NPD
MCID: NMN002
MIFTS: 65

Niemann-Pick Disease (NPD) malady

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

Aliases & Classifications for Niemann-Pick Disease

Aliases & Descriptions for Niemann-Pick Disease:

Name: Niemann-Pick Disease 38 12 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
Sphingomyelin/cholesterol Lipidosis 25 29
Juvenile Niemann-Pick Disease 23 24
Niemann-Pick Disease, Type C 42 69
Sphingomyelinase Deficiency 50 25
Niemann-Pick Diseases 42 69
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
Npd Type a 24
Npd Type B 24
Npd 25

Classifications:



External Ids:

Disease Ontology 12 DOID:14504
SNOMED-CT 64 58459009 66751000

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.   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  and , insufficient activity of an enzyme called  causes the build up of toxic amounts of , a fatty substance present in every cell of the body.  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 c1 and niemann-pick disease, type b, and has symptoms including ataxia, seizures and tremor. An important gene associated with Niemann-Pick Disease is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Ezetimibe and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow, and related phenotypes are behavior/neurological and homeostasis/metabolism

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.

NIH Rare Diseases : 50 niemann-pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. in people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. niemann-pick disease type a appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. due to the involvement of the nervous system, niemann-pick disease type a is also known as the neurological type. there is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. niemann-pick disease type a is caused by mutations in the smpd1 gene. it is inherited in an autosomal recessive pattern.  last updated: 4/17/2014

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 102)
id Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type c1 12.8
2 niemann-pick disease, type b 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, adult neurologic onset 12.1
7 niemann-pick disease type c, severe perinatal form 12.1
8 niemann-pick disease type c, late infantile neurologic onset 12.1
9 niemann-pick disease type c, severe early infantile neurologic onset 12.1
10 acid sphingomyelinase deficiency 11.7
11 niemann–pick disease 11.3
12 pick disease 11.3
13 sea-blue histiocyte disease 11.1
14 narcissistic personality disorder 10.9
15 neuronitis 10.5
16 hepatitis 10.3
17 histiocytosis 10.3
18 pouchitis 10.2 NPC1 NPC2
19 5-fluorouracil poisoning 10.2 NPC1 NPC2
20 neuroendocrine cell hyperplasia of infancy 10.2 NPC1 NPC2
21 pulmonary interstitial glycogenosis 10.2 NPC1 NPC2
22 atypical coarctation of aorta 10.2 NPC1 NPC2
23 lysosomal storage disease 10.2
24 autosomal dominant tubulointerstitial kidney disease, ren-related 10.2 NPC1 SMPD1
25 tinea favosa 10.1 NPC1 NPC2 SMPD1
26 cerebritis 10.1
27 splenomegaly 10.1
28 liver disease 10.1
29 lumbar spinal canal and spinal cord meningioma 10.1 NPC1 NPC2 SMPD1
30 chromosome breakage syndromes 10.1 CHIT1 GBA
31 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 10.1 PSAP SMPD1
32 osteomyelitis 10.0
33 hepatocellular carcinoma 10.0
34 pulmonary alveolar proteinosis 10.0
35 juvenile xanthogranuloma 10.0
36 crohn's disease 10.0
37 glycogen storage disease 10.0
38 dysphagia 10.0
39 epilepsy 10.0
40 myoclonus 10.0
41 leukemia 10.0
42 tremor 10.0
43 gaucher disease, type iii 10.0 GBA PSAP
44 gaucher disease, type iiic 10.0 GBA PSAP
45 hypertelorism, preauricular sinus, punctal pits, and deafness 10.0 CHIT1 MBP PSAP
46 clear cell adenoma 10.0 GBA MBP
47 hepatitis e 9.9 GBA SMPD1
48 hypothalamic disease 9.9 CHIT1 GBA PSAP
49 tay-sachs disease 9.9
50 thrombocytopenia 9.9

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

UMLS symptoms related to Niemann-Pick Disease:


constipation, vomiting, muscle weakness, dyspnea

MGI Mouse Phenotypes related to Niemann-Pick Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 APOD CES1 GBA MBP NPC1 NPC2
2 homeostasis/metabolism MP:0005376 10.11 APOD CES1 GBA MBP NPC1 NPC1L1
3 growth/size/body region MP:0005378 10.09 GBA MBP NPC1 NPC1L1 NPC2 PSAP
4 immune system MP:0005387 9.97 SMPD1 TLR4 UGT8 CHIT1 GBA MBP
5 hematopoietic system MP:0005397 9.95 GBA MBP NPC1 NPC2 PSAP SMPD1
6 endocrine/exocrine gland MP:0005379 9.93 NPC2 PSAP CES1 GBA NPC1 NPC1L1
7 liver/biliary system MP:0005370 9.86 TLR4 CES1 GBA NPC1 NPC1L1 NPC2
8 mortality/aging MP:0010768 9.81 APOD GBA MBP NPC1 NPC2 PSAP
9 nervous system MP:0003631 9.61 APOD GBA MBP NPC1 NPC2 PSAP
10 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 top 50) (show all 58)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 3,Phase 1 163222-33-1 150311
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5
Miglustat Approved Phase 3,Phase 2,Phase 1 72599-27-0 51634
6
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
7
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
8 Hypolipidemic Agents Phase 3,Phase 1
9 Anticholesteremic Agents Phase 3,Phase 1
10 Lipid Regulating Agents Phase 3,Phase 1
11 Antimetabolites Phase 3,Phase 2,Phase 1
12 insulin Phase 3
13 Prednisolone acetate Phase 2, Phase 3
14 Alkylating Agents Phase 2, Phase 3
15 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
16 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
17 Anti-HIV Agents Phase 3,Phase 2,Phase 1
18 Prednisolone hemisuccinate Phase 2, Phase 3
19 Prednisolone phosphate Phase 2, Phase 3
20 Anti-Infective Agents Phase 3,Phase 1,Phase 2
21 Immunosuppressive Agents Phase 2, Phase 3
22 Insulin, Globin Zinc Phase 3
23 Antilymphocyte Serum Phase 2, Phase 3
24 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
25 Methylprednisolone acetate Phase 2, Phase 3
26 Methylprednisolone Hemisuccinate Phase 2, Phase 3
27 Antirheumatic Agents Phase 2, Phase 3
28 Antineoplastic Agents, Alkylating Phase 2, Phase 3
29 Antiviral Agents Phase 3,Phase 1,Phase 2
30 Cardiac Glycosides Phase 3,Phase 2,Phase 1
31 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
32 Liver Extracts Phase 2, Phase 3
33
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
34
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
35
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
36
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
37
rituximab Approved Phase 2 174722-31-7 10201696
38
alemtuzumab Approved, Investigational Phase 2 216503-57-0
39
Thiotepa Approved Phase 2 52-24-4 5453
40
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
41 N-monoacetylcystine Phase 1, Phase 2
42 Histone Deacetylase Inhibitors Phase 1, Phase 2
43 Expectorants Phase 1, Phase 2
44 Protective Agents Phase 1, Phase 2
45 Antidotes Phase 1, Phase 2
46 Respiratory System Agents Phase 1, Phase 2
47
Betadex Phase 1, Phase 2 7585-39-9 320761
48 Antioxidants Phase 1, Phase 2
49 Thioctic Acid Phase 2
50 Tocopherols Phase 2

Interventional clinical trials:

(show all 41)
id Name Status NCT ID Phase
1 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
3 Effects of Selective Inhibition of Cholesterol Absorption With Ezetimibe on Intestinal Cholesterol Homeostasis in Dyslipidemic Men With Insulin-resistance - a Pilot Study Completed NCT01849068 Phase 3
4 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3
5 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Recruiting NCT02534844 Phase 2, Phase 3
6 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3
7 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3
8 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
9 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3
10 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2
11 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2
12 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2
13 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
14 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2
15 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
16 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
17 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
18 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2
19 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2
20 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
21 Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients Completed NCT01722526 Phase 1
22 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1
23 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1
24 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) Recruiting NCT02939547 Phase 1
25 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
26 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
27 Pilot Study of Ezetimibe for Chronic Hepatitis C Virus (HCV) Infection Recruiting NCT02126137 Phase 1
28 Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease) Terminated NCT00410566 Phase 1
29 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
30 Study of Changes in Total Cholesterol Levels as a Function of Consuming a Supplement Designed to Improve Cardiovascular Health Unknown status NCT01890889
31 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
32 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030
33 PET Scan of Brain Metabolism in Relation to Age and Disease Completed NCT00001972
34 Plant Stanols and Gene Expression Profile Completed NCT01574417
35 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
36 Biomarker for Niemann Pick Type C Disease Recruiting NCT01306604
37 Investigating Lysosomal Storage Diseases in Minority Groups Recruiting NCT02120235
38 Molecular and Cellular Mechanisms of Lysosomal Storage Diseases Recruiting NCT02000310
39 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
40 Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358
41 A Study to Identify and Characterize LAL-D Patients in High-risk Populations Terminated NCT02345421

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

Publications for Niemann-Pick Disease

Articles related to Niemann-Pick Disease:

(show top 50) (show all 614)
id Title Authors Year
1
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C. ( 28387450 )
2017
2
Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. ( 28480683 )
2017
3
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. ( 28414792 )
2017
4
The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. ( 27940359 )
2017
5
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
6
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1. ( 28383485 )
2017
7
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
8
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult. ( 28421028 )
2017
9
Abnormal dopamine transporter imaging in adult-onset Niemann-Pick disease type C. ( 28063684 )
2017
10
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C. ( 28092091 )
2017
11
Types A and B Niemann-Pick disease. ( 28164782 )
2017
12
Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein. ( 28465104 )
2017
13
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients. ( 28328115 )
2017
14
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
15
Pearls & Oy-sters: Niemann-Pick disease type C in a 65-year-old patient. ( 27550898 )
2016
16
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
17
Anesthetic Management in a Child With Niemann-Pick Disease. ( 28203333 )
2016
18
Niemann-Pick Disease Type B in a 21 Year Old Male. ( 27277377 )
2016
19
Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report. ( 27250337 )
2016
20
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family. ( 27549128 )
2016
21
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. ( 27198631 )
2016
22
A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome. ( 27181747 )
2016
23
Development of a bile acid-based newborn screen for Niemann-Pick disease type C. ( 27147587 )
2016
24
Niemann-Pick disease type C1(NPC1) is involved in resistance against imatinib in the imatinib-resistant Ph+ acute lymphoblastic leukemia cell line SUP-B15/RI. ( 26818574 )
2016
25
Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review. ( 27164983 )
2016
26
Types A and B Niemann-Pick Disease. ( 27491215 )
2016
27
Cathepsin S contributes to microglia-mediated olfactory dysfunction through the regulation of Cx3cl1-Cx3cr1 axis in a Niemann-Pick disease type C1 model. ( 27687148 )
2016
28
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. ( 26984608 )
2016
29
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages. ( 27993458 )
2016
30
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C. ( 27193329 )
2016
31
Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease. ( 27725636 )
2016
32
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. ( 27408787 )
2016
33
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C. ( 27271431 )
2016
34
Hepatic Primary and Secondary Cholesterol Deposition and Damage in Niemann-Pick Disease. ( 26784526 )
2016
35
Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C. ( 26939636 )
2016
36
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
37
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C. ( 26910362 )
2016
38
Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann-Pick disease. ( 27620840 )
2016
39
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. ( 27338287 )
2016
40
Niemann-Pick disease, type C and Roscoe Brady. ( 27923544 )
2016
41
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
42
Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target. ( 26986514 )
2016
43
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
44
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
45
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. ( 27339554 )
2016
46
Teaching Video NeuroImages: The "round the houses" sign as a clinical clue for Niemann-Pick disease type C. ( 27164722 )
2016
47
Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. ( 27366019 )
2016
48
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C). ( 27449637 )
2016
49
Cholesterol-dependent increases in glucosylceramide synthase activity in Niemann-Pick disease type C model cells: Abnormal trafficking of endogenously formed ceramide metabolites by inhibition of the enzyme. ( 27539961 )
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 43)
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 GRCh37 Chromosome 11, 6412770: 6412770
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 GRCh37 Chromosome 11, 6415726: 6415727

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 space GO:0005615 9.63 APOD CHIT1 GBA NPC2 PSAP SMPD1
2 lysosomal lumen GO:0043202 9.26 GBA NPC2 PSAP SMPD1
3 lysosome GO:0005764 9.1 CHIT1 GBA NPC1 NPC2 PSAP SMPD1

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.8 CES1 CHIT1 GBA SMPD1 UGT8
2 response to drug GO:0042493 9.76 APOD NPC1 NPC1L1 SMPD1
3 steroid metabolic process GO:0008202 9.65 NPC1 NPC1L1 NPC2
4 cholesterol metabolic process GO:0008203 9.61 NPC1 NPC1L1 NPC2
5 cholesterol biosynthetic process GO:0006695 9.58 CES1 NPC1L1
6 negative regulation of MAP kinase activity GO:0043407 9.57 GBA SMPD1
7 response to bacterium GO:0009617 9.56 CHIT1 TLR4
8 lipid transport GO:0006869 9.56 APOD NPC1 NPC1L1 PSAP
9 ceramide biosynthetic process GO:0046513 9.55 GBA SMPD1
10 negative regulation of interleukin-6 production GO:0032715 9.54 GBA TLR4
11 low-density lipoprotein particle clearance GO:0034383 9.52 NPC1 NPC2
12 cholesterol efflux GO:0033344 9.51 NPC1 NPC2
13 sphingolipid metabolic process GO:0006665 9.5 GBA PSAP UGT8
14 positive regulation of protein dephosphorylation GO:0035307 9.49 GBA SMPD1
15 termination of signal transduction GO:0023021 9.37 GBA SMPD1
16 cholesterol transport GO:0030301 9.33 NPC1 NPC1L1 NPC2
17 glycosphingolipid metabolic process GO:0006687 9.26 GBA PSAP SMPD1 UGT8
18 lipid metabolic process GO:0006629 9.17 APOD GBA NPC1 NPC1L1 NPC2 PSAP

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

id Name GO ID Score Top Affiliating Genes
1 lipid transporter activity GO:0005319 9.16 APOD NPC1
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 CHIT1 GBA SMPD1
3 cholesterol binding GO:0015485 8.8 APOD NPC1 NPC2

Sources for Niemann-Pick Disease

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