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 12 74 52 25 53 15 37 17
Sphingomyelin/cholesterol Lipidosis 25 29 6
Niemann-Pick Diseases 54 43 71
Sphingomyelin Lipidosis 12 25
Lipoid Histiocytosis 12 71
Sphingomyelinase Deficiency Disease 12
Neuronal Cholesterol Lipidosis 25
Niemann-Pick Disease, Type a 71
Sphingomyelinase Deficiency 25
Lipid Histiocytosis 25
Neuronal Lipidosis 25
Npd 25


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Disease Ontology 12 DOID:14504
MeSH 43 D009542
NCIt 49 C61269
SNOMED-CT 67 58459009
ICD10 32 E75.24
UMLS 71 C0028064 C0268242 C0334123

Summaries for Niemann-Pick Disease

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. 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 muscle weakness, vomiting and constipation. An important gene associated with Niemann-Pick Disease is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Sphingolipid metabolism and Spinal Cord Injury. The drugs Miglustat and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and bone, 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.

NIH Rare Diseases : 52 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 330)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type b 35.5 SMPD1 NPC2 NPC1 CHIT1
2 niemann-pick disease, type c2 35.3 SMPD1 PSAP NPC2 NPC1
3 niemann-pick disease, type c1 34.9 UGCG SMPD1 PSAP NPC2 NPC1L1 NPC1
4 niemann-pick disease type c, juvenile neurologic onset 34.8 NPC2 NPC1
5 niemann-pick disease type c, adult neurologic onset 34.7 NPC2 NPC1
6 niemann-pick disease type c, severe early infantile neurologic onset 34.7 NPC2 NPC1
7 niemann-pick disease type c, late infantile neurologic onset 34.7 NPC2 NPC1
8 niemann-pick disease type c, severe perinatal form 34.7 NPC2 NPC1
9 niemann-pick disease, type a 34.3 UGT8 SMPD1 PSAP NPC2 NPC1 MBP
10 acid sphingomyelinase deficiency 34.0 SMPD1 NPC1
11 lysosomal storage disease 32.4 SMPD1 PSAP NPC2 NPC1 M6PR IL6
12 sphingolipidosis 32.1 UGCG SMPD1 PSAP NPC2 NPC1 M6PR
13 gangliosidosis 31.0 UGCG PSAP CHIT1
14 mucolipidosis ii alpha/beta 31.0 SMPD1 PSAP M6PR IGF2R
15 gaucher disease, type i 31.0 UGCG SMPD1 PSAP LAMP1 GBA CHIT1
16 gaucher's disease 31.0 UGCG PSAP LAMP1 IL6 GBA CHIT1
17 inherited metabolic disorder 31.0 TLR4 NPC2 NPC1 IL6 GBA
18 chitotriosidase deficiency 30.8 GBA CHIT1
19 pick disease of brain 30.8 TARDBP SMPD1 NPC2 NPC1
20 farber lipogranulomatosis 30.8 UGCG SMPD1 PSAP
21 gm1 gangliosidosis 30.7 UGCG PSAP NPC2 NPC1 CHIT1
22 supranuclear palsy, progressive, 1 30.7 TARDBP PVALB GBA
23 peripheral nervous system disease 30.7 TLR4 MBP MAG IL6
24 lysosomal acid lipase deficiency 30.6 SMPD1 NPC2 NPC1 M6PR IGF2R CHIT1
25 lipid storage disease 30.5 UGCG TLR4 SMPD1 PSAP NPC2 NPC1
26 sandhoff disease 30.3 UGCG SMPD1 PSAP NPC2 NPC1 IGF2R
27 neuronal ceroid lipofuscinosis 30.2 SMPD1 PSAP NPC2 M6PR LAMP1 IGF2R
28 krabbe disease 30.2 SMPD1 PSAP MBP M6PR IGF2R GBA
29 tay-sachs disease 30.2 UGCG SMPD1 PSAP NPC2 NPC1 IGF2R
30 mucolipidosis 30.1 SMPD1 PSAP NPC2 NPC1 M6PR LAMP1
31 mucopolysaccharidosis-plus syndrome 30.0 SMPD1 NPC2 NPC1 M6PR LAMP1 IGF2R
32 traumatic brain injury 29.8 MBP IL6
33 metachromatic leukodystrophy 29.7 UGT8 SMPD1 PSAP NPC2 NPC1 MBP
34 fabry disease 29.5 UGCG PSAP M6PR LAMP1 IL6 GBA
35 sea-blue histiocyte disease 11.9
36 narcissistic personality disorder 11.4
37 splenomegaly 11.0
38 ataxia and polyneuropathy, adult-onset 10.9
39 dystonia 10.8
40 dysphagia 10.8
41 autosomal recessive disease 10.8
42 kearns-sayre syndrome 10.8
43 lung disease 10.7
44 cholestasis 10.7
45 interstitial lung disease 10.7
46 hypotonia 10.7
47 histiocytosis 10.6
48 tremor 10.6
49 respiratory failure 10.6
50 neonatal jaundice 10.5

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, vomiting, constipation

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 9.64 CCL18 PVALB
2 Decreased viability GR00249-S 9.64 CHIT1 GBA IGF2R TLR4
3 Decreased viability GR00342-S-3 9.64 TLR4
4 Decreased viability GR00381-A-1 9.64 CHIT1 PVALB SMPD1 UGCG UGT8
5 Decreased viability GR00386-A-1 9.64 LAMP1 M6PR TLR4
6 Decreased viability GR00402-S-2 9.64 CHIT1 GBA LAMP1 MBP NPC1L1 TLR4

MGI Mouse Phenotypes related to Niemann-Pick Disease:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 APOD GBA IGF2R IL6 M6PR MAG
2 homeostasis/metabolism MP:0005376 10.36 APOD GBA IGF2R IL6 M6PR MAG
3 growth/size/body region MP:0005378 10.35 GBA IGF2R IL6 LAMP1 M6PR MBP
4 cellular MP:0005384 10.34 GBA IGF2R IL6 LAMP1 M6PR MBP
5 hematopoietic system MP:0005397 10.23 GBA IGF2R IL6 MAG MBP NPC1
6 mortality/aging MP:0010768 10.22 APOD GBA IGF2R IL6 LAMP1 M6PR
7 immune system MP:0005387 10.18 CHIT1 GBA IL6 MAG MBP NPC1
8 nervous system MP:0003631 10.16 APOD GBA IGF2R IL6 LAMP1 MAG
9 liver/biliary system MP:0005370 10.02 GBA IGF2R IL6 NPC1 NPC1L1 NPC2
10 normal MP:0002873 9.81 GBA IGF2R LAMP1 MBP NPC1 PSAP
11 renal/urinary system MP:0005367 9.5 IGF2R IL6 M6PR PSAP PVALB TLR4
12 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 top 50) (show all 51)
# 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 Hypoglycemic Agents Phase 4
7 Anti-Retroviral Agents Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
12 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
Atorvastatin Approved Phase 3 134523-00-5 60823
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
16 Methylprednisolone Acetate Phase 2, Phase 3
17 Antilymphocyte Serum Phase 2, Phase 3
18 Pharmaceutical Solutions Phase 2, Phase 3
19 carnitine Phase 3
20 Hypolipidemic Agents Phase 3
21 Lipid Regulating Agents Phase 3
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
23 Anticholesteremic Agents Phase 3
24 Antimetabolites Phase 3
25 Liver Extracts Phase 2, Phase 3
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
Busulfan Approved, Investigational Phase 2 55-98-1 2478
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
34 Histone Deacetylase Inhibitors Phase 1, Phase 2
35 Respiratory System Agents Phase 1, Phase 2
36 Antidotes Phase 1, Phase 2
37 Antioxidants Phase 1, Phase 2
38 Expectorants Phase 1, Phase 2
39 N-monoacetylcystine Phase 1, Phase 2
40 Protective Agents Phase 1, Phase 2
Bilirubin Phase 1, Phase 2 69853-43-6, 635-65-4 21252250 5280352
42 Immunologic Factors Phase 2
43 Immunosuppressive Agents Phase 2
44 Alkylating Agents Phase 2
45 Antirheumatic Agents Phase 2
46 Antineoplastic Agents, Immunological Phase 2
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106
Lithium carbonate Approved Early Phase 1 554-13-2
49 Antidepressive Agents Early Phase 1
50 Psychotropic Drugs Early Phase 1

Interventional clinical trials:

(show top 50) (show all 52)
# 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 An Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 (Sebelipase Alfa) in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
5 Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Recruiting NCT03643562 Phase 3 Adrabetadex
6 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
7 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
8 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
9 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
10 Estudio clínico Fase III Para Evaluar la Eficacia terapéutica en Pacientes Mexicanos Con Dislipidemia Mediante el Uso vía Oral de L-Carnitina + Atorvastatina Comparado Con Atorvastatina Active, not recruiting NCT03696940 Phase 3 L-Carnitine 500Mg Oral Tablet + Atorvastatin 10 mg;Atorvastatin 10mg
11 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 Enrolling by invitation NCT03879655 Phase 2, Phase 3 VTS-270
12 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
13 An Open Label Multicenter Extension Study to Evaluate the Long-term Efficacy and Safety of SBC-102 in Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
14 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
15 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
16 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
17 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
18 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
19 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
20 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
21 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 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
22 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
23 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
24 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
25 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 Not yet recruiting NCT03687476 Phase 2 VTS-270
26 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
27 A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Terminated NCT02193867 Phase 2 Sebelipase Alfa
28 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
29 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
30 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
31 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
32 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) Recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
33 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
34 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
35 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
36 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
37 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
38 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
39 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
40 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Completed NCT03883750
41 Positron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
42 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544
43 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
44 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
45 Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases Recruiting NCT02000310
46 Biomarkers for Inborn Errors of Metabolism: An International, Multicenter, Observational, Longitudinal Protocol Recruiting NCT04098198
47 Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
48 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
49 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Active, not recruiting NCT01306604
50 Early Access Program With Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US Available NCT04316637 Arimoclomol

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, Lung, Bone, Brain, Spleen, Bone Marrow, Eye

Publications for Niemann-Pick Disease

Articles related to Niemann-Pick Disease:

(show top 50) (show all 1696)
# Title Authors PMID Year
Acid Sphingomyelinase Deficiency 61 6
20301544 2006
Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease. 61
32371106 2020
Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C. 61
32487688 2020
Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B). 61
32311413 2020
Recent advances in the treatment of Niemann pick disease type C: A mini-review. 61
32428546 2020
Characterization of Dysphagia and Longitudinal Changes in Swallowing Function in Adults with Niemann-Pick Disease Type C Treated with Miglustat. 61
32562141 2020
The lysosome: A potential juncture between SARS-CoV-2 infectivity and Niemann-Pick disease type C, with therapeutic implications. 61
32367579 2020
Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2. 61
32544384 2020
Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. 61
32073546 2020
Iron chelation by deferiprone does not rescue the Niemann-Pick Disease Type C1 mouse model. 61
32100150 2020
Niemann-Pick Disease Type B in Traumatic Splenic Rupture. 61
32541392 2020
Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C. 61
32178982 2020
Mass spectrometry imaging and LC-MS reveal decreased cerebellar phosphoinositides in Niemann-Pick type C1-null mice. 61
32371566 2020
Sex-opposed inflammatory effects of 27-hydroxycholesterol are mediated via differences in estrogen signaling. 61
32472585 2020
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. 61
32134517 2020
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management. 61
32375665 2020
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease. 61
31707734 2020
A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C. 61
32183505 2020
Pharmacokinetics and distribution of 2-hydroxypropyl-β-cyclodextrin following a single intrathecal dose to cats. 61
31707730 2020
Intertwined mechanisms define transport of anti-ICAM nanocarriers across the endothelium and brain delivery of a therapeutic enzyme. 61
32389778 2020
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry. 61
32334605 2020
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study. 61
32324281 2020
Anesthetic management of pediatric patients with Niemann-Pick disease type C for intrathecal 2-hydroxypropyl-β-cyclodextrin injection. 61
32349180 2020
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity. 61
32234823 2020
Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease. 61
32272755 2020
Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene. 61
32347185 2020
An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene. 61
32114296 2020
Acid sphingomyelinase deficiency exacerbates LPS-induced experimental periodontitis. 61
31883406 2020
Ultrastructure of spinal anterior horn cells in human Niemann-Pick type C (NPC) patient and mouse model of NPC with retroposon insertion in NPC1 genes. 61
32342600 2020
Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison. 61
31933160 2020
Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry. 61
32295281 2020
Discovery of novel biomarkers for atherosclerotic aortic aneurysm through proteomics-based assessment of disease progression. 61
32286426 2020
Retinal axonal degeneration in Niemann-Pick type C disease. 61
32222928 2020
Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1. 61
32244519 2020
Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1. 61
31996359 2020
Accumulation of sphingomyelin in Niemann-Pick disease type C cells disrupts Rab9-dependent vesicular trafficking of cholesterol. 61
31489965 2020
Niemann-Pick disease with isolated leukemic nonnodal mantle cell lymphoma of the spleen. 61
32135022 2020
Monitoring the itinerary of lysosomal cholesterol in Niemann-Pick Type C1-deficient cells after cyclodextrin treatment. 61
31988149 2020
Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients. 61
32292456 2020
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C. 61
31639880 2020
Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner. 61
31668555 2020
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease. 61
32098196 2020
Pediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other. 61
31843253 2020
An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase. 61
31941852 2020
Depletion of Host and Viral Sphingomyelin Impairs Influenza Virus Infection. 61
32425895 2020
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel. 61
32071839 2020
Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses. 61
31937940 2020
New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation. 61
28865947 2020
Novel compound heterozygous mutation in NPC1 gene cause Niemann-Pick disease type C with juvenile onset. 61
32482919 2020
Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology. 61
31999726 2020

Variations for Niemann-Pick Disease

ClinVar genetic disease variations for Niemann-Pick Disease:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APBB1 , SMPD1 NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)SNV Pathogenic 2980 rs120074117 11:6415434-6415434 11:6394204-6394204
2 SMPD1 NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)SNV Pathogenic 2989 rs120074124 11:6413206-6413206 11:6391976-6391976
3 SMPD1 NM_000543.5(SMPD1):c.996del (p.Phe333fs)deletion Pathogenic 2990 rs387906289 11:6413286-6413286 11:6392056-6392056
4 SMPD1 NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)SNV Pathogenic 2992 rs120074126 11:6414850-6414850 11:6393620-6393620
5 APBB1 , SMPD1 NM_000543.5(SMPD1):c.1826_1828GCC[1] (p.Arg610del)short repeat Pathogenic 198093 rs120074118 11:6415767-6415769 11:6394537-6394539
6 SMPD1 NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp)SNV Pathogenic 203427 rs797044800 11:6413371-6413371 11:6392141-6392141
7 SMPD1 NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)SNV Pathogenic 203428 rs747342458 11:6415675-6415675 11:6394445-6394445
8 SMPD1 NM_000543.5(SMPD1):c.874C>A (p.Gln292Lys)SNV Pathogenic 203426 rs797044799 11:6413169-6413169 11:6391939-6391939
9 SMPD1 NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)SNV Pathogenic 203425 rs797044798 11:6412887-6412887 11:6391657-6391657
10 SMPD1 NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)SNV Pathogenic/Likely pathogenic 93315 rs182812968 11:6415211-6415211 11:6393981-6393981
11 SMPD1 NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)SNV Likely pathogenic 203424 rs797044797 11:6412711-6412711 11:6391481-6391481
12 SMPD1 NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)deletion Conflicting interpretations of pathogenicity 256590 rs775860642 11:6411931-6411936 11:6390701-6390706
13 SMPD1 NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Val36_Leu37insAlaLeu)insertion Uncertain significance 305194 rs1554933800 11:6411930-6411931 11:6390700-6390701
14 SMPD1 NM_000543.5(SMPD1):c.1522G>C (p.Gly508Arg)SNV Benign 203423 rs1050239 11:6415463-6415463 11:6394233-6394233
15 SMPD1 NM_000543.5(SMPD1):c.971C>T (p.Thr324Ile)SNV Benign 203422 rs1050233 11:6413266-6413266 11:6392036-6392036

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
2 11.54 TLR4 MBP MAG IL6
Show member pathways
10.47 NPC2 NPC1
5 10.16 MBP MAG

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 space GO:0005615 9.97 SMPD1 PSAP NPC2 IL6 IGF2R GBA
2 perinuclear region of cytoplasm GO:0048471 9.91 TLR4 NPC1 M6PR LAMP1 IGF2R APOD
3 endosome GO:0005768 9.88 TLR4 SMPD1 NPC1 M6PR LAMP1 IGF2R
4 late endosome GO:0005770 9.67 PSAP M6PR LAMP1 IGF2R
5 lysosomal lumen GO:0043202 9.46 SMPD1 PSAP NPC2 GBA
6 lysosomal membrane GO:0005765 9.43 PSAP NPC1 M6PR LAMP1 IGF2R GBA
7 lysosome GO:0005764 9.28 SMPD1 PSAP NPC2 NPC1 M6PR LAMP1
8 compact myelin GO:0043218 9.26 MBP MAG

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.93 TLR4 MBP IL6 CHIT1 CCL18
2 neutrophil degranulation GO:0043312 9.92 PSAP NPC2 LAMP1 IGF2R CHIT1
3 lipid metabolic process GO:0006629 9.76 UGT8 UGCG PSAP NPC2 NPC1L1 NPC1
4 steroid metabolic process GO:0008202 9.73 NPC2 NPC1L1 NPC1 GBA
5 lipid transport GO:0006869 9.72 PSAP NPC2 NPC1L1 NPC1 APOD
6 sphingolipid metabolic process GO:0006665 9.67 UGT8 UGCG PSAP GBA
7 cholesterol metabolic process GO:0008203 9.65 SMPD1 NPC2 NPC1L1 NPC1 GBA
8 cholesterol transport GO:0030301 9.58 NPC2 NPC1L1 NPC1
9 positive regulation of chemokine (C-X-C motif) ligand 2 production GO:2000343 9.56 TLR4 MBP
10 intracellular cholesterol transport GO:0032367 9.55 NPC2 NPC1
11 positive regulation of chemokine (C-C motif) ligand 2 secretion GO:1904209 9.51 TLR4 MBP
12 cornified envelope assembly GO:1903575 9.49 UGCG PSAP
13 intestinal lipid absorption GO:0098856 9.48 UGCG NPC1L1
14 termination of signal transduction GO:0023021 9.46 SMPD1 GBA
15 lysosomal transport GO:0007041 9.26 PSAP NPC1 M6PR IGF2R
16 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 9.5 SMPD1 GBA CHIT1
2 cholesterol binding GO:0015485 9.33 NPC2 NPC1 APOD
3 retromer complex binding GO:1905394 9.26 M6PR IGF2R
4 ganglioside GT1b binding GO:1905576 8.96 PSAP MAG
5 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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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