MCID: NMN002
MIFTS: 66

Niemann-Pick Disease

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

Aliases & Classifications for Niemann-Pick Disease

MalaCards integrated aliases for Niemann-Pick Disease:

Name: Niemann-Pick Disease 38 12 72 50 25 51 14
Niemann-Pick Disease Type a 12 50 24
Niemann-Pick Disease Type B 12 50 24
Niemann-Pick Disease Type C 12 23 24
Sphingomyelin Lipidosis 12 50 25
Niemann-Pick Diseases 52 42 69
Sphingomyelin/cholesterol Lipidosis 25 29
Juvenile Niemann-Pick Disease 23 24
Niemann-Pick Disease, Type C 42 69
Sphingomyelinase Deficiency 50 25
Lipoid Histiocytosis 12 69
Niemann-Pick Disease with Cholesterol Esterification Block 12
Niemann-Pick Disease, Subacute Juvenile Form 12
Sphingomyelinase Deficiency Disease 12
Neuronal Cholesterol Lipidosis 25
Niemann-Pick Disease, Type a 69
Niemann-Pick Disease, Type B 69
Type a Niemann-Pick Disease 12
Niemann Pick Disease Type B 50
Lipid Histiocytosis 25
Neuronal Lipidosis 25
Niemann-Pick 72
Npd Type a 24
Npd Type B 24
Npd 25

Classifications:



Summaries for Niemann-Pick Disease

NINDS : 51 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, occurs in early infancy and is seen primarily in Jewish families. It is characterized by progressive 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  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.  Individuals wit Type C who share a common ancestral background in Nova Scotia were previously referred to as Type D. 

MalaCards based summary : Niemann-Pick Disease, also known as niemann-pick disease type a, is related to niemann-pick disease, type b and niemann-pick disease, type c1, and has symptoms including dysphagia, dystonia and chorea. An important gene associated with Niemann-Pick Disease is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways/superpathways are Metabolism and Lipoprotein metabolism. The drugs Miglustat and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

NIH Rare Diseases : 50 niemann-pick disease (npd) is a group of inheritedmetabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain. symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen. inheritance is autosomal recessive. niemann-pick disease is divided into four main types according to the altered (mutated) gene and the signs and symptoms:type a, caused by mutations in the smpd1 gene. it is the most severe form, occurs in early infancy and is seen primarily in jewish families. type b , caused by mutations in the smpd1 gene. usually occurs in children, and affects the liver, spleen and lungs (visceral form), but generally does not affect the brain. type c1, caused by mutations in the npc1 gene. may occur at any age and affect the brain and the viscera. type c2, caused by homozygous mutation in the npc2 gene. similar to type c1, but more severe, and mostly affecting the lungs. some classify type a and b as "acid sphingomyelinase (asm) deficiency". np type d is now considered as type c (when affected people are from nova scotia, canada); other rarer types have being described.there is currently no effective treatment for type a. bone marrow transplantation, enzyme replacement and gene therapies may be helpful for people with type b.  a medication called miglustat has been shown to stabilize certain neurological symptoms in people with type c. currently other treatments are under clinical investigation. last updated: 8/11/2017

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.

GeneReviews: NBK1296

Related Diseases for Niemann-Pick Disease

Diseases in the Niemann-Pick Disease family:

Niemann-Pick Disease, Type a Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type C2 Niemann-Pick Disease, Type C1

Diseases related to Niemann-Pick Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
id Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type b 33.1 CHIT1 MAG MBP SMPD1 UGT8
2 niemann-pick disease, type c1 12.8
3 niemann-pick disease, type a 12.8
4 niemann-pick disease, type c2 12.7
5 niemann-pick disease type c, juvenile neurologic onset 12.2
6 niemann-pick disease type c, severe perinatal form 12.1
7 niemann-pick disease type c, late infantile neurologic onset 12.1
8 niemann-pick disease type c, severe early infantile neurologic onset 12.1
9 niemann-pick disease type c, adult neurologic onset 12.1
10 sphingolipidosis 11.4
11 pick disease 11.3
12 sea-blue histiocyte disease 11.1
13 narcissistic personality disorder 10.8
14 limbic encephalitis with nmda receptor antibodies 10.7 NPC1 NPC2
15 congenital enterovirus infection 10.7 NPC1 NPC2
16 mucopolysaccharidosis type 2, attenuated form 10.7 NPC1 NPC2
17 mucopolysaccharidosis type 2, severe form 10.7 NPC1 NPC2
18 pulmonary fungal infections in patients deemed at risk 10.7 NPC1 NPC2
19 ataxia with vitamin e deficiency 10.7 NPC1 SMPD1
20 acid sphingomyelinase deficiency 10.6
21 splenic manifestation of prolymphocytic leukemia 10.5 NPC1 NPC2 SMPD1
22 chondrodysplasia punctata, unclassified 10.5 CHIT1 GBA
23 neuronitis 10.5
24 pediatric supratentorial ependymoma 10.5 NPC1 NPC2 SMPD1
25 gaucher disease, type ii 10.4 GBA PSAP
26 gaucher disease, type iii 10.4 GBA PSAP
27 folliculitis 10.4 GBA SMPD1
28 hepatitis 10.3
29 histiocytosis 10.3
30 cardiomyopathy, dilated, 1u 10.3 NPC1 NPC1L1 NPC2 SMPD1
31 posterior corneal pigmentation 10.3 PSAP TLR4
32 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 10.2 M6PR PSAP SMPD1
33 lysosomal storage disease 10.2
34 liver disease 10.1
35 cerebritis 10.1
36 splenomegaly 10.1
37 graves disease 1 10.1 CHIT1 MBP PSAP
38 gaucher disease, type i 10.1 CHIT1 GBA PSAP UGCG
39 dysphagia 10.0
40 epilepsy 10.0
41 myoclonus 10.0
42 leukemia 10.0
43 tremor 10.0
44 lung disease 10.0
45 osteomyelitis 10.0
46 hepatocellular carcinoma 10.0
47 pulmonary alveolar proteinosis 10.0
48 crohn's disease 10.0
49 juvenile xanthogranuloma 10.0
50 glycogen storage disease 10.0

Graphical network of the top 20 diseases related to Niemann-Pick Disease:



Diseases related to Niemann-Pick Disease

Symptoms & Phenotypes for Niemann-Pick Disease

Human phenotypes related to Niemann-Pick Disease:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 dysphagia 32 frequent (33%) HP:0002015
2 dystonia 32 hallmark (90%) HP:0001332
3 chorea 32 occasional (7.5%) HP:0002072
4 dysarthria 32 frequent (33%) HP:0001260
5 ataxia 32 hallmark (90%) HP:0001251
6 tremor 32 occasional (7.5%) HP:0001337
7 cognitive impairment 32 hallmark (90%) HP:0100543
8 hepatomegaly 32 hallmark (90%) HP:0002240
9 splenomegaly 32 frequent (33%) HP:0001744
10 jaundice 32 hallmark (90%) HP:0000952
11 seizures 32 occasional (7.5%) HP:0001250
12 global developmental delay 32 hallmark (90%) HP:0001263
13 ascites 32 occasional (7.5%) HP:0001541
14 dysphonia 32 frequent (33%) HP:0001618
15 developmental regression 32 hallmark (90%) HP:0002376
16 gait disturbance 32 hallmark (90%) HP:0001288
17 sleep disturbance 32 frequent (33%) HP:0002360
18 abnormal pyramidal signs 32 occasional (7.5%) HP:0007256
19 aplasia/hypoplasia of the abdominal wall musculature 32 frequent (33%) HP:0010318

UMLS symptoms related to Niemann-Pick Disease:


constipation, vomiting, muscle weakness, dyspnea

MGI Mouse Phenotypes related to Niemann-Pick Disease:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 APOD GBA M6PR MAG MBP NEGR1
2 homeostasis/metabolism MP:0005376 10.24 UGCG UGT8 APOD GBA LCAT M6PR
3 growth/size/body region MP:0005378 10.23 NPC1L1 NPC2 PSAP SMPD1 TLR4 UGCG
4 cellular MP:0005384 10.13 GBA M6PR MBP NPC1 NPC2 PSAP
5 cardiovascular system MP:0005385 10.1 GBA LCAT NEGR1 NPC1 NPC2 PSAP
6 hematopoietic system MP:0005397 10.1 GBA LCAT MAG MBP NEGR1 NPC1
7 immune system MP:0005387 10.06 CHIT1 GBA MAG MBP NEGR1 NPC1
8 liver/biliary system MP:0005370 9.91 GBA LCAT NEGR1 NPC1 NPC1L1 NPC2
9 mortality/aging MP:0010768 9.9 APOD GBA M6PR MBP NPC1 NPC2
10 hearing/vestibular/ear MP:0005377 9.83 APOD MAG MBP PSAP TLR4
11 nervous system MP:0003631 9.7 UGT8 APOD GBA MAG MBP NPC1
12 respiratory system MP:0005388 9.1 GBA NPC1 NPC2 PSAP SMPD1 TLR4

Drugs & Therapeutics for Niemann-Pick Disease

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

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

Interventional clinical trials:

(show all 36)

id Name Status NCT ID Phase Drugs
1 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
4 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
5 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
6 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
7 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
8 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
9 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
10 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
11 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
12 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
13 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
14 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
15 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
16 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
17 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
18 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
19 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
20 Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
21 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1 OGT918
22 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
23 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) Recruiting NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
24 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
25 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
26 Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
27 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
28 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
29 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030
30 PET Scan of Brain Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
31 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
32 Biomarker for Niemann Pick Type C Disease Recruiting NCT01306604
33 Investigating Lysosomal Storage Diseases in Minority Groups Recruiting NCT02120235
34 Molecular and Cellular Mechanisms of Lysosomal Storage Diseases Recruiting NCT02000310
35 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
36 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 disease, type c

Genetic Tests for Niemann-Pick Disease

Genetic tests related to Niemann-Pick Disease:

id Genetic test Affiliating Genes
1 Sphingomyelin/cholesterol Lipidosis 29
2 Niemann-Pick Disease Type C 24

Anatomical Context for Niemann-Pick Disease

MalaCards organs/tissues related to Niemann-Pick Disease:

39
Liver, Bone, Brain, Bone Marrow, Lung, Spleen, Eye

Publications for Niemann-Pick Disease

Articles related to Niemann-Pick Disease:

(show top 50) (show all 629)
id Title Authors Year
1
The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran. ( 28883878 )
2017
2
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C. ( 28092091 )
2017
3
Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation - Analysis of pluripotency and neuronal differentiation. ( 28413817 )
2017
4
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult. ( 28421028 )
2017
5
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 28414792 )
2017
6
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study. ( 28222799 )
2017
7
Characterization of cholesterol homeostasis in sphingosine-1-phosphate lyase-deficient fibroblasts reveals a Niemann-Pick disease type C-like phenotype with enhanced lysosomal Ca(2+) storage. ( 28262793 )
2017
8
Utility of rapid whole exome sequencing in the diagnosis of neonatal Niemann Pick disease type C presenting with fetal hydrops and liver failure. ( 28802248 )
2017
9
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. ( 28383485 )
2017
10
Interstitial Lung Disease Associated with Adult Niemann-Pick Disease Type B. ( 28601876 )
2017
11
Neurometabolic disease: New drug slows Niemann-Pick disease. ( 28849784 )
2017
12
Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. ( 28480683 )
2017
13
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. ( 28328115 )
2017
14
Analytical Characterization of Methyl-I^-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells. ( 28631941 )
2017
15
New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation. ( 28865947 )
2017
16
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): findings from the International NPC Registry. ( 28914127 )
2017
17
Patient with Niemann-Pick disease type C: over 20 years' follow-up. ( 28830896 )
2017
18
Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat. ( 28710748 )
2017
19
Abnormal dopamine transporter imaging in adult-onset Niemann-Pick disease type C. ( 28063684 )
2017
20
Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein. ( 28465104 )
2017
21
The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. ( 27940359 )
2017
22
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C. ( 28387450 )
2017
23
Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice. ( 28606376 )
2017
24
Niemann-Pick disease type C in the newborn period: a single-center experience. ( 28951965 )
2017
25
Intrathecal 2-hydroxypropyl-I^-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. ( 28803710 )
2017
26
Types A and B Niemann-Pick disease. ( 28164782 )
2017
27
Cognition and anatomy of adult Niemann-Pick disease type C: Insights for the Alzheimer field. ( 28662611 )
2017
28
Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member. ( 28808920 )
2017
29
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C). ( 27449637 )
2016
30
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3I^,5I+,6I^-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations. ( 26790753 )
2016
31
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C. ( 26910362 )
2016
32
Identification of Two Sulfated Cholesterol Metabolites Found in the Urine of a Patient with Niemann-Pick Disease Type C as Novel Candidate Diagnostic Markers. ( 27900236 )
2016
33
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. ( 27338287 )
2016
34
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target. ( 26986514 )
2016
35
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages. ( 27993458 )
2016
36
Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A. ( 27484861 )
2016
37
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. ( 26953272 )
2016
38
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C. ( 27193329 )
2016
39
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. ( 27408787 )
2016
40
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C. ( 27271431 )
2016
41
Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C. ( 26939636 )
2016
42
Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses. ( 26851525 )
2016
43
Niemann-Pick Disease Type B in a 21 Year Old Male. ( 27277377 )
2016
44
Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review. ( 27164983 )
2016
45
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family. ( 27549128 )
2016
46
Anesthetic Management in a Child With Niemann-Pick Disease. ( 28203333 )
2016
47
A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome. ( 27181747 )
2016
48
Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1. ( 28933409 )
2016
49
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report. ( 27599728 )
2016
50
Otorhinolaryngological, audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C. ( 26746602 )
2016

Variations for Niemann-Pick Disease

ClinVar genetic disease variations for Niemann-Pick Disease:

6 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Pathogenic rs80358257 GRCh37 Chromosome 18, 21118528: 21118528
2 SMPD1 NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs120074117 GRCh37 Chromosome 11, 6415434: 6415434
3 SMPD1 NM_000543.4(SMPD1): c.1735G> A (p.Gly579Ser) single nucleotide variant Pathogenic rs120074119 GRCh37 Chromosome 11, 6415676: 6415676
4 SMPD1 NM_000543.4(SMPD1): c.1314C> A (p.Ser438Arg) single nucleotide variant Pathogenic rs267607073 GRCh37 Chromosome 11, 6414897: 6414897
5 SMPD1 NM_000543.4(SMPD1): c.788T> A (p.Leu263Ter) single nucleotide variant Pathogenic rs120074120 GRCh37 Chromosome 11, 6413083: 6413083
6 SMPD1 SMPD1, 2-BP DEL, LEU178FS deletion Pathogenic
7 SMPD1 NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile) single nucleotide variant Pathogenic rs120074121 GRCh37 Chromosome 11, 6414506: 6414506
8 SMPD1 NM_000543.4(SMPD1): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs120074122 GRCh37 Chromosome 11, 6413025: 6413025
9 SMPD1 NM_000543.4(SMPD1): c.1154A> G (p.Asn385Ser) single nucleotide variant Pathogenic rs120074123 GRCh37 Chromosome 11, 6414508: 6414508
10 SMPD1 NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro) single nucleotide variant Pathogenic rs120074124 GRCh37 Chromosome 11, 6413206: 6413206
11 SMPD1 NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs) deletion Pathogenic rs387906289 GRCh37 Chromosome 11, 6413291: 6413291
12 SMPD1 NM_000543.4(SMPD1): c.1177T> G (p.Trp393Gly) single nucleotide variant Pathogenic rs120074125 GRCh37 Chromosome 11, 6414531: 6414531
13 SMPD1 NM_000543.4(SMPD1): c.1267C> T (p.His423Tyr) single nucleotide variant Pathogenic rs120074126 GRCh37 Chromosome 11, 6414850: 6414850
14 SMPD1 NM_000543.4(SMPD1): c.1327C> T (p.Arg443Ter) single nucleotide variant Pathogenic rs120074127 GRCh37 Chromosome 11, 6414910: 6414910
15 SMPD1 NM_000543.4(SMPD1): c.880C> A (p.Gln294Lys) single nucleotide variant Pathogenic rs120074128 GRCh37 Chromosome 11, 6413175: 6413175
16 SMPD1 NM_000543.4(SMPD1): c.1451C> A (p.Ala484Glu) single nucleotide variant Pathogenic rs267607075 GRCh37 Chromosome 11, 6415236: 6415236
17 SMPD1 NM_000543.4(SMPD1): c.1406A> C (p.Tyr469Ser) single nucleotide variant Pathogenic rs267607074 GRCh37 Chromosome 11, 6415191: 6415191
18 SMPD1 NM_000543.4(SMPD1): c.1092-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs398123474 GRCh37 Chromosome 11, 6414445: 6414445
19 SMPD1 NM_000543.4(SMPD1): c.1420_1421delCT (p.Leu474Glufs) deletion Pathogenic rs398123476 GRCh37 Chromosome 11, 6415205: 6415206
20 SMPD1 NM_000543.4(SMPD1): c.1624C> T (p.Arg542Ter) single nucleotide variant Pathogenic rs398123478 GRCh37 Chromosome 11, 6415565: 6415565
21 SMPD1 NM_000543.4(SMPD1): c.757G> C (p.Asp253His) single nucleotide variant Pathogenic rs398123479 GRCh37 Chromosome 11, 6413052: 6413052
22 SMPD1 NM_000543.4(SMPD1): c.842_849dupTCCCCGCA (p.His284Serfs) duplication Pathogenic rs281860677 GRCh37 Chromosome 11, 6413137: 6413144
23 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh37 Chromosome 11, 6413034: 6413034
24 SMPD1 NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg) single nucleotide variant Pathogenic rs727504166 GRCh38 Chromosome 11, 6391540: 6391540
25 SMPD1 NM_000543.4(SMPD1): c.354delC (p.Ile119Serfs) deletion Pathogenic/Likely pathogenic rs727504165 GRCh37 Chromosome 11, 6412649: 6412649
26 SMPD1 NM_000543.4(SMPD1): c.573delT (p.Ser192Alafs) deletion Pathogenic rs727504167 GRCh37 Chromosome 11, 6412868: 6412868
27 SMPD1 NM_000543.4(SMPD1): c.785_807del23 (p.Leu262Argfs) deletion Pathogenic rs794727252 GRCh37 Chromosome 11, 6413080: 6413102
28 SMPD1 NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs) insertion Pathogenic rs756366019 GRCh37 Chromosome 11, 6412853: 6412854
29 SMPD1 NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del) deletion Pathogenic rs120074118 GRCh37 Chromosome 11, 6415770: 6415772
30 SMPD1 NM_000543.4(SMPD1): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs797044797 GRCh38 Chromosome 11, 6391481: 6391481
31 SMPD1 NM_000543.4(SMPD1): c.592G> C (p.Ala198Pro) single nucleotide variant Pathogenic rs797044798 GRCh38 Chromosome 11, 6391657: 6391657
32 SMPD1 NM_000543.4(SMPD1): c.1076C> A (p.Ala359Asp) single nucleotide variant Pathogenic rs797044800 GRCh38 Chromosome 11, 6392141: 6392141
33 SMPD1 NM_000543.4(SMPD1): c.1734G> C (p.Lys578Asn) single nucleotide variant Pathogenic rs747342458 GRCh38 Chromosome 11, 6394445: 6394445
34 SMPD1 NM_000543.4(SMPD1): c.874C> A (p.Gln292Lys) single nucleotide variant Pathogenic rs797044799 GRCh38 Chromosome 11, 6391939: 6391939
35 SMPD1 NM_001007593.2(SMPD1): c.518_519insT (p.Ser174Ilefs) insertion Pathogenic rs875989833 GRCh37 Chromosome 11, 6412816: 6412817
36 SMPD1 NM_001007593.2(SMPD1): c.562_563insC (p.Lys188Thrfs) insertion Pathogenic rs875989835 GRCh37 Chromosome 11, 6412860: 6412861
37 SMPD1 NM_001007593.2(SMPD1): c.792delG (p.Leu265Trpfs) deletion Pathogenic rs875989832 GRCh38 Chromosome 11, 6391860: 6391860
38 SMPD1 NM_001007593.2(SMPD1): c.949G> A (p.Val317Met) single nucleotide variant Pathogenic rs875989837 GRCh38 Chromosome 11, 6392017: 6392017
39 SMPD1 NM_001007593.2(SMPD1): c.1488_1500delCCGTGTGTACCAA (p.Tyr496Terfs) deletion Pathogenic rs875989834 GRCh38 Chromosome 11, 6394202: 6394214
40 SMPD1 NM_001007593.2(SMPD1): c.1495T> A (p.Tyr499Asn) single nucleotide variant Pathogenic rs771336819 GRCh38 Chromosome 11, 6394209: 6394209
41 SMPD1 NM_001007593.2(SMPD1): c.1670T> C (p.Leu557Pro) single nucleotide variant Pathogenic rs875989836 GRCh38 Chromosome 11, 6394384: 6394384
42 SMPD1 NM_000543.4(SMPD1): c.114delG (p.Leu39Trpfs) deletion Pathogenic/Likely pathogenic rs886043098 GRCh37 Chromosome 11, 6411942: 6411942
43 SMPD1 NM_000543.4(SMPD1): c.1785_1786delTT (p.Ala597Profs) deletion Pathogenic/Likely pathogenic rs1057516403 GRCh38 Chromosome 11, 6394496: 6394497
44 SMPD1 NM_000543.4(SMPD1): c.1556A> G (p.Tyr519Cys) single nucleotide variant Pathogenic rs371837210 GRCh38 Chromosome 11, 6394267: 6394267

Expression for Niemann-Pick Disease

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

Pathways for Niemann-Pick Disease

GO Terms for Niemann-Pick Disease

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 APOD CCL18 CHIT1 LCAT NEGR1 NPC1
2 extracellular space GO:0005615 9.86 APOD CCL18 CHIT1 GBA LCAT NPC2
3 lysosomal membrane GO:0005765 9.67 GBA M6PR NPC1 PSAP
4 lysosomal lumen GO:0043202 9.26 GBA NPC2 PSAP SMPD1
5 lysosome GO:0005764 9.17 CHIT1 GBA M6PR NPC1 NPC2 PSAP
6 compact myelin GO:0043218 8.85 MAG

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.78 APOD NPC1 NPC1L1 SMPD1
2 lipid transport GO:0006869 9.71 APOD NPC1 NPC1L1 PSAP
3 steroid metabolic process GO:0008202 9.67 LCAT NPC1 NPC1L1 NPC2
4 cholesterol homeostasis GO:0042632 9.63 LCAT NPC1 NPC2
5 cholesterol metabolic process GO:0008203 9.62 LCAT NPC1 NPC1L1 NPC2
6 sphingolipid metabolic process GO:0006665 9.56 GBA PSAP UGCG UGT8
7 negative regulation of interleukin-6 production GO:0032715 9.55 GBA TLR4
8 ceramide biosynthetic process GO:0046513 9.54 GBA SMPD1
9 low-density lipoprotein particle clearance GO:0034383 9.52 NPC1 NPC2
10 cholesterol efflux GO:0033344 9.51 NPC1 NPC2
11 positive regulation of protein dephosphorylation GO:0035307 9.49 GBA SMPD1
12 cholesterol transport GO:0030301 9.46 LCAT NPC1 NPC1L1 NPC2
13 termination of signal transduction GO:0023021 9.43 GBA SMPD1
14 glycosphingolipid metabolic process GO:0006687 9.35 GBA PSAP SMPD1 UGCG UGT8
15 lipid metabolic process GO:0006629 9.28 APOD GBA LCAT NPC1 NPC1L1 NPC2

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 9.33 CHIT1 GBA SMPD1
2 lipid transporter activity GO:0005319 9.26 APOD NPC1
3 cholesterol binding GO:0015485 9.13 APOD NPC1 NPC2
4 ganglioside GT1b binding GO:1905576 8.62 MAG PSAP

Sources for Niemann-Pick Disease

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