NPDB
MCID: NMN016
MIFTS: 58

Niemann-Pick Disease, Type B (NPDB)

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

Aliases & Classifications for Niemann-Pick Disease, Type B

MalaCards integrated aliases for Niemann-Pick Disease, Type B:

Name: Niemann-Pick Disease, Type B 56 29 13 6 43 39 71
Niemann-Pick Disease Type B 12 52 58 15
Niemann-Pick Disease Intermediate with Visceral Involvement and Rapid Progression 73
Niemann-Pick Disease Adult Non-Neuronopathic Form 73
Niemann-Pick Disease Visceral Form 73
Niemann-Pick Disease, Type a 71
Niemann-Picks Disease Type B 54
Niemann-Pick Disease, Type E 71
Sphingomyelinase Deficiency 73
Niemann Pick Disease Type B 52
Niemann-Pick Disease Type I 73
Niemann-Pick Disease Type E 73
Niemann-Pick Disease Type F 73
Sphingomyelin Lipidosis 73
Niemann-Pick Disease B 73
Niemann-Pick Diseases 71
Npdb 73
Npb 73

Characteristics:

Orphanet epidemiological data:

58
niemann-pick disease type b
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: young Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in infancy or childhood
more common in ashkenazi jews
allelic disorder to niemann-pick disease type a


HPO:

31
niemann-pick disease, type b:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare respiratory diseases
Inborn errors of metabolism


Summaries for Niemann-Pick Disease, Type B

NIH Rare Diseases : 52 Niemann-Pick disease type B is an inherited condition involving lipid metabolism. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain. Signs and symptoms typically develop in the pre-teen years and may include enlarged liver and spleen (hepatosplenomegaly ), short stature , problems with lung function including frequent lung infections, and a low number of platelets in the blood (thrombocytopenia ). Niemann-Pick disease type B is caused by changes (mutations or variants) in the SMPD1 gene . It is inherited in an autosomal recessive fashion. Treatment is aimed at addressing the symptoms present in each individual. Bone marrow transplantation has been attempted in a few individuals. Researchers are working to develop additional options for treatment, including enzyme replacement and gene therapy .

MalaCards based summary : Niemann-Pick Disease, Type B, also known as niemann-pick disease type b, is related to lipid pneumonia and acid sphingomyelinase deficiency, and has symptoms including muscle weakness, vomiting and dyspnea. An important gene associated with Niemann-Pick Disease, Type B is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Lipoprotein metabolism and Statin Pathway. The drugs Miglustat and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has material basis in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.

OMIM : 56 Niemann-Pick disease types A and B are caused by an inherited deficiency of acid sphingomyelinase activity. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset nonneurologic form (type B) that is compatible with survival into adulthood. Since intermediate cases also have been reported, the disease is best regarded a single entity with a clinical spectrum (summary by Schuchman, 2007). Schuchman (2007) provided a detailed review of Niemann-Pick disease type B, including clinical management. (607616)

UniProtKB/Swiss-Prot : 73 Niemann-Pick disease B: A late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood.

Related Diseases for Niemann-Pick Disease, Type B

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, Type B via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 lipid pneumonia 31.8 NPC2 NPB
2 acid sphingomyelinase deficiency 31.4 SMPD1 NPC1
3 niemann-pick disease 30.5 SMPD1 PITX3 NPC2 NPC1 NPB LIPA
4 gaucher disease, type i 30.1 SMPD1 CHIT1
5 lysosomal and lipase deficiency 29.6 SMPD1 NPC2 NPC1 NPB LIPA CHIT1
6 lysosomal acid lipase deficiency 29.6 SMPD1 NPC2 NPC1 NPB LIPA CHIT1
7 niemann-pick disease, type c1 29.3 SMPD1 NPC2 NPC1 LIPA
8 lysosomal storage disease 28.8 SMPD1 NPC2 NPC1 LIPA CHIT1
9 niemann-pick disease, type a 28.7 SMPD1 PITX3 NPC2 NPC1 NPB CHIT1
10 lipid storage disease 28.5 SMPD1 NPC2 NPC1 LIPA CHIT1
11 mucopolysaccharidosis-plus syndrome 28.4 SMPD1 NPC2 NPC1 LIPA CHIT1
12 sphingolipidosis 27.6 SMPD1 NPC2 NPC1 NPB LIPA CHIT1
13 body mass index quantitative trait locus 11 11.3
14 nasal cavity lymphoma 11.2
15 interstitial lung disease 10.6
16 lung disease 10.6
17 splenomegaly 10.6
18 sea-blue histiocyte disease 10.4
19 autosomal recessive disease 10.4
20 histiocytosis 10.4
21 triiodothyronine receptor auxiliary protein 10.3
22 thrombocytopenia 10.3
23 hypersplenism 10.3
24 paragangliomas 3 10.3
25 arteries, anomalies of 10.2
26 emphysema, congenital lobar 10.2
27 gilbert syndrome 10.2
28 hypercholesterolemia, familial, 1 10.2
29 hypertriglyceridemia, familial 10.2
30 myositis 10.2
31 parkinson disease, late-onset 10.2
32 graft-versus-host disease 10.2
33 hyperlipoproteinemia, type iii 10.2
34 lipoprotein quantitative trait locus 10.2
35 respiratory failure 10.2
36 pulmonary alveolar proteinosis 10.2
37 dengue disease 10.2
38 neutropenia 10.2
39 bronchopneumonia 10.2
40 pancytopenia 10.2
41 gaucher's disease 10.2
42 polyclonal hypergammaglobulinemia 10.2
43 bilirubin metabolic disorder 10.2
44 glycogen storage disease 10.2
45 lipid metabolism disorder 10.2
46 bronchitis 10.2
47 inherited metabolic disorder 10.2
48 myositis ossificans 10.2
49 lichen nitidus 10.2
50 hypotonia 10.2

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



Diseases related to Niemann-Pick Disease, Type B

Symptoms & Phenotypes for Niemann-Pick Disease, Type B

Human phenotypes related to Niemann-Pick Disease, Type B:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
2 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
3 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
6 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
7 cherry red spot of the macula 58 31 frequent (33%) Frequent (79-30%) HP:0010729
8 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
9 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
10 hypersplenism 58 31 frequent (33%) Frequent (79-30%) HP:0001971
11 increased ldl cholesterol concentration 58 31 frequent (33%) Frequent (79-30%) HP:0003141
12 decreased hdl cholesterol concentration 58 31 frequent (33%) Frequent (79-30%) HP:0003233
13 interstitial pulmonary abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0006530
14 progressive pulmonary function impairment 58 31 frequent (33%) Frequent (79-30%) HP:0006520
15 abnormal blood gas level 58 31 frequent (33%) Frequent (79-30%) HP:0012415
16 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
17 respiratory failure requiring assisted ventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004887
18 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
19 decreased serum insulin-like growth factor 1 58 31 occasional (7.5%) Occasional (29-5%) HP:0030353
20 intellectual disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001249
21 ataxia 58 31 very rare (1%) Very rare (<4-1%) HP:0001251
22 abnormal heart valve morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0001654
23 nystagmus 58 31 very rare (1%) Very rare (<4-1%) HP:0000639
24 cirrhosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001394
25 attention deficit hyperactivity disorder 58 31 very rare (1%) Very rare (<4-1%) HP:0007018
26 specific learning disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001328
27 depressivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000716
28 cholelithiasis 58 31 very rare (1%) Very rare (<4-1%) HP:0001081
29 bipolar affective disorder 58 31 very rare (1%) Very rare (<4-1%) HP:0007302
30 hepatic failure 58 31 very rare (1%) Very rare (<4-1%) HP:0001399
31 abnormal bleeding 58 31 very rare (1%) Very rare (<4-1%) HP:0001892
32 abnormal cerebellum morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0001317
33 neoplasm of the liver 58 31 very rare (1%) Very rare (<4-1%) HP:0002896
34 coronary artery atherosclerosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001677
35 autoimmune thrombocytopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001973
36 systemic lupus erythematosus 58 31 very rare (1%) Very rare (<4-1%) HP:0002725
37 pathologic fracture 58 31 very rare (1%) Very rare (<4-1%) HP:0002756
38 apraxia 58 31 very rare (1%) Very rare (<4-1%) HP:0002186
39 acute promyelocytic leukemia 58 31 very rare (1%) Very rare (<4-1%) HP:0004836
40 generalized non-motor (absence) seizure 31 very rare (1%) HP:0002121
41 behavioral abnormality 58 Very rare (<4-1%)
42 recurrent respiratory infections 31 HP:0002205
43 dyspnea 31 HP:0002094
44 thrombocytopenia 58 Frequent (79-30%)
45 hyperlipidemia 58 Frequent (79-30%)
46 abnormality of lipid metabolism 58 Frequent (79-30%)
47 abnormality of the nervous system 58 Occasional (29-5%)
48 abnormal macular morphology 31 HP:0001103
49 diffuse reticular or finely nodular infiltrations 31 HP:0002207
50 bone-marrow foam cells 31 HP:0004333

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Respiratory Lung:
dyspnea
diffuse reticular or finely nodular infiltrations
frequent respiratory infections
decreased pulmonary diffusion secondary to alveolar infiltration

Growth Height:
short stature (less common)

Head And Neck Eyes:
cherry-red maculae (less common)

Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
decreased hdl cholesterol
electron microscopy of foam cells shows lamellar inclusions
increased triglycerides
decreased acid sphingomyelinase activity
multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes
more
Hematology:
large vacuolated foam cells ('np cells') on bone marrow biopsy
'sea blue' histiocytes
decreased platelets

Neurologic Central Nervous System:
absence of neurologic manifestations

Clinical features from OMIM:

607616

UMLS symptoms related to Niemann-Pick Disease, Type B:


muscle weakness, vomiting, dyspnea, constipation

MGI Mouse Phenotypes related to Niemann-Pick Disease, Type B:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 APBB1 LIPA MED18 NPB NPC1 NPC2
2 hematopoietic system MP:0005397 9.8 LIPA MED18 MFSD10 NPC1 NPC2 PITX3
3 immune system MP:0005387 9.76 CHIT1 LIPA MED18 MFSD10 NPC1 NPC2
4 liver/biliary system MP:0005370 9.35 LIPA NPC1 NPC2 PITX3 SMPD1
5 respiratory system MP:0005388 9.02 LIPA NPC1 NPC2 PITX3 SMPD1

Drugs & Therapeutics for Niemann-Pick Disease, Type B

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2 Anti-HIV Agents Phase 4
3 Cardiac Glycosides Phase 4
4 Anti-Infective Agents Phase 4
5 Antiviral Agents Phase 4
6 Hypoglycemic Agents Phase 4
7 Anti-Retroviral Agents Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
9
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
10
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
11
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
12
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
13
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
14 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
15
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
16
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Alkylating Agents Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Immunologic Factors Phase 2, Phase 3
20 Antirheumatic Agents Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Antilymphocyte Serum Phase 2, Phase 3
23 Pharmaceutical Solutions Phase 2, Phase 3
24
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
25
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
26
alemtuzumab Approved, Investigational Phase 2 216503-57-0
27
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
28
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
29
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
30 Histone Deacetylase Inhibitors Phase 1, Phase 2
31 Respiratory System Agents Phase 1, Phase 2
32 Antidotes Phase 1, Phase 2
33 Antioxidants Phase 1, Phase 2
34 Expectorants Phase 1, Phase 2
35 N-monoacetylcystine Phase 1, Phase 2
36 Protective Agents Phase 1, Phase 2
37 Liver Extracts Phase 1, Phase 2
38
Bilirubin Phase 1, Phase 2 69853-43-6, 635-65-4 21252250 5280352
39 Antineoplastic Agents, Immunological Phase 2
40
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106
41
Lithium carbonate Approved Early Phase 1 554-13-2
42 Antidepressive Agents Early Phase 1
43 Psychotropic Drugs Early Phase 1
44 Complement System Proteins

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects Recruiting NCT03910621 Phase 4 Miglustat
2 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
3 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Recruiting NCT03643562 Phase 3 Adrabetadex
5 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
6 A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
7 A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270
8 Arimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
9 A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301 Enrolling by invitation NCT03879655 Phase 2, Phase 3 VTS-270
10 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
11 A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Completed NCT02292654 Phase 1, Phase 2 Olipudase alfa
12 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
13 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
14 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
15 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
16 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
17 Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 Recruiting NCT03887533 Phase 1, Phase 2 VTS-270
18 A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
19 A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004704 Phase 2 GZ402665
20 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
21 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Active, not recruiting NCT03759639 Phase 2 IB1001
22 An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease Not yet recruiting NCT03687476 Phase 2 VTS-270
23 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
24 An Open-label, Multicenter, Ascending Dose Study of the Tolerability and Safety of Recombinant Human Acid Sphingomyelinase (rhASM) in Patients With Acid Sphingomyelinase Deficiency (ASMD) Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
25 A Phase I/II Randomized, Controlled Study of OGT 918 in Adult and Juvenile Patients With Niemann Pick C Disease Completed NCT00316498 Phase 1 OGT918
26 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
27 A Phase I Study to Evaluate the Single and Multiple-dose Pharmacokinetics of Intravenous Trappsol Cyclo (HP-Beta-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) and the Effects of Dosing Upon Biomarkers of NPC Disease Completed NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
28 An Open‐Label Extension Study of the Long‐Term Safety and Efficacy of Intravenous Trappsol® Cyclo (HP‐β‐CD) in Patients With Niemann‐Pick Disease Type C (NPC‐1) Recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
29 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
30 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
31 A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
32 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
33 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
34 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Signo-symptomatology Progression Pattern Completed NCT02435030
35 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
36 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Completed NCT03883750
37 Positron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
38 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544
39 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
40 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
41 a Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 Type Active, not recruiting NCT03201627 Early Phase 1 Lithium Carbonate
42 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Active, not recruiting NCT01306604
43 Early Access Program With Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US Available NCT04316637 Arimoclomol
44 Complement Activation in the Lysosomal Storage Disorders Not yet recruiting NCT04189601
45 Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358

Search NIH Clinical Center for Niemann-Pick Disease, Type B

Cochrane evidence based reviews: niemann-pick disease, type b

Genetic Tests for Niemann-Pick Disease, Type B

Genetic tests related to Niemann-Pick Disease, Type B:

# Genetic test Affiliating Genes
1 Niemann-Pick Disease, Type B 29 SMPD1

Anatomical Context for Niemann-Pick Disease, Type B

MalaCards organs/tissues related to Niemann-Pick Disease, Type B:

40
Liver, Bone, Bone Marrow, Brain, Lung, Spleen, Cerebellum

Publications for Niemann-Pick Disease, Type B

Articles related to Niemann-Pick Disease, Type B:

(show top 50) (show all 130)
# Title Authors PMID Year
1
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures. 6 56 61
11932991 2002
2
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. 6 56
19405096 2009
3
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. 56 6
15877209 2005
4
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. 6 56
12369017 2002
5
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. 56 6
1301192 1992
6
The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B. 61 54 6
12694237 2003
7
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. 61 54 6
8225311 1993
8
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. 56 61
27198631 2016
9
Acid Sphingomyelinase Deficiency 61 6
20301544 2006
10
Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells. 56 61
1442900 1992
11
Evidence of polyglandular involvement in Niemann-Pick disease type B. 61 56
2820735 1987
12
Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development. 56 61
3933867 1985
13
Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver. 61 56
6264784 1981
14
Morbidity and mortality in type B Niemann-Pick disease. 56
23412609 2013
15
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. 56
21502868 2011
16
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. 56
20111001 2010
17
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. 56
17632693 2007
18
Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol. 6
12607113 2003
19
Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function. 56
10942425 2000
20
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. 6
9266408 1997
21
Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. 6
8401540 1993
22
Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. 56
1618760 1992
23
Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. 6
1885770 1991
24
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 56
2023926 1991
25
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. 56
2120445 1990
26
Successful therapy of Niemann-Pick disease by implantation of human amniotic membrane. 56
3037739 1987
27
Adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: report of a case confirmed by lipid analysis and enzyme assays. 56
4073013 1985
28
Expression of HLA antigens, beta 2-microglobulin and enzymes by human amniotic epithelial cells. 56
6173762 1982
29
Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two cases reports and review of the literature. 56
7236073 1981
30
A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase. 56
216805 1978
31
Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann-Pick disease. 56
100330 1978
32
Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation. 56
208852 1978
33
Pathogenesis of one variant of sea-blue histiocytosis. 56
1081167 1975
34
Familial sea-blue histiocytes with acid phosphatemia. A syndrome resembling Gaucher disease: the Lewis variant. 56
4123476 1973
35
Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. 56
6015567 1967
36
LIPID HISTOCHEMISTRY AND ELECTRON MICROSCOPY IN ADULT NIEMANN-PICK DISEASE. 56
14246098 1964
37
Adult lipidosis resembling Niemann-Pick's disease. 56
13138710 1954
38
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? 61 54
16802107 2006
39
[Bone marrow manifestation of Niemann-Pick disease. A review of histiocytic proliferations of the bone marrow]. 61 54
12436303 2002
40
[A female patient with splenomegaly, interstitial pneumopathy and giant foam cells in bone marrow]. 61 54
10515006 1999
41
Niemann-Pick Disease Type B in Traumatic Splenic Rupture. 61
32541392 2020
42
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management. 61
32375665 2020
43
The Effects of Liver Transplantation in Children With Niemann-Pick Disease Type B. 61
30912297 2019
44
Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene. 61
31009819 2019
45
Acid sphingomyelinase deficiency (Niemann‒Pick disease Type B) as an inflammatory disease. 61
30846233 2019
46
Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation. 61
30818011 2019
47
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual. 61
29948344 2019
48
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up. 61
30795770 2019
49
Niemann-Pick Disease Type B: A Rare Cause of Lung Cysts. 61
30025906 2019
50
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]. 61
29129654 2018

Variations for Niemann-Pick Disease, Type B

ClinVar genetic disease variations for Niemann-Pick Disease, Type B:

6 (show top 50) (show all 112) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMPD1 NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)SNV Pathogenic 529233 rs1554934193 11:6412804-6412804 11:6391574-6391574
2 SMPD1 NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)SNV Pathogenic 650777 11:6413349-6413349 11:6392119-6392119
3 SMPD1 NM_000543.5(SMPD1):c.1108dup (p.Ala370fs)duplication Pathogenic 640937 11:6414461-6414462 11:6393231-6393232
4 APBB1 , SMPD1 NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)SNV Pathogenic 2980 rs120074117 11:6415434-6415434 11:6394204-6394204
5 SMPD1 NM_000543.5(SMPD1):c.1314C>A (p.Ser438Arg)SNV Pathogenic 2983 rs267607073 11:6414897-6414897 11:6393667-6393667
6 SMPD1 NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)SNV Pathogenic 2987 rs120074122 11:6413025-6413025 11:6391795-6391795
7 SMPD1 NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser)SNV Pathogenic 2988 rs120074123 11:6414508-6414508 11:6393278-6393278
8 SMPD1 NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)SNV Pathogenic 2989 rs120074124 11:6413206-6413206 11:6391976-6391976
9 SMPD1 NM_000543.5(SMPD1):c.996del (p.Phe333fs)deletion Pathogenic 2990 rs387906289 11:6413286-6413286 11:6392056-6392056
10 SMPD1 NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)SNV Pathogenic 2991 rs120074125 11:6414531-6414531 11:6393301-6393301
11 SMPD1 NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)SNV Pathogenic 2992 rs120074126 11:6414850-6414850 11:6393620-6393620
12 SMPD1 NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)SNV Pathogenic 2993 rs120074127 11:6414910-6414910 11:6393680-6393680
13 SMPD1 NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)SNV Pathogenic 2994 rs120074128 11:6413175-6413175 11:6391945-6391945
14 SMPD1 NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter)SNV Pathogenic 857473 11:6414476-6414476 11:6393246-6393246
15 SMPD1 NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter)SNV Pathogenic 837822 11:6414894-6414894 11:6393664-6393664
16 SMPD1 NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)SNV Pathogenic 93318 rs398123478 11:6415565-6415565 11:6394335-6394335
17 SMPD1 NM_000543.5(SMPD1):c.573del (p.Ser192fs)deletion Pathogenic 167710 rs727504167 11:6412868-6412868 11:6391638-6391638
18 APBB1 , SMPD1 NM_000543.5(SMPD1):c.1826_1828GCC[1] (p.Arg610del)short repeat Pathogenic 198093 rs120074118 11:6415767-6415769 11:6394537-6394539
19 SMPD1 NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)SNV Pathogenic 371341 rs1057517195 11:6412852-6412852 11:6391622-6391622
20 SMPD1 NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)deletion Pathogenic/Likely pathogenic 371029 rs1057516949 11:6411977-6411980 11:6390747-6390750
21 SMPD1 NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)SNV Pathogenic/Likely pathogenic 370753 rs868423827 11:6412069-6412069 11:6390839-6390839
22 SMPD1 NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)SNV Pathogenic/Likely pathogenic 167709 rs727504166 11:6412770-6412770 11:6391540-6391540
23 SMPD1 NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)deletion Pathogenic/Likely pathogenic 195086 rs794727252 11:6413076-6413098 11:6391846-6391868
24 SMPD1 NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)deletion Pathogenic/Likely pathogenic 189096 rs786204694 11:6412832-6412833 11:6391602-6391603
25 SMPD1 NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)SNV Pathogenic/Likely pathogenic 189075 rs753508874 11:6415215-6415215 11:6393985-6393985
26 SMPD1 NM_000543.5(SMPD1):c.757G>C (p.Asp253His)SNV Pathogenic/Likely pathogenic 93320 rs398123479 11:6413052-6413052 11:6391822-6391822
27 SMPD1 NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)SNV Pathogenic/Likely pathogenic 100731 rs587779408 11:6413034-6413034 11:6391804-6391804
28 SMPD1 NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)SNV Pathogenic/Likely pathogenic 93315 rs182812968 11:6415211-6415211 11:6393981-6393981
29 SMPD1 NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala)SNV Pathogenic/Likely pathogenic 633427 rs761308217 11:6413268-6413268 11:6392038-6392038
30 SMPD1 NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)SNV Likely pathogenic 93313 rs398123475 11:6414882-6414882 11:6393652-6393652
31 SMPD1 NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser)SNV Likely pathogenic 864212 11:6415179-6415179 11:6393949-6393949
32 SMPD1 NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)SNV Likely pathogenic 167712 rs120074117 11:6415434-6415434 11:6394204-6394204
33 SMPD1 NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)SNV Likely pathogenic 662004 11:6415243-6415243 11:6394013-6394013
34 SMPD1 NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)SNV Likely pathogenic 198095 rs769904764 11:6415433-6415433 11:6394203-6394203
35 SMPD1 NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)SNV Likely pathogenic 385606 rs763566905 11:6415212-6415212 11:6393982-6393982
36 SMPD1 NM_000543.5(SMPD1):c.297C>G (p.Thr99=)SNV Conflicting interpretations of pathogenicity 305196 rs146630228 11:6412125-6412125 11:6390895-6390895
37 SMPD1 NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)SNV Conflicting interpretations of pathogenicity 235490 rs141641266 11:6415245-6415245 11:6394015-6394015
38 SMPD1 NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)deletion Conflicting interpretations of pathogenicity 256590 rs775860642 11:6411931-6411936 11:6390701-6390706
39 SMPD1 NM_000543.5(SMPD1):c.872G>A (p.Arg291His)SNV Conflicting interpretations of pathogenicity 195085 rs1803161 11:6413167-6413167 11:6391937-6391937
40 SMPD1 NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)SNV Conflicting interpretations of pathogenicity 198094 rs142787001 11:6415491-6415491 11:6394261-6394261
41 SMPD1 NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)SNV Conflicting interpretations of pathogenicity 198092 rs199915216 11:6415539-6415539 11:6394309-6394309
42 SMPD1 NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)SNV Conflicting interpretations of pathogenicity 286896 rs552841217 11:6415540-6415540 11:6394310-6394310
43 SMPD1 NM_000543.5(SMPD1):c.441G>A (p.Val147=)SNV Conflicting interpretations of pathogenicity 287033 rs148944108 11:6412736-6412736 11:6391506-6391506
44 SMPD1 NM_000543.5(SMPD1):c.689G>A (p.Arg230His)SNV Conflicting interpretations of pathogenicity 288072 rs141387770 11:6412984-6412984 11:6391754-6391754
45 SMPD1 NM_000543.5(SMPD1):c.762G>A (p.Leu254=)SNV Conflicting interpretations of pathogenicity 289880 rs143939609 11:6413057-6413057 11:6391827-6391827
46 SMPD1 NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)SNV Conflicting interpretations of pathogenicity 289948 rs35122256 11:6415530-6415530 11:6394300-6394300
47 SMPD1 NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)SNV Conflicting interpretations of pathogenicity 289949 rs147258619 11:6415502-6415502 11:6394272-6394272
48 SMPD1 NM_000543.5(SMPD1):c.373C>T (p.Leu125=)SNV Conflicting interpretations of pathogenicity 291102 rs370048730 11:6412668-6412668 11:6391438-6391438
49 SMPD1 NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)SNV Conflicting interpretations of pathogenicity 282907 rs201659696 11:6415573-6415573 11:6394343-6394343
50 SMPD1 NM_000543.5(SMPD1):c.1091+9C>TSNV Conflicting interpretations of pathogenicity 285417 rs143612450 11:6413395-6413395 11:6392165-6392165

UniProtKB/Swiss-Prot genetic disease variations for Niemann-Pick Disease, Type B:

73 (show top 50) (show all 65)
# Symbol AA change Variation ID SNP ID
1 SMPD1 p.Gly244Arg VAR_005058 rs120074122
2 SMPD1 p.Glu248Gln VAR_005059 rs200763423
3 SMPD1 p.Met384Ile VAR_005061 rs120074121
4 SMPD1 p.Asn385Ser VAR_005062 rs120074123
5 SMPD1 p.Trp393Gly VAR_005064 rs120074125
6 SMPD1 p.Ser438Arg VAR_005065 rs267607073
7 SMPD1 p.Cys159Arg VAR_011387 rs727504166
8 SMPD1 p.Ser250Arg VAR_015287 rs750779804
9 SMPD1 p.Pro373Ser VAR_015289
10 SMPD1 p.His423Tyr VAR_015290 rs120074126
11 SMPD1 p.Pro477Leu VAR_015292 rs753508874
12 SMPD1 p.Cys94Trp VAR_060871
13 SMPD1 p.Leu105Pro VAR_060872 rs751269562
14 SMPD1 p.Val132Ala VAR_060873
15 SMPD1 p.Leu139Pro VAR_060874 rs797044797
16 SMPD1 p.Gly168Arg VAR_060875
17 SMPD1 p.Ile178Asn VAR_060876 rs749780769
18 SMPD1 p.Ala198Pro VAR_060878 rs797044798
19 SMPD1 p.Arg202Cys VAR_060879 rs749595299
20 SMPD1 p.Leu227Met VAR_060880
21 SMPD1 p.Leu227Pro VAR_060881 rs764317969
22 SMPD1 p.Arg230Cys VAR_060882 rs989639224
23 SMPD1 p.Gly234Asp VAR_060884
24 SMPD1 p.Trp246Cys VAR_060886
25 SMPD1 p.Gly247Ser VAR_060887 rs587779408
26 SMPD1 p.Ala283Thr VAR_060891 rs752148586
27 SMPD1 p.Pro325Ala VAR_060896 rs761308217
28 SMPD1 p.Pro332Arg VAR_060897 rs202081954
29 SMPD1 p.Ala359Asp VAR_060899 rs797044800
30 SMPD1 p.Arg378His VAR_060901 rs559088058
31 SMPD1 p.Arg378Leu VAR_060902
32 SMPD1 p.Ser381Pro VAR_060903
33 SMPD1 p.Ala415Val VAR_060905 rs145119979
34 SMPD1 p.Cys433Arg VAR_060907 rs779528546
35 SMPD1 p.Leu434Pro VAR_060908
36 SMPD1 p.Trp437Cys VAR_060909
37 SMPD1 p.Ala454Val VAR_060911 rs140273402
38 SMPD1 p.Gly458Asp VAR_060912
39 SMPD1 p.Arg476Trp VAR_060914 rs182812968
40 SMPD1 p.Phe482Leu VAR_060915
41 SMPD1 p.Thr488Ala VAR_060918
42 SMPD1 p.Tyr490Asn VAR_060919 rs398123477
43 SMPD1 p.Gly496Ser VAR_060920 rs155493537
44 SMPD1 p.Arg498Cys VAR_060921 rs769904764
45 SMPD1 p.His516Gln VAR_060924
46 SMPD1 p.Glu517Val VAR_060925 rs142787001
47 SMPD1 p.Trp535Arg VAR_060927 rs155493555
48 SMPD1 p.Leu551Pro VAR_060928
49 SMPD1 p.Asp565Tyr VAR_060929
50 SMPD1 p.Lys578Asn VAR_060930 rs747342458

Expression for Niemann-Pick Disease, Type B

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

Pathways for Niemann-Pick Disease, Type B

GO Terms for Niemann-Pick Disease, Type B

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

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 9.13 SMPD1 NPC2 LIPA
2 lysosome GO:0005764 9.02 SMPD1 NPC2 NPC1 LIPA CHIT1

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

# Name GO ID Score Top Affiliating Genes
1 response to cocaine GO:0042220 9.37 SMPD1 PITX3
2 cholesterol transport GO:0030301 9.32 NPC2 NPC1
3 cholesterol efflux GO:0033344 9.26 NPC2 NPC1
4 intracellular cholesterol transport GO:0032367 9.16 NPC2 NPC1
5 cholesterol metabolic process GO:0008203 9.13 SMPD1 NPC2 NPC1
6 low-density lipoprotein particle clearance GO:0034383 8.8 NPC2 NPC1 LIPA

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 8.62 NPC2 NPC1

Sources for Niemann-Pick Disease, Type B

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