NPDB
MCID: NMN016
MIFTS: 62

Niemann-Pick Disease, Type B (NPDB)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Niemann-Pick Disease, Type B

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

Name: Niemann-Pick Disease, Type B 57 28 12 5 38 71
Niemann-Pick Disease Type B 11 19 58 14
Niemann-Pick Disease Intermediate with Visceral Involvement and Rapid Progression 73
Chronic Visceral Acid Sphingomyelinase Deficiency 58
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 53
Niemann-Pick Disease, Type E 71
Sphingomyelinase Deficiency 73
Niemann Pick Disease Type B 19
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
Chronic Visceral Asmd 58
Niemann-Pick Diseases 71
Asmd, Visceral Type 57
Npd-B 58
Npdb 73
Npb 73

Characteristics:


Inheritance:

Niemann-Pick Disease, Type B: Autosomal recessive 57
Chronic Visceral Acid Sphingomyelinase Deficiency: Autosomal recessive 58

Age Of Onset:

Chronic Visceral Acid Sphingomyelinase Deficiency: Childhood 58

Age Of Death:

Chronic Visceral Acid Sphingomyelinase Deficiency: young Adult 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable phenotype
onset in infancy or childhood
more common in ashkenazi jews
allelic disorder to niemann-pick disease type a


Classifications:

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


Summaries for Niemann-Pick Disease, Type B

UniProtKB/Swiss-Prot: 73 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.

MalaCards based summary: Niemann-Pick Disease, Type B, also known as niemann-pick disease type b, is related to pick disease of brain and niemann-pick disease, and has symptoms including constipation, vomiting and muscle weakness. An important gene associated with Niemann-Pick Disease, Type B is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. 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

GARD: 19 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 (genetic changes or variants) in the SMPD1 gene. It is inherited in an autosomal recessive fashion.

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 24-Oct-2022)

Orphanet: 58 A rare autosomal recessive, chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, interstitial lung disease and absence of neurodegenerative disorders.

Disease Ontology: 11 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.

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 179)
# Related Disease Score Top Affiliating Genes
1 pick disease of brain 31.8 SMPD1 NPC2 NPC1
2 niemann-pick disease 31.3 SMPD1 PSAP NPC2 NPC1 NPB LIPA
3 sea-blue histiocyte disease 30.9 SMPD1 LIPA
4 scheie syndrome 30.1 NPC2 NPC1 GBA1
5 narcolepsy 1 30.0 NPC2 NPC1
6 niemann-pick disease, type c1 30.0 SMPD1 PSAP NPC2 NPC1 LIPA APBB1
7 niemann-pick disease, type a 30.0 SMPD1 PSAP NPC2 NPC1 NPB LIPA
8 lysosomal storage disease 30.0 SMPD1 PSAP NPC2 NPC1 LIPA GBA1
9 lipid storage disease 29.7 SMPD1 NPC2 NPC1 LIPA GBA1 CYP7A1
10 fabry disease 29.6 PSAP GBA1 CHIT1
11 gaucher disease, type i 29.5 SMPD1 PSAP NPC2 NPC1 GBA1 CHIT1
12 farber lipogranulomatosis 29.4 SMPD1 PSAP NPC2 NPC1
13 gaucher's disease 29.3 SMPD1 PSAP NPC2 NPC1 LIPA GBA1
14 sphingolipidosis 29.2 SMPD1 PSAP NPC2 NPC1 LIPA GBA1
15 body mass index quantitative trait locus 11 11.1
16 colorectal adenocarcinoma 10.9
17 gallbladder papillomatosis 10.9
18 acid sphingomyelinase deficiency 10.8
19 interstitial lung disease 10.6
20 splenomegaly 10.6
21 anterior segment dysgenesis 1 10.5
22 anterior segment dysgenesis 10.5
23 lung disease 10.5
24 histiocytosis 10.4
25 hypersplenism 10.4
26 inherited metabolic disorder 10.4
27 lysosomal disease 10.4
28 chronic neurovisceral acid sphingomyelinase deficiency 10.4
29 hypercholesterolemia, familial, 1 10.3
30 hypertriglyceridemia 1 10.3
31 hypoalphalipoproteinemia, primary, 2 10.3
32 respiratory failure 10.3
33 familial hyperlipidemia 10.3
34 bilirubin metabolic disorder 10.3
35 lipid metabolism disorder 10.3
36 liver disease 10.3
37 bronchiectasis 10.3
38 twin-reversed arterial perfusion sequence 10.3
39 niemann-pick disease type c, juvenile neurologic onset 10.3 NPC2 NPC1
40 niemann-pick disease type c, adult neurologic onset 10.3 NPC2 NPC1
41 niemann-pick disease type c, severe early infantile neurologic onset 10.3 NPC2 NPC1
42 niemann-pick disease type c, late infantile neurologic onset 10.3 NPC2 NPC1
43 niemann-pick disease type c, severe perinatal form 10.3 NPC2 NPC1
44 cerebral lipidosis 10.2 SMPD1 NPC1 CHIT1
45 arteries, anomalies of 10.2
46 cleft palate, isolated 10.2
47 emphysema, congenital lobar 10.2
48 fibrodysplasia ossificans progressiva 10.2
49 gilbert syndrome 10.2
50 hyperlipidemia, familial combined, 3 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 30 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000938
2 splenomegaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0001744
3 hepatomegaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0002240
4 delayed skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002750
5 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
6 delayed puberty 58 30 Frequent (33%) Frequent (79-30%)
HP:0000823
7 hypertriglyceridemia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002155
8 cherry red spot of the macula 58 30 Frequent (33%) Frequent (79-30%)
HP:0010729
9 osteoporosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000939
10 hypersplenism 58 30 Frequent (33%) Frequent (79-30%)
HP:0001971
11 increased ldl cholesterol concentration 58 30 Very rare (1%) Frequent (79-30%)
HP:0003141
12 decreased hdl cholesterol concentration 58 30 Very rare (1%) Frequent (79-30%)
HP:0003233
13 progressive pulmonary function impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0006520
14 abnormal blood gas level 58 30 Frequent (33%) Frequent (79-30%)
HP:0012415
15 abnormal pulmonary interstitial morphology 30 Very rare (1%) HP:0006530
16 peripheral neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009830
17 delayed gross motor development 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002194
18 decreased serum insulin-like growth factor 1 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030353
19 respiratory failure requiring assisted ventilation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004887
20 intellectual disability 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001249
21 nystagmus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000639
22 ataxia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001251
23 abnormal heart valve morphology 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001654
24 attention deficit hyperactivity disorder 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007018
25 specific learning disability 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001328
26 cirrhosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001394
27 cholelithiasis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001081
28 thrombocytopenia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001873
29 bipolar affective disorder 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007302
30 hepatic failure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001399
31 abnormal bleeding 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001892
32 abnormal cerebellum morphology 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001317
33 neoplasm of the liver 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002896
34 coronary artery atherosclerosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001677
35 autoimmune thrombocytopenia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001973
36 systemic lupus erythematosus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002725
37 pathologic fracture 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002756
38 apraxia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002186
39 acute promyelocytic leukemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004836
40 anemia 30 Very rare (1%) HP:0001903
41 arthralgia 30 Very rare (1%) HP:0002829
42 decreased dlco 30 Very rare (1%) HP:0045051
43 depression 30 Very rare (1%) HP:0000716
44 generalized non-motor (absence) seizure 30 Very rare (1%) HP:0002121
45 depressivity 58 Very rare (<4-1%)
46 behavioral abnormality 58 Very rare (<4-1%)
47 recurrent respiratory infections 30 HP:0002205
48 dyspnea 30 HP:0002094
49 hyperlipidemia 58 Frequent (79-30%)
50 abnormal circulating lipid concentration 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 acid sphingomyelinase activity
decreased hdl cholesterol
electron microscopy of foam cells shows lamellar inclusions
increased triglycerides
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 24-Oct-2022)

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


constipation; vomiting; muscle weakness; dyspnea

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.02 APBB1 ASPA GBA1 LIPA MFSD8 NPC1
2 growth/size/body region MP:0005378 9.93 APBB1 ASPA CYP7A1 GBA1 LIPA NPB
3 liver/biliary system MP:0005370 9.91 CYP7A1 GBA1 LIPA MFSD8 NPC1 NPC2
4 behavior/neurological MP:0005386 9.77 APBB1 ASPA CYP7A1 GBA1 LIPA MFSD8
5 respiratory system MP:0005388 9.17 GBA1 LIPA NPC1 NPC2 PSAP SGPL1

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 45)
# 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 Antiviral Agents Phase 4
5 Anti-Infective Agents Phase 4
6 Glycoside Hydrolase Inhibitors Phase 4
7 Anti-Retroviral Agents Phase 4
8 Hypoglycemic Agents 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 phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
12
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
13
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 4894 5755
14
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5 1875
15
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 4159 6741
16 Orange Approved Phase 3
17
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7 4897
18 Antineoplastic Agents, Alkylating Phase 2, Phase 3
19 Antirheumatic Agents Phase 2, Phase 3
20 Immunosuppressive Agents Phase 2, Phase 3
21 Alkylating Agents Phase 2, Phase 3
22 Immunologic Factors Phase 2, Phase 3
23
Methylprednisolone Acetate Phase 2, Phase 3 584547
24 Antilymphocyte Serum Phase 2, Phase 3
25 Pharmaceutical Solutions Phase 2, Phase 3
26
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
27
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 581 12035
28
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
29
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 594 5862
30
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
31
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
32 Histone Deacetylase Inhibitors Phase 1, Phase 2
33 N-monoacetylcystine Phase 1, Phase 2
34 Expectorants Phase 1, Phase 2
35 Antidotes Phase 1, Phase 2
36 Protective Agents Phase 1, Phase 2
37 Respiratory System Agents Phase 1, Phase 2
38 Antioxidants Phase 1, Phase 2
39
bilirubin Phase 1, Phase 2 635-65-4 5280352
40 Antineoplastic Agents, Immunological Phase 2
41 Liver Extracts Phase 1, Phase 2
42
D-Leucine Experimental, Investigational, Nutraceutical Phase 2 328-38-1, 61-90-5 439524 6106
43
Lithium carbonate Approved Early Phase 1 554-13-2
44 Antidepressive Agents Early Phase 1
45 Psychotropic Drugs Early Phase 1

Interventional clinical trials:

(show top 50) (show all 51)
# 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 Completed NCT03910621 Phase 4 Miglustat
2 Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Completed NCT03643562 Phase 3 Adrabetadex
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 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
5 Phase 3, Double-blind, Randomized, Placebo-controlled, Parallel-group, Multicenter Study to Evaluate the Safety, Tolerability and Efficacy of 2000mg/kg of Trappsol®Cyclo™ (Hydroxypropyl-B-cyclodextrin) and Standard of Care Compared to Placebo and Standard of Care in Patients With Niemann-Pick Disease Type C1 (TransportNPC) Recruiting NCT04860960 Phase 3 Hydroxypropyl-beta-cyclodextrin;Placebo
6 Effects of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C (NPC): A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover Study Recruiting NCT05163288 Phase 3 N-Acetyl-L-Leucine
7 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
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 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 Parts A/B: Adrabetadex
10 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 Terminated NCT04958642 Phase 2, Phase 3 Adrabetadex
11 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 Terminated NCT03879655 Phase 2, Phase 3 VTS-270
12 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
13 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 Completed NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
14 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
15 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
16 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
17 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
18 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
19 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
20 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
21 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
22 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
23 Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 Terminated NCT03887533 Phase 1, Phase 2 VTS-270
24 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
25 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
26 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
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 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
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 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
32 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
33 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
34 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
35 a Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 Type Unknown status NCT03201627 Early Phase 1 Lithium Carbonate
36 Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD) Approved for marketing NCT04877132 olipudase alfa (GZ402665)
37 Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick Disease Through the Eyes of Patients and Families Completed NCT04469894
38 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Completed NCT03883750
39 Positron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
40 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
41 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
42 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
43 An Observational National Pediatric Study on Prevalence of Unexplained Splenomegaly Recruiting NCT04845958
44 Acid Sphingomyelinase Deficiency (ASMD): Data Analysis of Adult and Pediatric Patients on Early Access to Olipudase Alfa in France Recruiting NCT05359276 Olipudase alfa
45 Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C Recruiting NCT05588167
46 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Active, not recruiting NCT04106544
47 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Active, not recruiting NCT01306604
48 Early Access Program With Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US Available NCT04316637 Arimoclomol
49 ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program Enrolling by invitation NCT05368038
50 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

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 28 SMPD1

Anatomical Context for Niemann-Pick Disease, Type B

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

MalaCards : Liver, Bone Marrow, Lung, Spleen, Bone, Brain, Cerebellum
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System

Publications for Niemann-Pick Disease, Type B

Articles related to Niemann-Pick Disease, Type B:

(show top 50) (show all 405)
# Title Authors PMID Year
1
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. 62 57 5
15877209 2005
2
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures. 62 57 5
11932991 2002
3
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. 57 5
21502868 2011
4
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. 57 5
19405096 2009
5
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. 57 5
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 5
1618760 1992
7
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. 57 5
1301192 1992
8
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 57 5
2023926 1991
9
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. 53 62 5
15545621 2004
10
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. 53 62 5
12694237 2003
11
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. 53 62 5
8225311 1993
12
Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report. 62 5
32714837 2020
13
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population. 62 5
31122880 2019
14
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up. 62 5
30795770 2019
15
The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency. 62 5
30153451 2018
16
[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases]. 62 5
27884455 2017
17
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. 62 57
27198631 2016
18
Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses. 62 5
26851525 2016
19
Pathogenic Compound Heterozygous Mutations in a Mexican Mestizo Patient with Niemann-Pick Disease Type B. 62 5
29485843 2016
20
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. 62 5
26049896 2015
21
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. 62 5
24643943 2014
22
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. 62 5
23356216 2013
23
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. 62 5
22818240 2012
24
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. 62 5
18625664 2008
25
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. 62 5
17876723 2007
26
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. 62 5
17011332 2006
27
Clinical findings in Niemann-Pick disease type B. 62 5
16472269 2006
28
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. 62 5
15241805 2004
29
Ocular manifestations of Niemann-Pick disease type B. 62 5
15234149 2004
30
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. 62 5
9266408 1997
31
Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells. 62 57
1442900 1992
32
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. 62 5
1718266 1991
33
Evidence of polyglandular involvement in Niemann-Pick disease type B. 62 57
2820735 1987
34
Adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: report of a case confirmed by lipid analysis and enzyme assays. 62 57
4073013 1985
35
Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development. 62 57
3933867 1985
36
Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver. 62 57
6264784 1981
37
Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation. 62 57
208852 1978
38
Pathogenesis of one variant of sea-blue histiocytosis. 62 57
1081167 1975
39
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B. 5
33675270 2021
40
Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China. 5
31965297 2020
41
Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients. 5
32292456 2020
42
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease. 5
30788890 2019
43
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. 5
29140481 2017
44
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 5
28600779 2017
45
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. 5
27338287 2016
46
Crystal structure of mammalian acid sphingomyelinase. 5
27435900 2016
47
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. 5
26790753 2016
48
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 5
26981555 2016
49
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 5
26499107 2016
50
The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews. 5
26169695 2015

Variations for Niemann-Pick Disease, Type B

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

5 (show top 50) (show all 495)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMPD1 NM_000543.5(SMPD1):c.1314C>A (p.Ser438Arg) SNV Pathogenic
2983 rs267607073 GRCh37: 11:6414897-6414897
GRCh38: 11:6393667-6393667
2 SMPD1 NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) DEL Pathogenic
813421 rs748411156 GRCh37: 11:6415167-6415168
GRCh38: 11:6393937-6393938
3 SMPD1 NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) SNV Pathogenic
556092 rs751269562 GRCh37: 11:6412142-6412142
GRCh38: 11:6390912-6390912
4 SMPD1 NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs) DUP Pathogenic
992675 rs1847857299 GRCh37: 11:6411883-6411884
GRCh38: 11:6390653-6390654
5 SMPD1 NM_000543.5(SMPD1):c.625del (p.Leu209fs) DEL Pathogenic
992684 rs1847921591 GRCh37: 11:6412919-6412919
GRCh38: 11:6391689-6391689
6 SMPD1 NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter) SNV Pathogenic
992685 rs1847921909 GRCh37: 11:6412927-6412927
GRCh38: 11:6391697-6391697
7 SMPD1 NM_000543.5(SMPD1):c.199dup (p.Gln67fs) DUP Pathogenic
992677 rs1847871015 GRCh37: 11:6412023-6412024
GRCh38: 11:6390793-6390794
8 SMPD1 NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs) INDEL Pathogenic
992678 rs1847871996 GRCh37: 11:6412031-6412033
GRCh38: 11:6390801-6390803
9 SMPD1 NM_000543.5(SMPD1):c.499del (p.Cys167fs) DEL Pathogenic
992681 rs1847910379 GRCh37: 11:6412794-6412794
GRCh38: 11:6391564-6391564
10 SMPD1 NM_000543.5(SMPD1):c.572dup (p.Pro191_Ser192insTer) DUP Pathogenic
992682 rs1590738506 GRCh37: 11:6412862-6412863
GRCh38: 11:6391632-6391633
11 SMPD1 NM_000543.5(SMPD1):c.996dup (p.Phe333fs) DUP Pathogenic
Pathogenic
Pathogenic
992694 rs387906289 GRCh37: 11:6413285-6413286
GRCh38: 11:6392055-6392056
12 SMPD1 NM_000543.5(SMPD1):c.1296_1297del (p.His432fs) DEL Pathogenic
992703 rs1848042860 GRCh37: 11:6414879-6414880
GRCh38: 11:6393649-6393650
13 SMPD1 NM_000543.5(SMPD1):c.1054del (p.Glu352fs) DEL Pathogenic
992696 rs1847952502 GRCh37: 11:6413347-6413347
GRCh38: 11:6392117-6392117
14 SMPD1 NM_000543.5(SMPD1):c.1101del (p.Phe368fs) DEL Pathogenic
Pathogenic
992699 rs1422720020 GRCh37: 11:6414450-6414450
GRCh38: 11:6393220-6393220
15 SMPD1 NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser) SNV Pathogenic
1173968 GRCh37: 11:6412963-6412963
GRCh38: 11:6391733-6391733
16 SMPD1 NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter) SNV Pathogenic
992712 rs1848088118 GRCh37: 11:6415547-6415547
GRCh38: 11:6394317-6394317
17 SMPD1 NM_000543.5(SMPD1):c.106dup (p.Val36fs) DUP Pathogenic
813473 rs1590735238 GRCh37: 11:6411932-6411933
GRCh38: 11:6390702-6390703
18 SMPD1 NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter) SNV Pathogenic
813479 rs1470998208 GRCh37: 11:6413320-6413320
GRCh38: 11:6392090-6392090
19 SMPD1 NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter) SNV Pathogenic
1353540 GRCh37: 11:6411995-6411995
GRCh38: 11:6390765-6390765
20 SMPD1 NM_000543.5(SMPD1):c.1216C>T (p.Gln406Ter) SNV Pathogenic
1372840 GRCh37: 11:6414570-6414570
GRCh38: 11:6393340-6393340
21 SMPD1 NM_000543.5(SMPD1):c.1643_1644insA (p.Asn549fs) INSERT Pathogenic
1430049 GRCh37: 11:6415584-6415585
GRCh38: 11:6394354-6394355
22 SMPD1 NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter) SNV Pathogenic
1427800 GRCh37: 11:6413037-6413037
GRCh38: 11:6391807-6391807
23 SMPD1 NM_000543.5(SMPD1):c.820del (p.Met274fs) DEL Pathogenic
1420134 GRCh37: 11:6413115-6413115
GRCh38: 11:6391885-6391885
24 SMPD1 NM_000543.5(SMPD1):c.1363C>T (p.Gln455Ter) SNV Pathogenic
1455924 GRCh37: 11:6415148-6415148
GRCh38: 11:6393918-6393918
25 SMPD1 NM_000543.5(SMPD1):c.39del (p.Arg14fs) DEL Pathogenic
1460100 GRCh37: 11:6411864-6411864
GRCh38: 11:6390634-6390634
26 SMPD1 NM_000543.5(SMPD1):c.208_227del (p.Pro70fs) DEL Pathogenic
1456733 GRCh37: 11:6412033-6412052
GRCh38: 11:6390803-6390822
27 SMPD1 NM_000543.5(SMPD1):c.1171A>C (p.Asn391His) SNV Pathogenic
1173973 GRCh37: 11:6414525-6414525
GRCh38: 11:6393295-6393295
28 SMPD1 NM_000543.5(SMPD1):c.1032T>G (p.Tyr344Ter) SNV Pathogenic
1370114 GRCh37: 11:6413327-6413327
GRCh38: 11:6392097-6392097
29 SMPD1 NM_000543.5(SMPD1):c.43del (p.Ser15fs) DEL Pathogenic
1386053 GRCh37: 11:6411871-6411871
GRCh38: 11:6390641-6390641
30 SMPD1 NM_000543.5(SMPD1):c.580_587dup (p.Gly197fs) DUP Pathogenic
1459672 GRCh37: 11:6412868-6412869
GRCh38: 11:6391638-6391639
31 SMPD1 NM_000543.5(SMPD1):c.477_483dup (p.Leu162fs) DUP Pathogenic
1452689 GRCh37: 11:6412765-6412766
GRCh38: 11:6391535-6391536
32 SMPD1 NM_000543.5(SMPD1):c.572del (p.Pro191fs) DEL Pathogenic
1453617 GRCh37: 11:6412863-6412863
GRCh38: 11:6391633-6391633
33 SMPD1 NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter) SNV Pathogenic
837822 rs1848043657 GRCh37: 11:6414894-6414894
GRCh38: 11:6393664-6393664
34 SMPD1 NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter) SNV Pathogenic
857473 rs1848015403 GRCh37: 11:6414476-6414476
GRCh38: 11:6393246-6393246
35 SMPD1 NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs) DUP Pathogenic
965494 rs1847925196 GRCh37: 11:6412992-6412993
GRCh38: 11:6391762-6391763
36 SMPD1 NM_000543.5(SMPD1):c.193dup (p.Ser65fs) DUP Pathogenic
1451535 GRCh37: 11:6412018-6412019
GRCh38: 11:6390788-6390789
37 SMPD1 NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) SNV Pathogenic
550117 rs1205990349 GRCh37: 11:6411856-6411856
GRCh38: 11:6390626-6390626
38 SMPD1 NM_000543.5(SMPD1):c.766dup (p.Leu256fs) DUP Pathogenic
813477 rs1018556947 GRCh37: 11:6413057-6413058
GRCh38: 11:6391827-6391828
39 SMPD1 NM_000543.5(SMPD1):c.1108dup (p.Ala370fs) DUP Pathogenic
640937 rs1590743683 GRCh37: 11:6414461-6414462
GRCh38: 11:6393231-6393232
40 SMPD1 NM_000543.5(SMPD1):c.1547A>G (p.His516Arg) SNV Pathogenic
663763 rs754979734 GRCh37: 11:6415488-6415488
GRCh38: 11:6394258-6394258
41 SMPD1 NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu) SNV Pathogenic
502573 rs760203204 GRCh37: 11:6412846-6412846
GRCh38: 11:6391616-6391616
42 SMPD1 NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) SNV Pathogenic
554977 rs559088058 GRCh37: 11:6414487-6414487
GRCh38: 11:6393257-6393257
43 SMPD1 NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) DEL Pathogenic
371029 rs1057516949 GRCh37: 11:6411977-6411980
GRCh38: 11:6390747-6390750
44 SMPD1 NM_000543.5(SMPD1):c.110_116del (p.Leu37fs) DEL Pathogenic
959328 rs1847863441 GRCh37: 11:6411938-6411944
GRCh38: 11:6390708-6390714
45 SMPD1 NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr) SNV Pathogenic
Uncertain Significance
813478 rs752148586 GRCh37: 11:6413142-6413142
GRCh38: 11:6391912-6391912
46 SMPD1 NM_000543.5(SMPD1):c.7del (p.Arg3fs) DEL Pathogenic
553962 rs281860663 GRCh37: 11:6411832-6411832
GRCh38: 11:6390602-6390602
47 SMPD1 NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg) SNV Pathogenic
982662 rs1847910654 GRCh37: 11:6412797-6412797
GRCh38: 11:6391567-6391567
48 SMPD1 NM_000543.5(SMPD1):c.175del (p.Ala59fs) DEL Pathogenic
1073151 GRCh37: 11:6412002-6412002
GRCh38: 11:6390772-6390772
49 SMPD1 NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) SNV Pathogenic
Likely Pathogenic
2987 rs120074122 GRCh37: 11:6413025-6413025
GRCh38: 11:6391795-6391795
50 SMPD1 NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) SNV Pathogenic
2988 rs120074123 GRCh37: 11:6414508-6414508
GRCh38: 11:6393278-6393278

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 rs1342372980
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 rs1451199796
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 rs1402734026
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 rs1554935371
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 rs1554935555
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
13.32 UGT3A1 SMPD1 SGPL1 PSAP PCCA GBA1
2
Show member pathways
11.73 SMPD1 SGPL1 PSAP GBA1
3
Show member pathways
10.28 NPC2 NPC1 LIPA
4 10 PSAP 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 9.65 SMPD1 PSAP NPC2 LIPA GBA1
2 lysosome GO:0005764 9.5 SMPD1 PSAP NPC2 NPC1 MFSD8 LIPA

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol homeostasis GO:0042632 9.91 NPC2 NPC1 CYP7A1
2 intracellular cholesterol transport GO:0032367 9.71 NPC2 NPC1
3 sphingolipid metabolic process GO:0006665 9.67 SGPL1 PSAP GBA1
4 regulation of lysosomal protein catabolic process GO:1905165 9.62 MFSD8 GBA1
5 cholesterol metabolic process GO:0008203 9.61 SMPD1 NPC2 NPC1 GBA1 CYP7A1
6 termination of signal transduction GO:0023021 9.56 SMPD1 GBA1
7 steroid metabolic process GO:0008202 9.46 CYP7A1 GBA1 NPC1 NPC2
8 lipid metabolic process GO:0006629 9.28 SMPD1 SGPL1 PSAP PCCA NPC2 NPC1

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 glycosyl bonds GO:0016798 8.92 SMPD1 GBA1 CHIT1

Sources for Niemann-Pick Disease, Type B

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
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40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
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72 UMLS via Orphanet
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