NPDA
MCID: NMN013
MIFTS: 63

Niemann-Pick Disease, Type a (NPDA)

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

Aliases & Classifications for Niemann-Pick Disease, Type a

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

Name: Niemann-Pick Disease, Type a 57 29 13 6 44 39 70
Niemann-Pick Disease Type a 12 20 58 15
Sphingomyelin Lipidosis 57 20 72 6
Sphingomyelinase Deficiency 57 20 72
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral 29 6
Niemann-Pick Disease Intermediate Protracted Neurovisceral 72
Acid Sphingomyelinase Deficiency, Neurovisceral Type 57
Niemann-Pick Disease Acute Neuronopathic Form 72
Niemann-Pick Disease Acute Neurovisceral Form 72
Niemann-Pick Disease Classical Infantile Form 72
Niemann-Pick Disease Neuronopathic Type 72
Classical Niemann-Pick Disease 72
Niemann-Pick Disease Type I 72
Asmd, Neurovisceral Type 57
Niemann-Pick Disease a 72
Niemann-Pick Diseases 70
Npda 72
Npa 72

Characteristics:

Orphanet epidemiological data:

58
niemann-pick disease type a
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death by age 3 years
more common in ashkenazi jews
allelic disorder to nieman-pick disease type b


HPO:

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


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0070111
OMIM® 57 257200
MeSH 44 D052536
ICD10 32 E75.2
MESH via Orphanet 45 D052536
ICD10 via Orphanet 33 E75.2
UMLS via Orphanet 71 C0268242
Orphanet 58 ORPHA77292
UMLS 70 C0028064 C0268242

Summaries for Niemann-Pick Disease, Type a

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 as a single entity with a clinical spectrum (summary by Schuchman, 2007). Knudson and Kaplan (1962) suggested that 3 types of the disorder can be distinguished: infantile cerebral, juvenile cerebral, and noncerebral. Later, 5 forms of Niemann-Pick disease were distinguished. Four were delineated by Crocker (1961): the classical infantile form (type A), the visceral form (type B), the subacute or juvenile form (type C; 257220), and the Nova Scotian variant (type D; see 257220). The fifth, the adult form (type E; see 607616), was described by Terry et al. (1954) and Lynn and Terry (1964). Schneider et al. (1978) used the designation type F (see 607616) for a form characterized in 2 patients by a thermolabile enzyme. Most patients fall into Crocker's group A, with death before age 3 years. Schuchman (2007) provided a detailed review of Niemann-Pick disease type A, including clinical management. (257200) (Updated 20-May-2021)

MalaCards based summary : Niemann-Pick Disease, Type a, also known as niemann-pick disease type a, is related to acid sphingomyelinase deficiency and niemann-pick disease, type b, and has symptoms including constipation, muscle weakness and vomiting. An important gene associated with Niemann-Pick Disease, Type a is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Metabolism and Neuroscience. The drugs Miglustat and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and eye, and related phenotypes are cherry red spot of the macula and intellectual disability

Disease Ontology : 12 A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has material basis in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.

GARD : 20 Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen ( hepatosplenomegaly ), failure to gain weight and grow at the expected rate ( failure to thrive ), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. There is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. Niemann-Pick disease type A is caused by mutations in the SMPD1 gene. It is inherited in an autosomal recessive pattern.

UniProtKB/Swiss-Prot : 72 Niemann-Pick disease A: An early-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. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, mental retardation, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. 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.

Related Diseases for Niemann-Pick Disease, Type a

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 a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 168)
# Related Disease Score Top Affiliating Genes
1 acid sphingomyelinase deficiency 32.7 SMPD1 NPC1 APBB1
2 niemann-pick disease, type b 31.6 SMPD1 NPC2 NPC1 NPB LIPA FAM223A
3 pick disease of brain 31.5 SMPD1 NPC2 NPC1
4 niemann-pick disease 30.6 UGT8 SMPD2 SMPD1 PSAP PLP1 NPC2
5 niemann-pick disease, type c1 30.6 SMPD1 PSAP NPC2 NPC1 LIPA APBB1
6 fabry disease 29.9 PSAP GBA CHIT1
7 inherited metabolic disorder 29.8 NPC2 NPC1 LIPA IDUA GBA
8 lysosomal storage disease 29.7 SMPD1 PSAP NPC2 NPC1 LIPA IDUA
9 demyelinating disease 29.7 PLP1 MPZ MBP MAG GALC
10 farber lipogranulomatosis 29.6 SMPD2 SMPD1 PSAP NPC1 GALC
11 leukodystrophy 29.6 UGT8 PSAP PLP1 MPZ MAG IDUA
12 mucopolysaccharidosis-plus syndrome 29.3 SMPD1 NPC2 NPC1 LIPA IDUA GBA
13 gaucher's disease 29.3 SMPD1 PSAP NPC2 NPC1 LIPA IDUA
14 lipid storage disease 29.1 SMPD2 SMPD1 PSAP NPC2 NPC1 LIPA
15 metachromatic leukodystrophy 28.9 UGT8 SMPD1 PSAP PLP1 NPC2 NPC1
16 sphingolipidosis 28.9 SMPD2 SMPD1 PSAP NPC2 NPC1 LIPA
17 isolated optic neuritis 10.4 MBP CNP
18 niemann-pick disease type c, juvenile neurologic onset 10.3 NPC2 NPC1
19 niemann-pick disease type c, adult neurologic onset 10.3 NPC2 NPC1
20 niemann-pick disease type c, severe early infantile neurologic onset 10.3 NPC2 NPC1
21 allergic encephalomyelitis 10.3 PLP1 MBP
22 niemann-pick disease type c, late infantile neurologic onset 10.3 NPC2 NPC1
23 niemann-pick disease type c, severe perinatal form 10.3 NPC2 NPC1
24 cerebral lipidosis 10.3 SMPD1 NPC1 CHIT1
25 autoimmune peripheral neuropathy 10.3 MPZ MAG
26 lung disease 10.3
27 central pontine myelinolysis 10.3 MBP MAG
28 spastic paraplegia 75, autosomal recessive 10.3 PLP1 MAG
29 chitotriosidase deficiency 10.3 GBA CHIT1
30 splenomegaly 10.3
31 hypotonia 10.3
32 autoimmune neuropathy 10.2 MPZ MAG
33 postinfectious encephalitis 10.2 MBP GALC
34 infantile krabbe disease 10.2 PSAP GALC
35 interstitial lung disease 10.2
36 ceroid lipofuscinosis, neuronal, 3 10.2 SMPD1 NPC2 NPC1
37 autoimmune disease of central nervous system 10.2 PLP1 MBP MAG
38 wallerian degeneration 10.2 MPZ MAG
39 hereditary neuropathies 10.2 PLP1 MPZ MBP MAG
40 lysosomal disease 10.2 GBA GALC
41 gaucher disease, type ii 10.2 PSAP GBA CHIT1
42 hypertrophic neuropathy of dejerine-sottas 10.2 MPZ MBP MAG CNP
43 galactosialidosis 10.2 PSAP IDUA CHIT1
44 combined saposin deficiency 10.2 PSAP GALC
45 optic neuritis 10.2 PLP1 MPZ MBP MAG
46 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 10.2 PSAP PLP1
47 progressive myoclonus epilepsy 4 10.2 PSAP GBA
48 mononeuropathy 10.1 MPZ MAG
49 charcot-marie-tooth disease and deafness 10.1 PLP1 MPZ MBP MAG
50 mucopolysaccharidosis, type iiia 10.1 NPC1 LIPA IDUA

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



Diseases related to Niemann-Pick Disease, Type a

Symptoms & Phenotypes for Niemann-Pick Disease, Type a

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

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 cherry red spot of the macula 31 frequent (33%) HP:0010729
2 intellectual disability 31 HP:0001249
3 spasticity 31 HP:0001257
4 failure to thrive 31 HP:0001508
5 constipation 31 HP:0002019
6 muscle weakness 31 HP:0001324
7 global developmental delay 31 HP:0001263
8 splenomegaly 31 HP:0001744
9 hepatomegaly 31 HP:0002240
10 recurrent respiratory infections 31 HP:0002205
11 short stature 31 HP:0004322
12 feeding difficulties in infancy 31 HP:0008872
13 vomiting 31 HP:0002013
14 osteoporosis 31 HP:0000939
15 microcytic anemia 31 HP:0001935
16 hyporeflexia 31 HP:0001265
17 prolonged neonatal jaundice 31 HP:0006579
18 rigidity 31 HP:0002063
19 psychomotor retardation 31 HP:0025356
20 lymphadenopathy 31 HP:0002716
21 athetosis 31 HP:0002305
22 protuberant abdomen 31 HP:0001538
23 xanthomatosis 31 HP:0000991
24 generalized hypotonia 31 HP:0001290
25 diffuse reticular or finely nodular infiltrations 31 HP:0002207
26 bone-marrow foam cells 31 HP:0004333
27 sea-blue histiocytosis 31 HP:0001982
28 hypotonia 31 HP:0001252
29 foam cells with lamellar inclusion bodies 31 HP:0003609

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Neurologic Central Nervous System:
muscle weakness
hyporeflexia
psychomotor retardation
hypotonia
mental retardation
more
Abdomen Liver:
hepatomegaly
neonatal jaundice

Skeletal:
osteoporosis

Immunology:
lymphadenopathy

Respiratory Lung:
diffuse reticular or finely nodular infiltrations

Growth Weight:
low body weight

Skin Nails Hair Skin:
xanthomas

Abdomen Gastrointestinal:
constipation
vomiting
feeding difficulties

Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Hematology:
microcytic anemia
large vacuolated foam cells ('np cells') on bone marrow biopsy
'sea blue' histiocytes

Abdomen External Features:
protuberant abdomen

Respiratory:
frequent respiratory infections

Head And Neck Eyes:
cherry-red maculae (50%)
gray, granular-appearing maculae

Laboratory Abnormalities:
decreased acid sphingomyelinase activity (less than 5%)
multiple organs (lung, liver, spleen, kidney, brain) contain foamy resident cells and histiocytes
electron microscopy of foam cells shows lamellar inclusions

Clinical features from OMIM®:

257200 (Updated 20-May-2021)

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


constipation; muscle weakness; vomiting

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

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.42 APBB1 CNP GALC GBA IDUA LIPA
2 growth/size/body region MP:0005378 10.36 APBB1 CNP GALC GBA IDUA LIPA
3 cellular MP:0005384 10.32 APBB1 CNP GALC GBA IDUA LIPA
4 hematopoietic system MP:0005397 10.28 CNP GALC GBA IDUA LIPA MAG
5 homeostasis/metabolism MP:0005376 10.28 CNP GALC GBA IDUA LIPA MAG
6 immune system MP:0005387 10.27 CHIT1 CNP GALC GBA IDUA LIPA
7 mortality/aging MP:0010768 10.13 APBB1 CNP GALC GBA IDUA LIPA
8 nervous system MP:0003631 10.03 APBB1 CNP GALC GBA IDUA LIPA
9 liver/biliary system MP:0005370 9.97 GALC GBA IDUA LIPA NPC1 NPC2
10 reproductive system MP:0005389 9.61 CNP IDUA MBP MPZ NPC1 PLP1
11 respiratory system MP:0005388 9.23 CNP GBA LIPA MPZ NPC1 NPC2

Drugs & Therapeutics for Niemann-Pick Disease, Type a

Drugs for Niemann-Pick Disease, Type a (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 Immunologic Factors Phase 2, Phase 3
18 Antirheumatic Agents Phase 2, Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3
20 Alkylating Agents Phase 2, Phase 3
21 Methylprednisolone Acetate Phase 2, Phase 3
22 Antilymphocyte Serum Phase 2, Phase 3
23 Pharmaceutical Solutions Phase 2, Phase 3
24
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 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
23 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
24 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
25 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
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 a

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

Genetic Tests for Niemann-Pick Disease, Type a

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

# Genetic test Affiliating Genes
1 Niemann-Pick Disease, Type a 29 SMPD1
2 Niemann-Pick Disease, Intermediate, Protracted Neurovisceral 29

Anatomical Context for Niemann-Pick Disease, Type a

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

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

Publications for Niemann-Pick Disease, Type a

Articles related to Niemann-Pick Disease, Type a:

(show top 50) (show all 224)
# Title Authors PMID Year
1
Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B. 6 57 61
8664904 1996
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
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. 57 6
16434659 2006
5
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. 6 57
15877209 2005
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
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 57 6
2023926 1991
8
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population. 6 61
31122880 2019
9
Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses. 6 61
26851525 2016
10
Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A. 6 61
26913189 2015
11
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. 61 6
23356216 2013
12
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. 61 6
22818240 2012
13
Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow. 61 6
22796693 2012
14
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. 6 61
14681755 2003
15
Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. Online. 6 61
10694919 1998
16
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. 61 6
1718266 1991
17
Niemann-Pick disease: a genetic model in Siamese cats. 57 61
7189903 1980
18
Replacement therapy for inherited enzyme deficiency: liver orthotopic transplantation in Niemann-Pick disease type A. 61 57
345809 1977
19
A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. 57 61
239343 1975
20
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management. 6
32375665 2020
21
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease. 6
30788890 2019
22
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up. 6
30795770 2019
23
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder. 6
31139477 2019
24
Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis. 6
29966168 2018
25
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. 6
29995201 2018
26
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type. 6
28801223 2017
27
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 6
28600779 2017
28
Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease. 6
27725636 2016
29
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. 6
27338287 2016
30
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. 6
27238910 2016
31
Crystal structure of mammalian acid sphingomyelinase. 6
27435900 2016
32
Structure of Human Acid Sphingomyelinase Reveals the Role of the Saposin Domain in Activating Substrate Hydrolysis. 6
27349982 2016
33
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. 6
26990548 2016
34
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. 6
26981555 2016
35
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. 6
25920558 2016
36
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 6
26499107 2016
37
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency). 6
25834946 2016
38
The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews. 6
26169695 2015
39
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. 6
26046366 2015
40
Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease. 6
26084044 2015
41
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
42
Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood. 6
24718843 2015
43
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
24643943 2014
44
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 6
24767253 2014
45
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. 6
24446175 2014
46
Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. 6
23252888 2013
47
Morbidity and mortality in type B Niemann-Pick disease. 6
23412609 2013
48
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. 6
23535491 2013
49
Cholesterol trapping in Niemann-Pick disease type B fibroblasts can be relieved by expressing the phosphotyrosine binding domain of GULP. 6
23415435 2013
50
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity. 6
23430512 2013

Variations for Niemann-Pick Disease, Type a

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

6 (show top 50) (show all 492)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMPD1 NM_000543.5(SMPD1):c.952G>A (p.Val318Met) SNV Pathogenic 225625 rs875989837 GRCh37: 11:6413247-6413247
GRCh38: 11:6392017-6392017
2 SMPD1 NM_000543.5(SMPD1):c.1491_1503del (p.Gly496_Tyr497insTer) Deletion Pathogenic 225622 rs875989834 GRCh37: 11:6415431-6415443
GRCh38: 11:6394201-6394213
3 SMPD1 NM_000543.5(SMPD1):c.795del (p.Leu266fs) Deletion Pathogenic 225620 rs875989832 GRCh37: 11:6413088-6413088
GRCh38: 11:6391858-6391858
4 SMPD1 NM_000543.5(SMPD1):c.565_566insC (p.Lys189fs) Insertion Pathogenic 225623 rs875989835 GRCh37: 11:6412860-6412861
GRCh38: 11:6391630-6391631
5 SMPD1 NM_000543.5(SMPD1):c.1498T>A (p.Tyr500Asn) SNV Pathogenic 225626 rs771336819 GRCh37: 11:6415439-6415439
GRCh38: 11:6394209-6394209
6 SMPD1 NM_000543.5(SMPD1):c.521_522insT (p.Ser175fs) Insertion Pathogenic 225621 rs875989833 GRCh37: 11:6412816-6412817
GRCh38: 11:6391586-6391587
7 SMPD1 NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro) SNV Pathogenic 225624 rs875989836 GRCh37: 11:6415614-6415614
GRCh38: 11:6394384-6394384
8 SMPD1 SMPD1, 2-BP DEL, LEU178FS Deletion Pathogenic 2985 GRCh37:
GRCh38:
9 SMPD1 NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile) SNV Pathogenic 2986 rs120074121 GRCh37: 11:6414506-6414506
GRCh38: 11:6393276-6393276
10 SMPD1 NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) SNV Pathogenic 2996 rs267607074 GRCh37: 11:6415191-6415191
GRCh38: 11:6393961-6393961
11 SMPD1 NM_000543.5(SMPD1):c.842_849dup (p.His284fs) Duplication Pathogenic 93321 rs281860677 GRCh37: 11:6413134-6413135
GRCh38: 11:6391904-6391905
12 SMPD1 NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) SNV Pathogenic 529233 rs1554934193 GRCh37: 11:6412804-6412804
GRCh38: 11:6391574-6391574
13 SMPD1 NM_000543.5(SMPD1):c.7del (p.Arg3fs) Deletion Pathogenic 553962 rs281860663 GRCh37: 11:6411832-6411832
GRCh38: 11:6390602-6390602
14 SMPD1 NM_000543.5(SMPD1):c.1108dup (p.Ala370fs) Duplication Pathogenic 640937 rs1590743683 GRCh37: 11:6414461-6414462
GRCh38: 11:6393231-6393232
15 SMPD1 NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) SNV Pathogenic 633427 rs761308217 GRCh37: 11:6413268-6413268
GRCh38: 11:6392038-6392038
16 SMPD1 NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) Deletion Pathogenic 813421 rs748411156 GRCh37: 11:6415167-6415168
GRCh38: 11:6393937-6393938
17 SMPD1 NM_000543.5(SMPD1):c.1418_1419CT[1] (p.Leu474fs) Microsatellite Pathogenic 93314 rs398123476 GRCh37: 11:6415203-6415204
GRCh38: 11:6393973-6393974
18 SMPD1 NM_000543.5(SMPD1):c.106dup (p.Val36fs) Duplication Pathogenic 813473 rs1590735238 GRCh37: 11:6411932-6411933
GRCh38: 11:6390702-6390703
19 SMPD1 NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs) Indel Pathogenic 813474 rs1590735307 GRCh37: 11:6411935-6411944
GRCh38: 11:6390705-6390714
20 SMPD1 NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) SNV Pathogenic 529233 rs1554934193 GRCh37: 11:6412804-6412804
GRCh38: 11:6391574-6391574
21 SMPD1 NM_000543.5(SMPD1):c.766dup (p.Leu256fs) Duplication Pathogenic 813477 rs1018556947 GRCh37: 11:6413057-6413058
GRCh38: 11:6391827-6391828
22 SMPD1 NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) SNV Pathogenic 813480 rs755160837 GRCh37: 11:6414606-6414606
GRCh38: 11:6393376-6393376
23 SMPD1 NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu) SNV Pathogenic 502573 rs760203204 GRCh37: 11:6412846-6412846
GRCh38: 11:6391616-6391616
24 SMPD1 NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter) SNV Pathogenic 837822 GRCh37: 11:6414894-6414894
GRCh38: 11:6393664-6393664
25 SMPD1 NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) SNV Pathogenic 554977 rs559088058 GRCh37: 11:6414487-6414487
GRCh38: 11:6393257-6393257
26 SMPD1 NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter) SNV Pathogenic 857473 GRCh37: 11:6414476-6414476
GRCh38: 11:6393246-6393246
27 SMPD1 NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) SNV Pathogenic 813480 rs755160837 GRCh37: 11:6414606-6414606
GRCh38: 11:6393376-6393376
28 SMPD1 NM_000543.5(SMPD1):c.1583_1584del (p.Ile528fs) Deletion Pathogenic 944778 GRCh37: 11:6415523-6415524
GRCh38: 11:6394293-6394294
29 SMPD1 NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) SNV Pathogenic 188840 rs786204506 GRCh37: 11:6411924-6411924
GRCh38: 11:6390694-6390694
30 SMPD1 NM_000543.5(SMPD1):c.1630del (p.Thr544fs) Deletion Pathogenic 592260 rs770962157 GRCh37: 11:6415569-6415569
GRCh38: 11:6394339-6394339
31 SMPD1 NM_000543.5(SMPD1):c.110_116del (p.Leu37fs) Deletion Pathogenic 959328 GRCh37: 11:6411938-6411944
GRCh38: 11:6390708-6390714
32 SMPD1 NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs) Duplication Pathogenic 965494 GRCh37: 11:6412992-6412993
GRCh38: 11:6391762-6391763
33 SMPD1 NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) Deletion Pathogenic 813421 rs748411156 GRCh37: 11:6415167-6415168
GRCh38: 11:6393937-6393938
34 SMPD1 NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) SNV Pathogenic 556092 rs751269562 GRCh37: 11:6412142-6412142
GRCh38: 11:6390912-6390912
35 SMPD1 NM_000543.5(SMPD1):c.199dup (p.Gln67fs) Duplication Pathogenic 992677 GRCh37: 11:6412023-6412024
GRCh38: 11:6390793-6390794
36 SMPD1 NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs) Indel Pathogenic 992678 GRCh37: 11:6412031-6412033
GRCh38: 11:6390801-6390803
37 SMPD1 NM_000543.5(SMPD1):c.625del (p.Leu209fs) Deletion Pathogenic 992684 GRCh37: 11:6412919-6412919
GRCh38: 11:6391689-6391689
38 SMPD1 NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter) SNV Pathogenic 992685 GRCh37: 11:6412927-6412927
GRCh38: 11:6391697-6391697
39 SMPD1 NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs) Duplication Pathogenic 992675 GRCh37: 11:6411883-6411884
GRCh38: 11:6390653-6390654
40 SMPD1 NM_000543.5(SMPD1):c.499del (p.Cys167fs) Deletion Pathogenic 992681 GRCh37: 11:6412794-6412794
GRCh38: 11:6391564-6391564
41 SMPD1 NM_000543.5(SMPD1):c.572dup (p.Pro191_Ser192insTer) Duplication Pathogenic 992682 GRCh37: 11:6412862-6412863
GRCh38: 11:6391632-6391633
42 SMPD1 NM_000543.5(SMPD1):c.996dup (p.Phe333fs) Duplication Pathogenic 992694 GRCh37: 11:6413285-6413286
GRCh38: 11:6392055-6392056
43 SMPD1 NM_000543.5(SMPD1):c.1054del (p.Glu352fs) Deletion Pathogenic 992696 GRCh37: 11:6413347-6413347
GRCh38: 11:6392117-6392117
44 SMPD1 NM_000543.5(SMPD1):c.1296_1297del (p.His432fs) Deletion Pathogenic 992703 GRCh37: 11:6414879-6414880
GRCh38: 11:6393649-6393650
45 SMPD1 NM_000543.5(SMPD1):c.1091+1G>A SNV Pathogenic 992698 GRCh37: 11:6413387-6413387
GRCh38: 11:6392157-6392157
46 SMPD1 NM_000543.5(SMPD1):c.1101del (p.Phe368fs) Deletion Pathogenic 992699 GRCh37: 11:6414450-6414450
GRCh38: 11:6393220-6393220
47 SMPD1 NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter) SNV Pathogenic 992712 GRCh37: 11:6415547-6415547
GRCh38: 11:6394317-6394317
48 SMPD1 NM_000543.5(SMPD1):c.354del (p.Ile119fs) Deletion Pathogenic 167708 rs727504165 GRCh37: 11:6412648-6412648
GRCh38: 11:6391418-6391418
49 SMPD1 NM_000543.5(SMPD1):c.1380del (p.His461fs) Deletion Pathogenic 969162 GRCh37: 11:6415165-6415165
GRCh38: 11:6393935-6393935
50 SMPD1 NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) SNV Pathogenic 2984 rs120074120 GRCh37: 11:6413083-6413083
GRCh38: 11:6391853-6391853

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

72 (show all 46)
# Symbol AA change Variation ID SNP ID
1 SMPD1 p.Leu304Pro VAR_005060 rs120074124
2 SMPD1 p.Met384Ile VAR_005061 rs120074121
3 SMPD1 p.Asn391Thr VAR_005063
4 SMPD1 p.Arg498Leu VAR_005066 rs120074117
5 SMPD1 p.Gly579Ser VAR_005067 rs120074119
6 SMPD1 p.Tyr448Cys VAR_011388 rs747143343
7 SMPD1 p.Ser250Arg VAR_015287 rs750779804
8 SMPD1 p.His321Tyr VAR_015288
9 SMPD1 p.Phe465Ser VAR_015291 rs131964322
10 SMPD1 p.Pro477Leu VAR_015292 rs753508874
11 SMPD1 p.Tyr539His VAR_015293
12 SMPD1 p.Leu105Pro VAR_060872 rs751269562
13 SMPD1 p.Pro186Leu VAR_060877 rs105751719
14 SMPD1 p.Arg230Cys VAR_060882 rs989639224
15 SMPD1 p.Arg230His VAR_060883 rs141387770
16 SMPD1 p.Ala243Val VAR_060885 rs129195801
17 SMPD1 p.Gly247Ser VAR_060887 rs587779408
18 SMPD1 p.Glu248Lys VAR_060888 rs200763423
19 SMPD1 p.Asp253Glu VAR_060889
20 SMPD1 p.Asp280Ala VAR_060890
21 SMPD1 p.Gln294Lys VAR_060893 rs120074128
22 SMPD1 p.Tyr315His VAR_060895
23 SMPD1 p.Leu343Pro VAR_060898
24 SMPD1 p.Tyr369Cys VAR_060900 rs372287825
25 SMPD1 p.His423Arg VAR_060906 rs767492080
26 SMPD1 p.Leu452Pro VAR_060910
27 SMPD1 p.Tyr469Ser VAR_060913 rs267607074
28 SMPD1 p.Ala484Glu VAR_060916 rs267607075
29 SMPD1 p.Arg498His VAR_060922 rs120074117
30 SMPD1 p.Tyr519Cys VAR_060926 rs371837210
31 SMPD1 p.Trp535Arg VAR_060927 rs155493555
32 SMPD1 p.Arg602His VAR_060932 rs370129081
33 SMPD1 p.Trp211Arg VAR_068435
34 SMPD1 p.Asp253His VAR_068436 rs398123479
35 SMPD1 p.Cys228Arg VAR_075324 rs156492361
36 SMPD1 p.Gly247Asp VAR_075325
37 SMPD1 p.Cys387Arg VAR_075327
38 SMPD1 p.Phe572Leu VAR_075331
39 SMPD1 p.Leu216Arg VAR_077311
40 SMPD1 p.Pro255Ser VAR_077312
41 SMPD1 p.Gly319Arg VAR_077314 rs757934797
42 SMPD1 p.Leu343Arg VAR_077317
43 SMPD1 p.Asn391His VAR_077319
44 SMPD1 p.Trp393Arg VAR_077320
45 SMPD1 p.Gly426Ser VAR_077321 rs155493513
46 SMPD1 p.Asn494Ile VAR_077322

Expression for Niemann-Pick Disease, Type a

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

Pathways for Niemann-Pick Disease, Type a

GO Terms for Niemann-Pick Disease, Type a

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.15 UGT8 SMPD2 SMPD1 SGMS1 PSAP PLP1
2 endoplasmic reticulum GO:0005783 9.95 UGT8 SMPD2 SGMS1 NPC2 NPC1 GBA
3 myelin sheath GO:0043209 9.55 PLP1 MPZ MBP MAG CNP
4 lysosomal lumen GO:0043202 9.5 SMPD1 PSAP NPC2 LIPA IDUA GBA
5 myelin sheath adaxonal region GO:0035749 9.32 MAG CNP
6 lysosome GO:0005764 9.32 SMPD1 PSAP NPC2 NPC1 MPZ LIPA
7 compact myelin GO:0043218 9.26 MBP MAG

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.84 PLP1 MPZ MBP CNP
2 lipid metabolic process GO:0006629 9.81 UGT8 SMPD2 SGMS1 PSAP NPC2 NPC1
3 metabolic process GO:0008152 9.8 SMPD1 IDUA GBA GALC CHIT1
4 lipid transport GO:0006869 9.76 PSAP NPC2 NPC1
5 cholesterol metabolic process GO:0008203 9.76 SMPD1 NPC2 NPC1 GBA
6 steroid metabolic process GO:0008202 9.75 NPC2 NPC1 GBA
7 myelination GO:0042552 9.67 PLP1 MPZ MBP GALC
8 substantia nigra development GO:0021762 9.62 PLP1 MBP MAG CNP
9 low-density lipoprotein particle clearance GO:0034383 9.61 NPC2 NPC1 LIPA
10 cholesterol transport GO:0030301 9.59 NPC2 NPC1
11 lysosomal transport GO:0007041 9.57 PSAP NPC1
12 intracellular cholesterol transport GO:0032367 9.56 NPC2 NPC1
13 ceramide biosynthetic process GO:0046513 9.56 SMPD2 SMPD1 SGMS1 GBA
14 central nervous system myelination GO:0022010 9.55 PLP1 MAG
15 axon ensheathment GO:0008366 9.52 PLP1 MBP
16 sphingomyelin catabolic process GO:0006685 9.51 SMPD2 SMPD1
17 sphingomyelin metabolic process GO:0006684 9.49 SMPD2 SMPD1
18 termination of signal transduction GO:0023021 9.48 SMPD1 GBA
19 sphingolipid metabolic process GO:0006665 9.43 UGT8 SMPD2 SGMS1 PSAP GBA GALC
20 glycosphingolipid metabolic process GO:0006687 9.1 UGT8 SMPD2 SMPD1 PSAP GBA GALC

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.86 SMPD2 SMPD1 LIPA IDUA GBA GALC
2 structural constituent of myelin sheath GO:0019911 9.32 PLP1 MBP
3 sphingomyelin phosphodiesterase activity GO:0004767 9.16 SMPD2 SMPD1
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.02 SMPD1 IDUA GBA GALC CHIT1
5 ganglioside GT1b binding GO:1905576 8.96 PSAP MAG

Sources for Niemann-Pick Disease, Type a

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....