NPDA
MCID: NMN013
MIFTS: 62

Niemann-Pick Disease, Type a (NPDA)

Categories: Eye diseases, Genetic diseases, Immune diseases, Liver 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 56 29 13 6 43 39 71
Niemann-Pick Disease Type a 12 52 58 15
Sphingomyelinase Deficiency 56 52 73
Sphingomyelin Lipidosis 56 52 73
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral 29 6
Niemann-Pick Disease Intermediate Protracted Neurovisceral 73
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
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:

56
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 56 257200
MeSH 43 D052536
ICD10 32 E75.2
MESH via Orphanet 44 D052536
ICD10 via Orphanet 33 E75.2
UMLS via Orphanet 72 C0268242
Orphanet 58 ORPHA77292
UMLS 71 C0028064 C0268242

Summaries for Niemann-Pick Disease, Type a

OMIM : 56 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). 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)

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 muscle weakness, vomiting and constipation. An important gene associated with Niemann-Pick Disease, Type a is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Neuroscience and Sphingolipid metabolism. The drugs Miglustat and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, 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.

NIH Rare Diseases : 52 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.

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 156)
# Related Disease Score Top Affiliating Genes
1 acid sphingomyelinase deficiency 33.5 SMPD1 NPC1
2 niemann-pick disease, type b 31.4 SMPD1 PITX3 NPC2 NPC1 NPB CHIT1
3 gaucher disease, type i 30.0 SMPD1 PSAP CHIT1 ASAH2
4 lipid pneumonia 29.8 NPC2 NPB
5 niemann-pick disease, type c1 29.7 SMPD1 PSAP NPC2 NPC1 ASAH2
6 niemann-pick disease, type c2 29.7 SMPD1 PSAP NPC2 NPC1
7 farber lipogranulomatosis 29.6 SMPD1 PSAP ASAH2
8 demyelinating disease 29.6 PLP1 MPZ MBP MAG
9 lipid storage disease 29.4 SMPD1 PSAP NPC2 NPC1 CHIT1
10 mucopolysaccharidosis-plus syndrome 29.3 SMPD1 NPC2 NPC1 M6PR CHIT1
11 fabry disease 29.3 PSAP M6PR CHIT1
12 niemann-pick disease 29.2 UGT8 SMPD1 PSAP PLP1 PITX3 NPC2
13 leukodystrophy 29.1 UGT8 PSAP PLP1 MPZ MAG CNP
14 lysosomal storage disease 29.1 SMPD1 PSAP NPC2 NPC1 M6PR CHIT1
15 neuronal ceroid lipofuscinosis 29.0 SMPD1 PSAP PLP1 NPC2 M6PR
16 sphingolipidosis 27.5 SMPD1 PSAP NPC2 NPC1 NPB M6PR
17 metachromatic leukodystrophy 27.3 UGT8 SMPD1 PSAP PLP1 NPC2 NPC1
18 isolated optic neuritis 10.4 MBP CNP
19 thyroid carcinoma 10.3
20 allergic encephalomyelitis 10.3 PLP1 MBP
21 autoimmune peripheral neuropathy 10.3 MPZ MAG
22 gaucher's disease 10.3
23 splenomegaly 10.3
24 hypotonia 10.3
25 central pontine myelinolysis 10.3 MBP MAG
26 spastic paraplegia 75, autosomal recessive 10.2 PLP1 MAG
27 retinoblastoma 10.2
28 familial retinoblastoma 10.2
29 acute myocardial infarction 10.2
30 gangliosidosis 10.2 PSAP CHIT1
31 autoimmune neuropathy 10.2 MPZ MAG
32 wallerian degeneration 10.2 MPZ MAG
33 niemann-pick disease type c, juvenile neurologic onset 10.2 NPC2 NPC1
34 niemann-pick disease type c, adult neurologic onset 10.2 NPC2 NPC1
35 niemann-pick disease type c, severe early infantile neurologic onset 10.2 NPC2 NPC1
36 niemann-pick disease type c, late infantile neurologic onset 10.2 NPC2 NPC1
37 niemann-pick disease type c, severe perinatal form 10.2 NPC2 NPC1
38 mononeuropathy 10.2 MPZ MAG
39 neuritis 10.2 MPZ MBP MAG
40 leukodystrophy, hypomyelinating, 2 10.2 PLP1 MBP
41 interstitial lung disease 10.1
42 lung disease 10.1
43 guillain-barre syndrome 10.1 MPZ MBP MAG
44 laryngomalacia 10.1
45 endocardial fibroelastosis 10.1
46 surfactant metabolism dysfunction, pulmonary, 1 10.1
47 ataxia and polyneuropathy, adult-onset 10.1
48 graft-versus-host disease 10.1
49 hypersplenism 10.1
50 learning disability 10.1

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 global developmental delay 31 HP:0001263
4 splenomegaly 31 HP:0001744
5 hepatomegaly 31 HP:0002240
6 muscular hypotonia 31 HP:0001252
7 recurrent respiratory infections 31 HP:0002205
8 short stature 31 HP:0004322
9 feeding difficulties in infancy 31 HP:0008872
10 muscle weakness 31 HP:0001324
11 failure to thrive 31 HP:0001508
12 vomiting 31 HP:0002013
13 spasticity 31 HP:0001257
14 osteoporosis 31 HP:0000939
15 microcytic anemia 31 HP:0001935
16 constipation 31 HP:0002019
17 hyporeflexia 31 HP:0001265
18 lymphadenopathy 31 HP:0002716
19 prolonged neonatal jaundice 31 HP:0006579
20 rigidity 31 HP:0002063
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 psychomotor retardation 31 HP:0025356
29 foam cells with lamellar inclusion bodies 31 HP:0003609

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Growth Other:
failure to thrive

Skeletal:
osteoporosis

Immunology:
lymphadenopathy

Respiratory Lung:
diffuse reticular or finely nodular infiltrations

Growth Weight:
low body weight

Skin Nails Hair Skin:
xanthomas

Abdomen Liver:
hepatomegaly
neonatal jaundice

Neurologic Central Nervous System:
muscle weakness
hyporeflexia
psychomotor retardation
hypotonia
mental retardation
more
Abdomen Gastrointestinal:
vomiting
feeding difficulties
constipation

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

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


muscle weakness, vomiting, constipation

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 APBB1 CNP M6PR MAG MBP MPZ
2 growth/size/body region MP:0005378 10.25 APBB1 CNP M6PR MBP MPZ NPB
3 cellular MP:0005384 10.2 APBB1 CNP M6PR MBP MPZ NPC1
4 homeostasis/metabolism MP:0005376 10.18 ASAH2 CNP M6PR MAG MBP MPZ
5 hematopoietic system MP:0005397 10.1 CNP MAG MBP MPZ NPC1 NPC2
6 immune system MP:0005387 10.1 CHIT1 CNP MAG MBP MPZ NPC1
7 mortality/aging MP:0010768 10 APBB1 CNP M6PR MBP MPZ NPC1
8 nervous system MP:0003631 9.93 APBB1 CNP MAG MBP MPZ NPC1
9 reproductive system MP:0005389 9.61 CNP M6PR MBP MPZ NPC1 PITX3
10 respiratory system MP:0005388 9.17 CNP MPZ NPC1 NPC2 PITX3 PSAP

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-HIV Agents Phase 4
3 Cardiac Glycosides Phase 4
4 Anti-Infective Agents Phase 4
5 Antiviral Agents Phase 4
6 Hypoglycemic Agents Phase 4
7 Anti-Retroviral Agents Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
9
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
10
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
11
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
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 5755
14
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
15 Methylprednisolone Acetate Phase 2, Phase 3
16 Antilymphocyte Serum Phase 2, Phase 3
17 Pharmaceutical Solutions Phase 2, Phase 3
18
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
19
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
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 Histone Deacetylase Inhibitors Phase 1, Phase 2
27 Respiratory System Agents Phase 1, Phase 2
28 Antidotes Phase 1, Phase 2
29 Antioxidants Phase 1, Phase 2
30 Expectorants Phase 1, Phase 2
31 N-monoacetylcystine Phase 1, Phase 2
32 Protective Agents Phase 1, Phase 2
33 Liver Extracts Phase 1, Phase 2
34
Bilirubin Phase 1, Phase 2 69853-43-6, 635-65-4 21252250 5280352
35 Immunologic Factors Phase 2
36 Immunosuppressive Agents Phase 2
37 Alkylating Agents Phase 2
38 Antirheumatic 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 45)
# 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 Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Recruiting NCT03643562 Phase 3 Adrabetadex
5 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
6 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
7 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
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 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 Enrolling by invitation NCT03879655 Phase 2, Phase 3 VTS-270
10 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
11 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
12 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
13 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
14 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
15 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
16 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
17 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
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 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
19 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
20 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
21 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
22 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 Not yet recruiting NCT03687476 Phase 2 VTS-270
23 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
24 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
25 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
26 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
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 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) Recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
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 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
32 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
33 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
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 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Completed NCT03883750
37 Positron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
38 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544
39 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
40 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
41 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
42 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Active, not recruiting NCT01306604
43 Early Access Program With Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US Available NCT04316637 Arimoclomol
44 Complement Activation in the Lysosomal Storage Disorders Not yet recruiting NCT04189601
45 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, Bone, Bone Marrow, Brain, Spleen, Lung, Eye

Publications for Niemann-Pick Disease, Type a

Articles related to Niemann-Pick Disease, Type a:

(show top 50) (show all 209)
# 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. 54 56 6
15877209 2005
2
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 54 6 56
2023926 1991
3
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. 6 56
19405096 2009
4
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. 54 61 6
1718266 1991
5
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. 56 54
20111001 2010
6
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6 61
19888064 2009
7
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. 54 56
17632693 2007
8
Acid Sphingomyelinase Deficiency 6 61
20301544 2006
9
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. 54 6
9266408 1997
10
Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B. 61 56
8664904 1996
11
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). 56 54
7600574 1995
12
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. 54 6
7762557 1995
13
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. 54 6
1391960 1992
14
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. 56 54
1618760 1992
15
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 54
1885770 1991
16
Niemann-Pick disease: a genetic model in Siamese cats. 56 61
7189903 1980
17
Replacement therapy for inherited enzyme deficiency: liver orthotopic transplantation in Niemann-Pick disease type A. 61 56
345809 1977
18
A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. 61 56
239343 1975
19
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. 56
21502868 2011
20
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
21
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. 56
16434659 2006
22
A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. 56
15208782 2004
23
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. 56
7670466 1995
24
A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate. 6
8051942 1994
25
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. 6
1301192 1992
26
One-year-old infant with hepatosplenomegaly and developmental delay. 56
2447773 1987
27
A mouse model for Niemann-Pick disease. Influence of genetic background on disease expression in spm/spm mice. 56
3559164 1986
28
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. 56
6628453 1983
29
Bone marrow transplantation for Niemann-Pick mice. 56
6422146 1983
30
A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase. 56
216805 1978
31
Ocular manifestations of group A Niemann-Pick disease. 56
623187 1978
32
Niemann-Pick disease: prenatal diagnoses and studies of sphingomyelinase activities. 56
233699 1978
33
The subacute form of Niemann-Pick disease. 56
6053566 1967
34
Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. 56
4962590 1967
35
Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. 56
6015567 1967
36
The sphingolipidoses. 56
5940695 1966
37
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. 56
5220952 1966
38
LIPID HISTOCHEMISTRY AND ELECTRON MICROSCOPY IN ADULT NIEMANN-PICK DISEASE. 56
14246098 1964
39
The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. 56
13696518 1961
40
Three cases of Niemann Pick's disease in children. 56
13824052 1959
41
Niemann-Pick disease: a review of eighteen patients. 56
13516139 1958
42
Adult lipidosis resembling Niemann-Pick's disease. 56
13138710 1954
43
Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A. 61 54
19187445 2009
44
Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. Online. 61 54
10694919 1998
45
[Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)]. 61 54
9645083 1998
46
Pathology of visceral organs and bone marrow in an acid sphingomyelinase deficient knock-out mouse line, mimicking human Niemann-Pick disease type A. A light and electron microscopic study. 61 54
9505258 1997
47
Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C. 61
32178982 2020
48
Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease. 61
32272755 2020
49
Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene. 61
32347185 2020
50
Depletion of Host and Viral Sphingomyelin Impairs Influenza Virus Infection. 61
32425895 2020

Variations for Niemann-Pick Disease, Type a

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

6 (show top 50) (show all 259) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMPD1 NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)SNV Pathogenic 529233 rs1554934193 11:6412804-6412804 11:6391574-6391574
2 SMPD1 NM_000543.5(SMPD1):c.7del (p.Arg3fs)deletion Pathogenic 553962 rs281860663 11:6411832-6411832 11:6390602-6390602
3 SMPD1 NM_000543.5(SMPD1):c.84del (p.Gly29fs)deletion Pathogenic 551367 rs750157176 11:6411908-6411908 11:6390678-6390678
4 SMPD1 NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)SNV Pathogenic 650777 11:6413349-6413349 11:6392119-6392119
5 SMPD1 NM_000543.5(SMPD1):c.1108dup (p.Ala370fs)duplication Pathogenic 640937 11:6414461-6414462 11:6393231-6393232
6 SMPD1 NM_000543.5(SMPD1):c.106dup (p.Val36fs)duplication Pathogenic 813473 11:6411932-6411933 11:6390702-6390703
7 SMPD1 NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)indel Pathogenic 813474 11:6411935-6411944 11:6390705-6390714
8 SMPD1 NM_000543.5(SMPD1):c.766dup (p.Leu256fs)duplication Pathogenic 813477 11:6413057-6413058 11:6391827-6391828
9 SMPD1 NM_000543.5(SMPD1):c.1382_1383del (p.His461fs)deletion Pathogenic 813421 11:6415167-6415168 11:6393937-6393938
10 SMPD1 NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter)SNV Pathogenic 857473 11:6414476-6414476 11:6393246-6393246
11 SMPD1 NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter)SNV Pathogenic 837822 11:6414894-6414894 11:6393664-6393664
12 SMPD1 NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)SNV Pathogenic 2984 rs120074120 11:6413083-6413083 11:6391853-6391853
13 SMPD1 SMPD1, 2-BP DEL, LEU178FSdeletion Pathogenic 2985
14 SMPD1 NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile)SNV Pathogenic 2986 rs120074121 11:6414506-6414506 11:6393276-6393276
15 SMPD1 NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)SNV Pathogenic 2989 rs120074124 11:6413206-6413206 11:6391976-6391976
16 SMPD1 NM_000543.5(SMPD1):c.996del (p.Phe333fs)deletion Pathogenic 2990 rs387906289 11:6413286-6413286 11:6392056-6392056
17 SMPD1 NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)SNV Pathogenic 2991 rs120074125 11:6414531-6414531 11:6393301-6393301
18 SMPD1 NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)SNV Pathogenic 2992 rs120074126 11:6414850-6414850 11:6393620-6393620
19 SMPD1 NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)SNV Pathogenic 2993 rs120074127 11:6414910-6414910 11:6393680-6393680
20 SMPD1 NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)SNV Pathogenic 2994 rs120074128 11:6413175-6413175 11:6391945-6391945
21 SMPD1 NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)SNV Pathogenic 2995 rs267607075 11:6415236-6415236 11:6394006-6394006
22 SMPD1 NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser)SNV Pathogenic 2996 rs267607074 11:6415191-6415191 11:6393961-6393961
23 SMPD1 NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)SNV Pathogenic 813480 11:6414606-6414606 11:6393376-6393376
24 APBB1 , SMPD1 NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)SNV Pathogenic 2980 rs120074117 11:6415434-6415434 11:6394204-6394204
25 SMPD1 NM_000543.5(SMPD1):c.1418_1419CT[1] (p.Leu474fs)short repeat Pathogenic 93314 rs398123476 11:6415203-6415204 11:6393973-6393974
26 SMPD1 NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)SNV Pathogenic 93318 rs398123478 11:6415565-6415565 11:6394335-6394335
27 SMPD1 NM_000543.5(SMPD1):c.842_849dup (p.His284fs)duplication Pathogenic 93321 rs281860677 11:6413134-6413135 11:6391904-6391905
28 SMPD1 NM_000543.5(SMPD1):c.573del (p.Ser192fs)deletion Pathogenic 167710 rs727504167 11:6412868-6412868 11:6391638-6391638
29 APBB1 , SMPD1 NM_000543.5(SMPD1):c.1826_1828GCC[1] (p.Arg610del)short repeat Pathogenic 198093 rs120074118 11:6415767-6415769 11:6394537-6394539
30 SMPD1 NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)SNV Pathogenic 203425 rs797044798 11:6412887-6412887 11:6391657-6391657
31 SMPD1 NM_000543.5(SMPD1):c.521_522insT (p.Ser175fs)insertion Pathogenic 225621 rs875989833 11:6412816-6412817 11:6391586-6391587
32 SMPD1 NM_000543.5(SMPD1):c.565_566insC (p.Lys189fs)insertion Pathogenic 225623 rs875989835 11:6412860-6412861 11:6391630-6391631
33 SMPD1 NM_000543.5(SMPD1):c.795del (p.Leu266fs)deletion Pathogenic 225620 rs875989832 11:6413088-6413088 11:6391858-6391858
34 SMPD1 NM_000543.5(SMPD1):c.952G>A (p.Val318Met)SNV Pathogenic 225625 rs875989837 11:6413247-6413247 11:6392017-6392017
35 SMPD1 NM_000543.5(SMPD1):c.1491_1503del (p.Gly496_Tyr497insTer)deletion Pathogenic 225622 rs875989834 11:6415431-6415443 11:6394201-6394213
36 SMPD1 NM_000543.5(SMPD1):c.1498T>A (p.Tyr500Asn)SNV Pathogenic 225626 rs771336819 11:6415439-6415439 11:6394209-6394209
37 SMPD1 NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro)SNV Pathogenic 225624 rs875989836 11:6415614-6415614 11:6394384-6394384
38 SMPD1 NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)SNV Pathogenic 371341 rs1057517195 11:6412852-6412852 11:6391622-6391622
39 SMPD1 NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)SNV Pathogenic/Likely pathogenic 371576 rs750779804 11:6413043-6413043 11:6391813-6391813
40 SMPD1 NM_000543.5(SMPD1):c.1139_1140TC[3] (p.Leu382fs)short repeat Pathogenic/Likely pathogenic 370363 rs1057516432 11:6414493-6414494 11:6393263-6393264
41 SMPD1 NM_000543.5(SMPD1):c.1264-1G>TSNV Pathogenic/Likely pathogenic 370394 rs1057516454 11:6414846-6414846 11:6393616-6393616
42 SMPD1 NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)deletion Pathogenic/Likely pathogenic 371029 rs1057516949 11:6411977-6411980 11:6390747-6390750
43 SMPD1 NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)SNV Pathogenic/Likely pathogenic 370753 rs868423827 11:6412069-6412069 11:6390839-6390839
44 SMPD1 NM_000543.5(SMPD1):c.1341-1G>ASNV Pathogenic/Likely pathogenic 370902 rs1057516854 11:6415125-6415125 11:6393895-6393895
45 SMPD1 NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)deletion Pathogenic/Likely pathogenic 370328 rs1057516403 11:6415725-6415726 11:6394495-6394496
46 SMPD1 NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)deletion Pathogenic/Likely pathogenic 189096 rs786204694 11:6412832-6412833 11:6391602-6391603
47 SMPD1 NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)SNV Pathogenic/Likely pathogenic 189075 rs753508874 11:6415215-6415215 11:6393985-6393985
48 SMPD1 NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)deletion Pathogenic/Likely pathogenic 195086 rs794727252 11:6413076-6413098 11:6391846-6391868
49 SMPD1 NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)SNV Pathogenic/Likely pathogenic 100731 rs587779408 11:6413034-6413034 11:6391804-6391804
50 SMPD1 NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)SNV Pathogenic/Likely pathogenic 167709 rs727504166 11:6412770-6412770 11:6391540-6391540

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
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
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

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

# Super pathways Score Top Affiliating Genes
1 12.2 MBP MAG CNP APBB1
2
Show member pathways
11.96 UGT8 SMPD1 PSAP ASAH2
3 11.46 SMPD1 PSAP NPC2 NPC1 M6PR
4 11.12 MBP MAG CNP
5
Show member pathways
10.47 NPC2 NPC1
6 9.83 PLP1 MBP MAG CNP

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 10.03 UGT8 SMPD1 PSAP PLP1 NPC1 MPZ
2 synapse GO:0045202 9.8 PLP1 MPZ MBP CNP APBB1
3 lysosomal lumen GO:0043202 9.54 SMPD1 PSAP NPC2
4 lysosome GO:0005764 9.5 SMPD1 PSAP NPC2 NPC1 MPZ M6PR
5 myelin sheath adaxonal region GO:0035749 9.32 MAG CNP
6 compact myelin GO:0043218 9.16 MBP MAG
7 myelin sheath GO:0043209 9.02 PLP1 MPZ MBP MAG CNP

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 UGT8 PSAP NPC2 NPC1 ASAH2
2 chemical synaptic transmission GO:0007268 9.73 PLP1 MPZ MBP CNP
3 lipid transport GO:0006869 9.7 PSAP NPC2 NPC1
4 cholesterol metabolic process GO:0008203 9.67 SMPD1 NPC2 NPC1
5 ceramide biosynthetic process GO:0046513 9.58 SMPD1 ASAH2
6 long-chain fatty acid biosynthetic process GO:0042759 9.57 PLP1 ASAH2
7 low-density lipoprotein particle clearance GO:0034383 9.56 NPC2 NPC1
8 cholesterol transport GO:0030301 9.55 NPC2 NPC1
9 cholesterol efflux GO:0033344 9.54 NPC2 NPC1
10 sphingolipid metabolic process GO:0006665 9.54 UGT8 PSAP ASAH2
11 central nervous system myelination GO:0022010 9.51 PLP1 MAG
12 substantia nigra development GO:0021762 9.5 PLP1 MBP CNP
13 intracellular cholesterol transport GO:0032367 9.48 NPC2 NPC1
14 glycosphingolipid metabolic process GO:0006687 9.43 UGT8 SMPD1 PSAP
15 axon ensheathment GO:0008366 9.4 PLP1 MBP
16 ceramide metabolic process GO:0006672 9.33 SMPD1 PSAP ASAH2
17 lysosomal transport GO:0007041 9.13 PSAP NPC1 M6PR
18 myelination GO:0042552 8.92 PSAP PLP1 MPZ MBP

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of myelin sheath GO:0019911 8.96 PLP1 MBP
2 ganglioside GT1b binding GO:1905576 8.62 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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