Type A Niemann-Pick Disease
Type A Niemann-Pick Disease
About the Disease
Acid Sphingomyelinase Deficiency, also known as niemann-pick disease, type a, is related to niemann-pick disease, type a and niemann-pick disease, type b, and has symptoms including constipation, vomiting and muscle weakness. An important gene associated with Acid Sphingomyelinase Deficiency is SMPD1 (Sphingomyelin Phosphodiesterase 1). The drugs Miglustat and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and brain.
Common Targets
Serine palmitoyltransferase | SMPD1
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Palmoplantar Keratoderma | Adenosine Deaminase 2 Deficiency | Hypotonia-cystinuria Syndrome | Dystonia-parkinsonism, X-linked | Empyema | Preaxial Polydactyly | Klinefelter Syndrome | Nephrotic Syndrome | Fowler's Syndrome | Muscle Wasting | Renal Tubular Dysgenesis | Adenoid Cystic Carcinoma | Actinomycetoma | Congenital Myasthenic Syndrome | Temtamy Preaxial Brachydactyly Syndrome | Botulism | Sensorineural Hearing Loss | Triple A Syndrome | Epidermolysis Bullosa Simplex, Generalized | Hemimegalencephaly | Osteogenesis Imperfecta | Pseudohypoparathyroidism Type 1C | Spinocerebellar Ataxia Type 15 | Dysferlinopathy | Juvenile Polyposis | Charcot-Marie-Tooth Disease, Type 2 | Cold Agglutinin Disease | Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy | Hypervalinemia | Multiple Sclerosis, Primary Progressive | Hepatitis B, Chronic | Iron Metabolism Disorders | Insulin Resistance | Iron Overload | Cataract | Hemophilia | Uremia | Aarskog-Scott Syndrome | Anorectal Fistula | Chorea | Dermatofibrosarcoma | Neurofibroma | Intestinal Pseudo-obstruction | Congenital Stationary Night Blindness | Neuromyelitis Optica | Vascular Cognitive Impairment | Fascioliasis | Molybdenum Cofactor Deficiency | Primary Hyperoxaluria Type 3 | Intermittent Claudication | Tendinitis | Myelomeningocele | Ameloblastoma | Motor Neuron Diseases | Dermatomyositis | Adenomatoid Tumor | DiGeorge Syndrome | Retinal Degeneration | Central Pain Syndrome | Spinocerebellar Ataxia Type 2 | Tangier Disease | Hypogammaglobulinemia | Achromatopsia | Atopic Dermatitis | Coronary Artery Disease | Schnitzler Syndrome | Trachoma | Choroideremia | Carcinoma, Signet Ring Cell | Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 2 | Mandibuloacral Dysplasia With Type A Lipodystrophy | Pulmonary Sclerosing Hemangioma | Borderline Personality Disorder | Fuchs Dystrophy | Nevus | Trichothiodystrophy | Congenital Generalized Lipodystrophy | Hypothalamic Obesity | Hyperbilirubinemia | Porencephaly | Niemann-Pick Disease, Type A | Kaposiform Hemangioendothelioma | Stuve-Wiedemann Syndrome | Agoraphobia | Retinal Detachment | Kidney Stones | Chondromyxoid Fibroma | Arts Syndrome | Porokeratosis | Charcot-Marie-Tooth Disease, Type 1A | Aplastic Anemia | Hepatic Adenomatosis | Birt-Hogg-Dube Syndrome | Cannabis Abuse | Corticobasal Syndrome | Vitiligo | Melanoma, Malignant | Aceruloplasminemia | Dupuytren Disease | Keratosis, Actinic | Cirrhosis | Hemochromatosis | Melanocytic Nevus | Von Willebrand Disease | Spinocerebellar Ataxia Type 3 | Asthma, Nocturnal | Glycogen Storage Disease Type 1a | ADNP Syndrome | Epicondylitis | Thrombasthenia | Greig Cephalopolysyndactyly Syndrome | Neovascular Glaucoma | Metachromatic Leukodystrophy | Amyloidosis | Waardenburg Syndrome Type 1 | Megaloblastic Anemia | Neurofibromatosis | Cyst | Blau Syndrome | Fuchs Heterochromic Iridocyclitis | Leukemia | Oligoasthenoteratozoospermia | ACTH-independent Macronodular Adrenal Hyperplasia | Poirier-Bienvenu Neurodevelopmental Syndrome | Tardive Dyskinesia | Alopecia Totalis | Esophagitis, Eosinophilic | Alopecia Areata | Allan-Herndon-Dudley Syndrome | Retinoschisis | Parkinson's Disease | Mood Disorder | Optic Nerve Diseases | Eclampsia | Schuurs-Hoeijmakers Syndrome | Myelitis, Transverse | Erythrokeratodermia Variabilis | Colorectal Adenoma | X-linked Myotubular Myopathy | Combined Malonic And Methylmalonic Acidemia | Endocarditis | Weill-Marchesani Syndrome | Leukoplakia, Oral | Major Depression | Hepatitis A | Carney Triad | Metabolic Diseases | Seizures-scoliosis-macrocephaly Syndrome | Congenital Myopathy | Donnai-Barrow Syndrome | Dystonia | Osteogenesis Imperfecta Type III | Endometriosis | Lung Diseases | L-2-Hydroxyglutaric Aciduria | Congenital Poikiloderma | Nager Acrofacial Dysostosis | Colon Adenoma | Spondylolisthesis | DICER1 Syndrome | Cardiac Arrest | Obesity, Morbid | Meniere's Disease | Stuttering | Meningococcal Infections | Pneumonia, Bacterial | Enhanced S-cone Syndrome | Schwannomatosis | Gastroschisis | Kallmann Syndrome | Benign Familial Neonatal Convulsions | Non-proliferative Diabetic Retinopathy | Ischemia | Whipple's Disease | Glioblastoma Multiforme | Hereditary Sensory And Autonomic Neuropathy | Acromicric Dysplasia | Zellweger Syndrome | Porphyria Cutanea Tarda | Hypercalciuria | Meningitis | Lymphoma | Cerebrovascular Disorders | Spinocerebellar Ataxia Type 12 | Autism | Takayasu's Arteritis | Peutz-Jeghers Syndrome | Patent Foramen Ovale | Sezary Syndrome | Xeroderma Pigmentosum | Camurati-Engelmann Disease | Eczema | Progressive External Ophthalmoplegia | Apparent Mineralocorticoid Excess Syndrome | Larsen Syndrome | Schizophrenia | Diabetes Type 2 | Achondrogenesis | Ichthyosis, X-linked | Mixed Connective Tissue Disease | Hemolytic Uremic Syndrome, Atypical | Thin Basement Membrane Disease | Leishmaniasis, Cutaneous | Primary Progressive Nonfluent Aphasia | Hepatic Veno-occlusive Disease | Sickle Cell Disease | Tendinopathy | Keratocystic Odontogenic Tumor | Pulmonary Alveolar Proteinosis | Amblyopia | Neuroblastoma | Martsolf Syndrome | Progressive Osseous Heteroplasia | Craniopharyngioma | Cervical Dystonia | Retinal Vasculitis | Epiphyseal Chondrodysplasia, Miura Type | Intellectual Disability, Autosomal Dominant 5 | Cerebral Cavernous Malformations | Schwannoma | Ichthyosis Hystrix, Curth-Macklin Type | Rhabdomyosarcoma, Embryonal | Hyperparathyroidism-jaw Tumor Syndrome | Macrophage Activation Syndrome | Non-bullous Congenital Ichthyosiform Erythroderma | Chronic Thromboembolic Pulmonary Hypertension | Microvillus Inclusion Disease | Otosclerosis | Periventricular Leukomalacia | Cryptorchidism | Acute Lymphocytic Leukemia | Metachondromatosis | Hypoalbuminemia | Camptocormia | Vitreoretinopathy, Proliferative | Van Der Knaap Disease | Glycogen Storage Disease Type 1b | Christianson Syndrome | Adenylosuccinate Lyase Deficiency | Carpal Tunnel Syndrome | Myelitis | Niemann-Pick Disease, Type C | Hydrolethalus Syndrome | Systemic Mastocytosis | Corneal Neovascularization | Osteonecrosis Of The Jaw | Greenberg Dysplasia | Hypersensitivity | Peritonitis | Spasticity | Gardner Syndrome | Chromosome 16p11.2 Deletion Syndrome | Pseudohypoparathyroidism Type 1A | Primary Familial Brain Calcification | Coronary Heart Disease | Teratozoospermia | Fontaine Progeroid Syndrome | Eosinophilic Asthma | Glucagonoma | Pelizaeus-Merzbacher Disease | Veno-occlusive Disease | Leri Pleonosteosis | Acute Myeloid Leukemia | Spinocerebellar Ataxia Type 5 | Cardiofaciocutaneous Syndrome | Ileitis | Beckwith-Wiedemann Syndrome | Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 | Amelogenesis Imperfecta | Carbamoyl Phosphate Synthetase I Deficiency | Prostatitis | Acquired Partial Lipodystrophy | Rhabdomyosarcoma, Alveolar | Hypoparathyroidism | Cold-induced Sweating Syndrome | Cancer, Lung | Cardiomyopathy, Peripartum | Cri-du-chat Syndrome | Heterotopic Ossification | Hoyeraal-Hreidarsson Syndrome | Inflammatory Bowel Disease | Saul-Wilson Syndrome | Viral Meningitis | Autonomic Nervous System Disorders | T-cell Lymphoma, Subcutaneous Panniculitis-like | Hennekam Lymphangiectasia-lymphedema Syndrome | Granuloma Annulare | Hepatitis D | Pernicious Anemia | Pouchitis | Familial Glucocorticoid Deficiency | Silver-Russell Syndrome | Oculocutaneous Albinism | Pregnancy, Ectopic | Diarrhea | Stickler Syndrome | Myotonic Disorders | Scleroderma, Diffuse | Facioscapulohumeral Muscular Dystrophy | Waardenburg Syndrome Type 2E | Lateral Meningocele Syndrome | Rothmund-Thomson Syndrome | Scleroderma | Joubert Syndrome | 3-hydroxy-3-methylglutaric Aciduria | Amebiasis | Low Tension Glaucoma | GM2-gangliosidosis AB Variant | Hypermethioninemia | Thalassemia, Beta | Tularemia | Psoriasis | Hyperparathyroidism, Secondary | Systemic Lupus Erythematosus | Congenital Ichthyosiform Erythroderma | Hemosiderosis | Benign Familial Pemphigus | Diamond-Blackfan Anemia | Robinow Syndrome | Trimethylaminuria | Menetrier Disease | Osteochondroma | Adult Polyglucosan Body Disease | Progressive Familial Intrahepatic Cholestasis Type 1 | Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies | Non-Hodgkin Lymphoma | Microcephalic Primordial Dwarfism | Polymicrogyria | Corneal Dystrophy | Primary Erythromelalgia | Sorsby Fundus Dystrophy | Aicardi-Goutieres Syndrome | Hypertelorism | Fibrosarcoma | Gilbert Syndrome | Myeloid Leukemia | Encephalitis, Tick-borne | Epidermolytic Hyperkeratosis | Schizotypal Personality Disorder | Splenomegaly | Isovaleric Acidemia | Spitz Nevus | Infertility | Dysequilibrium Syndrome | Yellow Fever | Aplasia Cutis Congenita | Cluster Headache | Raine Syndrome | Behcet's Disease | Central Core Disease | Primary Hyperoxaluria Type 1 | Subacute Sclerosing Panencephalitis | Syncope | Amenorrhea | Juvenile Xanthogranuloma | Porphyria, Acute Intermittent | McLeod Syndrome | Potocki-Shaffer Syndrome | Arthrogryposis 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