Disease

PHARC Syndrome

About the Disease
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract, also known as pharc syndrome, is related to usher syndrome, type iiia and usher syndrome, and has symptoms including ataxia, muscle spasticity and action tremor. An important gene associated with Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract is ABHD12 (Abhydrolase Domain Containing 12, Lysophospholipase), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Effects of PIP2 hydrolysis. Affiliated tissues include eye and brain, and related phenotypes are spasticity and ataxia

Common Targets
ABHD12

疾病靶点研报
PHARC Syndrome

Note: If you'd like to get a target analysis report for PHARC Syndrome, or if you are interested to learn how our AI-powered BDE-Chem can design therapeutic molecules to interact with the target(s) above against the disease of PHARC Syndrome at a cost 90% lower than traditional approaches, please feel free to contact us at BD@silexon.ai.

Other Diseases

Chromosome 16p11.2 Deletion Syndrome | Phosphoglycerate Dehydrogenase Deficiency | Myelitis | Split Hand-foot Malformation | Focal Cortical Dysplasia Type 2 | Facioscapulohumeral Muscular Dystrophy Type 1 | Cushing Syndrome | Persistent Mullerian Duct Syndrome | REM Sleep Behavior Disorder | Compartment Syndrome | Tonsillitis | Diffuse Intrinsic Pontine Glioma | Multiple Sclerosis, Relapsing-remitting | Neurofibroma, Plexiform | Rift Valley Fever | Currarino Syndrome | Infantile Liver Failure Syndrome 1 | Retinal Dystrophy | Lichen Planus | Hyperoxaluria | Spina Bifida | Keratitis | Atrial Septal Defect | Keratosis, Actinic | Jawad Syndrome | Neurodegeneration With Brain Iron Accumulation | Cherubism | Retinopathy Of Prematurity | Congenital Disorders Of Glycosylation | Familial Hypobetalipoproteinemia | Atrioventricular Septal Defect | Cystitis, Interstitial | Subcortical Band Heterotopia | Nephrotic Syndrome | Sertoli Cell-only Syndrome | Liver Failure, Acute Infantile | Pulverulent Zonular Cataract | Lung Diseases | Pernicious Anemia | Myasthenia Gravis | Hypertension, Essential | GLUT1 Deficiency Syndrome | Aceruloplasminemia | Esthesioneuroblastoma | Esophageal Adenocarcinoma | Dysgerminoma | Heavy Chain Disease | Okihiro Syndrome | Pneumothorax | Keratoconus | Inflammatory Myopathy | Neurocutaneous Syndromes | Retinal Telangiectasia | Early Infantile Epileptic Encephalopathy 13 | Cancer, Prostate | Silicosis | Tularemia | Fucosidosis | Porphyria | Hereditary Spherocytosis | Congenital Myopathy | Cholelithiasis | Desbuquois Syndrome | Anodontia | Autoimmune Disease | T-cell Prolymphocytic Leukemia | Progressive External Ophthalmoplegia | Ileitis | Analgesia | Myocarditis | Hermansky-Pudlak Syndrome | Reticular Dysgenesis | Arthritis | Aspergillosis | Keratosis | Canavan Disease | Acute Chest Syndrome | Guanidinoacetate Methyltransferase Deficiency | Muscle Wasting | Methemoglobinemia | CHARGE Syndrome | Leri-Weill Dyschondrosteosis | Urethritis | Vitamin K Deficiency | Neuroleptic Malignant Syndrome | Schnitzler Syndrome | Acne Vulgaris | Rolandic Epilepsy | Chordoma | Shwachman-Bodian-Diamond Syndrome | Schizophrenia, Paranoid | Onchocerciasis | Primary Carnitine Deficiency | Paget's Disease Of The Breast | Anthrax | Central Retinal Artery Occlusion | Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form | Asthma | Absence Epilepsy | Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss | Nicolaides-Baraitser Syndrome | Triphalangeal Thumb-polysyndactyly Syndrome | Adenocarcinoma | Mandibuloacral Dysplasia With Type A Lipodystrophy | Nager Acrofacial Dysostosis | Renal Hypouricemia | Gangliosidosis | Blepharoconjunctivitis | Potocki-Shaffer Syndrome | Mesothelioma, Malignant | Pre-eclampsia | Anemia | T-cell Chronic Lymphocytic Leukemia | Exocrine Pancreatic Insufficiency | Familial Glucocorticoid Deficiency | Familial Digital Arthropathy-brachydactyly | Pneumonia, Bacterial | Autoimmune Autonomic Ganglionopathy | Creutzfeldt-Jakob Disease | X-linked Sideroblastic Anemia | Oculodentodigital Dysplasia | Hypercholesterolemia, Familial | Kindler Syndrome | Smith-Magenis Syndrome | Primary Progressive Nonfluent Aphasia | Spinal Muscular Atrophy | Spondyloarthritis | Congenital Bile Acid Synthesis Defect | Angioedema, Hereditary | Temporal Lobe Epilepsy | Acne | Cancer, Bladder | Anorectal Malformations | Epidermolysis Bullosa Simplex | Toxoplasmosis | Periventricular Leukomalacia | Homocystinuria | Hyperthermia, Malignant | Myhre Syndrome | Protein C Deficiency | Learning Disability | Ichthyosis Hystrix, Curth-Macklin Type | Recurrent Respiratory Papillomatosis | Pontocerebellar Hypoplasia | Congenital Hereditary Endothelial Dystrophy Type II | Sorsby Fundus Dystrophy | Urolithiasis | Cellulitis | Nutrition Disorders | Familial Hyperaldosteronism | Melanocytic Nevus | Spitzoid Melanoma | Megacystis-microcolon-intestinal Hypoperistalsis Syndrome | Ischemia | Chiari Malformation Type I | Acrodermatitis Enteropathica | Adams-Oliver Syndrome | Congenital Hereditary Endothelial Dystrophy Type I | Scapuloperoneal Spinal Muscular Atrophy | Uveitis, Anterior | Spinocerebellar Ataxia Type 2 | Aicardi-Goutieres Syndrome | Goiter, Nodular | Parapsoriasis | Muckle-Wells Syndrome | Osmotic Demyelination Syndrome | Delirium | Herpes Simplex Dermatitis | Allan-Herndon-Dudley Syndrome | Pituitary Dwarfism | Chronic Neutrophilic Leukemia | Multiple Sulfatase Deficiency | Galactosemia | Congenital Dyserythropoietic Anemia | Exostoses | Tyrosinemia Type 2 | Obesity | Ameloblastoma | Carcinoma, Transitional Cell | Hepatic Steatosis | Neurofibromatosis-Noonan Syndrome | Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia | Blepharophimosis Syndrome | Esophagitis | Spinocerebellar Ataxia Type 42 | Alzheimer Disease, Late Onset | Lactose Intolerance | Tylosis With Esophageal Cancer | Pupil Disorders | X-linked Creatine Transporter Deficiency | Hypoglycemia | Dysmorphophobia | Mitochondrial DNA Depletion Syndrome 13 | Snyder-Robinson Syndrome | Nestor-Guillermo Progeria Syndrome | Tangier Disease | Hypertension, Portal | Erysipelas | Bartsocas-Papas Syndrome | Fukuyama Congenital Muscular Dystrophy | Tay-Sachs Disease | Glomerulonephritis, Membranoproliferative | Distal Spinal Muscular Atrophy | Nemaline Myopathy | Panuveitis | Hepatitis A | Sleep Disorder | Lipid Metabolism Disorders | Celiac Disease | Arts Syndrome | Adenoma, Pituitary | Chromosome 17q21.31 Deletion Syndrome | Meesmann Corneal Dystrophy | Distal Myopathy | Aldosteronism | Blomstrand Osteochondrodysplasia | Prune Belly Syndrome | Hyper IgE Syndrome | Peeling Skin Syndrome Type B | Walker-Warburg Syndrome | Stromal Corneal Dystrophy | Large Granular Lymphocytic Leukemia | Rash | Cri-du-chat Syndrome | Sezary Syndrome | Lafora Disease | Low Phospholipid Associated Cholelithiasis | Anterior Segment Dysgenesis | Hamartoma | Charcot-Marie-Tooth Disease, Type 6 | 3-methylcrotonyl-CoA Carboxylase Deficiency | Mumps | Spinal Muscular Atrophy Type 2 | Hypotonia-cystinuria Syndrome | Congenital Sodium Diarrhea | Pulmonary Vein Stenosis | Hyperparathyroidism, Secondary | Rosacea | Erythromelalgia | Fragile X Syndrome | Malignant Peripheral Nerve Sheath Tumor | Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress | Vaginitis | Carbohydrate Metabolism Disorders | Deafness, Dystonia, And Cerebral Hypomyelination | Usher Syndrome Type I | Prurigo Nodularis | Choroiditis | Majeed Syndrome | Withdrawal Syndrome | Oligoasthenoteratozoospermia | Hypospadias | Marfan Syndrome | IgA Deficiency | Hereditary Pyropoikilocytosis | Acute Anterior Uveitis | Pemphigoid | Graves Disease | Spondylocostal Dysostosis | Congenital Stationary Night Blindness | Neurofibromatosis Type 1 | Mitochondrial DNA Depletion Syndrome | Stroke, Ischemic | Chorioretinitis | Gerstmann-Straussler-Scheinker Syndrome | Sweet Syndrome | Spinocerebellar Ataxia Type 28 | Spinocerebellar Ataxia Type 15 | Hypertensive Nephropathy | Synovitis | Heimler Syndrome | Bone Giant Cell Tumor | Galloway-Mowat Syndrome | Parkinson Disease 6, Autosomal Recessive Early-onset | Hypersensitivity | Kaposi Sarcoma | Nail Disorder, Nonsyndromic Congenital | Hepatic Veno-occlusive Disease | Chorea-acanthocytosis | Angiodysplasia | Uterine Leiomyoma | Gnathodiaphyseal Dysplasia | Vertebrobasilar Insufficiency | Lichen Sclerosus | Skin Papilloma | Osteoporosis | Vitamin D Deficiency | Esophageal Carcinoma | Fatty Aldehyde Dehydrogenase Deficiency | Tic Disorder | Loeys-Dietz Syndrome | Monilethrix | Polyomavirus Nephropathy | Ovarian Hyperstimulation Syndrome | Epidermolysis Bullosa Simplex, Dowling-Meara Type | AIDS | Cheilitis | Dupuytren Disease | Papilledema | Peeling Skin Syndrome, Acral Type | Waardenburg Syndrome Type 2 | X-linked Charcot-Marie-Tooth Disease | Peyronie's Disease | Teratozoospermia | Pemphigus | Astigmatism | Antenatal Bartter Syndrome Type 1 | Herpes Genitalis | Colitis, Microscopic | Hereditary Hemorrhagic Telangiectasia | Headache | Brachydactyly | Charcot-Marie-Tooth Disease Type 2T | Keratitis-ichthyosis-deafness Syndrome | Interstitial Lung Diseases | Liebenberg Syndrome | Keratosis, Seborrheic | Hypertension | Hepatitis C, Chronic | Schizoaffective Disorder | Congenital Generalized Lipodystrophy | Hyperparathyroidism | Ataxia-hypogonadism-choroidal Dystrophy Syndrome | Opisthorchiasis | 3-hydroxyacyl-CoA Dehydrogenase Deficiency | Mohr-Tranebjaerg Syndrome | Brooke-Spiegler Syndrome | Huntington's Disease | Dermatofibrosarcoma | Addison Disease | Ectopia Lentis, Isolated, Autosomal Recessive | Nemaline Myopathy 10 | Conjunctivitis, Allergic | Xeroderma Pigmentosum | Pleural Tuberculosis | Axenfeld-Rieger Syndrome | Alveolar Capillary Dysplasia | Atopic Dermatitis | Thrombophilia | Achromatopsia | Giant Axonal Neuropathy | Lissencephaly 2 | Sengers Syndrome | Inflammatory Joint Disease | Hypercalcemia | Glutaric Aciduria Type 2 | Nephropathy | Corneal Dystrophies, Hereditary | Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 2 | Alpers Syndrome | Vitelliform Macular Dystrophy | Chondrodysplasia Punctata 1, X-linked Recessive | Retinitis | Eczema | Basan Syndrome | Meningococcal Meningitis | Esotropia | Porokeratosis | Chondrodysplasia Punctata 2, X-linked Dominant | Polycythemia Vera | Dysferlinopathy | Pseudoachondroplasia | Pyruvate Dehydrogenase Deficiency | Thrombocytopenia | Gestational Trophoblastic Disease | Parkinsonism | Infertility, Male | Primary Hyperoxaluria Type 3 | T-cell Lymphoma, Subcutaneous Panniculitis-like | Seasonal Mood Disorder | Otitis Externa | DiGeorge Syndrome | Urticaria | Congenital Heart Defects | Impulse Control Disorder | Sepiapterin Reductase Deficiency | Alkaptonuria | Diffuse Mesangial Sclerosis | Thyroid Dyshormonogenesis | Mitochondrial Encephalomyopathy | Epicondylitis | Unverricht-Lundborg Syndrome | Gangliosidosis, GM1 | Epidermolysis Bullosa Dystrophica | Rhabdomyosarcoma, Embryonal | Multiple System Atrophy | Peutz-Jeghers Syndrome | Cholestasis | Hyperthyroidism | Metachromatic Leukodystrophy | Sialidosis | Lipoma | Long-chain 3-hydroxyacyl-coenzyme A Dehydrogenase Deficiency | Wiedemann-Steiner Syndrome | Kawasaki Disease | Ovarian Sex Cord-stromal Tumor | Mucormycosis | Tuberculous Meningitis | Triple A Syndrome | Pyruvate Decarboxylase Deficiency