, not recruiting NCT01306604
42 Early Access Program With Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US Available NCT04316637 Arimoclomol
43 Complement Activation in the Lysosomal Storage Disorders Not yet recruiting NCT04189601
44 Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358

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:

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

Publications for Niemann-Pick Disease

Articles related to Niemann-Pick Disease:

(show top 50) (show all 1752)
# Title Authors PMID Year
Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease. 61 54
19944693 2010
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. 54 61
20111001 2010
CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency. 54 61
19819171 2010
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. 54 61
20075175 2010
Roles and regulation of secretory and lysosomal acid sphingomyelinase. 61 54
19385042 2009
Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A. 61 54
19187445 2009
[A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. 61 54
19411774 2009
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. 61 54
20040312 2009
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models. 61 54
18815062 2008
The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases. 61 54
18567738 2008
Prenatal revelation of Niemann-Pick disease type C in siblings. 61 54
18554276 2008
Altered lipid metabolism in brain injury and disorders. 54 61
18751914 2008
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. 61 54
17632693 2007
Sperm abnormalities in heterozygous acid sphingomyelinase knockout mice reveal a novel approach for the prevention of genetic diseases. 54 61
17525274 2007
Combination brain and systemic injections of AAV provide maximal functional and survival benefits in the Niemann-Pick mouse. 61 54
17517638 2007
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. 54 61
17360762 2007
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. 54 61
17011332 2006
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? 61 54
16802107 2006
The lysosomal trafficking of acid sphingomyelinase is mediated by sortilin and mannose 6-phosphate receptor. 54 61
16787399 2006
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. 61 54
16642440 2006
Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice. 54 61
16214420 2006
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. 54 61
16601902 2006
Lysosomal enzyme delivery by ICAM-1-targeted nanocarriers bypassing glycosylation- and clathrin-dependent endocytosis. 54 61
16153895 2006
AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. 54 61
16099409 2005
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease. 54 61
16010684 2005
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. 61 54
15877209 2005
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. 54 61
15545621 2004
Preimplantation genetic diagnosis for Niemann-Pick disease type B. 61 54
15612058 2004
Intracerebral transplantation of adult mouse neural progenitor cells into the Niemann-Pick-A mouse leads to a marked decrease in lysosomal storage pathology. 61 54
15564580 2004
Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases. 61 54
15369720 2004
Comparative effects of recombinant acid sphingomyelinase administration by different routes in niemann-pick disease mice. 61 54
15516789 2004
Lipid abnormalities in children with types A and B Niemann Pick disease. 54 61
15238911 2004
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1. 54 61
15221801 2004
Phosphatidylinositol-3,5-Bisphosphate is a potent and selective inhibitor of acid sphingomyelinase. 54 61
14515991 2003
Activation of human acid sphingomyelinase through modification or deletion of C-terminal cysteine. 61 54
12801930 2003
Purification and characterization of recombinant, human acid ceramidase. Catalytic reactions and interactions with acid sphingomyelinase. 54 61
12815059 2003
Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol. 61 54
12607113 2003
A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease. 61 54
12633609 2003
Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. 61 54
12556236 2003
Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice. 54 61
12213735 2002
Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span. 61 54
11994407 2002
Evidence for the association of ultraviolet-C and H(2)O(2)-induced apoptosis with acid sphingomyelinase activation. 54 61
11514235 2001
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease. 61 54
11454988 2001
Lysosomal sphingomyelinase is not solicited for apoptosis signaling. 61 54
11156942 2001
Niemann-Pick Disease versus acid sphingomyelinase deficiency. 54 61
11313707 2001
Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. 54 61
11023983 2000
Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease. 61 54
11083499 2000
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. 54 61
11173664 2000
Growth regulation, acid sphingomyelinase gene and genomic imprinting: lessons from an experiment of nature. 54 61
11310411 2000
Mobilization of late-endosomal cholesterol is inhibited by Rab guanine nucleotide dissociation inhibitor. 54 61
10662671 2000

Variations for Niemann-Pick Disease

ClinVar genetic disease variations for Niemann-Pick Disease:

6 (show top 50) (show all 95)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMPD1 NM_000543.5(SMPD1):c.874C>A (p.Gln292Lys) SNV Pathogenic 203426 rs797044799 11:6413169-6413169 11:6391939-6391939
2 SMPD1 NM_000543.5(SMPD1):c.996del (p.Phe333fs) Deletion Pathogenic 2990 rs387906289 11:6413286-6413286 11:6392056-6392056
3 SMPD1 NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) SNV Pathogenic 2984 rs120074120 11:6413083-6413083 11:6391853-6391853
4 SMPD1 NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter) SNV Pathogenic 370798 rs120074122 11:6413025-6413025 11:6391795-6391795
5 SMPD1 NM_000543.5(SMPD1):c.564del (p.Lys189fs) Deletion Pathogenic 496857 rs756366019 11:6412854-6412854 11:6391624-6391624
6 SMPD1 NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) SNV Pathogenic 2982 rs120074119 11:6415676-6415676 11:6394446-6394446
7 SMPD1 NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) SNV Pathogenic 370432 rs989639224 11:6412983-6412983 11:6391753-6391753
8 SMPD1 NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) SNV Pathogenic 188955 rs370129081 11:6415746-6415746 11:6394516-6394516
9 SMPD1 NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) Deletion Pathogenic 195086 rs794727252 11:6413076-6413098 11:6391846-6391868
10 SMPD1 NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) SNV Pathogenic 2994 rs120074128 11:6413175-6413175 11:6391945-6391945
11 SMPD1 NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) SNV Pathogenic 371341 rs1057517195 11:6412852-6412852 11:6391622-6391622
12 SMPD1 NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) SNV Pathogenic 2993 rs120074127 11:6414910-6414910 11:6393680-6393680
13 SMPD1 NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) SNV Pathogenic 93318 rs398123478 11:6415565-6415565 11:6394335-6394335
14 SMPD1 NM_000543.5(SMPD1):c.193del (p.Ser65fs) Deletion Pathogenic 371218 rs1057517098 11:6412019-6412019 11:6390789-6390789
15 SMPD1 NM_000543.5(SMPD1):c.573del (p.Ser192fs) Deletion Pathogenic 167710 rs727504167 11:6412868-6412868 11:6391638-6391638
16 SMPD1 NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) SNV Pathogenic 2991 rs120074125 11:6414531-6414531 11:6393301-6393301
17 SMPD1 NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) Deletion Pathogenic 189096 rs786204694 11:6412832-6412833 11:6391602-6391603
18 SMPD1 NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) SNV Pathogenic 288073 rs372287825 11:6414460-6414460 11:6393230-6393230
19 NPC1 NM_000271.5(NPC1):c.99_100del (p.Ala34fs) Deletion Pathogenic 986364 18:21153496-21153497 18:23573532-23573533
20 SMPD1 NM_000543.5(SMPD1):c.84del (p.Gly29fs) Deletion Pathogenic 551367 rs750157176 11:6411908-6411908 11:6390678-6390678
21 SMPD1 NM_000543.5(SMPD1):c.1092-1G>C SNV Pathogenic 93312 rs398123474 11:6414445-6414445 11:6393215-6393215
22 SMPD1 NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) SNV Pathogenic 2989 rs120074124 11:6413206-6413206 11:6391976-6391976
23 SMPD1 NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) SNV Pathogenic 203427 rs797044800 11:6413371-6413371 11:6392141-6392141
24 SMPD1 NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) SNV Pathogenic 2992 rs120074126 11:6414850-6414850 11:6393620-6393620
25 SMPD1 NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) SNV Pathogenic 93315 rs182812968 11:6415211-6415211 11:6393981-6393981
26 APBB1 NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) SNV Pathogenic 2980 rs120074117 11:6415434-6415434 11:6394204-6394204
27 SMPD1 NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn) SNV Pathogenic 203428 rs747342458 11:6415675-6415675 11:6394445-6394445
28 APBB1 NM_000543.5(SMPD1):c.1826_1828GCC[1] (p.Arg610del) Microsatellite Pathogenic 198093 rs120074118 11:6415767-6415769 11:6394537-6394539
29 SMPD1 NM_000543.5(SMPD1):c.757G>C (p.Asp253His) SNV Pathogenic 93320 rs398123479 11:6413052-6413052 11:6391822-6391822
30 SMPD1 NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) SNV Pathogenic 203424 rs797044797 11:6412711-6412711 11:6391481-6391481
31 SMPD1 NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) SNV Pathogenic 167709 rs727504166 11:6412770-6412770 11:6391540-6391540
32 SMPD1 NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) SNV Pathogenic 189075 rs753508874 11:6415215-6415215 11:6393985-6393985
33 SMPD1 NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) SNV Pathogenic/Likely pathogenic 100731 rs587779408 11:6413034-6413034 11:6391804-6391804
34 SMPD1 NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) SNV Likely pathogenic 371576 rs750779804 11:6413043-6413043 11:6391813-6391813
35 SMPD1 NM_000543.5(SMPD1):c.518dup (p.Ser174fs) Duplication Likely pathogenic 189153 rs786204733 11:6412809-6412810 11:6391579-6391580
36 SMPD1 NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) SNV Likely pathogenic 198095 rs769904764 11:6415433-6415433 11:6394203-6394203
37 SMPD1 NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) SNV Likely pathogenic 385606 rs763566905 11:6415212-6415212 11:6393982-6393982
38 SMPD1 NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) SNV Likely pathogenic 2988 rs120074123 11:6414508-6414508 11:6393278-6393278
39 SMPD1 NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) SNV Likely pathogenic 2987 rs120074122 11:6413025-6413025 11:6391795-6391795
40 NPC1 NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln) SNV Likely pathogenic 986365 18:21124366-21124366 18:23544402-23544402
41 SMPD1 NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) SNV Likely pathogenic 650777 rs201550531 11:6413349-6413349 11:6392119-6392119
42 SMPD1 NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) SNV Likely pathogenic 2995 rs267607075 11:6415236-6415236 11:6394006-6394006
43 SMPD1 NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) Microsatellite Likely pathogenic 370363 rs1057516432 11:6414493-6414494 11:6393263-6393264
44 SMPD1 NM_000543.5(SMPD1):c.1341-1G>T SNV Likely pathogenic 371672 rs1057516854 11:6415125-6415125 11:6393895-6393895
45 SMPD1 NM_000543.5(SMPD1):c.1264-1G>T SNV Likely pathogenic 370394 rs1057516454 11:6414846-6414846 11:6393616-6393616
46 SMPD1 NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) SNV Likely pathogenic 662004 rs281860665 11:6415243-6415243 11:6394013-6394013
47 SMPD1 NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) SNV Likely pathogenic 167712 rs120074117 11:6415434-6415434 11:6394204-6394204
48 SMPD1 NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) SNV Conflicting interpretations of pathogenicity 203425 rs797044798 11:6412887-6412887 11:6391657-6391657
49 SMPD1 NM_000543.5(SMPD1):c.297C>G (p.Thr99=) SNV Conflicting interpretations of pathogenicity 305196 rs146630228 11:6412125-6412125 11:6390895-6390895
50 SMPD1 NM_000543.5(SMPD1):c.441G>A (p.Val147=) SNV Uncertain significance 287033 rs148944108 11:6412736-6412736 11:6391506-6391506

Expression for Niemann-Pick Disease

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

Pathways for Niemann-Pick Disease

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

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
10.3 NPC2 NPC1

GO Terms for Niemann-Pick Disease

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.13 SMPD1 PSAP NPC2 NPC1 IL6 CHIT1
2 extracellular exosome GO:0070062 10.11 SMPD1 PSAP NPC2 NPC1 LAMP1 IGF2R
3 Golgi apparatus GO:0005794 10.04 UGCG TLR4 NPC1 M6PR IGF2R GBA
4 endosome GO:0005768 9.91 TLR4 SMPD1 NPC1 M6PR LAMP1 IGF2R
5 neuronal cell body GO:0043025 9.8 PVALB MBP LAMP1 APOD APBB1
6 lysosomal membrane GO:0005765 9.72 PSAP NPC1 M6PR LAMP1 GBA
7 perinuclear region of cytoplasm GO:0048471 9.7 TLR4 NPC1 M6PR LAMP1 IGF2R APOD
8 late endosome GO:0005770 9.67 PSAP M6PR LAMP1 IGF2R
9 extracellular space GO:0005615 9.65 SMPD1 PSAP NPC2 IL6 IGF2R GBA
10 lysosomal lumen GO:0043202 9.56 SMPD1 PSAP NPC2 GBA
11 lysosome GO:0005764 9.23 SMPD1 PSAP NPC2 NPC1 M6PR LAMP1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.93 TLR4 MBP IL6 CHIT1 CCL18
2 neutrophil degranulation GO:0043312 9.91 PSAP NPC2 LAMP1 IGF2R CHIT1
3 response to drug GO:0042493 9.88 SMPD1 NPC1L1 NPC1 APOD
4 steroid metabolic process GO:0008202 9.8 NPC2 NPC1L1 NPC1 GBA
5 lipid transport GO:0006869 9.77 PSAP NPC2 NPC1L1 NPC1 APOD
6 viral entry into host cell GO:0046718 9.74 SMPD1 NPC1 LAMP1
7 positive regulation of interleukin-6 production GO:0032755 9.72 TLR4 MBP IL6
8 cholesterol metabolic process GO:0008203 9.72 SMPD1 NPC2 NPC1L1 NPC1 GBA
9 ceramide biosynthetic process GO:0046513 9.61 SMPD1 GBA ASAH2
10 lipid metabolic process GO:0006629 9.61 UGT8 UGCG PSAP NPC2 NPC1L1 NPC1
11 sphingosine biosynthetic process GO:0046512 9.58 GBA ASAH2
12 cholesterol transport GO:0030301 9.58 NPC2 NPC1L1 NPC1
13 intracellular cholesterol transport GO:0032367 9.56 NPC2 NPC1
14 lysosomal transport GO:0007041 9.56 PSAP NPC1 M6PR IGF2R
15 sphingolipid metabolic process GO:0006665 9.55 UGT8 UGCG PSAP GBA ASAH2
16 positive regulation of chemokine (C-X-C motif) ligand 2 production GO:2000343 9.52 TLR4 MBP
17 intestinal lipid absorption GO:0098856 9.48 UGCG NPC1L1
18 termination of signal transduction GO:0023021 9.46 SMPD1 GBA
19 glycosphingolipid metabolic process GO:0006687 9.02 UGT8 UGCG SMPD1 PSAP GBA

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 9.43 SMPD1 GBA CHIT1
2 retromer complex binding GO:1905394 9.16 M6PR IGF2R
3 cholesterol binding GO:0015485 9.13 NPC2 NPC1 APOD
4 lipid transporter activity GO:0005319 8.8 NPC1L1 NPC1 APOD

Sources for Niemann-Pick Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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