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 71
Niemann-Pick Disease Type B 12 20 58 15
Niemann-Pick Disease Intermediate with Visceral Involvement and Rapid Progression 73
Niemann-Pick Disease Adult Non-Neuronopathic Form 73
Acid Sphingomyelinase Deficiency, Visceral Type 57
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 20
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
Asmd, Visceral Type 57
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®:

57 (Updated 05-Mar-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 acid sphingomyelinase deficiency, 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-HIV 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 05-Mar-2021)

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 119)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 31.7 SMPD1 NPC2 NPC1 NPB LIPA CHIT1
2 acid sphingomyelinase deficiency 31.4 SMPD1 NPC1
3 lysosomal storage disease 30.2 SMPD1 NPC2 NPC1 LIPA CHIT1
4 inherited metabolic disorder 30.1 NPC2 NPC1 LIPA
5 niemann-pick disease, type c1 30.0 SMPD1 NPC2 NPC1 LIPA APBB1
6 farber lipogranulomatosis 29.9 SMPD1 NPC1
7 lipid storage disease 29.9 SMPD1 NPC2 NPC1 LIPA CHIT1
8 gaucher's disease 29.9 SMPD1 NPC2 NPC1 LIPA CHIT1
9 mucopolysaccharidosis-plus syndrome 29.7 SMPD1 NPC2 NPC1 LIPA CHIT1
10 sphingolipidosis 29.6 SMPD1 NPC2 NPC1 LIPA CHIT1
11 niemann-pick disease, type a 29.5 SMPD1 NPC2 NPC1 NPB LIPA FAM223A
12 body mass index quantitative trait locus 11 11.0
13 acyl-coa dehydrogenase, medium-chain, deficiency of 10.9
14 gm1-gangliosidosis, type iii 10.9
15 chromosome xp21 deletion syndrome 10.9
16 gallbladder papillomatosis 10.9
17 interstitial lung disease 10.6
18 lung disease 10.6
19 splenomegaly 10.5
20 thrombocytopenia 10.5
21 sea-blue histiocyte disease 10.4
22 autosomal recessive disease 10.4
23 histiocytosis 10.4
24 hypersplenism 10.4
25 triiodothyronine receptor auxiliary protein 10.3
26 liver disease 10.3
27 niemann-pick disease type c, juvenile neurologic onset 10.2 NPC2 NPC1
28 niemann-pick disease type c, adult neurologic onset 10.2 NPC2 NPC1
29 niemann-pick disease type c, severe early infantile neurologic onset 10.2 NPC2 NPC1
30 niemann-pick disease type c, late infantile neurologic onset 10.2 NPC2 NPC1
31 niemann-pick disease type c, severe perinatal form 10.2 NPC2 NPC1
32 arteries, anomalies of 10.2
33 cleft palate, isolated 10.2
34 emphysema, congenital lobar 10.2
35 gilbert syndrome 10.2
36 hypercholesterolemia, familial, 1 10.2
37 hypertriglyceridemia, familial 10.2
38 myositis 10.2
39 parkinson disease, late-onset 10.2
40 graft-versus-host disease 10.2
41 lipoprotein quantitative trait locus 10.2
42 respiratory failure 10.2
43 pulmonary alveolar proteinosis 10.2
44 dengue disease 10.2
45 neutropenia 10.2
46 bronchopneumonia 10.2
47 pancytopenia 10.2
48 polyclonal hypergammaglobulinemia 10.2
49 bilirubin metabolic disorder 10.2
50 glycogen storage disease 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 05-Mar-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 05-Mar-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-HIV Agents Phase 4
3 Cardiac Glycosides Phase 4
4 Anti-Infective Agents Phase 4
5 Antiviral Agents Phase 4
6 Anti-Retroviral Agents Phase 4
7 Hypoglycemic 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 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
12
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
13
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
14
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
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 Immunosuppressive Agents Phase 2, Phase 3
18 Antirheumatic Agents Phase 2, Phase 3
19 Alkylating Agents Phase 2, Phase 3
20 Antilymphocyte Serum Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Pharmaceutical Solutions Phase 2, Phase 3
23
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
24
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
25
alemtuzumab Approved, Investigational Phase 2 216503-57-0
26
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
27
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
28
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
29 Protective Agents Phase 1, Phase 2
30 Respiratory System Agents Phase 1, Phase 2
31 Antioxidants Phase 1, Phase 2
32 N-monoacetylcystine Phase 1, Phase 2
33 Expectorants Phase 1, Phase 2
34 Antidotes Phase 1, Phase 2
35 Histone Deacetylase Inhibitors Phase 1, Phase 2
36
Bilirubin Phase 1, Phase 2 635-65-4 5280352
37 Liver Extracts Phase 1, Phase 2
38 Antineoplastic Agents, Immunological Phase 2
39
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106
40
Lithium carbonate Approved Early Phase 1 554-13-2
41 Antidepressive Agents Early Phase 1
42 Psychotropic Drugs Early Phase 1
43 Immunologic Factors
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 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
6 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
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 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
17 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
18 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
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 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Completed NCT03883750
33 Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick Disease Through the Eyes of Patients and Families Completed NCT04469894
34 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
35 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
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, Bone, Cerebellum, Heart

Publications for Niemann-Pick Disease, Type B

Articles related to Niemann-Pick Disease, Type B:

(show top 50) (show all 134)
# Title Authors PMID Year
1
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures. 6 57 61
11932991 2002
2
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. 6 57
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. 57 6
15877209 2005
4
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. 6 57
12369017 2002
5
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. 57 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 6 54
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. 61 57
27198631 2016
9
Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells. 61 57
1442900 1992
10
Evidence of polyglandular involvement in Niemann-Pick disease type B. 57 61
2820735 1987
11
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
12
Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver. 57 61
6264784 1981
13
Morbidity and mortality in type B Niemann-Pick disease. 57
23412609 2013
14
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. 57
21502868 2011
15
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. 57
20111001 2010
16
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. 57
17632693 2007
17
Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol. 6
12607113 2003
18
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. 57
10942425 2000
19
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. 6
9266408 1997
20
Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. 6
8401540 1993
21
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
1618760 1992
22
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
23
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 57
2023926 1991
24
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. 57
2120445 1990
25
Successful therapy of Niemann-Pick disease by implantation of human amniotic membrane. 57
3037739 1987
26
Adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: report of a case confirmed by lipid analysis and enzyme assays. 57
4073013 1985
27
Expression of HLA antigens, beta 2-microglobulin and enzymes by human amniotic epithelial cells. 57
6173762 1982
28
Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two cases reports and review of the literature. 57
7236073 1981
29
A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase. 57
216805 1978
30
Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann-Pick disease. 57
100330 1978
31
Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation. 57
208852 1978
32
Pathogenesis of one variant of sea-blue histiocytosis. 57
1081167 1975
33
Familial sea-blue histiocytes with acid phosphatemia. A syndrome resembling Gaucher disease: the Lewis variant. 57
4123476 1973
34
Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. 57
6015567 1967
35
LIPID HISTOCHEMISTRY AND ELECTRON MICROSCOPY IN ADULT NIEMANN-PICK DISEASE. 57
14246098 1964
36
Adult lipidosis resembling Niemann-Pick's disease. 57
13138710 1954
37
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? 61 54
16802107 2006
38
[Bone marrow manifestation of Niemann-Pick disease. A review of histiocytic proliferations of the bone marrow]. 61 54
12436303 2002
39
[A female patient with splenomegaly, interstitial pneumopathy and giant foam cells in bone marrow]. 54 61
10515006 1999
40
Confocal LASER endomicroscopy in Niemann-Pick disease type B. 61
32943409 2021
41
Renal Thrombotique microangiopathy: An unusual renal involvement in Niemann-Pick disease type B. 61
33363925 2020
42
[Niemann-Pick disease type B with hypersplenism and cleft palate]. 61
33333704 2020
43
Niemann-Pick Disease Type B in Traumatic Splenic Rupture. 61
32541392 2020
44
Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B). 61
32759889 2020
45
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management. 61
32375665 2020
46
The Effects of Liver Transplantation in Children With Niemann-Pick Disease Type B. 61
30912297 2019
47
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
48
Acid sphingomyelinase deficiency (Niemann‒Pick disease Type B) as an inflammatory disease. 61
30846233 2019
49
Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation. 61
30818011 2019
50
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

Variations for Niemann-Pick Disease, Type B

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

6 (show top 50) (show all 202)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMPD1 NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter) SNV Pathogenic 837822 11:6414894-6414894 11:6393664-6393664
2 SMPD1 NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter) SNV Pathogenic 857473 11:6414476-6414476 11:6393246-6393246
3 SMPD1 NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) SNV Pathogenic 633427 rs761308217 11:6413268-6413268 11:6392038-6392038
4 SMPD1 NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) SNV Pathogenic 813480 rs755160837 11:6414606-6414606 11:6393376-6393376
5 SMPD1 NM_000543.5(SMPD1):c.1583_1584del (p.Ile528fs) Deletion Pathogenic 944778 11:6415523-6415524 11:6394293-6394294
6 SMPD1 NM_000543.5(SMPD1):c.110_116del (p.Leu37fs) Deletion Pathogenic 959328 11:6411938-6411944 11:6390708-6390714
7 SMPD1 NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) SNV Pathogenic 188840 rs786204506 11:6411924-6411924 11:6390694-6390694
8 SMPD1 NM_000543.5(SMPD1):c.1380del (p.His461fs) Deletion Pathogenic 969162 11:6415165-6415165 11:6393935-6393935
9 SMPD1 NM_000543.5(SMPD1):c.1108dup (p.Ala370fs) Duplication Pathogenic 640937 rs1590743683 11:6414461-6414462 11:6393231-6393232
10 SMPD1 NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs) Duplication Pathogenic 965494 11:6412992-6412993 11:6391762-6391763
11 SMPD1 NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) SNV Pathogenic 529233 rs1554934193 11:6412804-6412804 11:6391574-6391574
12 SMPD1 NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) SNV Pathogenic 554977 rs559088058 11:6414487-6414487 11:6393257-6393257
13 SMPD1 NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) Deletion Pathogenic 813421 rs748411156 11:6415167-6415168 11:6393937-6393938
14 SMPD1 NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) SNV Pathogenic 556092 rs751269562 11:6412142-6412142 11:6390912-6390912
15 SMPD1 NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr) SNV Pathogenic 813478 rs752148586 11:6413142-6413142 11:6391912-6391912
16 SMPD1 NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu) SNV Pathogenic 502573 rs760203204 11:6412846-6412846 11:6391616-6391616
17 SMPD1 NM_000543.5(SMPD1):c.354del (p.Ile119fs) Deletion Pathogenic 167708 rs727504165 11:6412648-6412648 11:6391418-6391418
18 SMPD1 NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs) Duplication Pathogenic 992675 11:6411883-6411884 11:6390653-6390654
19 SMPD1 NM_000543.5(SMPD1):c.199dup (p.Gln67fs) Duplication Pathogenic 992677 11:6412023-6412024 11:6390793-6390794
20 SMPD1 NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs) Indel Pathogenic 992678 11:6412031-6412033 11:6390801-6390803
21 SMPD1 NM_000543.5(SMPD1):c.499del (p.Cys167fs) Deletion Pathogenic 992681 11:6412794-6412794 11:6391564-6391564
22 SMPD1 NM_000543.5(SMPD1):c.572dup (p.Pro191_Ser192insTer) Duplication Pathogenic 992682 11:6412862-6412863 11:6391632-6391633
23 SMPD1 NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) SNV Pathogenic 371341 rs1057517195 11:6412852-6412852 11:6391622-6391622
24 SMPD1 NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) SNV Pathogenic 2993 rs120074127 11:6414910-6414910 11:6393680-6393680
25 SMPD1 NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) SNV Pathogenic 100731 rs587779408 11:6413034-6413034 11:6391804-6391804
26 SMPD1 NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) SNV Pathogenic 93318 rs398123478 11:6415565-6415565 11:6394335-6394335
27 SMPD1 NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) SNV Pathogenic 650777 rs201550531 11:6413349-6413349 11:6392119-6392119
28 SMPD1 NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) SNV Pathogenic 2994 rs120074128 11:6413175-6413175 11:6391945-6391945
29 SMPD1 NM_000543.5(SMPD1):c.996del (p.Phe333fs) Deletion Pathogenic 2990 rs387906289 11:6413286-6413286 11:6392056-6392056
30 SMPD1 NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) SNV Pathogenic 2991 rs120074125 11:6414531-6414531 11:6393301-6393301
31 SMPD1 NM_000543.5(SMPD1):c.573del (p.Ser192fs) Deletion Pathogenic 167710 rs727504167 11:6412868-6412868 11:6391638-6391638
32 SMPD1 NM_000543.5(SMPD1):c.573del (p.Ser192fs) Deletion Pathogenic 167710 rs727504167 11:6412868-6412868 11:6391638-6391638
33 SMPD1 NM_000543.5(SMPD1):c.996del (p.Phe333fs) Deletion Pathogenic 2990 rs387906289 11:6413286-6413286 11:6392056-6392056
34 SMPD1 NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) SNV Pathogenic 93318 rs398123478 11:6415565-6415565 11:6394335-6394335
35 SMPD1 NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) SNV Pathogenic 371341 rs1057517195 11:6412852-6412852 11:6391622-6391622
36 SMPD1 NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) Deletion Pathogenic 195086 rs794727252 11:6413076-6413098 11:6391846-6391868
37 SMPD1 NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) Deletion Pathogenic 189096 rs786204694 11:6412832-6412833 11:6391602-6391603
38 SMPD1 NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) SNV Pathogenic 371576 rs750779804 11:6413043-6413043 11:6391813-6391813
39 SMPD1 NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) SNV Pathogenic 2992 rs120074126 11:6414850-6414850 11:6393620-6393620
40 APBB1 NM_000543.5(SMPD1):c.1826_1828GCC[1] (p.Arg610del) Microsatellite Pathogenic 198093 rs120074118 11:6415767-6415769 11:6394537-6394539
41 SMPD1 NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) SNV Pathogenic 93315 rs182812968 11:6415211-6415211 11:6393981-6393981
42 APBB1 NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) SNV Pathogenic 2980 rs120074117 11:6415434-6415434 11:6394204-6394204
43 APBB1 NM_000543.5(SMPD1):c.1826_1828GCC[1] (p.Arg610del) Microsatellite Pathogenic 198093 rs120074118 11:6415767-6415769 11:6394537-6394539
44 SMPD1 NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) SNV Pathogenic 93315 rs182812968 11:6415211-6415211 11:6393981-6393981
45 SMPD1 NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) SNV Pathogenic 188955 rs370129081 11:6415746-6415746 11:6394516-6394516
46 SMPD1 NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) SNV Pathogenic 288073 rs372287825 11:6414460-6414460 11:6393230-6393230
47 SMPD1 NM_000543.5(SMPD1):c.518dup (p.Ser174fs) Duplication Pathogenic 189153 rs786204733 11:6412809-6412810 11:6391579-6391580
48 SMPD1 NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) Microsatellite Pathogenic 370363 rs1057516432 11:6414493-6414494 11:6393263-6393264
49 SMPD1 NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) SNV Pathogenic 370432 rs989639224 11:6412983-6412983 11:6391753-6391753
50 APBB1 NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) SNV Pathogenic 2980 rs120074117 11:6415434-6415434 11:6394204-6394204

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 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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