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 73 20 43 53 15 37 39 17
Sphingomyelin/cholesterol Lipidosis 43 29 6
Niemann-Pick Diseases 54 44 70
Sphingomyelin Lipidosis 12 43
Lipoid Histiocytosis 12 70
Sphingomyelinase Deficiency Disease 12
Neuronal Cholesterol Lipidosis 43
Niemann-Pick Disease, Type a 70
Sphingomyelinase Deficiency 43
Lipid Histiocytosis 43
Neuronal Lipidosis 43
Npd 43


External Ids:

Disease Ontology 12 DOID:14504
MeSH 44 D009542
NCIt 50 C61269
SNOMED-CT 67 58459009
ICD10 32 E75.24
UMLS 70 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-Infective 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 : 73 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 369)
# 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 APBB1
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 32.1 UGCG SMPD1 PSAP NPC2 NPC1 M6PR
13 lipid storage disease 31.4 UGCG TLR4 SMPD1 PSAP NPC2 NPC1
14 inherited metabolic disorder 31.2 NPC2 NPC1 IL6 GBA
15 gaucher's disease 31.1 UGCG SMPD1 PSAP NPC2 NPC1 M6PR
16 lysosomal acid lipase deficiency 31.0 SMPD1 NPC2 NPC1 M6PR CHIT1
17 gangliosidosis 31.0 UGCG PSAP CHIT1
18 mucolipidosis ii alpha/beta 30.9 SMPD1 PSAP NPC1 M6PR LAMP1 IGF2R
19 metachromatic leukodystrophy 30.7 UGT8 SMPD1 PSAP NPC2 NPC1 MBP
20 gm1 gangliosidosis 30.7 UGCG SMPD1 PSAP NPC2 NPC1 M6PR
21 chitotriosidase deficiency 30.7 GBA CHIT1
22 alzheimer disease 30.6 PVALB NPC1 IL6 GBA ASAH2 APOD
23 gm1-gangliosidosis, type i 30.6 SMPD1 PSAP NPC2 NPC1 CHIT1
24 sandhoff disease 30.6 UGCG SMPD1 PSAP NPC2 NPC1
25 farber lipogranulomatosis 30.5 UGCG SMPD1 PSAP NPC1 ASAH2
26 neuronal ceroid lipofuscinosis 30.5 SMPD1 PSAP NPC2 NPC1 M6PR LAMP1
27 krabbe disease 30.5 UGT8 UGCG SMPD1 PSAP NPC2 NPC1
28 mucolipidosis 30.5 SMPD1 PSAP NPC2 NPC1 M6PR LAMP1
29 tay-sachs disease 30.4 UGCG SMPD1 PSAP NPC2 NPC1 M6PR
30 mucopolysaccharidosis-plus syndrome 30.4 SMPD1 NPC2 NPC1 M6PR LAMP1 IGF2R
31 fabry disease 30.1 UGCG PSAP M6PR LAMP1 IL6 GBA
32 traumatic brain injury 30.1 MBP IL6
33 pick disease of brain 11.5
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 autosomal recessive disease 10.7
40 dysphagia 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 respiratory failure 10.4
50 neonatal jaundice 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-Infective Agents Phase 4
3 Hypoglycemic Agents Phase 4
4 Anti-Retroviral Agents Phase 4
5 Anti-HIV Agents Phase 4
6 Antiviral Agents Phase 4
7 Glycoside Hydrolase Inhibitors Phase 4
8 Cardiac Glycosides 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
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Antirheumatic Agents Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Alkylating Agents Phase 2, Phase 3
20 Immunologic Factors Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Antilymphocyte Serum Phase 2, Phase 3
23 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
30 Antidotes Phase 1, Phase 2
31 Respiratory System Agents Phase 1, Phase 2
32 Antioxidants Phase 1, Phase 2
33 Protective Agents Phase 1, Phase 2
34 Expectorants Phase 1, Phase 2
35 N-monoacetylcystine Phase 1, Phase 2
36 Histone Deacetylase Inhibitors Phase 1, Phase 2
37 Liver Extracts Phase 1, Phase 2
Bilirubin Phase 1, Phase 2 635-65-4 5280352
39 Antineoplastic Agents, Immunological Phase 2
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106
Lithium carbonate Approved Early Phase 1 554-13-2
42 Psychotropic Drugs Early Phase 1
43 Antidepressive Agents Early Phase 1
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 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
6 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
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 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
17 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
18 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
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 Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick Disease Through the Eyes of Patients and Families Completed NCT04469894
33 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Completed NCT03883750
34 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
35 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
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, Lung, Bone Marrow, Eye, Bone

Publications for Niemann-Pick Disease

Articles related to Niemann-Pick Disease:

(show top 50) (show all 1780)
# Title Authors PMID Year
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models. 6 61 54
18815062 2008
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. 61 54 6
17360762 2007
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. 6 54 61
17011332 2006
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. 6 61 54
16642440 2006
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease. 6 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. 6 54 61
15877209 2005
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. 61 54 6
15545621 2004
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1. 6 61 54
15221801 2004
Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol. 54 6 61
12607113 2003
Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. 61 6 54
12556236 2003
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. 61 54 6
7762557 1995
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. 61 54 6
1391960 1992
Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. 6 54 61
1618760 1992
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. 61 54 6
1718266 1991
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 61 54 6
2023926 1991
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management. 6 61
32375665 2020
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population. 6 61
31122880 2019
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder. 61 6
31139477 2019
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type. 61 6
28801223 2017
Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease. 6 61
27725636 2016
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. 61 6
27338287 2016
Crystal structure of mammalian acid sphingomyelinase. 6 61
27435900 2016
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. 6 61
25920558 2016
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency). 6 61
25834946 2016
Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A. 61 6
26913189 2015
Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. 6 61
23252888 2013
Cholesterol trapping in Niemann-Pick disease type B fibroblasts can be relieved by expressing the phosphotyrosine binding domain of GULP. 6 61
23415435 2013
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. 6 61
23356216 2013
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. 6 61
22818240 2012
R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease. 6 61
23188845 2012
Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow. 61 6
22796693 2012
Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease. 61 6
23430884 2012
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. 61 6
20386867 2010
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. 61 6
19405096 2009
Carboxyl-terminal disulfide bond of acid sphingomyelinase is critical for its secretion and enzymatic function. 6 61
18052040 2007
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. 6 61
17876723 2007
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. 6 61
16434659 2006
A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate. 61 6
16151905 2005
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. 6 61
15241805 2004
Ocular manifestations of Niemann-Pick disease type B. 61 6
15234149 2004
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. 6 61
14681755 2003
Growth restriction in children with type B Niemann-Pick disease. 61 6
12712061 2003
The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B. 61 6
12694237 2003
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. 61 6
12369017 2002
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. 6 54
9266408 1997
Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X. 6 61
8680412 1995
Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. 61 6
8401540 1993
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease. 6
30788890 2019
Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis. 6
29966168 2018
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. 6
29995201 2018

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 Position
1 SMPD1 NM_000543.5(SMPD1):c.874C>A (p.Gln292Lys) SNV Pathogenic 203426 rs797044799 GRCh37: 11:6413169-6413169
GRCh38: 11:6391939-6391939
2 SMPD1 NM_000543.5(SMPD1):c.996del (p.Phe333fs) Deletion Pathogenic 2990 rs387906289 GRCh37: 11:6413286-6413286
GRCh38: 11:6392056-6392056
3 SMPD1 NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) SNV Pathogenic 2984 rs120074120 GRCh37: 11:6413083-6413083
GRCh38: 11:6391853-6391853
4 SMPD1 NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter) SNV Pathogenic 370798 rs120074122 GRCh37: 11:6413025-6413025
GRCh38: 11:6391795-6391795
5 SMPD1 NM_000543.5(SMPD1):c.564del (p.Lys189fs) Deletion Pathogenic 496857 rs756366019 GRCh37: 11:6412854-6412854
GRCh38: 11:6391624-6391624
6 SMPD1 NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) SNV Pathogenic 2982 rs120074119 GRCh37: 11:6415676-6415676
GRCh38: 11:6394446-6394446
7 SMPD1 NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) SNV Pathogenic 370432 rs989639224 GRCh37: 11:6412983-6412983
GRCh38: 11:6391753-6391753
8 SMPD1 NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) SNV Pathogenic 188955 rs370129081 GRCh37: 11:6415746-6415746
GRCh38: 11:6394516-6394516
9 SMPD1 NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) Deletion Pathogenic 195086 rs794727252 GRCh37: 11:6413076-6413098
GRCh38: 11:6391846-6391868
10 SMPD1 NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) SNV Pathogenic 2994 rs120074128 GRCh37: 11:6413175-6413175
GRCh38: 11:6391945-6391945
11 SMPD1 NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) SNV Pathogenic 371341 rs1057517195 GRCh37: 11:6412852-6412852
GRCh38: 11:6391622-6391622
12 SMPD1 NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) SNV Pathogenic 2993 rs120074127 GRCh37: 11:6414910-6414910
GRCh38: 11:6393680-6393680
13 SMPD1 NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) SNV Pathogenic 93318 rs398123478 GRCh37: 11:6415565-6415565
GRCh38: 11:6394335-6394335
14 SMPD1 NM_000543.5(SMPD1):c.193del (p.Ser65fs) Deletion Pathogenic 371218 rs1057517098 GRCh37: 11:6412019-6412019
GRCh38: 11:6390789-6390789
15 SMPD1 NM_000543.5(SMPD1):c.573del (p.Ser192fs) Deletion Pathogenic 167710 rs727504167 GRCh37: 11:6412868-6412868
GRCh38: 11:6391638-6391638
16 SMPD1 NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) SNV Pathogenic 2991 rs120074125 GRCh37: 11:6414531-6414531
GRCh38: 11:6393301-6393301
17 SMPD1 NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) Deletion Pathogenic 189096 rs786204694 GRCh37: 11:6412832-6412833
GRCh38: 11:6391602-6391603
18 SMPD1 NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) SNV Pathogenic 288073 rs372287825 GRCh37: 11:6414460-6414460
GRCh38: 11:6393230-6393230
19 NPC1 NM_000271.5(NPC1):c.99_100del (p.Ala34fs) Deletion Pathogenic 986364 GRCh37: 18:21153496-21153497
GRCh38: 18:23573532-23573533
20 SMPD1 NM_000543.5(SMPD1):c.84del (p.Gly29fs) Deletion Pathogenic 551367 rs750157176 GRCh37: 11:6411908-6411908
GRCh38: 11:6390678-6390678
21 SMPD1 NM_000543.5(SMPD1):c.1092-1G>C SNV Pathogenic 93312 rs398123474 GRCh37: 11:6414445-6414445
GRCh38: 11:6393215-6393215
22 SMPD1 NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) SNV Pathogenic 2989 rs120074124 GRCh37: 11:6413206-6413206
GRCh38: 11:6391976-6391976
23 SMPD1 NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) SNV Pathogenic 203427 rs797044800 GRCh37: 11:6413371-6413371
GRCh38: 11:6392141-6392141
24 SMPD1 NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) SNV Pathogenic 2992 rs120074126 GRCh37: 11:6414850-6414850
GRCh38: 11:6393620-6393620
25 SMPD1 NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) SNV Pathogenic 93315 rs182812968 GRCh37: 11:6415211-6415211
GRCh38: 11:6393981-6393981
26 APBB1 , SMPD1 NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) SNV Pathogenic 2980 rs120074117 GRCh37: 11:6415434-6415434
GRCh38: 11:6394204-6394204
27 SMPD1 NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn) SNV Pathogenic 203428 rs747342458 GRCh37: 11:6415675-6415675
GRCh38: 11:6394445-6394445
28 APBB1 , SMPD1 NM_000543.5(SMPD1):c.1826_1828GCC[1] (p.Arg610del) Microsatellite Pathogenic 198093 rs120074118 GRCh37: 11:6415767-6415769
GRCh38: 11:6394537-6394539
29 SMPD1 NM_000543.5(SMPD1):c.757G>C (p.Asp253His) SNV Pathogenic 93320 rs398123479 GRCh37: 11:6413052-6413052
GRCh38: 11:6391822-6391822
30 SMPD1 NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) SNV Pathogenic 203424 rs797044797 GRCh37: 11:6412711-6412711
GRCh38: 11:6391481-6391481
31 SMPD1 NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) SNV Pathogenic 167709 rs727504166 GRCh37: 11:6412770-6412770
GRCh38: 11:6391540-6391540
32 SMPD1 NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) SNV Pathogenic 189075 rs753508874 GRCh37: 11:6415215-6415215
GRCh38: 11:6393985-6393985
33 SMPD1 NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) SNV Pathogenic/Likely pathogenic 100731 rs587779408 GRCh37: 11:6413034-6413034
GRCh38: 11:6391804-6391804
34 SMPD1 NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) SNV Likely pathogenic 371576 rs750779804 GRCh37: 11:6413043-6413043
GRCh38: 11:6391813-6391813
35 SMPD1 NM_000543.5(SMPD1):c.518dup (p.Ser174fs) Duplication Likely pathogenic 189153 rs786204733 GRCh37: 11:6412809-6412810
GRCh38: 11:6391579-6391580
36 SMPD1 NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) SNV Likely pathogenic 198095 rs769904764 GRCh37: 11:6415433-6415433
GRCh38: 11:6394203-6394203
37 SMPD1 NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) SNV Likely pathogenic 385606 rs763566905 GRCh37: 11:6415212-6415212
GRCh38: 11:6393982-6393982
38 SMPD1 NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) SNV Likely pathogenic 2988 rs120074123 GRCh37: 11:6414508-6414508
GRCh38: 11:6393278-6393278
39 SMPD1 NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) SNV Likely pathogenic 2987 rs120074122 GRCh37: 11:6413025-6413025
GRCh38: 11:6391795-6391795
40 NPC1 NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln) SNV Likely pathogenic 986365 GRCh37: 18:21124366-21124366
GRCh38: 18:23544402-23544402
41 SMPD1 NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) SNV Likely pathogenic 650777 rs201550531 GRCh37: 11:6413349-6413349
GRCh38: 11:6392119-6392119
42 SMPD1 NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) SNV Likely pathogenic 2995 rs267607075 GRCh37: 11:6415236-6415236
GRCh38: 11:6394006-6394006
43 SMPD1 NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) Microsatellite Likely pathogenic 370363 rs1057516432 GRCh37: 11:6414493-6414494
GRCh38: 11:6393263-6393264
44 SMPD1 NM_000543.5(SMPD1):c.1341-1G>T SNV Likely pathogenic 371672 rs1057516854 GRCh37: 11:6415125-6415125
GRCh38: 11:6393895-6393895
45 SMPD1 NM_000543.5(SMPD1):c.1264-1G>T SNV Likely pathogenic 370394 rs1057516454 GRCh37: 11:6414846-6414846
GRCh38: 11:6393616-6393616
46 SMPD1 NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) SNV Likely pathogenic 662004 rs281860665 GRCh37: 11:6415243-6415243
GRCh38: 11:6394013-6394013
47 SMPD1 NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) SNV Likely pathogenic 167712 rs120074117 GRCh37: 11:6415434-6415434
GRCh38: 11:6394204-6394204
48 SMPD1 NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) SNV Conflicting interpretations of pathogenicity 203425 rs797044798 GRCh37: 11:6412887-6412887
GRCh38: 11:6391657-6391657
49 SMPD1 NM_000543.5(SMPD1):c.297C>G (p.Thr99=) SNV Conflicting interpretations of pathogenicity 305196 rs146630228 GRCh37: 11:6412125-6412125
GRCh38: 11:6390895-6390895
50 SMPD1 NM_000543.5(SMPD1):c.441G>A (p.Val147=) SNV Uncertain significance 287033 rs148944108 GRCh37: 11:6412736-6412736
GRCh38: 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 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
Loading form....