MCID: NMN002
MIFTS: 68

Niemann-Pick Disease

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

Aliases & Classifications for Niemann-Pick Disease

MalaCards integrated aliases for Niemann-Pick Disease:

Name: Niemann-Pick Disease 37 12 72 49 24 50 14
Niemann-Pick Disease Type C 12 23 36
Sphingomyelin Lipidosis 12 49 24
Niemann-Pick Diseases 51 41 69
Sphingomyelin/cholesterol Lipidosis 24 28
Niemann-Pick Disease, Type C 41 69
Sphingomyelinase Deficiency 49 24
Niemann-Pick Disease Type a 12 49
Niemann-Pick Disease Type B 12 49
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 24
Juvenile Niemann-Pick Disease 23
Niemann-Pick Disease, Type a 69
Niemann-Pick Disease, Type B 69
Niemann-Picks Disease Type C 51
Type a Niemann-Pick Disease 12
Niemann Pick Disease Type B 49
Lipid Histiocytosis 24
Neuronal Lipidosis 24
Npd 24

Classifications:



Summaries for Niemann-Pick Disease

NINDS : 50 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 c, is related to niemann-pick disease, type c1 and niemann-pick disease, type a, and has symptoms including jaundice, seizures and ataxia. An important gene associated with Niemann-Pick Disease is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways/superpathways are Lysosome and Metabolism. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, and related phenotypes are homeostasis/metabolism and behavior/neurological

Genetics Home Reference : 24 Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.

NIH Rare Diseases : 49 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

GeneReviews: NBK1296

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 118)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type c1 35.0 NPC1 NPC1L1 NPC2
2 niemann-pick disease, type a 34.7 CHIT1 SMPD1 UGT8
3 niemann-pick disease type c, juvenile neurologic onset 34.2 NPC1 NPC2
4 niemann-pick disease type c, severe perinatal form 34.1 NPC1 NPC2
5 niemann-pick disease type c, late infantile neurologic onset 34.1 NPC1 NPC2
6 niemann-pick disease type c, severe early infantile neurologic onset 34.1 NPC1 NPC2
7 niemann-pick disease type c, adult neurologic onset 34.1 NPC1 NPC2
8 acid sphingomyelinase deficiency 33.4 NPC1 SMPD1
9 sphingolipidosis 31.6 ASAH2 GBA NPC1 NPC2 PSAP SMPD1
10 chitotriosidase deficiency 30.4 CHIT1 GBA
11 gaucher's disease 30.0 CHIT1 GBA PSAP UGCG
12 niemann-pick disease, type b 12.9
13 niemann-pick disease, type c2 12.8
14 sea-blue histiocyte disease 11.6
15 narcissistic personality disorder 10.9
16 neuronitis 10.5
17 hepatitis 10.4
18 histiocytosis 10.4
19 aging 10.4
20 infantile liver failure syndrome 1 10.4
21 non-langerhans-cell histiocytosis 10.3 NPC1 NPC2 SMPD1
22 scapuloperoneal myopathy, x-linked dominant 10.3
23 lymphatic system disease 10.3 NPC1 NPC2 SMPD1
24 gaucher disease, type ii 10.3 GBA PSAP
25 lysosomal storage disease 10.3
26 gaucher disease, type iii 10.2 GBA PSAP
27 occupational dermatitis 10.2 GBA SMPD1
28 sandhoff disease 10.2 NPC1 UGCG
29 crohn's disease 10.2
30 liver disease 10.2
31 cerebritis 10.2
32 splenomegaly 10.2
33 glanders 10.2 PSAP TLR4
34 mucolipidosis ii alpha/beta 10.1 M6PR PSAP SMPD1
35 hepatocellular carcinoma 10.1
36 fibrosis of extraocular muscles, congenital, 1 10.1
37 glycogen storage disease 10.1
38 hematopoietic stem cell transplantation 10.1
39 leukemia 10.1
40 osteomyelitis 10.1
41 pulmonary alveolar proteinosis 10.1
42 epilepsy 10.1
43 juvenile xanthogranuloma 10.1
44 lung disease 10.1
45 developmental coordination disorder 10.1
46 dysphagia 10.1
47 myoclonus 10.1
48 tremor 10.1
49 gaucher disease, type i 10.0 CHIT1 GBA PSAP UGCG
50 alzheimer 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:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 jaundice 31 hallmark (90%) HP:0000952
2 seizures 31 occasional (7.5%) HP:0001250
3 ataxia 31 hallmark (90%) HP:0001251
4 dysarthria 31 frequent (33%) HP:0001260
5 global developmental delay 31 hallmark (90%) HP:0001263
6 gait disturbance 31 hallmark (90%) HP:0001288
7 dystonia 31 hallmark (90%) HP:0001332
8 tremor 31 occasional (7.5%) HP:0001337
9 ascites 31 occasional (7.5%) HP:0001541
10 dysphonia 31 frequent (33%) HP:0001618
11 splenomegaly 31 frequent (33%) HP:0001744
12 dysphagia 31 frequent (33%) HP:0002015
13 chorea 31 occasional (7.5%) HP:0002072
14 hepatomegaly 31 hallmark (90%) HP:0002240
15 sleep disturbance 31 frequent (33%) HP:0002360
16 developmental regression 31 hallmark (90%) HP:0002376
17 abnormal pyramidal signs 31 occasional (7.5%) HP:0007256
18 aplasia/hypoplasia of the abdominal wall musculature 31 frequent (33%) HP:0010318
19 cognitive impairment 31 hallmark (90%) HP:0100543

UMLS symptoms related to Niemann-Pick Disease:


dyspnea, muscle weakness, vomiting, constipation

MGI Mouse Phenotypes related to Niemann-Pick Disease:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 APOD ASAH2 GBA HCRT LCAT M6PR
2 behavior/neurological MP:0005386 10.29 APOD GBA HCRT M6PR NEGR1 NPC1
3 growth/size/body region MP:0005378 10.27 M6PR NEGR1 NPC1 NPC1L1 NPC2 PSAP
4 cardiovascular system MP:0005385 10.19 ABCA1 APOD GBA HCRT LCAT NEGR1
5 cellular MP:0005384 10.13 ABCA1 GBA M6PR NPC1 NPC2 PSAP
6 hematopoietic system MP:0005397 10.09 ABCA1 GBA LCAT NEGR1 NPC1 NPC2
7 immune system MP:0005387 10.07 PSAP SMPD1 TLR4 UGT8 ABCA1 CHIT1
8 liver/biliary system MP:0005370 10.02 ABCA1 GBA LCAT NEGR1 NPC1 NPC1L1
9 mortality/aging MP:0010768 10 ABCA1 APOD GBA M6PR NPC1 NPC2
10 nervous system MP:0003631 9.9 ABCA1 APOD GBA HCRT NPC1 NPC2
11 renal/urinary system MP:0005367 9.43 ABCA1 LCAT TLR4 UGCG M6PR PSAP
12 respiratory system MP:0005388 9.23 ABCA1 GBA HCRT NPC1 NPC2 SMPD1

Drugs & Therapeutics for Niemann-Pick Disease

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

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

Interventional clinical trials:

(show all 37)

# 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 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
25 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
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 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
36 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
37 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 28

Anatomical Context for Niemann-Pick Disease

MalaCards organs/tissues related to Niemann-Pick Disease:

38
Liver, Bone, Brain, Bone Marrow, Lung, Spleen, Eye

Publications for Niemann-Pick Disease

Articles related to Niemann-Pick Disease:

(show top 50) (show all 649)
# Title Authors Year
1
Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 29390035 )
2018
2
LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss. ( 29346563 )
2018
3
Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model. ( 29357083 )
2018
4
<i>In Vivo</i> Assessment of Neurodegeneration in Type C Niemann-Pick Disease by IDEAL-IQ. ( 29354005 )
2018
5
Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1. ( 29246094 )
2018
6
Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity. ( 29090525 )
2018
7
Crohn's Disease in Niemann-Pick Disease Type C1: Caught in the Cross-Fire of Host-Microbial Interactions. ( 29411209 )
2018
8
Alteration of cortical excitability and its modulation by Miglustat in Niemann-Pick disease type C. ( 29074317 )
2018
9
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult. ( 28421028 )
2017
10
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. ( 28383485 )
2017
11
Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases. ( 29119141 )
2017
12
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): findings from the International NPC Registry. ( 28914127 )
2017
13
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
14
The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. ( 27940359 )
2017
15
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. ( 29431164 )
2017
16
Niemann-Pick Disease Type C Associated with Fuchs Heterochromic Iridocyclitis. ( 29387679 )
2017
17
Abnormal dopamine transporter imaging in adult-onset Niemann-Pick disease type C. ( 28063684 )
2017
18
2-hydroxypropyl-I^-cyclodextrins and the Blood-Brain Barrier: Considerations for Niemann-Pick Disease Type C1. ( 29065825 )
2017
19
Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice. ( 28606376 )
2017
20
Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease. ( 29249985 )
2017
21
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 28414792 )
2017
22
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
23
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. ( 28328115 )
2017
24
Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein. ( 28465104 )
2017
25
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C. ( 28092091 )
2017
26
Analytical Characterization of Methyl-I^-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells. ( 28631941 )
2017
27
Interstitial Lung Disease Associated with Adult Niemann-Pick Disease Type B. ( 28601876 )
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
Niemann-Pick disease type C in the newborn period: a single-center experience. ( 28951965 )
2017
30
Neurometabolic disease: New drug slows Niemann-Pick disease. ( 28849784 )
2017
31
The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran. ( 28883878 )
2017
32
Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213]. ( 29129654 )
2017
33
Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods. ( 29100954 )
2017
34
Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C. ( 29062912 )
2017
35
Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat. ( 28710748 )
2017
36
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
37
Patient with Niemann-Pick disease type C: over 20 years' follow-up. ( 28830896 )
2017
38
Generation of patient specific human neural stem cells from Niemann-Pick disease type C patient-derived fibroblasts. ( 29156730 )
2017
39
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
40
Aberrant activation of Cdc2/cyclin B1 is involved in initiation of cytoskeletal pathology in murine Niemann-Pick disease type C. ( 29058287 )
2017
41
Corrigendum to "Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child". ( 29085694 )
2017
42
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C. ( 28387450 )
2017
43
Types A and B Niemann-Pick disease. ( 28164782 )
2017
44
Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. ( 28480683 )
2017
45
Niemann-Pick disease type B: HRCT assessment of pulmonary involvement. ( 29340494 )
2017
46
Cognition and anatomy of adult Niemann-Pick disease type C: Insights for the Alzheimer field. ( 28662611 )
2017
47
New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation. ( 28865947 )
2017
48
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
49
Otorhinolaryngological, audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C. ( 26746602 )
2016
50
Anesthetic Management in a Child With Niemann-Pick Disease. ( 28203333 )
2016

Variations for Niemann-Pick Disease

ClinVar genetic disease variations for Niemann-Pick Disease:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMPD1 NM_000543.4(SMPD1): c.1092-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs398123474 GRCh37 Chromosome 11, 6414445: 6414445
2 SMPD1 NM_000543.4(SMPD1): c.1420_1421delCT (p.Leu474Glufs) deletion Pathogenic rs398123476 GRCh37 Chromosome 11, 6415205: 6415206
3 SMPD1 NM_000543.4(SMPD1): c.1624C> T (p.Arg542Ter) single nucleotide variant Pathogenic rs398123478 GRCh37 Chromosome 11, 6415565: 6415565
4 SMPD1 NM_000543.4(SMPD1): c.757G> C (p.Asp253His) single nucleotide variant Pathogenic rs398123479 GRCh37 Chromosome 11, 6413052: 6413052
5 SMPD1 NM_000543.4(SMPD1): c.842_849dupTCCCCGCA (p.His284Serfs) duplication Pathogenic rs281860677 GRCh37 Chromosome 11, 6413137: 6413144
6 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh37 Chromosome 11, 6413034: 6413034
7 SMPD1 NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg) single nucleotide variant Pathogenic rs727504166 GRCh38 Chromosome 11, 6391540: 6391540
8 SMPD1 NM_000543.4(SMPD1): c.354delC (p.Ile119Serfs) deletion Pathogenic/Likely pathogenic rs727504165 GRCh37 Chromosome 11, 6412649: 6412649
9 SMPD1 NM_000543.4(SMPD1): c.573delT (p.Ser192Alafs) deletion Pathogenic rs727504167 GRCh37 Chromosome 11, 6412868: 6412868
10 SMPD1 NM_000543.4(SMPD1): c.785_807del23 (p.Leu262Argfs) deletion Pathogenic rs794727252 GRCh37 Chromosome 11, 6413080: 6413102
11 SMPD1 NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs) insertion Pathogenic rs756366019 GRCh37 Chromosome 11, 6412853: 6412854
12 SMPD1 NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del) deletion Pathogenic rs120074118 GRCh37 Chromosome 11, 6415770: 6415772
13 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Pathogenic rs80358257 GRCh37 Chromosome 18, 21118528: 21118528
14 SMPD1 NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs120074117 GRCh37 Chromosome 11, 6415434: 6415434
15 SMPD1 NM_000543.4(SMPD1): c.1735G> A (p.Gly579Ser) single nucleotide variant Pathogenic rs120074119 GRCh37 Chromosome 11, 6415676: 6415676
16 SMPD1 NM_000543.4(SMPD1): c.1314C> A (p.Ser438Arg) single nucleotide variant Pathogenic rs267607073 GRCh37 Chromosome 11, 6414897: 6414897
17 SMPD1 NM_000543.4(SMPD1): c.788T> A (p.Leu263Ter) single nucleotide variant Pathogenic rs120074120 GRCh37 Chromosome 11, 6413083: 6413083
18 SMPD1 SMPD1, 2-BP DEL, LEU178FS deletion Pathogenic
19 SMPD1 NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile) single nucleotide variant Pathogenic rs120074121 GRCh37 Chromosome 11, 6414506: 6414506
20 SMPD1 NM_000543.4(SMPD1): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs120074122 GRCh37 Chromosome 11, 6413025: 6413025
21 SMPD1 NM_000543.4(SMPD1): c.1154A> G (p.Asn385Ser) single nucleotide variant Pathogenic rs120074123 GRCh37 Chromosome 11, 6414508: 6414508
22 SMPD1 NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro) single nucleotide variant Pathogenic rs120074124 GRCh37 Chromosome 11, 6413206: 6413206
23 SMPD1 NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs) deletion Pathogenic rs387906289 GRCh37 Chromosome 11, 6413291: 6413291
24 SMPD1 NM_000543.4(SMPD1): c.1177T> G (p.Trp393Gly) single nucleotide variant Pathogenic rs120074125 GRCh37 Chromosome 11, 6414531: 6414531
25 SMPD1 NM_000543.4(SMPD1): c.1267C> T (p.His423Tyr) single nucleotide variant Pathogenic rs120074126 GRCh37 Chromosome 11, 6414850: 6414850
26 SMPD1 NM_000543.4(SMPD1): c.1327C> T (p.Arg443Ter) single nucleotide variant Pathogenic rs120074127 GRCh37 Chromosome 11, 6414910: 6414910
27 SMPD1 NM_000543.4(SMPD1): c.880C> A (p.Gln294Lys) single nucleotide variant Pathogenic rs120074128 GRCh37 Chromosome 11, 6413175: 6413175
28 SMPD1 NM_000543.4(SMPD1): c.1451C> A (p.Ala484Glu) single nucleotide variant Pathogenic rs267607075 GRCh37 Chromosome 11, 6415236: 6415236
29 SMPD1 NM_000543.4(SMPD1): c.1406A> C (p.Tyr469Ser) single nucleotide variant Pathogenic rs267607074 GRCh37 Chromosome 11, 6415191: 6415191
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

Pathways related to Niemann-Pick Disease according to KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142

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 9.91 APOD CHIT1 GBA LCAT NPC2 PSAP
2 extracellular region GO:0005576 9.91 APOD CHIT1 HCRT LCAT NEGR1 NPC1
3 perinuclear region of cytoplasm GO:0048471 9.63 ABCA1 APOD HCRT M6PR NPC1 TLR4
4 lysosomal membrane GO:0005765 9.62 GBA M6PR NPC1 PSAP
5 high-density lipoprotein particle GO:0034364 9.4 ABCA1 LCAT
6 lysosomal lumen GO:0043202 9.26 GBA NPC2 PSAP SMPD1
7 lysosome GO:0005764 9.17 CHIT1 GBA M6PR NPC1 NPC2 PSAP

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.89 ABCA1 APOD NPC1 NPC1L1 SMPD1
2 lipid transport GO:0006869 9.81 APOD NPC1 NPC1L1 PSAP
3 steroid metabolic process GO:0008202 9.77 ABCA1 LCAT NPC1 NPC1L1 NPC2
4 cholesterol metabolic process GO:0008203 9.72 ABCA1 LCAT NPC1 NPC1L1 NPC2
5 cholesterol homeostasis GO:0042632 9.71 ABCA1 LCAT NPC1 NPC2
6 glycosphingolipid metabolic process GO:0006687 9.65 GBA PSAP SMPD1 UGCG UGT8
7 response to bacterium GO:0009617 9.61 CHIT1 TLR4
8 ceramide biosynthetic process GO:0046513 9.61 GBA SMPD1
9 cholesterol efflux GO:0033344 9.61 ABCA1 NPC1 NPC2
10 negative regulation of interleukin-6 production GO:0032715 9.6 GBA TLR4
11 lipoprotein metabolic process GO:0042157 9.59 ABCA1 NPC1L1
12 low-density lipoprotein particle clearance GO:0034383 9.58 NPC1 NPC2
13 positive regulation of protein dephosphorylation GO:0035307 9.58 GBA SMPD1
14 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.57 ABCA1 NPC1
15 reverse cholesterol transport GO:0043691 9.56 ABCA1 LCAT
16 interleukin-1 beta secretion GO:0050702 9.55 ABCA1 TLR4
17 sphingolipid metabolic process GO:0006665 9.55 ASAH2 GBA PSAP UGCG UGT8
18 intracellular cholesterol transport GO:0032367 9.54 ABCA1 NPC2
19 lipoprotein biosynthetic process GO:0042158 9.52 ABCA1 LCAT
20 termination of signal transduction GO:0023021 9.48 GBA SMPD1
21 regulation of high-density lipoprotein particle assembly GO:0090107 9.46 ABCA1 LCAT
22 lipid metabolic process GO:0006629 9.36 ABCA1 APOD ASAH2 GBA LCAT NPC1
23 cholesterol transport GO:0030301 9.35 ABCA1 LCAT NPC1 NPC1L1 NPC2

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 9.33 CHIT1 GBA SMPD1
2 lipid transporter activity GO:0005319 9.32 APOD NPC1
3 cholesterol transporter activity GO:0017127 9.26 ABCA1 NPC2
4 apolipoprotein A-I binding GO:0034186 8.96 ABCA1 LCAT
5 cholesterol binding GO:0015485 8.92 ABCA1 APOD NPC1 NPC2

Sources for Niemann-Pick Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
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43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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