Type C Niemann-Pick Disease
Type C Niemann-Pick Disease
About the Disease
Niemann-Pick Disease, Type C1, also known as niemann-pick disease, type c, is related to niemann-pick disease type c, juvenile neurologic onset and niemann-pick disease type c, adult neurologic onset, and has symptoms including cerebellar ataxia, muscle spasticity and seizures. An important gene associated with Niemann-Pick Disease, Type C1 is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways/superpathways are Neuroscience and "Plasma lipoprotein assembly, remodeling, and clearance". The drugs Miglustat and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, bone marrow and liver, and related phenotypes are dysphagia and jaundice
Common Targets
Protein kinase C (nonspecified subtype) | gamma-Secretase | HDAC1 | GABA(A) receptor | DYRK1A | UGCG | HDAC3 | Cholesterol esterase (nonspecified subtype) | S1PR4 | CLK4 | TWNK | Chaperone (nonspecified subtype) | S1PR3 | SLC5A4 | Heat shock protein 70 (nonspecified subtype) | GAA | S1PR5 | CLK1 | APOE | MIR4709 | KRR1 | GBA2 | RIPK1 | S1PR1 | NPC1 | HDAC6 | HDAC2 | NPC2 | SNCA
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Other Diseases
Ectopia Lentis, Isolated, Autosomal Recessive | Amenorrhea | Chronic Myeloid Leukemia | Vitiligo | Neurofibromatosis Type 1 | Seasonal Mood Disorder | Multiple Epiphyseal Dysplasia | Borjeson-Forssman-Lehmann Syndrome | Trichuriasis | Progressive Familial Intrahepatic Cholestasis Type 1 | Gangliosidosis | Hemolytic Uremic Syndrome, Atypical | Cholera | Sclerosteosis 2 | Intestinal Hypomagnesemia 1 | Spinocerebellar Ataxia Type 8 | Hyperammonemia | Adenoma, Pituitary | Joubert Syndrome | GLUT1 Deficiency Syndrome | Gilbert Syndrome | Autosomal Recessive Congenital Ichthyosis | Saethre-Chotzen Syndrome | Klinefelter Syndrome | Cole-Carpenter Syndrome | Progressive Familial Intrahepatic Cholestasis Type 2 | Lymphomatoid Granulomatosis | Rash | Charcot-Marie-Tooth Disease Type 4D | H Syndrome | Albinism | Exfoliative Dermatitis | DRESS Syndrome | Lipid Storage Myopathy | Keratitis-ichthyosis-deafness Syndrome | Leukoplakia, Oral | Birk-Barel Syndrome | Vasculitis | Heroin Dependence | Liver Failure, Acute Infantile | Sponastrime Dysplasia | Paroxysmal Nocturnal Hemoglobinuria | Intermittent Explosive Disorder | Discoid Lupus Erythematosus | Spinal Muscular Atrophy Type 3 | Marinesco-Sjogren Syndrome | Cri-du-chat Syndrome | Granular Corneal Dystrophy Type 1 | Episodic Ataxia | AIDS | Lymphangiomatosis | Sleep Disorder | Tardive Dyskinesia | Adenoma, Pleomorphic | McLeod Syndrome | Persistent Hyperplastic Primary Vitreous | Methemoglobinemia | Gastroenteritis, Eosinophilic | Primary Erythromelalgia | Porencephaly | Heterotaxy | X-linked Myotubular Myopathy | Hereditary Sensory And Autonomic Neuropathy | IMAGe Syndrome | Chondroma | Parkinson Disease 6, Autosomal Recessive Early-onset | Gingivitis | L-2-Hydroxyglutaric Aciduria | Hypolipoproteinemia | Ventricular Septal Defect | Erdheim-Chester Disease | Mucolipidosis Type III | Neurodegeneration Due To Cerebral Folate Transport Deficiency | Blue Nevus | Cancer, Brain | Neurofibroma, Plexiform | Abetalipoproteinemia | Carbohydrate Metabolism Disorders | Chronic Myelomonocytic Leukemia | Nephrotic Syndrome Type 1 | Ganglioglioma | Spinal Muscular Atrophy Type 2 | Eclampsia | Progressive Familial Intrahepatic Cholestasis Type 3 | Hypophosphatemic Rickets With Hypercalciuria, Hereditary | Glomerulonephritis, Membranous | Pre-eclampsia | Leukocyte Adhesion Deficiency | Cholecystitis | Tinea Versicolor | Hereditary Mixed Polyposis Syndrome | Vitamin B12 Deficiency | Bronchiectasis | Bronchitis | Leber Congenital Amaurosis | Myoclonus | Feingold Syndrome | Spondylometaphyseal Dysplasia | 5-oxoprolinase Deficiency | Lennox-Gastaut Syndrome | Spinocerebellar Ataxia Type 17 | Arthrogryposis | Diabetes | Primary Torsion Dystonia | Neutropenia | Charcot-Marie-Tooth Disease, Type 6 | Guillain-Barre Syndrome | Familial Male-limited Precocious Puberty | Charcot-Marie-Tooth Disease Type 2D | Zimmermann-Laband Syndrome | Parvovirus B19 Infection | Campomelic Dysplasia | Angiodysplasia | Glioblastoma Multiforme | Osteoglophonic Dysplasia | Enlarged Vestibular Aqueduct | Myelodysplasia | Encephalitis, Tick-borne | Hypertension, Portal | Chronic Neutrophilic Leukemia | Constipation | Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia | LMNA-related Congenital Muscular Dystrophy | Nephronophthisis | Myoclonus-dystonia Syndrome | Steel Syndrome | Creatine Deficiency Syndrome | Hypopigmentation | Blepharospasm | Jawad Syndrome | Myotonia | Herpes Simplex Dermatitis | Niemann-Pick Disease, Type A | Cancer, Skin | Hypoproteinemia, Hypercatabolic | Porphyria Cutanea Tarda | Multiple Hamartoma Syndrome | Pseudoachondroplasia | Myasthenia Gravis | Gyrate Atrophy Of The Choroid And Retina | Cataract | Cushing Syndrome | Majeed Syndrome | Malaria | Onchocerciasis | Sertoli Cell-only Syndrome | Hemorrhagic Disorders | Reticular Dysgenesis | Spinocerebellar Ataxia Type 21 | Achromatopsia | Ectrodactyly | Adult Polyglucosan Body Disease | Nestor-Guillermo Progeria Syndrome | Enterocolitis, Necrotizing | Keratopathy | Hydrops Fetalis | Trichomegaly | Adrenoleukodystrophy, X-linked | Bainbridge-Ropers Syndrome | Kohlschutter-Tonz Syndrome | Frontometaphyseal Dysplasia | Mountain Sickness | Tuberculous Meningitis | Acrocallosal Syndrome | Mood Disorder | Congenital Dysfibrinogenemia | Charcot-Marie-Tooth Disease Axonal Type 2N | Glomerulonephritis | Poretti-Boltshauser Syndrome | Proteus Syndrome | Gastritis, Atrophic | Megalencephaly | Microcephalic Osteodysplastic Primordial Dwarfism, Type II | Fabry's Disease | Crohn's Disease | Bicuspid Aortic Valve | Liver Failure | Hepatitis D | Intestinal Obstruction | Myhre Syndrome | Christianson Syndrome | Cramp Fasciculation Syndrome | Intermittent Claudication | Purpura | REM Sleep Behavior Disorder | Emery-Dreifuss Muscular Dystrophy | Seizures | Meningitis | Scabies | Glycogen Storage Disease | Cholestasis, Intrahepatic | 3-methylglutaconic Aciduria Type I | Basal Cell Nevus Syndrome | Tracheal Disorders | Peeling Skin Syndrome Type B | Cirrhosis | Reye Syndrome | 3-M Syndrome | Sweet Syndrome | Pterygium | Harlequin Ichthyosis | Amish Infantile Epilepsy Syndrome | Actinomycetoma | Spina Bifida | Tay-Sachs Disease | Primary Hyperoxaluria | Dementia, Vascular | Potocki-Shaffer Syndrome | Hypermetropia | Epidermolysis Bullosa Dystrophica | Papillorenal Syndrome | Erectile Dysfunction | Amebiasis | Spondyloepiphyseal Dysplasia Tarda, X-linked | Reflex Epilepsy | Lymphoma, B-cell | Carotid Artery Disease | Cockayne Syndrome | Dermatofibrosarcoma | Hydronephrosis | Pancreatitis, Chronic | Dengue Shock Syndrome | Retinitis | Mitochondrial Encephalomyopathy | Scleroderma, Diffuse | Vulvovaginitis | Oguchi Disease-2 | Occipital Neuralgia | Tendinopathy | Hypoparathyroidism | Cenani-Lenz Syndactyly Syndrome | Argininosuccinic Aciduria | Encephalopathy, Hepatic | Sclerocornea | Charcot-Marie-Tooth Disease, Type 1A | Goldenhar Syndrome | Geleophysic Dysplasia | Beckwith-Wiedemann Syndrome | Pulmonary Vein Stenosis | Chloridorrhea, Congenital | Dermatitis Herpetiformis | Liebenberg Syndrome | Hemochromatosis | Bacterial Meningitis | Pelizaeus-Merzbacher Disease | C3 Glomerulopathy | Niemann-Pick Disease, Type C | Multicentric Carpotarsal Osteolysis Syndrome | Rotor Syndrome | Episodic Ataxia Type 1 | Peritonitis | Peripheral Neuropathy | Riboflavin Transporter Deficiency Neuronopathy | Diabetes Insipidus | Pachyonychia Congenita | Hypertriglyceridemia | Glioblastoma | Congenital Tufting Enteropathy | Blepharophimosis Syndrome | Hamartoma | Sotos Syndrome | Retinal Detachment | Usher Syndrome Type IIC | Polycystic Liver | Early Infantile Epileptic Encephalopathy 4 | Benign Hereditary Chorea | Hemophagocytic Lymphohistiocytosis | Hypertension, Pulmonary | Renal Medullary Carcinoma | Phenylketonuria II | Mucolipidosis Type II | Toxoplasmosis | Papilledema | Osteopathia Striata With Cranial Sclerosis | Ichthyosis, X-linked | Hyperinsulinemic Hypoglycemia | Ectodermal Dysplasia | Inflammatory Myopathy | Hyperacusis | Chromosome 8q21.11 Deletion Syndrome | Cousin Syndrome | Mastitis | Mevalonate Kinase Deficiency | Hepatoblastoma | Mohr-Tranebjaerg Syndrome | Familial Glucocorticoid Deficiency | Mucolipidosis Type IV | Vitreoretinal Degeneration, Snowflake Type | Meningeal Melanocytoma | Spinocerebellar Ataxia Type 14 | Pearson Syndrome | Giant Axonal Neuropathy | Desmosterolosis | Cocaine-Related Disorders | Anodontia | Hyperparathyroidism, Secondary | Omenn Syndrome | Myoclonic Atonic Epilepsy | Hypertensive Nephropathy | Focal Dermal Hypoplasia | Multifocal Motor Neuropathy | Hemorrhage | Craniosynostosis | 3-methylglutaconic Aciduria | Cutaneous Mastocytosis | Echinococcosis | Trigonocephaly | Vitreoretinopathy, Proliferative | Dengue Hemorrhagic Fever | Nephrosclerosis | Carpal Tunnel Syndrome | Apparent Mineralocorticoid Excess Syndrome | Giant Cell Arteritis | Hepatic Veno-occlusive Disease | Miyoshi Myopathy | Congenital Dyserythropoietic Anemia Type 4 | Raynaud Phenomenon | B-cell Chronic Lymphocytic Leukemia | GATA2 Deficiency | Limb Girdle Muscular Dystrophy | Cardiomyopathy, Dilated, 1L | Hypotrichosis | Metanephric Adenoma | Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | Arrhythmogenic Right Ventricular Cardiomyopathy | Bloom Syndrome | Familial Thoracic Aortic Aneurysm | Sickle Cell Disease | Lipoma | Progressive External Ophthalmoplegia | Communication Disorders | Congenital Bile Acid Synthesis Defect | Williams Syndrome | Moyamoya Disease | Hepatitis B, Chronic | Epidermolysis Bullosa Simplex | Diamond-Blackfan Anemia | Leishmaniasis, Visceral | Gestational Trophoblastic Disease | Ileitis | Stroke, Ischemic | Mosaic Variegated Aneuploidy Syndrome 2 | Choroideremia | Microcephalic Osteodysplastic Primordial Dwarfism, Type I | Diffuse Mesangial Sclerosis | Large Granular Lymphocytic Leukemia | Benign Recurrent Intrahepatic Cholestasis 1 | Amelanotic Melanoma | Spondylolisthesis | Polycystic Ovary Syndrome | Triphalangeal Thumb-polysyndactyly Syndrome | Esophageal Carcinoma | Lymphoma | Idiopathic Multicentric Castleman Disease | Brachial Plexus Neuropathy | Pemphigoid | Intestinal Tuberculosis | Stromal Corneal Dystrophy | Nevus | Veno-occlusive Disease | Cystitis | Multiple Sclerosis, Relapsing-remitting | Otopalatodigital Syndrome Type 2 | Hereditary Hemorrhagic Telangiectasia | Meesmann Corneal Dystrophy | Monilethrix | Immunoproliferative Disorders | Snyder-Robinson Syndrome | Ataxia-hypogonadism-choroidal Dystrophy Syndrome | Central Pain Syndrome | Spinocerebellar Ataxia Type 28 | Sturge-Weber Syndrome | Macular Corneal Dystrophy | Asthma, Exercise-induced | Alopecia Areata | DEND Syndrome | Congenital Stationary Night Blindness | Hennekam Lymphangiectasia-lymphedema Syndrome | Gray Platelet Syndrome | Paraganglioma | Coronary Heart Disease | Pain | Perry Syndrome | Colitis, Microscopic | Peripheral T-cell Lymphoma | Epilepsy | Hemosiderosis | Amyotrophic Lateral Sclerosis, Juvenile | Ulcerative Colitis | Hypocalcemia | Pregnancy, Ectopic | Dermatitis | Loeys-Dietz Syndrome Type 4 | Arteriovenous Malformations | Trichotillomania | Ocular Hypertension | Otitis Externa | Aneurysm, Abdominal Aortic | Malonyl-CoA Decarboxylase Deficiency | Cyclic Vomiting Syndrome
