NPDB
MCID: NMN016
MIFTS: 56

Niemann-Pick Disease, Type B (NPDB)

Categories: Eye diseases, Genetic diseases, Liver diseases, Mental 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 57 29 13 6 44 39 70
Niemann-Pick Disease Type B 12 20 58 15
Niemann-Pick Disease Intermediate with Visceral Involvement and Rapid Progression 72
Niemann-Pick Disease Adult Non-Neuronopathic Form 72
Acid Sphingomyelinase Deficiency, Visceral Type 57
Niemann-Pick Disease Visceral Form 72
Niemann-Pick Disease, Type a 70
Niemann-Picks Disease Type B 54
Niemann-Pick Disease, Type E 70
Sphingomyelinase Deficiency 72
Niemann Pick Disease Type B 20
Niemann-Pick Disease Type I 72
Niemann-Pick Disease Type E 72
Niemann-Pick Disease Type F 72
Sphingomyelin Lipidosis 72
Niemann-Pick Disease B 72
Niemann-Pick Diseases 70
Asmd, Visceral Type 57
Npdb 72
Npb 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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

GARD : 20 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 niemann-pick disease and pick disease of brain, and has symptoms including constipation, muscle weakness and vomiting. An important gene associated with Niemann-Pick Disease, Type B is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Metabolism and Statin Pathway. The drugs Miglustat and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and lung, and related phenotypes are osteopenia and splenomegaly

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® : 57 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 125)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 31.8 SMPD1 NPC2 NPC1 NPB LIPA CHIT1
2 pick disease of brain 31.6 SMPD1 NPC2 NPC1
3 acid sphingomyelinase deficiency 31.3 SMPD1 NPC1 APBB1
4 niemann-pick disease, type c1 30.6 SMPD1 NPC2 NPC1 LIPA APBB1
5 lysosomal storage disease 30.2 SMPD1 NPC2 NPC1 LIPA CHIT1
6 inherited metabolic disorder 30.2 NPC2 NPC1 LIPA
7 niemann-pick disease, type a 30.1 SMPD1 NPC2 NPC1 NPB LIPA FAM223A
8 farber lipogranulomatosis 30.0 SMPD1 NPC1
9 lipid storage disease 29.9 SMPD1 NPC2 NPC1 LIPA CHIT1
10 gaucher's disease 29.9 SMPD1 NPC2 NPC1 LIPA CHIT1
11 mucopolysaccharidosis-plus syndrome 29.7 SMPD1 NPC2 NPC1 LIPA CHIT1
12 sphingolipidosis 29.7 SMPD1 NPC2 NPC1 LIPA CHIT1
13 body mass index quantitative trait locus 11 11.1
14 chromosome xp21 deletion syndrome 10.9
15 gallbladder papillomatosis 10.9
16 interstitial lung disease 10.6
17 lung disease 10.6
18 splenomegaly 10.6
19 autosomal recessive disease 10.5
20 sea-blue histiocyte disease 10.4
21 thrombocytopenia 10.4
22 histiocytosis 10.4
23 hypersplenism 10.4
24 triiodothyronine receptor auxiliary protein 10.3
25 liver disease 10.3
26 niemann-pick disease type c, juvenile neurologic onset 10.2 NPC2 NPC1
27 niemann-pick disease type c, adult neurologic onset 10.2 NPC2 NPC1
28 niemann-pick disease type c, severe early infantile neurologic onset 10.2 NPC2 NPC1
29 niemann-pick disease type c, late infantile neurologic onset 10.2 NPC2 NPC1
30 niemann-pick disease type c, severe perinatal form 10.2 NPC2 NPC1
31 arteries, anomalies of 10.2
32 cleft palate, isolated 10.2
33 emphysema, congenital lobar 10.2
34 gilbert syndrome 10.2
35 hypercholesterolemia, familial, 1 10.2
36 hypertelorism 10.2
37 hypertriglyceridemia, familial 10.2
38 myositis 10.2
39 parkinson disease, late-onset 10.2
40 urofacial syndrome 1 10.2
41 graft-versus-host disease 10.2
42 lipoprotein quantitative trait locus 10.2
43 urinary tract infection 10.2
44 respiratory failure 10.2
45 pulmonary alveolar proteinosis 10.2
46 dengue disease 10.2
47 neutropenia 10.2
48 bronchopneumonia 10.2
49 pancytopenia 10.2
50 acute cystitis 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 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
2 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
3 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
4 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
7 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
8 cherry red spot of the macula 58 31 frequent (33%) Frequent (79-30%) HP:0010729
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 progressive pulmonary function impairment 58 31 frequent (33%) Frequent (79-30%) HP:0006520
14 abnormal blood gas level 58 31 frequent (33%) Frequent (79-30%) HP:0012415
15 abnormal pulmonary interstitial morphology 31 frequent (33%) HP:0006530
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 nystagmus 58 31 very rare (1%) Very rare (<4-1%) HP:0000639
22 depressivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000716
23 ataxia 58 31 very rare (1%) Very rare (<4-1%) HP:0001251
24 abnormal heart valve morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0001654
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 cirrhosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001394
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 thrombocytopenia 58 Frequent (79-30%)
44 dyspnea 31 HP:0002094
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 interstitial pulmonary abnormality 58 Frequent (79-30%)
50 diffuse reticular or finely nodular infiltrations 31 HP:0002207

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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


constipation; muscle weakness; vomiting; dyspnea

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-Infective Agents Phase 4
3 Hypoglycemic Agents Phase 4
4 Anti-Retroviral Agents Phase 4
5 Anti-HIV Agents Phase 4
6 Antiviral Agents Phase 4
7 Glycoside Hydrolase Inhibitors Phase 4
8 Cardiac Glycosides Phase 4
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
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
13
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
14
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
15
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
16
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Antirheumatic Agents Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Alkylating Agents Phase 2, Phase 3
20 Immunologic Factors Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Antilymphocyte Serum Phase 2, Phase 3
23 Pharmaceutical Solutions Phase 2, Phase 3
24
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
25
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
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 Antidotes Phase 1, Phase 2
31 Respiratory System Agents Phase 1, Phase 2
32 Antioxidants Phase 1, Phase 2
33 Protective Agents Phase 1, Phase 2
34 Expectorants Phase 1, Phase 2
35 N-monoacetylcystine Phase 1, Phase 2
36 Histone Deacetylase Inhibitors Phase 1, Phase 2
37 Liver Extracts Phase 1, Phase 2
38
Bilirubin Phase 1, Phase 2 635-65-4 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 Psychotropic Drugs Early Phase 1
43 Antidepressive Agents Early Phase 1
44 Complement System Proteins

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects Recruiting NCT03910621 Phase 4 Miglustat
2 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
3 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
5 Arimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
6 A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270
7 A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301 Active, not recruiting NCT03879655 Phase 2, Phase 3 VTS-270
8 Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Active, not recruiting NCT03643562 Phase 3 Adrabetadex
9 A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Completed NCT02292654 Phase 1, Phase 2 Olipudase alfa
10 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
11 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
12 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
13 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
14 Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 Recruiting NCT03887533 Phase 1, Phase 2 VTS-270
15 A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004704 Phase 2 GZ402665
16 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Active, not recruiting NCT03759639 Phase 2 IB1001
17 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Active, not recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
18 A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes Active, not recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
19 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
20 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
21 An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease Withdrawn NCT03687476 Phase 2 VTS-270
22 An Open-label, Multicenter, Ascending Dose Study of the Tolerability and Safety of Recombinant Human Acid Sphingomyelinase (rhASM) in Patients With Acid Sphingomyelinase Deficiency (ASMD) Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
23 A Phase I/II Randomized, Controlled Study of OGT 918 in Adult and Juvenile Patients With Niemann Pick C Disease Completed NCT00316498 Phase 1 OGT918
24 A Phase I Study to Evaluate the Single and Multiple-dose Pharmacokinetics of Intravenous Trappsol Cyclo (HP-Beta-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) and the Effects of Dosing Upon Biomarkers of NPC Disease Completed NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
25 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
26 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
27 An Open-Label Extension Study of the Long-Term Safety and Efficacy of Intravenous Trappsol® Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) Active, not recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
28 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
29 A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
30 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
31 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
32 Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick Disease Through the Eyes of Patients and Families Completed NCT04469894
33 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Completed NCT03883750
34 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Signo-symptomatology Progression Pattern Completed NCT02435030
35 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
36 Positron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
37 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544
38 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
39 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
40 a Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 Type Active, not recruiting NCT03201627 Early Phase 1 Lithium Carbonate
41 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Active, not recruiting NCT01306604
42 Early Access Program With Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US Available NCT04316637 Arimoclomol
43 Complement Activation in the Lysosomal Storage Disorders Not yet recruiting NCT04189601
44 Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358

Search NIH Clinical Center for Niemann-Pick Disease, 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 Marrow, Lung, Spleen, Eye, Bone, Brain

Publications for Niemann-Pick Disease, Type B

Articles related to Niemann-Pick Disease, Type B:

(show top 50) (show all 174)
# Title Authors PMID Year
1
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures. 61 6 57
11932991 2002
2
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. 6 57
21502868 2011
3
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. 57 6
19405096 2009
4
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. 57 6
15877209 2005
5
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. 6 57
12369017 2002
6
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. 57 6
1618760 1992
7
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. 6 57
1301192 1992
8
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 57 6
2023926 1991
9
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. 54 6 61
12694237 2003
10
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. 61 6 54
8225311 1993
11
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. 61 57
27198631 2016
12
Pathogenic Compound Heterozygous Mutations in a Mexican Mestizo Patient with Niemann-Pick Disease Type B. 61 6
29485843 2016
13
A novel missense SMPD1 gene mutation, T460P, and clinical findings in a patient with Niemann-Pick disease type B presenting to a lipid disorders clinic. 6 61
24643943 2014
14
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. 6 61
22818240 2012
15
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. 6 61
18625664 2008
16
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. 54 6
15545621 2004
17
Ocular manifestations of Niemann-Pick disease type B. 61 6
15234149 2004
18
Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells. 61 57
1442900 1992
19
Evidence of polyglandular involvement in Niemann-Pick disease type B. 57 61
2820735 1987
20
Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development. 57 61
3933867 1985
21
Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver. 61 57
6264784 1981
22
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease. 6
30788890 2019
23
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. 6
29140481 2017
24
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type. 6
28801223 2017
25
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 6
28600779 2017
26
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. 6
27338287 2016
27
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations. 6
26790753 2016
28
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 6
26981555 2016
29
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 6
26499107 2016
30
Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease. 6
26084044 2015
31
Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD). 6
25811928 2015
32
Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood. 6
24718843 2015
33
Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A. 6
26913189 2015
34
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 6
24767253 2014
35
Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. 6
23252888 2013
36
Morbidity and mortality in type B Niemann-Pick disease. 57
23412609 2013
37
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations. 6
23418865 2013
38
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity. 6
23430512 2013
39
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. 6
23356216 2013
40
R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease. 6
23188845 2012
41
Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow. 6
22796693 2012
42
Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease. 6
23430884 2012
43
Is active acid sphingomyelinase required for the antiproliferative response to rituximab? 6
21454466 2011
44
A novel mechanism of lysosomal acid sphingomyelinase maturation: requirement for carboxyl-terminal proteolytic processing. 6
21098024 2011
45
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. 6
20386867 2010
46
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. 57
20111001 2010
47
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models. 6
18815062 2008
48
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. 6
17876723 2007
49
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. 57
17632693 2007
50
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. 6
17011332 2006

Variations for Niemann-Pick Disease, Type B

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

6 (show top 50) (show all 207)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMPD1 NM_000543.5(SMPD1):c.1108dup (p.Ala370fs) Duplication Pathogenic 640937 rs1590743683 GRCh37: 11:6414461-6414462
GRCh38: 11:6393231-6393232
2 SMPD1 NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) SNV Pathogenic 633427 rs761308217 GRCh37: 11:6413268-6413268
GRCh38: 11:6392038-6392038
3 SMPD1 NM_000543.5(SMPD1):c.1314C>A (p.Ser438Arg) SNV Pathogenic 2983 rs267607073 GRCh37: 11:6414897-6414897
GRCh38: 11:6393667-6393667
4 SMPD1 NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) SNV Pathogenic 529233 rs1554934193 GRCh37: 11:6412804-6412804
GRCh38: 11:6391574-6391574
5 SMPD1 NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu) SNV Pathogenic 502573 rs760203204 GRCh37: 11:6412846-6412846
GRCh38: 11:6391616-6391616
6 SMPD1 NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter) SNV Pathogenic 837822 GRCh37: 11:6414894-6414894
GRCh38: 11:6393664-6393664
7 SMPD1 NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) SNV Pathogenic 554977 rs559088058 GRCh37: 11:6414487-6414487
GRCh38: 11:6393257-6393257
8 SMPD1 NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter) SNV Pathogenic 857473 GRCh37: 11:6414476-6414476
GRCh38: 11:6393246-6393246
9 SMPD1 NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) SNV Pathogenic 188840 rs786204506 GRCh37: 11:6411924-6411924
GRCh38: 11:6390694-6390694
10 SMPD1 NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) SNV Pathogenic 813480 rs755160837 GRCh37: 11:6414606-6414606
GRCh38: 11:6393376-6393376
11 SMPD1 NM_000543.5(SMPD1):c.1583_1584del (p.Ile528fs) Deletion Pathogenic 944778 GRCh37: 11:6415523-6415524
GRCh38: 11:6394293-6394294
12 SMPD1 NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) SNV Pathogenic 188840 rs786204506 GRCh37: 11:6411924-6411924
GRCh38: 11:6390694-6390694
13 SMPD1 NM_000543.5(SMPD1):c.110_116del (p.Leu37fs) Deletion Pathogenic 959328 GRCh37: 11:6411938-6411944
GRCh38: 11:6390708-6390714
14 SMPD1 NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs) Duplication Pathogenic 965494 GRCh37: 11:6412992-6412993
GRCh38: 11:6391762-6391763
15 SMPD1 NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) Deletion Pathogenic 813421 rs748411156 GRCh37: 11:6415167-6415168
GRCh38: 11:6393937-6393938
16 SMPD1 NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) SNV Pathogenic 556092 rs751269562 GRCh37: 11:6412142-6412142
GRCh38: 11:6390912-6390912
17 SMPD1 NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs) Duplication Pathogenic 992675 GRCh37: 11:6411883-6411884
GRCh38: 11:6390653-6390654
18 SMPD1 NM_000543.5(SMPD1):c.625del (p.Leu209fs) Deletion Pathogenic 992684 GRCh37: 11:6412919-6412919
GRCh38: 11:6391689-6391689
19 SMPD1 NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter) SNV Pathogenic 992685 GRCh37: 11:6412927-6412927
GRCh38: 11:6391697-6391697
20 SMPD1 NM_000543.5(SMPD1):c.199dup (p.Gln67fs) Duplication Pathogenic 992677 GRCh37: 11:6412023-6412024
GRCh38: 11:6390793-6390794
21 SMPD1 NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs) Indel Pathogenic 992678 GRCh37: 11:6412031-6412033
GRCh38: 11:6390801-6390803
22 SMPD1 NM_000543.5(SMPD1):c.499del (p.Cys167fs) Deletion Pathogenic 992681 GRCh37: 11:6412794-6412794
GRCh38: 11:6391564-6391564
23 SMPD1 NM_000543.5(SMPD1):c.572dup (p.Pro191_Ser192insTer) Duplication Pathogenic 992682 GRCh37: 11:6412862-6412863
GRCh38: 11:6391632-6391633
24 SMPD1 NM_000543.5(SMPD1):c.996dup (p.Phe333fs) Duplication Pathogenic 992694 GRCh37: 11:6413285-6413286
GRCh38: 11:6392055-6392056
25 SMPD1 NM_000543.5(SMPD1):c.1296_1297del (p.His432fs) Deletion Pathogenic 992703 GRCh37: 11:6414879-6414880
GRCh38: 11:6393649-6393650
26 SMPD1 NM_000543.5(SMPD1):c.1091+1G>A SNV Pathogenic 992698 GRCh37: 11:6413387-6413387
GRCh38: 11:6392157-6392157
27 SMPD1 NM_000543.5(SMPD1):c.1101del (p.Phe368fs) Deletion Pathogenic 992699 GRCh37: 11:6414450-6414450
GRCh38: 11:6393220-6393220
28 SMPD1 NM_000543.5(SMPD1):c.1054del (p.Glu352fs) Deletion Pathogenic 992696 GRCh37: 11:6413347-6413347
GRCh38: 11:6392117-6392117
29 SMPD1 NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter) SNV Pathogenic 992712 GRCh37: 11:6415547-6415547
GRCh38: 11:6394317-6394317
30 SMPD1 NM_000543.5(SMPD1):c.354del (p.Ile119fs) Deletion Pathogenic 167708 rs727504165 GRCh37: 11:6412648-6412648
GRCh38: 11:6391418-6391418
31 SMPD1 NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) SNV Pathogenic 2987 rs120074122 GRCh37: 11:6413025-6413025
GRCh38: 11:6391795-6391795
32 SMPD1 NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) SNV Pathogenic 2988 rs120074123 GRCh37: 11:6414508-6414508
GRCh38: 11:6393278-6393278
33 SMPD1 NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) SNV Pathogenic 2993 rs120074127 GRCh37: 11:6414910-6414910
GRCh38: 11:6393680-6393680
34 SMPD1 NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) SNV Pathogenic 2994 rs120074128 GRCh37: 11:6413175-6413175
GRCh38: 11:6391945-6391945
35 SMPD1 NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) SNV Pathogenic 371341 rs1057517195 GRCh37: 11:6412852-6412852
GRCh38: 11:6391622-6391622
36 SMPD1 NM_000543.5(SMPD1):c.1380del (p.His461fs) Deletion Pathogenic 969162 GRCh37: 11:6415165-6415165
GRCh38: 11:6393935-6393935
37 SMPD1 NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) SNV Pathogenic 2993 rs120074127 GRCh37: 11:6414910-6414910
GRCh38: 11:6393680-6393680
38 SMPD1 NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) SNV Pathogenic 100731 rs587779408 GRCh37: 11:6413034-6413034
GRCh38: 11:6391804-6391804
39 SMPD1 NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) SNV Pathogenic 93318 rs398123478 GRCh37: 11:6415565-6415565
GRCh38: 11:6394335-6394335
40 SMPD1 NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) SNV Pathogenic 650777 rs201550531 GRCh37: 11:6413349-6413349
GRCh38: 11:6392119-6392119
41 SMPD1 NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) SNV Pathogenic 2994 rs120074128 GRCh37: 11:6413175-6413175
GRCh38: 11:6391945-6391945
42 SMPD1 NM_000543.5(SMPD1):c.996del (p.Phe333fs) Deletion Pathogenic 2990 rs387906289 GRCh37: 11:6413286-6413286
GRCh38: 11:6392056-6392056
43 SMPD1 NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) SNV Pathogenic 2991 rs120074125 GRCh37: 11:6414531-6414531
GRCh38: 11:6393301-6393301
44 SMPD1 NM_000543.5(SMPD1):c.573del (p.Ser192fs) Deletion Pathogenic 167710 rs727504167 GRCh37: 11:6412868-6412868
GRCh38: 11:6391638-6391638
45 SMPD1 NM_000543.5(SMPD1):c.573del (p.Ser192fs) Deletion Pathogenic 167710 rs727504167 GRCh37: 11:6412868-6412868
GRCh38: 11:6391638-6391638
46 SMPD1 NM_000543.5(SMPD1):c.996del (p.Phe333fs) Deletion Pathogenic 2990 rs387906289 GRCh37: 11:6413286-6413286
GRCh38: 11:6392056-6392056
47 SMPD1 NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) Deletion Pathogenic 195086 rs794727252 GRCh37: 11:6413076-6413098
GRCh38: 11:6391846-6391868
48 SMPD1 NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) SNV Pathogenic 93318 rs398123478 GRCh37: 11:6415565-6415565
GRCh38: 11:6394335-6394335
49 SMPD1 NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) SNV Pathogenic 371341 rs1057517195 GRCh37: 11:6412852-6412852
GRCh38: 11:6391622-6391622
50 SMPD1 NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) Deletion Pathogenic 195086 rs794727252 GRCh37: 11:6413076-6413098
GRCh38: 11:6391846-6391868

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

72 (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 rs134237298
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 UGT3A1 SMPD1 PCCA NPC2 NPC1 LIPA
2
Show member pathways
11.4 NPC2 NPC1 LIPA
3 11.36 SMPD1 NPC2 NPC1 LIPA
4
Show member pathways
9.95 NPC2 NPC1 LIPA

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 lipid transport GO:0006869 9.5 NPC2 NPC1 GULP1
2 cholesterol metabolic process GO:0008203 9.43 SMPD1 NPC2 NPC1
3 cholesterol efflux GO:0033344 9.4 NPC2 NPC1
4 cholesterol transport GO:0030301 9.37 NPC2 NPC1
5 lipid metabolic process GO:0006629 9.35 PCCA NPC2 NPC1 LIPA ACOX2
6 intracellular cholesterol transport GO:0032367 9.16 NPC2 NPC1
7 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 hydrolase activity, acting on ester bonds GO:0016788 8.62 LIPA ASPA

Sources for Niemann-Pick Disease, Type B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....