Type B Niemann-Pick Disease
Type B Niemann-Pick Disease
About the Disease
Niemann-Pick Disease, Type B, also known as niemann-pick disease type b, is related to pick disease of brain and niemann-pick disease, and has symptoms including constipation, vomiting and muscle weakness. An important gene associated with Niemann-Pick Disease, Type B is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Miglustat and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and lung, and related phenotypes are osteopenia and splenomegaly
Common Targets
Serine palmitoyltransferase | SMPD1
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Other Diseases
Persistent Fetal Circulation | Nephroblastoma | Adenosine Deaminase 2 Deficiency | Mitochondrial Disease | Prolidase Deficiency | Epidermolysis Bullosa Simplex, Dowling-Meara Type | Tumoral Calcinosis | Atelosteogenesis Type 1 | Toxic Epidermal Necrolysis | Cri-du-chat Syndrome | Glanzmann Thrombasthenia | Hemolytic Uremic Syndrome | Combined Deficiency Of Factor V And Factor VIII | Schistosomiasis Mansoni | Myasthenia | ICF Syndrome | Leber Hereditary Optic Neuropathy | Hyperekplexia | Plasma Cell Leukemia | Congenital Nephrotic Syndrome | Adenocarcinoma | Familial Glucocorticoid Deficiency | Sorsby Fundus Dystrophy | Senior-Loken Syndrome | Pseudohypoparathyroidism Type 2 | Fundus Albipunctatus | Coloboma | Small Lymphocytic Lymphoma | Autoimmune Autonomic Ganglionopathy | Enhanced S-cone Syndrome | Congenital Hemolytic Anemia | Precocious Puberty | Atelosteogenesis Type 2 | Infantile Liver Failure Syndrome 1 | Chondromyxoid Fibroma | Progressive Encephalopathy-optic Atrophy Syndrome | Spinocerebellar Ataxia Type 40 | Seizures | Phosphoglycerate Dehydrogenase Deficiency | Charcot-Marie-Tooth Disease, Type 1A | Acromegaly | Schuurs-Hoeijmakers Syndrome | Microcephalic Osteodysplastic Primordial Dwarfism, Type II | Charcot-Marie-Tooth Disease Type 4 | Pulmonary Alveolar Proteinosis | Headache | Primary Hyperoxaluria Type 3 | Osteoporosis-pseudoglioma Syndrome | Pitt-Hopkins Syndrome | Myhre Syndrome | Geleophysic Dysplasia | Autoimmune Polyendocrine Syndrome | Tay-Sachs Disease | Spinocerebellar Ataxia Type 15 | Gallstones | Fetal Akinesia Deformation Sequence | Mitochondrial DNA Depletion Syndrome 13 | Glycogen Storage Disease Type 0, Muscle | Cerebrovascular Disorders | Familial Retinal Arterial Macroaneurysm | Macrophage Activation Syndrome | Danon Disease | Episodic Ataxia | Spinocerebellar Ataxia | Myopia | Melanoma, Malignant | Familial Hyperaldosteronism | Carcinoma, Transitional Cell | Occipital Neuralgia | Alagille Syndrome | Desmosterolosis | Language Disorders | Conjunctivitis | Wolcott-Rallison Syndrome | Optic Neuropathy | Hemangioma | Heart Failure | Usher Syndrome Type III | Gynecomastia | Keratoacanthoma | Microcephaly, Seizures, And Developmental Delay | Leukocyte Adhesion Deficiency Type 1 | Multisystemic Smooth Muscle Dysfunction Syndrome | Gastroenteritis, Eosinophilic | Myositis | Galactosemia | Congenital Dyserythropoietic Anemia | Congenital Hereditary Endothelial Dystrophy Type II | Krabbe Disease | Crouzon Syndrome With Acanthosis Nigricans | Myoclonic Epilepsy With Ragged Red Fibers | Purpura | Fukuyama Congenital Muscular Dystrophy | Conduct Disorder | Diastrophic Dysplasia | Behavioral Variant Of Frontotemporal Dementia | Ornithine Transcarbamylase Deficiency | Jalili Syndrome | Fibrillation, Atrial | Corneal Dystrophies, Hereditary | Woodhouse-Sakati Syndrome | Spinocerebellar Ataxia Type 28 | Okihiro Syndrome | Osteosarcoma | Ameloblastoma | Donnai-Barrow Syndrome | Otopalatodigital Syndrome Type 2 | Relapsing Polychondritis | Osteoglophonic Dysplasia | Schnyder Crystalline Corneal Dystrophy | Mucolipidosis Type II | Glaucomatocyclitic Crisis | Chronic Beryllium Disease | Bronchiolitis | Carcinoid Syndrome | Pseudoexfoliation Syndrome | Ectrodactyly | Spermatocele | 3-hydroxy-3-methylglutaric Aciduria | Carcinoid Tumor | Cystitis | Erythropoietic Protoporphyria | Epidermolytic Ichthyosis, Annular | Malignant Peripheral Nerve Sheath Tumor | Erythrokeratodermia Variabilis | Oguchi Disease-2 | Immunoproliferative Disorders | Autosomal Recessive Bestrophinopathy | Vitelliform Macular Dystrophy | Molybdenum Cofactor Deficiency | Infertility, Male | Dysgerminoma | Atrial Septal Defect | Vitreoretinopathy, Proliferative | Spinocerebellar Ataxia Type 42 | Retinoschisis | Spondylo-megaepiphyseal-metaphyseal Dysplasia | Choroiditis | Intellectual Disability, Autosomal Dominant 5 | 3-methylglutaconic Aciduria | Restrictive Dermopathy | Hemophilia | Liver Failure, Acute Infantile | Spinocerebellar Ataxia Type 3 | Ganglioneuroma | Hereditary Sensory And Autonomic Neuropathy | Sarcomatoid Carcinoma Of The Lung | Congenital Central Hypoventilation Syndrome | Fibrosarcoma | Oculocutaneous Albinism Type 4 | Chronic Mucocutaneous Candidiasis | Acrodermatitis | Microphthalmia, Syndromic 7 | Erdheim-Chester Disease | Hereditary Inclusion Body Myopathy | Asphyxia Neonatorum | Congenital Afibrinogenemia | Stromal Corneal Dystrophy | Central Core Disease | Hypophosphatemic Rickets With Hypercalciuria, Hereditary | Sick Sinus Syndrome 1 | Crigler-Najjar Syndrome | HIBCH Deficiency | Personality Disorders | Allergic Contact Dermatitis | Smith-Magenis Syndrome | Anencephaly | Ichthyosis | Vogt-Koyanagi-Harada Syndrome | Granular Corneal Dystrophy | Cannabis Abuse | Hereditary Mixed Polyposis Syndrome | Blood Protein Disorders | Ovarian Sex Cord-stromal Tumor | Common Variable Immunodeficiency | Blepharitis | Uterine Leiomyoma | Familial Mediterranean Fever | Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies | Scleritis | Dementia, Vascular | Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 | Lewy Body Dementia | Neurodermatitis | Hypersomnia | Mycosis Fungoides | Carbamoyl Phosphate Synthetase I Deficiency | Diabetic Nephropathy | AIDS Dementia Complex | Canavan Disease | Myotonic Disorders | Osteopathia Striata With Cranial Sclerosis | Mucolipidosis Type III | Migraine | Familial Hypertrophic Cardiomyopathy | Niemann-Pick Disease, Type B | Spinal Muscular Atrophy | Neuropathy | Usher Syndrome | Hemochromatosis Type 2 | Brachydactyly | Centronuclear Myopathy | Incontinentia Pigmenti | Diabetic Encephalopathy | Sleep Apnea, Obstructive | PHARC Syndrome | Huntington's Disease | Schizoaffective Disorder | Necrobiosis Lipoidica | Cardiac Sarcoidosis | Lymphoma, Mantle Cell | Blue Nevus | Neuroendocrine Cancer | Pycnodysostosis | 3-M Syndrome | Cholera | Pierre Robin Syndrome | Light Chain Amyloidosis | SAPHO Syndrome | Congenital Heart Defects | Acquired Partial Lipodystrophy | Tic Disorder | Arts Syndrome | Acne Vulgaris | Pericarditis | Spondyloepiphyseal Dysplasia Tarda, X-linked | Osteogenesis Imperfecta | Autoimmune Hemolytic Anemia | Acute Leukemia | Paraganglioma, Carotid Body | Focal Dermal Hypoplasia | Amyotrophic Lateral Sclerosis, Juvenile | Saul-Wilson Syndrome | Aplastic Anemia | Bernard-Soulier Syndrome | Peeling Skin Syndrome, Acral Type | Frank-ter Haar Syndrome | Spinocerebellar Ataxia Type 8 | Spondylocarpotarsal Synostosis Syndrome | Keratopathy | Goldenhar Syndrome | Myelodysplasia | Poretti-Boltshauser Syndrome | Diabetic Neuropathy | Encephalopathy, Hepatic | Acromicric Dysplasia | Hydrops Fetalis | Vascular Calcification | Meningococcal Meningitis | Seasonal Mood Disorder | Congenital Torticollis | Rhabdomyosarcoma | Myoclonus | Encephalocele | Cutaneous Lupus Erythematosus | Synpolydactyly | Placenta Previa | Wilson's Disease | Myocardial Infarction | Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss | Otitis Media | Von Hippel-Lindau Disease | Retinal Degeneration | Torticollis | Strabismus | MIRAGE Syndrome | Meckel-Gruber Syndrome | Retinal Diseases | Succinic Semialdehyde Dehydrogenase Deficiency | Hypermetropia | Macular Degeneration | Fontaine Progeroid Syndrome | Benign Familial Infantile Seizures | Chylothorax, Congenital | Coronary Restenosis | Dyggve-Melchior-Clausen Disease | Cataract | Dermatitis Herpetiformis | Seborrheic Dermatitis | Hypercholesterolemia | Spastic Paraplegia Type 7 | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 | Ataxia-ocular Apraxia 2 | Frontotemporal Dementia With Amyotrophic Lateral Sclerosis | Hyperphosphatasia With Intellectual Disability Syndrome 4 | Chiari Malformation Type I | Ophthalmia, Sympathetic | H Syndrome | Familial Digital Arthropathy-brachydactyly | Obesity | Waardenburg Syndrome Type 2A | Combined Malonic And Methylmalonic Acidemia | Proteus Syndrome | Renal Hypomagnesemia 3 | Bietti Crystalline Dystrophy | Tonsillitis | Adenoma, Villous | Gastroenteritis | Presbyopia | Panniculitis | Glucagonoma | Walker-Warburg Syndrome | Erythema Multiforme | Periodic Limb Movement Disorder | Herpes Simplex Dermatitis | ACTH-independent Macronodular Adrenal Hyperplasia | Double Outlet Right Ventricle | Primary Progressive Aphasia | Achondrogenesis | Smith-Lemli-Opitz Syndrome | Meniere's Disease | Nevus | Dystrophy, Cone-rod | Aplasia Cutis Congenita | Progressive Familial Intrahepatic Cholestasis Type 3 | Herpes Genitalis | Macrophagic Myofasciitis | Melanocytic Nevus | B-cell Prolymphocytic Leukemia | Partington Syndrome | Hydrocephalus | Cardiac Arrest | Mitochondrial DNA Depletion Syndrome | Rhinitis | Intestinal Pseudo-obstruction | Hidradenitis | Congenital Nystagmus | Diarrhea | Prediabetes | Familial Hemiplegic Migraine | Hypothyroidism | Acrodysostosis | Tularemia | Chronic Periodontitis | Camptocormia | Primary Hyperoxaluria Type 1 | Prader-Willi Syndrome | Thalassemia | Transient Bullous Dermolysis Of The Newborn | Bronchiectasis | Schizophrenia | LMNA-related Congenital Muscular Dystrophy | Hepatitis E | Angioedema, Hereditary | Lupus Erythematosus | Stroke, Ischemic | Muscular Dystrophy | Preaxial Polydactyly | Chronic Granulomatous Disease | Neurocutaneous Syndromes | Tuberculous Meningitis | Recurrent Respiratory Papillomatosis | IgA Deficiency | Glycogen Storage Disease Type 9 | Cirrhosis | Amyotrophic Lateral Sclerosis-parkinsonism-dementia Complex | Ganglioglioma | Leukoencephalopathy, Progressive Multifocal | Meningioma, Benign | Hemangioblastoma | DRESS Syndrome | Urofacial Syndrome | Epiphyseal Chondrodysplasia, Miura Type | Trichorhinophalangeal Syndrome | Histoplasmosis | Hypertrophy | Lymphoma | Shprintzen-Goldberg Syndrome | Amblyopia | Potocki-Shaffer Syndrome | Sarcoma, Ewing | Trichotillomania | Keratocystic Odontogenic Tumor | Pneumothorax | Hypertension, Portal | Paraganglioma | Congenital Bile Acid Synthesis Defect | Adenosine Deaminase Deficiency | Gnathodiaphyseal Dysplasia | Hereditary Sensory Neuropathy Type 1 | Vertigo | Thrombosis | Focal Segmental Glomerulosclerosis | Bipolar Disorder | Calcium Pyrophosphate Deposition Disease | Polyomavirus Nephropathy | Charcot-Marie-Tooth Disease, Type 6 | Colitis | Sarcoma | Neurogenic Bladder | Alpha-thalassemia Myelodysplasia Syndrome | Thyroiditis | Primary Progressive Nonfluent Aphasia | D-2-Hydroxyglutaric Aciduria | Chronic Thromboembolic Pulmonary Hypertension | Crimean-Congo Hemorrhagic Fever | Kallmann Syndrome | Plasmacytoma | Hypobetalipoproteinemias | Keratitis-ichthyosis-deafness Syndrome
