Arthrogryposis

About the Disease
Alkuraya-Kucinskas Syndrome, also known as alkkucs, is related to distal arthrogryposis and spastic paraplegia 39, autosomal recessive, and has symptoms including arthralgia, metatarsalgia and muscle cramp. An important gene associated with Alkuraya-Kucinskas Syndrome is BLTP1 (Bridge-Like Lipid Transfer Protein Family Member 1), and among its related pathways/superpathways are Vesicle-mediated transport and Rab regulation of trafficking. The drugs Tolvaptan and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and liver, and related phenotypes are pericardial effusion and seizure

Common Targets
MUSK | PIEZO2 | RIPK4 | LGI4 | SCYL2 | MYO18B | UNC50 | CHRNG | TNNI2 | VPS8 | FBN2 | GLE1 | BICD2 | HOXA11 | USP14 | MID1IP1 | MYL11 | ZC4H2 | ERCC2 | ADCY6 | TNNT3 | PI4KA | ADGRG6 | CUL3 | KLHL3 | MYH14 | MYH3 | ADAMTS15 | LMNA | SCN1A | ERGIC1 | SCN9A | TTN | MAGEL2 | LIFR | KLHL7 | ECEL1 | GLDN | ACTC1 | LMOD3 | MYBPC1 | MYH7B | COL6A3 | BEST3 | POLR3A | TPM2 | MYBPC2 | NALCN | TOR1A | CNTNAP1 | ERCC5 | COL25A1 | NEB

Note: If you'd like to get a target analysis report for Arthrogryposis, 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 Arthrogryposis at a cost 90% lower than traditional approaches, please feel free to contact us at BD@silexon.ai.

Other Diseases

Hamartoma | Borderline Personality Disorder | Epilepsy | Early Infantile Epileptic Encephalopathy 1 | Raynaud Phenomenon | Carcinoid Syndrome | Rubinstein-Taybi Syndrome | Von Hippel-Lindau Disease | Glycogen Storage Disease Type 0, Muscle | Hypercalcemia | Early Infantile Epileptic Encephalopathy | Woodhouse-Sakati Syndrome | Postpartum Depression | Zellweger Syndrome | Diabetes Insipidus, Nephrogenic | Progressive Familial Intrahepatic Cholestasis Type 3 | HIBCH Deficiency | Epidermolytic Hyperkeratosis | Acute Coronary Syndrome | Tracheal Disorders | Glomerulonephritis | Chronic Myelomonocytic Leukemia | Hereditary Sensory Neuropathy Type 1 | Amish Infantile Epilepsy Syndrome | Primary Lateral Sclerosis | Spinocerebellar Ataxia Type 3 | Hypertension, Essential | Skin Papilloma | Intermittent Claudication | Epidermolysis Bullosa Simplex | Familial Digital Arthropathy-brachydactyly | Optic Neuritis | Tic Disorder | Pulmonary Capillary Hemangiomatosis | Colon Adenoma | Nail Disorder, Nonsyndromic Congenital | Ovarian Sex Cord-stromal Tumor | Familial Episodic Pain Syndrome | Frank-ter Haar Syndrome | Rhizomelic Chondrodysplasia Punctata | Charcot-Marie-Tooth Disease, Type 2A | Muscle Wasting | Temporal Lobe Epilepsy | Vitiligo | Spinocerebellar Ataxia Type 16 | Intellectual Disability, Autosomal Dominant 5 | Blepharophimosis Syndrome | Patent Ductus Arteriosus | Waardenburg Syndrome Type 1 | Pseudohermaphroditism | Methylmalonic Aciduria And Homocystinuria, CblC Type | Kashin-Beck Disease | Rheumatic Heart Disease | Adrenoleukodystrophy, X-linked | Macrophagic Myofasciitis | Aspergillosis | Glycogen Storage Disease Type 6 | Hartsfield Syndrome | Aplastic Anemia | Allan-Herndon-Dudley Syndrome | Dyggve-Melchior-Clausen Disease | Focal Segmental Glomerulosclerosis | Supravalvular Aortic Stenosis | HELLP Syndrome | Paracoccidioidomycosis | Cone Dystrophy | Carney-Stratakis Syndrome | Liver Diseases | Osteoporosis, Postmenopausal | Multiple Myeloma | Hepatitis B, Chronic | Blue Nevus | Anosmia, Congenital | Aceruloplasminemia | Microphthalmia | Apert Syndrome | Speech Disorders | Rickets | Babesiosis | Malaria | Colorectal Adenoma | Primary Progressive Aphasia | Corneal Neovascularization | Recurrent Respiratory Papillomatosis | Eczema | Renal Failure | Cousin Syndrome | Cystitis | Diabetic Nephropathy | Multisystemic Smooth Muscle Dysfunction Syndrome | Apparent Mineralocorticoid Excess Syndrome | AIDS Dementia Complex | Gyrate Atrophy Of The Choroid And Retina | Von Willebrand Disease | Cushing Syndrome | Milk Allergy | Epilepsy Of Infancy With Migrating Focal Seizures | Methemoglobinemia | Loeys-Dietz Syndrome Type 4 | Erythrokeratodermia Variabilis | Hyper IgE Syndrome | Diffuse Palmoplantar Keratoderma | Arteriosclerosis | Preaxial Polydactyly | Hereditary Elliptocytosis | Viral Meningitis | Neurofibromatosis Type 1 | Cryptorchidism | Liebenberg Syndrome | Behcet's Disease | Nemaline Myopathy 8 | Generalized Epilepsy And Paroxysmal Dyskinesia | Choroideremia | Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia | Chordoma | Cryopyrin-associated Periodic Syndromes | Subacute Sclerosing Panencephalitis | Nanophthalmos | Bietti Crystalline Dystrophy | Sclerosteosis 2 | Pericarditis | Dyslexia | Acute Tubular Necrosis | Keratoconus | Pneumonia, Bacterial | Kawasaki Disease | Basal Ganglia Disease, Biotin-responsive | Autoimmune Disease | Constipation | Congenital Hypofibrinogenemia | Isovaleric Acidemia | Auriculocondylar Syndrome | Papilloma | Diabetes Mellitus, Transient Neonatal | Cerebral Cavernous Malformations | Sensory Neuropathy | COACH Syndrome | Communication Disorders | Charcot-Marie-Tooth Disease Type 4E | Priapism | Myositis, Focal | Multiple Sclerosis, Secondary Progressive | Anti-glomerular Basement Membrane Disease | Metanephric Adenoma | Photosensitivity | Aarskog-Scott Syndrome | Optic Nerve Diseases | Cataplexy | Botulism | Renal Dysplasia | Greig Cephalopolysyndactyly Syndrome | Follicular Dendritic Cell Sarcoma | Inflammatory Joint Disease | Congenital Fiber-type Disproportion Myopathy | Rotor Syndrome | CHOPS Syndrome | Alopecia Areata | Epidermodysplasia Verruciformis | Bronchiolitis | Paraplegia | Myhre Syndrome | Schamberg Disease | Myelofibrosis | POEMS Syndrome | Infantile Spasm | Subcortical Band Heterotopia | Leber Hereditary Optic Neuropathy | Pulmonary Stenosis | T-cell Prolymphocytic Leukemia | Keratosis, Actinic | Fibronectin Glomerulopathy | Pycnodysostosis | Warsaw Breakage Syndrome | Liver Failure | Uremia | Fatty Aldehyde Dehydrogenase Deficiency | Periventricular Nodular Heterotopia | Diabetes Insipidus, Neurogenic | Spinocerebellar Ataxia Type 42 | Hereditary Hemorrhagic Telangiectasia | Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 | Mixed Connective Tissue Disease | Torticollis | Pulverulent Zonular Cataract | Double Outlet Right Ventricle | Spondylosis | Dental Caries | Crigler-Najjar Syndrome | Pelvic Inflammatory Disease | Frontometaphyseal Dysplasia | Globozoospermia | Corneal Dystrophy | Amyloidosis | Isobutyryl-CoA Dehydrogenase Deficiency | Nijmegen Breakage Syndrome | Purpura, Thrombotic Thrombocytopenic | Ischemia | Primary Hyperoxaluria | Seizures-scoliosis-macrocephaly Syndrome | Behavioral Variant Of Frontotemporal Dementia | Lateral Meningocele Syndrome | Erythematotelangiectatic Rosacea | Neuromyotonia | Anxiety Disorders | Hereditary Neuropathy With Liability To Pressure Palsies | Chondrodysplasia Punctata 2, X-linked Dominant | Charcot-Marie-Tooth Disease | Early Infantile Epileptic Encephalopathy 4 | Guttate Psoriasis | McKusick Type Metaphyseal Chondrodysplasia | Asthma, Nocturnal | Light Chain Amyloidosis | Glomerulonephritis, Membranous | Hyperinsulinism-hyperammonemia Syndrome | Keratitis | Robinow Syndrome | Hypohidrotic Ectodermal Dysplasia | Chronic Enteropathy Associated With SLCO2A1 Gene | Optic Nerve Hypoplasia, Bilateral | Lymphangioleiomyomatosis | Dermatitis | Neurofibromatosis Type 2 | Malnutrition | Hyperuricemia | Trichorhinophalangeal Syndrome | Central Core Disease | Congenital Sodium Diarrhea | Pyruvate Decarboxylase Deficiency | Dysfibrinogenemia | Kernicterus | Unverricht-Lundborg Syndrome | Myelitis, Transverse | Benign Recurrent Intrahepatic Cholestasis 1 | Acrodermatitis Enteropathica | Craniometaphyseal Dysplasia | Diffuse Mesangial Sclerosis | Pemphigus | Cornelia De Lange Syndrome | Leigh Syndrome | Graft-versus-host Disease | Heimler Syndrome | Coffin-Lowry Syndrome | Peritonitis | Congenital Dysfibrinogenemia | Potocki-Shaffer Syndrome | Scapuloperoneal Spinal Muscular Atrophy | Polycystic Kidney, Autosomal Recessive | Microvillus Inclusion Disease | Synpolydactyly | Pulmonary Veno-occlusive Disease | 3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency | Leri-Weill Dyschondrosteosis | Retinal Coloboma | Pheochromocytoma | Plasma Cell Dyscrasia | Distal Myopathy | Pneumococcal Meningitis | Osteogenesis Imperfecta Type VI | Syndactyly | Wilson's Disease | Cirrhosis | Blepharoconjunctivitis | Blau Syndrome | Kearns-Sayre Syndrome | Cranial Nerve Disease | Alcoholism | Fontaine Progeroid Syndrome | Nance-Horan Syndrome | Amyotrophic Lateral Sclerosis, Juvenile | Thrombophlebitis | Angiosarcoma | Oculodentodigital Dysplasia | Cancer, Skin | Keratosis, Seborrheic | Neuromuscular Disorders | Tonsillitis | Congestive Heart Failure | Hypocalcemia | Tay-Sachs Disease | Hereditary Folate Malabsorption | Proteasome-associated Autoinflammatory Syndrome 2 | Wieacker-Wolff Syndrome | Dystrophy, Cone-rod | Veno-occlusive Disease | Malignant Fibrous Histiocytoma | Charcot-Marie-Tooth Disease Type 3 | Epidermolysis Bullosa Simplex, Dowling-Meara Type | Parkinson's Disease | Cancer, Kidney | Panic Disorder | Hoyeraal-Hreidarsson Syndrome | Smith-Kingsmore Syndrome | SAPHO Syndrome | Vertigo | Demyelinating Diseases | Familial Retinal Arterial Macroaneurysm | Orthostatic Intolerance | Acute Leukemia | Cutaneous Mastocytosis | Geleophysic Dysplasia | DICER1 Syndrome | Meningeal Melanocytoma | Retinitis Pigmentosa 3 | Triphalangeal Thumb-polysyndactyly Syndrome | Lichen Planus | Contact Dermatitis | Gerodermia Osteodysplastica | Infantile Nephropathic Cystinosis | Frontotemporal Dementia With Amyotrophic Lateral Sclerosis | Mohr-Tranebjaerg Syndrome | Gangliosidosis, GM1 | Tatton-Brown-Rahman Syndrome | Sarcoma | Stiff-man Syndrome | Varicocele | Meckel-Gruber Syndrome | Pyoderma Gangrenosum | Uremic Pruritus | Bullous Pemphigoid | Leishmaniasis, Cutaneous | Chondroma | Retinal Detachment | Orotic Aciduria | Delirium | Polycystic Liver | Retinopathy, Diabetic | Neovascular Glaucoma | Macular Degeneration | 3-methylcrotonyl-CoA Carboxylase Deficiency | Heterotaxy | Hypothalamic Obesity | Palmoplantar Keratoderma | Vaginitis | Familial Hemiplegic Migraine | Skin Carcinoma | Congenital Lipoid Adrenal Hyperplasia | Charcot-Marie-Tooth Disease, Type 2 | Coenzyme Q10 Deficiency | Syphilis | Spinal Muscular Atrophy | Filariasis | McLeod Syndrome | Anodontia | Dystonia-parkinsonism, X-linked | Majeed Syndrome | Epidermal Nevus Syndrome | Marshall-Smith Syndrome | Urea Cycle Disorder | Chromosome 9q34.3 Deletion Syndrome | Fetal Akinesia Deformation Sequence | Okihiro Syndrome | Epidermolysis Bullosa Dystrophica | Immunoproliferative Disorders | Erdheim-Chester Disease | Epidermolysis Bullosa Simplex, Generalized | Spinocerebellar Ataxia Type 2 | Malonyl-CoA Decarboxylase Deficiency | Cutaneous Angiosarcoma | Cardiomyopathy, Restrictive | Wiskott-Aldrich Syndrome | Systemic Mastocytosis | Acromicric Dysplasia | Van Der Knaap Disease | Encephalopathy, Hepatic | Osteochondrosis | Schnyder Crystalline Corneal Dystrophy | Pemphigus Vulgaris | Multiple Sclerosis | Meesmann Corneal Dystrophy | Spinocerebellar Ataxia | Greenberg Dysplasia | Conjunctivitis | Persistent Truncus Arteriosus | Inflammatory Myopathy | Acute Chest Syndrome | Lung Diseases | Hydrops Fetalis | Nephrotic Syndrome Type 1 | Diabetic Encephalopathy | Spinocerebellar Ataxia Type 8 | Nutrition Disorders | Gardner Syndrome | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 | Ebstein Anomaly | Urticaria | Kaposi Sarcoma | Hepatopulmonary Syndrome | Paraganglioma | Fraser Syndrome | Hereditary Mixed Polyposis Syndrome | Restrictive Dermopathy | Granular Corneal Dystrophy | Gastric Atrophy | Pulmonary Tuberculosis | Cheilitis | Renal Hypomagnesemia 3 | Epicondylitis | Osteogenesis Imperfecta Type IV | Steel Syndrome | Left Ventricular Noncompaction