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 / Biomarkers
G4593 | G63895 | G54101 | G163175 | G55681 | G84700 | G25972 | G1146 | G7136 | G23355 | G2201 | G2733 | G23299 | G3207 | G9097 | G58526 | G29895 | G55906 | G2068 | G112 | G7140 | G5297 | G57211 | G8452 | G26249 | G79784 | G4621 | G170689 | G4000 | G6323 | G57222 | G6335 | G7273 | G54551 | G3977 | G55975 | G9427 | G342035 | G70 | G56203 | G4604 | G57644 | G1293 | G144453 | G11128 | G7169 | G4606 | G259232 | G1861 | G8506 | G2073 | G84570 | G4703
Other Diseases
Arthropathy | Arts Syndrome | Aspartylglycosaminuria | Asperger Syndrome | Aspergillosis | Asphyxia Neonatorum | Asplenia | Asthma | Asthma, Exercise-induced | Asthma, Nocturnal | Astigmatism | Astrocytoma | Astrocytoma, Anaplastic | Ataxia-hypogonadism-choroidal Dystrophy Syndrome | Ataxia-ocular Apraxia 2 | Atelosteogenesis Type 1 | Atelosteogenesis Type 2 | Atherosclerosis | Atopic Dermatitis | Atopy | Atrial Septal Defect | Atrioventricular Septal Defect | Auriculocondylar Syndrome | Autism | Autism Spectrum Disorders | Autoimmune Autonomic Ganglionopathy | Autoimmune Disease | Autoimmune Hemolytic Anemia | Autoimmune Interstitial Lung, Joint, And Kidney Disease | Autoimmune Polyendocrine Syndrome | Autonomic Nervous System Disorders | Autonomic Neuropathy | Autosomal Recessive Bestrophinopathy | Autosomal Recessive Congenital Ichthyosis | Autosomal Recessive Spastic Paraplegia Type 35 | Autosomal Recessive Spastic Paraplegia Type 54 | Avellino Corneal Dystrophy | Axenfeld-Rieger Syndrome | Azoospermia | B-cell Chronic Lymphocytic Leukemia | B-cell Prolymphocytic Leukemia | Babesiosis | Bacterial Meningitis | Bainbridge-Ropers Syndrome | Barakat Syndrome | Bardet-Biedl Syndrome | Bare Lymphocyte Syndrome | Barrett Esophagus | Bartsocas-Papas Syndrome | Bartter Syndrome | Basal Cell Nevus Syndrome | Basal Ganglia Cerebrovascular Disease | Basal Ganglia Disease | Basal Ganglia Disease, Biotin-responsive | Basan Syndrome | Batten Disease | Beare-Stevenson Syndrome | Becker Muscular Dystrophy | Beckwith-Wiedemann Syndrome | Behavioral Variant Of Frontotemporal Dementia | Behcet's Disease | Benign Familial Infantile Seizures | Benign Familial Neonatal Convulsions | Benign Familial Pemphigus | Benign Hereditary Chorea | Benign Recurrent Intrahepatic Cholestasis 1 | Bernard-Soulier Syndrome | Best Macular Dystrophy | Beta-Propeller Protein-associated Neurodegeneration | Bethlem Myopathy | Bicuspid Aortic Valve | Bietti Crystalline Dystrophy | Binge Eating Disorder | Biotinidase Deficiency | Bipolar Disorder | Birk-Barel Syndrome | Birt-Hogg-Dube Syndrome | Bladder Exstrophy | Blastoma, Pleuropulmonary | Blastomycosis | Blau Syndrome | Bleeding Disorder Due To CalDAG-GEFI Deficiency | Blepharitis | Blepharo-cheilo-odontic Syndrome | Blepharoconjunctivitis | Blepharospasm | Blomstrand Osteochondrodysplasia | Blood Protein Disorders | Bloom Syndrome | Blue Nevus | Blue Rubber Bleb Nevus Syndrome | Bone Giant Cell Tumor | Bone Marrow Necrosis | Borderline Personality Disorder | Borjeson-Forssman-Lehmann Syndrome | Botulism | Brachial Plexus Neuropathy | Brachydactyly | Branchiootorenal Syndrome | Brenner Tumor | Bronchiectasis | Bronchiolitis | Bronchitis | Bronchitis, Chronic | Brooke-Spiegler Syndrome | Bruck Syndrome | Brugada Syndrome 1 | Budd-Chiari Syndrome | Bullous Pemphigoid | Burn-McKeown Syndrome | Bursitis | C3 Glomerulonephritis | C3 Glomerulopathy | Cabezas Syndrome | Calcium Pyrophosphate Deposition Disease | Campomelic Dysplasia | Camptocormia | Camurati-Engelmann Disease | Canavan Disease | Cancer, Bladder | Cancer, Brain | Cancer, Breast | Cancer, Colon | Cancer, Kidney | Cancer, Lung | Cancer, Prostate | Cancer, Skin | Cantu Syndrome | Carbohydrate Metabolism Disorders | Carbonic Anhydrase VA Deficiency | Carcinoid Syndrome | Carcinoid Tumor | Carcinoma In Situ | Carcinoma, Merkel Cell | Carcinoma, Signet Ring Cell | Carcinoma, Small Cell | Carcinoma, Squamous Cell | Carcinoma, Transitional Cell | Cardiac Arrest | Cardiac Sarcoidosis | Cardiofaciocutaneous Syndrome | Cardiomyopathy, Dilated, 1L | Cardiomyopathy, Hypertrophic | Cardiomyopathy, Restrictive | Cardiospondylocarpofacial Syndrome | Carey-Fineman-Ziter Syndrome | Carney Triad | Carney-Stratakis Syndrome | Carotid Artery Disease | Carpal Tunnel Syndrome | Cartilage Disorders | Castleman Disease | Cat Eye Syndrome | Cataplexy | Cataract | Cavitary Optic Disc Anomalies | CDKL5 Deficiency Disorder | CEDNIK Syndrome | Celiac Disease | Cellulitis | Cenani-Lenz Syndactyly Syndrome | Central Core Disease | Central Pain Syndrome | Central Retinal Artery Occlusion | Centronuclear Myopathy | Cerebellar Ataxia, Cayman Type | Cerebellofaciodental Syndrome | Cerebral Amyloid Angiopathy | Cerebral Cavernous Malformations | Cerebrotendinous Xanthomatosis | Cerebrovascular Disorders | Cervical Dystonia | Cervicitis | Chanarin-Dorfman Syndrome | Charcot-Marie-Tooth Disease | Charcot-Marie-Tooth Disease Axonal Type 2N | Charcot-Marie-Tooth Disease Type 2D | Charcot-Marie-Tooth Disease Type 2E | Charcot-Marie-Tooth Disease Type 2T | Charcot-Marie-Tooth Disease Type 3 | Charcot-Marie-Tooth Disease Type 4 | Charcot-Marie-Tooth Disease Type 4B1 | Charcot-Marie-Tooth Disease Type 4D | Charcot-Marie-Tooth Disease Type 4E | Charcot-Marie-Tooth Disease, Type 1A | Charcot-Marie-Tooth Disease, Type 2 | Charcot-Marie-Tooth Disease, Type 2A | Charcot-Marie-Tooth Disease, Type 2C | CHARGE Syndrome | Cheilitis | Chitayat Syndrome | Chloridorrhea, Congenital | Cholangiocarcinoma | Cholangitis | Cholecystitis | Cholelithiasis | Cholera | Cholestasis | Cholestasis, Intrahepatic | Cholesteryl Ester Storage Disease | Chondrodysplasia Punctata | Chondrodysplasia Punctata 1, X-linked Recessive | Chondrodysplasia Punctata 2, X-linked Dominant | Chondroma | Chondromyxoid Fibroma | Chondrosarcoma | CHOPS Syndrome | Chordoid Glioma | Chordoma | Chorea | Chorea-acanthocytosis | Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress | Choriocarcinoma | Chorioretinitis | Choroideremia | Choroiditis | Christianson Syndrome | Chromosome 16p11.2 Deletion Syndrome | Chromosome 17q21.31 Deletion Syndrome | Chromosome 5q Deletion Syndrome | Chromosome 8q21.11 Deletion Syndrome | Chromosome 9q34.3 Deletion Syndrome | Chronic Beryllium Disease | Chronic Enteropathy Associated With SLCO2A1 Gene | Chronic Granulomatous Disease | Chronic Granulomatous Disease, X-linked | Chronic Idiopathic Myelofibrosis | Chronic Inflammatory Demyelinating Polyneuropathy | Chronic Kidney Disease | Chronic Leukemia | Chronic Lymphocytic Leukemia | Chronic Mucocutaneous Candidiasis | Chronic Myeloid Leukemia | Chronic Myelomonocytic Leukemia | Chronic Neutrophilic Leukemia | Chronic Periodontitis | Chronic Thromboembolic Pulmonary Hypertension | Chudley-McCullough Syndrome | Chylomicron Retention Disease | Chylothorax, Congenital | Cirrhosis | Citrullinemia | Cleidocranial Dysplasia | Clouston Hidrotic Ectodermal Dysplasia | Cluster Headache | COACH Syndrome | Cockayne Syndrome | Coenzyme Q10 Deficiency | Coffin-Lowry Syndrome | Coffin-Siris Syndrome | Cohen Syndrome | Cold Agglutinin Disease | Cold-induced Sweating Syndrome | Cole-Carpenter Syndrome | Colitis | Colitis, Collagenous | Colitis, Lymphocytic | Colitis, Microscopic | Coloboma | Colon Adenoma | Colorectal Adenoma | Coma | Combined Deficiency Of Factor V And Factor VIII | Combined Malonic And Methylmalonic Acidemia | Combined Pituitary Hormone Deficiency | Common Cold | Common Variable Immunodeficiency | Communication Disorders | Compartment Syndrome | Conduct Disorder | Cone Dystrophy | Congenital Absence Of Vas Deferens | Congenital Adrenal Hyperplasia | Congenital Adrenal Hyperplasia 1 | Congenital Afibrinogenemia | Congenital Aniridia | Congenital Bilateral Absence Of Vas Deferens | Congenital Bile Acid Synthesis Defect | Congenital Central Hypoventilation Syndrome | Congenital Diaphragmatic Hernia | Congenital Disorders Of Glycosylation | Congenital Disorders Of Glycosylation Type II | Congenital Dyserythropoietic Anemia | Congenital Dyserythropoietic Anemia Type 1 | Congenital Dyserythropoietic Anemia Type 4 | Congenital Dysfibrinogenemia | Congenital Fiber-type Disproportion Myopathy | Congenital Generalized Lipodystrophy | Congenital Heart Block | Congenital Heart Defects | Congenital Hemolytic Anemia | Congenital Hereditary Endothelial Dystrophy Type II | Congenital Hypofibrinogenemia | Congenital Ichthyosiform Erythroderma | Congenital Lipoid Adrenal Hyperplasia | Congenital Mirror Movements | Congenital Muscular Dystrophy | Congenital Myasthenic Syndrome | Congenital Myopathy | Congenital Nephrotic Syndrome | Congenital Nystagmus | Congenital Poikiloderma | Congenital Primary Aphakia | Congenital Sodium Diarrhea | Congenital Stationary Night Blindness | Congenital Stromal Corneal Dystrophy | Congenital Torticollis | Congenital Tufting Enteropathy | Congestive Heart Failure | Conjunctivitis | Conjunctivitis, Allergic | Connective Tissue Disorders | Constipation | Contact Dermatitis | Corneal Dystrophies, Hereditary | Corneal Dystrophy | Corneal Dystrophy And Perceptive Deafness | Corneal Edema | Corneal Neovascularization | Corneal Ulcer | Cornelia De Lange Syndrome | Coronary Artery Disease | Coronary Heart Disease | Coronary Restenosis | Corticobasal Syndrome | Costello Syndrome | Cousin Syndrome | Cramp Fasciculation Syndrome | Cranial Nerve Disease | Cranioectodermal Dysplasia | Craniofacial Dysostosis | Craniofrontonasal Syndrome | Craniolenticulosutural Dysplasia | Craniometaphyseal Dysplasia | Craniopharyngioma | Craniosynostosis | Creatine Deficiency Syndrome | Creatine Deficiency Syndrome Due To AGAT Deficiency | CREST Syndrome | Cri-du-chat Syndrome | Crigler-Najjar Syndrome | Crimean-Congo Hemorrhagic Fever | Cryopyrin-associated Periodic Syndromes | Cryptococcal Meningitis | Cryptorchidism | Cryptosporidiosis | Currarino Syndrome | Cushing Syndrome | Cutaneous Angiosarcoma | Cutaneous Lupus Erythematosus | Cutaneous Mastocytosis | Cutaneous T-cell Lymphoma | Cutis Laxa | Cyclic Vomiting Syndrome | Cyst | Cysticercosis | Cystinosis | Cystinuria | Cystitis | Cystitis, Interstitial | D-2-Hydroxyglutaric Aciduria | Danon Disease | Delayed Sleep Phase Syndrome | Delirium | Dementia | Dementia, Vascular | DEND Syndrome | Dengue Hemorrhagic Fever | Dengue Shock Syndrome | Dent Disease | Dental Caries | Dentinogenesis Imperfecta | Depression | Dermatitis | Dermatitis Herpetiformis | Dermatofibrosarcoma | Dermatomyositis | Desbuquois Syndrome | Desmosterolosis | Diabetes | Diabetes Gestational | Diabetes Insipidus | Diabetes Insipidus, Nephrogenic | Diabetes Insipidus, Neurogenic | Diabetes Mellitus, Transient Neonatal | Diabetes Type 1 | Diabetes Type 2 | Diabetic Encephalopathy | Diabetic Macular Edema | Diabetic Nephropathy | Diabetic Neuropathy | Diamond-Blackfan Anemia | Diarrhea | Diastrophic Dysplasia | DICER1 Syndrome | Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia | Diffuse Intrinsic Pontine Glioma | Diffuse Mesangial Sclerosis | Diffuse Palmoplantar Keratoderma | DiGeorge Syndrome
