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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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Niemann-Pick Disease, Type a

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

Name: Niemann-Pick Disease, Type a 57 29 13 6 44 39 71
Niemann-Pick Disease Type a 12 20 58 15
Sphingomyelin Lipidosis 57 20 73 6
Sphingomyelinase Deficiency 57 20 73
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral 29 6
Niemann-Pick Disease Intermediate Protracted Neurovisceral 73
Acid Sphingomyelinase Deficiency, Neurovisceral Type 57
Niemann-Pick Disease Acute Neuronopathic Form 73
Niemann-Pick Disease Acute Neurovisceral Form 73
Niemann-Pick Disease Classical Infantile Form 73
Niemann-Pick Disease Neuronopathic Type 73
Classical Niemann-Pick Disease 73
Niemann-Pick Disease Type I 73
Asmd, Neurovisceral Type 57
Niemann-Pick Disease a 73
Niemann-Pick Diseases 71
Npda 73
Npa 73

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 05-Mar-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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Respiratory diseases Liver diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
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 72 C0268242
Orphanet 58 ORPHA77292
UMLS 71 C0028064 C0268242
Sources

Summaries for Niemann-Pick Disease, Type a

About this section
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 05-Mar-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-HIV 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 : 73 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.

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Related Diseases for Niemann-Pick Disease, Type a

About this section

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 169)
# Related Disease Score Top Affiliating Genes
1 acid sphingomyelinase deficiency 32.8 SMPD1 NPC1
2 niemann-pick disease, type b 31.7 SMPD1 NPC2 NPC1 NPB LIPA FAM223A
3 niemann-pick disease, type c1 30.3 SMPD1 PSAP NPC2 NPC1 LIPA APBB1
4 niemann-pick disease 30.2 UGT8 SMPD2 SMPD1 SGMS1 PSAP PLP1
5 fabry disease 30.0 PSAP GBA CHIT1
6 inherited metabolic disorder 29.9 NPC2 NPC1 LIPA IDUA GBA
7 lysosomal storage disease 29.8 SMPD1 PSAP NPC2 NPC1 LIPA IDUA
8 demyelinating disease 29.8 PLP1 MPZ MBP MAG GALC
9 farber lipogranulomatosis 29.7 SMPD2 SMPD1 PSAP NPC1 GALC
10 leukodystrophy 29.7 UGT8 PSAP PLP1 MPZ MAG IDUA
11 mucopolysaccharidosis-plus syndrome 29.4 SMPD1 NPC2 NPC1 LIPA IDUA GBA
12 gaucher's disease 29.4 SMPD1 PSAP NPC2 NPC1 LIPA IDUA
13 lipid storage disease 29.2 SMPD2 SMPD1 PSAP NPC2 NPC1 LIPA
14 metachromatic leukodystrophy 29.0 UGT8 SMPD1 PSAP PLP1 NPC2 NPC1
15 sphingolipidosis 28.8 SMPD2 SMPD1 PSAP NPC2 NPC1 MBP
16 isolated optic neuritis 10.4 MBP CNP
17 niemann-pick disease type c, juvenile neurologic onset 10.4 NPC2 NPC1
18 niemann-pick disease type c, adult neurologic onset 10.4 NPC2 NPC1
19 niemann-pick disease type c, severe early infantile neurologic onset 10.4 NPC2 NPC1
20 niemann-pick disease type c, late infantile neurologic onset 10.4 NPC2 NPC1
21 niemann-pick disease type c, severe perinatal form 10.4 NPC2 NPC1
22 allergic encephalomyelitis 10.3 PLP1 MBP
23 cerebral lipidosis 10.3 SMPD1 NPC1 CHIT1
24 autoimmune peripheral neuropathy 10.3 MPZ MAG
25 chitotriosidase deficiency 10.3 GBA CHIT1
26 central pontine myelinolysis 10.3 MBP MAG
27 spastic paraplegia 75, autosomal recessive 10.3 PLP1 MAG
28 splenomegaly 10.3
29 hypotonia 10.3
30 postinfectious encephalitis 10.3 MBP GALC
31 infantile krabbe disease 10.3 PSAP GALC
32 autoimmune neuropathy 10.3 MPZ MAG
33 mucolipidosis 10.2 SMPD1 PSAP NPC1
34 lung disease 10.2
35 ceroid lipofuscinosis, neuronal, 3 10.2 SMPD1 NPC2 NPC1
36 lysosomal disease 10.2 GBA GALC
37 autoimmune disease of central nervous system 10.2 PLP1 MBP MAG
38 mucolipidosis ii alpha/beta 10.2 SMPD1 PSAP IDUA
39 galactosialidosis 10.2 PSAP IDUA CHIT1
40 hereditary neuropathies 10.2 PLP1 MPZ MBP MAG
41 hypertrophic neuropathy of dejerine-sottas 10.2 MPZ MBP MAG CNP
42 charcot-marie-tooth disease, demyelinating, type 1a 10.2 PLP1 MPZ MBP MAG
43 wallerian degeneration 10.2 MPZ MAG
44 optic neuritis 10.2 PLP1 MPZ MBP MAG
45 combined saposin deficiency 10.2 PSAP GALC
46 interstitial lung disease 10.2
47 canavan disease 10.2 PLP1 MBP GALC
48 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 10.2 PSAP PLP1
49 progressive myoclonus epilepsy 4 10.2 PSAP GBA
50 c syndrome 10.2 SMPD1 NPC2 NPC1 LIPA

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



Diseases related to Niemann-Pick Disease, Type a
Sources

Symptoms & Phenotypes for Niemann-Pick Disease, Type a

About this section

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 05-Mar-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 05-Mar-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
Sources

Drugs & Therapeutics for Niemann-Pick Disease, Type a

About this section

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

Interventional clinical trials:

(show all 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 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 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 a

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

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Genetic Tests for Niemann-Pick Disease, Type a

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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
Sources

Anatomical Context for Niemann-Pick Disease, Type a

About this section

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

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

Publications for Niemann-Pick Disease, Type a

About this section

Articles related to Niemann-Pick Disease, Type a:

(show top 50) (show all 159)
# Title Authors PMID Year
1
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. 57 6
19405096 2009
2
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
3
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 57 6
2023926 1991
4
Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B. 57 61
8664904 1996
5
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. 61 6
1718266 1991
6
Niemann-Pick disease: a genetic model in Siamese cats. 57 61
7189903 1980
7
Replacement therapy for inherited enzyme deficiency: liver orthotopic transplantation in Niemann-Pick disease type A. 57 61
345809 1977
8
A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. 57 61
239343 1975
9
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. 57
21502868 2011
10
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. 57
20111001 2010
11
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. 57
17632693 2007
12
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. 57
16434659 2006
13
A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. 57
15208782 2004
14
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. 6
9266408 1997
15
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. 57
7670466 1995
16
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). 57
7600574 1995
17
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. 6
7762557 1995
18
A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate. 6
8051942 1994
19
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. 6
1391960 1992
20
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
21
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. 6
1301192 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
One-year-old infant with hepatosplenomegaly and developmental delay. 57
2447773 1987
24
A mouse model for Niemann-Pick disease. Influence of genetic background on disease expression in spm/spm mice. 57
3559164 1986
25
Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings. 57
6628453 1983
26
Bone marrow transplantation for Niemann-Pick mice. 57
6422146 1983
27
A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase. 57
216805 1978
28
Ocular manifestations of group A Niemann-Pick disease. 57
623187 1978
29
Niemann-Pick disease: prenatal diagnoses and studies of sphingomyelinase activities. 57
233699 1978
30
The subacute form of Niemann-Pick disease. 57
6053566 1967
31
Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. 57
4962590 1967
32
Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. 57
6015567 1967
33
The sphingolipidoses. 57
5940695 1966
34
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. 57
5220952 1966
35
LIPID HISTOCHEMISTRY AND ELECTRON MICROSCOPY IN ADULT NIEMANN-PICK DISEASE. 57
14246098 1964
36
The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. 57
13696518 1961
37
Three cases of Niemann Pick's disease in children. 57
13824052 1959
38
Niemann-Pick disease: a review of eighteen patients. 57
13516139 1958
39
Adult lipidosis resembling Niemann-Pick's disease. 57
13138710 1954
40
Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report. 61
32714837 2020
41
Cell-Based No-Wash Fluorescence Assays for Compound Screens Using a Fluorescence Cytometry Plate Reader. 61
32532853 2020
42
Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene. 61
32347185 2020
43
Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C. 61
32178982 2020
44
Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease. 61
32272755 2020
45
An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase. 61
31941852 2020
46
Depletion of Host and Viral Sphingomyelin Impairs Influenza Virus Infection. 61
32425895 2020
47
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery. 61
31819150 2019
48
Acid Sphingomyelinase regulates the localization and trafficking of palmitoylated proteins. 61
31142470 2019
49
Adeno-associated viral vector serotype 9-based gene therapy for Niemann-Pick disease type A. 61
31434754 2019
50
An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene. 61
31132580 2019
Sources

Variations for Niemann-Pick Disease, Type a

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

6 (show top 50) (show all 487)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMPD1 SMPD1, 2-BP DEL, LEU178FS Deletion Pathogenic 2985
2 SMPD1 NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter) SNV Pathogenic 837822 11:6414894-6414894 11:6393664-6393664
3 SMPD1 NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter) SNV Pathogenic 857473 11:6414476-6414476 11:6393246-6393246
4 SMPD1 NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) SNV Pathogenic 2996 rs267607074 11:6415191-6415191 11:6393961-6393961
5 SMPD1 NM_000543.5(SMPD1):c.1491_1503del (p.Gly496_Tyr497insTer) Deletion Pathogenic 225622 rs875989834 11:6415431-6415443 11:6394201-6394213
6 SMPD1 NM_000543.5(SMPD1):c.795del (p.Leu266fs) Deletion Pathogenic 225620 rs875989832 11:6413088-6413088 11:6391858-6391858
7 SMPD1 NM_000543.5(SMPD1):c.1498T>A (p.Tyr500Asn) SNV Pathogenic 225626 rs771336819 11:6415439-6415439 11:6394209-6394209
8 SMPD1 NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro) SNV Pathogenic 225624 rs875989836 11:6415614-6415614 11:6394384-6394384
9 SMPD1 NM_000543.5(SMPD1):c.7del (p.Arg3fs) Deletion Pathogenic 553962 rs281860663 11:6411832-6411832 11:6390602-6390602
10 SMPD1 NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) SNV Pathogenic 633427 rs761308217 11:6413268-6413268 11:6392038-6392038
11 SMPD1 NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) SNV Pathogenic 813480 rs755160837 11:6414606-6414606 11:6393376-6393376
12 SMPD1 NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) SNV Pathogenic 813480 rs755160837 11:6414606-6414606 11:6393376-6393376
13 SMPD1 NM_000543.5(SMPD1):c.1583_1584del (p.Ile528fs) Deletion Pathogenic 944778 11:6415523-6415524 11:6394293-6394294
14 SMPD1 NM_000543.5(SMPD1):c.110_116del (p.Leu37fs) Deletion Pathogenic 959328 11:6411938-6411944 11:6390708-6390714
15 SMPD1 NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) SNV Pathogenic 188840 rs786204506 11:6411924-6411924 11:6390694-6390694
16 SMPD1 NM_000543.5(SMPD1):c.565_566insC (p.Lys189fs) Insertion Pathogenic 225623 rs875989835 11:6412860-6412861 11:6391630-6391631
17 SMPD1 NM_000543.5(SMPD1):c.521_522insT (p.Ser175fs) Insertion Pathogenic 225621 rs875989833 11:6412816-6412817 11:6391586-6391587
18 SMPD1 NM_000543.5(SMPD1):c.1108dup (p.Ala370fs) Duplication Pathogenic 640937 rs1590743683 11:6414461-6414462 11:6393231-6393232
19 SMPD1 NM_000543.5(SMPD1):c.106dup (p.Val36fs) Duplication Pathogenic 813473 rs1590735238 11:6411932-6411933 11:6390702-6390703
20 SMPD1 NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs) Indel Pathogenic 813474 rs1590735307 11:6411935-6411944 11:6390705-6390714
21 SMPD1 NM_000543.5(SMPD1):c.1380del (p.His461fs) Deletion Pathogenic 969162 11:6415165-6415165 11:6393935-6393935
22 SMPD1 NM_000543.5(SMPD1):c.766dup (p.Leu256fs) Duplication Pathogenic 813477 rs1018556947 11:6413057-6413058 11:6391827-6391828
23 SMPD1 NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs) Duplication Pathogenic 965494 11:6412992-6412993 11:6391762-6391763
24 SMPD1 NM_000543.5(SMPD1):c.952G>A (p.Val318Met) SNV Pathogenic 225625 rs875989837 11:6413247-6413247 11:6392017-6392017
25 SMPD1 NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) SNV Pathogenic 529233 rs1554934193 11:6412804-6412804 11:6391574-6391574
26 SMPD1 NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) SNV Pathogenic 529233 rs1554934193 11:6412804-6412804 11:6391574-6391574
27 SMPD1 NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) SNV Pathogenic 554977 rs559088058 11:6414487-6414487 11:6393257-6393257
28 SMPD1 NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) Deletion Pathogenic 813421 rs748411156 11:6415167-6415168 11:6393937-6393938
29 SMPD1 NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) Deletion Pathogenic 813421 rs748411156 11:6415167-6415168 11:6393937-6393938
30 SMPD1 NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) SNV Pathogenic 556092 rs751269562 11:6412142-6412142 11:6390912-6390912
31 SMPD1 NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile) SNV Pathogenic 2986 rs120074121 11:6414506-6414506 11:6393276-6393276
32 SMPD1 NM_000543.5(SMPD1):c.1418_1419CT[1] (p.Leu474fs) Microsatellite Pathogenic 93314 rs398123476 11:6415203-6415204 11:6393973-6393974
33 SMPD1 NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu) SNV Pathogenic 502573 rs760203204 11:6412846-6412846 11:6391616-6391616
34 SMPD1 NM_000543.5(SMPD1):c.842_849dup (p.His284fs) Duplication Pathogenic 93321 rs281860677 11:6413134-6413135 11:6391904-6391905
35 SMPD1 NM_000543.5(SMPD1):c.1630del (p.Thr544fs) Deletion Pathogenic 592260 rs770962157 11:6415569-6415569 11:6394339-6394339
36 SMPD1 NM_000543.5(SMPD1):c.354del (p.Ile119fs) Deletion Pathogenic 167708 rs727504165 11:6412648-6412648 11:6391418-6391418
37 SMPD1 NM_000543.5(SMPD1):c.199dup (p.Gln67fs) Duplication Pathogenic 992677 11:6412023-6412024 11:6390793-6390794
38 SMPD1 NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs) Indel Pathogenic 992678 11:6412031-6412033 11:6390801-6390803
39 SMPD1 NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs) Duplication Pathogenic 992675 11:6411883-6411884 11:6390653-6390654
40 SMPD1 NM_000543.5(SMPD1):c.499del (p.Cys167fs) Deletion Pathogenic 992681 11:6412794-6412794 11:6391564-6391564
41 SMPD1 NM_000543.5(SMPD1):c.572dup (p.Pro191_Ser192insTer) Duplication Pathogenic 992682 11:6412862-6412863 11:6391632-6391633
42 SMPD1 NM_000543.5(SMPD1):c.625del (p.Leu209fs) Deletion Pathogenic 992684 11:6412919-6412919 11:6391689-6391689
43 SMPD1 NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter) SNV Pathogenic 992685 11:6412927-6412927 11:6391697-6391697
44 SMPD1 NM_000543.5(SMPD1):c.996dup (p.Phe333fs) Duplication Pathogenic 992694 11:6413285-6413286 11:6392055-6392056
45 SMPD1 NM_000543.5(SMPD1):c.1054del (p.Glu352fs) Deletion Pathogenic 992696 11:6413347-6413347 11:6392117-6392117
46 SMPD1 NM_000543.5(SMPD1):c.1091+1G>A SNV Pathogenic 992698 11:6413387-6413387 11:6392157-6392157
47 SMPD1 NM_000543.5(SMPD1):c.1101del (p.Phe368fs) Deletion Pathogenic 992699 11:6414450-6414450 11:6393220-6393220
48 SMPD1 NM_000543.5(SMPD1):c.1296_1297del (p.His432fs) Deletion Pathogenic 992703 11:6414879-6414880 11:6393649-6393650
49 SMPD1 NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter) SNV Pathogenic 992712 11:6415547-6415547 11:6394317-6394317
50 SMPD1 NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) SNV Pathogenic 2984 rs120074120 11:6413083-6413083 11:6391853-6391853

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

73 (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

Sources

Expression for Niemann-Pick Disease, Type a

About this section
Search GEO for disease gene expression data for Niemann-Pick Disease, Type a.
Sources

Pathways for Niemann-Pick Disease, Type a

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.83 UGT8 SMPD2 SMPD1 SGMS1 PSAP NPC2
2
Neuroscience 4
12.33 MBP MAG CNP APBB1
3
Sphingolipid metabolism 65 36 1
Show member pathways
 12.11 UGT8 SMPD2 SMPD1 SGMS1 PSAP GBA
4
Sphingolipid signaling pathway 36
11.73 SMPD2 SMPD1 SGMS1
5
Statin Pathway 1
Show member pathways
 11.7 NPC2 NPC1 LIPA
6
MECP2 and Associated Rett Syndrome 1
11.34 MBP MAG CNP
7
Lysosome 36
11.33 SMPD1 PSAP NPC2 NPC1 LIPA IDUA
8
LDL Oxidation in Atherogenesis 63
10.64 SMPD2 SMPD1
9
Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) 23
Show member pathways
 10.64 NPC2 NPC1 LIPA
10
sphingomyelin metabolism/ceramide salvage 1
10.28 SMPD2 SMPD1 SGMS1
11
Glial Cell Differentiation 1
10.16 PLP1 MBP MAG CNP
Sources

GO Terms for Niemann-Pick Disease, Type a

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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

Sources for Niemann-Pick Disease, Type a

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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