Autosomal and X-chromosomal Diseases

Autosomal Diseases (Including mitochondrial diseases caused by mutations in the nuclear genome) are among the most well-understood genetic disorders given their straightforward inheritance patterns (recessive or dominant) and relatively simple genetic etiology.

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Haemophilia A Haemophilia B Beta Thalassemia Wilson Disease (WD) Oculocutaneous Albinism type 1 (OCA1) Huntington Disease (HD) Myotonic Dystrophy (DM) Friedreich ataxia 1 (FRDA) Spinocerebellar ataxia 1 (SCA1) Spinocerebellar ataxia 2 (SCA2) Spinocerebellar ataxia 3 (SCA3) Spinocerebellar ataxia 6 (SCA6) Spinocerebellar ataxia 7 (SCA7) Non-syndromic Hearing Loss (DFNB1A) Usher Syndrome type I Oculocutaneous Albinism type 2 (OCA2) Oculocutaneous Albinism type 4 (OCA4) Spinocerebellar ataxia 12 (SCA12) Aniridia Primary Open Angle Glaucoma (POAG) Primary Angle Closure Glaucoma (PACG) Menkes Disease Retinitis Pigmentosa (RP) Parkinson Disease (PD) Congenital Hereditary Endothelial Dystrophy 2 (CHED2) Lafora Disease Non-syndromic Hearing Loss (DFNB3) Cystic Fibrosis Achondroplasia Autosomal recessive infantile malignant osteopetrosis (OPTB1) Becker Muscular Dystrophy Carbonic Anhydrase Deficiency II Congenital cataract Cystinosis nephropathic Duchenne Muscular Dystrophy Dyskeratosis congenita Glanzmann Thrombasthenia H syndrome Haim Munk Syndrome Hermansky-Pudlak Syndrome 1 Megaloblastic Anemia Microspheropakia Oculocutaneous Albinism type 3 (OCA3) Papillon-Lefevre syndrome Peutz-Jeghers syndrome Porphyria Purpura Rhizomelic Chondrodysplasia Punctata type 1 Rett Syndrome Farber lipogranulomatosis Autosomal recessive infantile malignant osteopetrosis (OPTB4) Hermansky-Pudlak Syndrome 9 Biotidinase Deficiency Costello Syndrome Dyggve-Melchior-Clausen Granular corneal dystrophy Type I Gelatinous drop-like corneal dystrophy Lattice corneal dystrophy Type I Nance-Horan Syndrome Permanent neonatal Diabetes Mellitus Renal Cysts and Diabetes (RCAD) Syndrome Distal renal tubular acidosis Hereditary Hypophosphatemic Ricket with Hypercalciuria X-linked hypophosphatemic rickets Incontinetia pigmenti Familial tumoral calcinosis Frasier syndrome Hypertrophic cardiomyopathy I Keratoconus Myotubular Myopathy Pure Gonadal Dystrophy Leber congenital amaurosis Familial hypercholesterolemia (FH) Familial hypertrophic cardiomyopathy -4 Fragile X Syndrome X-linked agammaglobulinemia Allgrove syndrome Venous thrombosis Autosomal recessive hereditary neuropathy (Charcot-Marie-Tooth disease, type 4B1) Transient neonatal diabetes Neurodegeneration with Brain Iron Accumulation, Type 1 Terminal 4q deletion syndrome Chronic infantile neurological cutaneous articular (CINCA) syndrome Congenital Generalized Lipodystrophy, Type 2 Crigler-Najjar Syndrome, type I Hypofibrinogenemia Androgen insensitivity syndrome Glycogen storage disease Ia Hereditary Inclusion Body Myopathy 2 Leber congenital amaurosis 2 Macular Corneal Dystrophy X-linked hypohidrotic ectodermal dysplasia 1 Hypohidrotic-Hair-Tooth type Ectodermal Dysplasia 10B Arrhythmogenic right ventricular dysplasia 2 Arrhythmogenic right ventricular dysplasia 9 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Chronic Pancreatitis Congenital erythropoietic porphyria (Gunther disease) Congenital nongoitrous hypothyroidism-4 (CHNG4) Dilated cardiomyopathy with woolly hair and keratoderma (Carvajal syndrome) Factor V deficiency Focal dermal hypoplasia (Goltz syndrome) Gilbert Syndrome Isolated growth hormone deficiency (IGHD) type IA Isolated growth hormone deficiency (IGHD) type IB Alzheimers Autism Spectrum Disorder Colorectal Cancer Diabetic Retinopathy Esophageal Cancer Gastric Cancer Hepatocellur Cancer Lung Cancer Prostate Cancer Psoriasis High Altitude Pulmonary Edema Intrauterine Growth Restriction (IUGR) Postlingual Hearing Loss Hypertrophic Cardiomyopathy Myelodysplastic Syndrome Acyl-CoA Dehydrogenase, Short-Chain ADCY5-Related Dyskinesia Adrenal Hypoplasia, Congenital Alagille Syndrome I Alkaptonuria Alopecia Totalis With Vitamin D-Dependent Rickets Type 2A Alpha-Thalassemiamental Retardation Syndrome, X-Linked_ ATRX Alport Syndrome 3 Alzheimer Disease 3 Ameloblastoma Andersen Disease (Gsd IV) Androgen Insensitivity, Partial Anemia, Sideroblastic, 1 Anencephaly 1 Angelman Syndrome Anophthalmia, Microphthalmia 3 Anophthalmia, Microphthalmia 5 Anophthalmia, Microphthalmia 15 Anti Thrombin III Deficiency Apert_S Syndrome Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Arthrogryposis Multiplex Congenita 2, Neurogenic Type Arthrogryposis, Distal, Type 5D Ataxia Telangiectasia Bardet-Biedl Syndrome 3 Bardet-Biedl Syndrome 5 Bardet-Biedl Syndrome 10 Bartter Syndrome, Type 2 Best Disease (Vitelliform Macular Dystrophy 2) Birt-Hogg-Dubé Syndrome Blackfan-Diamond Disease 1 Blackfan-Diamond Disease 6 Blackfan-Diamond Disease 10 Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Bohring-Opitz Syndrom Campomelic Dysplasia Camptodactyly-Arthropathy-Coxavara-Pericarditis Syndrome (Common Mutation) Canavan Disease Carasil Cardiomyopathy, Dilated, 1A Cardiomyopathy, Dilated, 1DD Cardiomyopathy, Dilated, 1I Cardiomyopathy, Dilated, 1NN Cardiomyopathy, Dilated, 1S Cartilage Hair Hypoplasia Cataract, Autosomal Recessive Congenital 2 Cataract, Autosomal Recessive Congenital 4 Cataract, Autosomal Recessive Congenital 1 Cataract, Congenital Lamellar Cataract, Congenital, Cerulean Type, 2_ CCA2 Cataract, Congenital, Cerulean Type, 3_ CCA3 Cataract, Congenital, Cerulean Type, 4 Cataract, Congenital Nuclear, Autosomal Recessive 3 CDG Syndrome Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy Chanarin-Dorfman Syndrome Charcot-Marie-Tooth Disease, Axonal, Type 2F Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Type 4C Chediak Higashi Syndrome Chondrodysplasia Punctata Rhizomelic Type 1 Chst3 Related Disorder (Sed- Omani) Ciliary Dyskinesia, Primary, 1 Ciliary Dyskinesia, Primary, 5 Ciliary Dyskinesia, Primary, 21 Clouston Syndrome Cohen Syndrome Coloboma Common Variable Immunodeficiency 10 Congenital Contractural Arachnodactyly Congenital Dislocation Of Hip Corneal Dystrophy Avellino Type Creutzfeldt-Jakob Disease (CJD) Criggler Najjar Syndrome_Type 2 Crouzon Disease Cystinosis Diabetes Mellitus Permanent Neonatal (PNDM2) Diabetes Mellitus, Permanent Neonatal 1 Diabetes Mellitus, Transient Neonatal, 2 Diabetes Mellitus,Permanent Neonatal (PNDM3) Dominant Diabetes Mellitus,Permanent Neonatal(PNDM4) Dominant Diabetes,Transient Neonatal 3 (TNDM3) Diastrophic Dysplasia Distal Myopathy 5 Dominant Persistent Hyperinsulinemic Hypoglycemia Of Infancy Dubin Johnson Syndrome Dysferlinopathy Dyskeratosis Congenita, X-Linked Dystonia 1 Or Early-Onset Torsion Dystonia Dystonia 6 Or Torsion Dystonia Dystonia 11 Or Sarcoglycanopathy, Epsilon Dystonia 12 Dystonia 25 Dystonia 27 Dystonia, Dopa-Responsive Early Onset Cutaneous Sarcoidosis Or Blau Syndrome Ectopia Lentis Isolated 1 Epilepsy, Progressive Myoclonic 7 Factor VII Deficiency Congenital Factor X Deficiency Factor XI Deficiency Familial Amyloid Neuropathy Fibrinogen FGG Fibrinogen_FGA Fibrinogen_FGB Focal Segmental Glomerulosclerosis 1 Focal Segmental Glomerulosclerosis 3 Focal Segmental Glomerulosclerosis 8 Focal Segmental Glomerulosclerosis 9 Foot Malformation 4 Foot Malformation 6 Fraser Syndrome 1 Frontotemporal Dementia And_Or Amyotrophic Lateral Sclerosis 1 Frontotemporal Dementia And_Or Amyotrophic Lateral Sclerosis 3 Frontotemporal Dementia And_Or Amyotrophic Lateral Sclerosis 4 Frontotemporal Dementia And_Or Amyotrophic Lateral Sclerosis 7 Fructose-1,6-Bisphosphatase Deficiency Fuchs Endothelial Corneal Dystrophy Fucosidosis Galactosemia_GALK Galactosemia_GALT Galloway-Mowat Syndrome 6 Gaucher Disease Type 1 Gaucher Disease Type 3 Giant Axonal Neuropathy 1 Gitelman Syndrome Glanzmann Thrombasthenia 1 Glanzmann Thrombasthenia 2 Glaucoma 3, Primary Congenital, A Glaucoma 3, Primary Congenital, D Glaucoma, Primary Open Angle Glutaric Aciduria Type I Glutaryl-Coa Dehydrogenase Deficiency Glycogen Storage Disease Type III Glycogen Storage Disease Type VI GM1 Gangliosidosis GNE Myopathy Granulomatous Disease, Chronic, X-Linked Greig Cephalopolysyndactyly Syndrome Growth Hormone Deficiency IV Harlequin Ichthyosis Hemolytic Anemia Due To Glucose Phosphate Isomerase Deficiency Hemolytic Anemia Due To Hexokinase Deficiency Hemolytic Anemia, G6PD Deficient Hemophagocytic Lymphohistiocytosis, Familial, 2 Hemophagocytic Lymphohistiocytosis, Familial, 3 Hemophagocytic Lymphohistiocytosis, Familial, 4 Hereditary Fructose Intolerance Hermansky_3 Hermansky_4 Homocystinuria Hyperkalemic Periodic Paralysis_Type 2 Hyperlipidemia_LPL Hyperlipoproteinemia_APOA5 Hyperoxaluria 1 Hyperparathyroidism 1 Hyperparathyroidism 2 With Jaw Tumors Hyperparathyroidism, Neonatal Severe AD Hyperparathyroidism, Neonatal Severe AR Hyperprolinemia Type II Hypochondroplasia Hypokalemic Periodic Paralysis Hypophosphatasia Hypothyroidism 1 Hypothyroidism Type 4 Ichthyosis, Congenital, Autosomal Recessive 1 Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 4A Ichthyosis, Congenital, Autosomal Recessive 4B Immunodeficiency With Hyper-Igm, Type 3 Jansen’s Metaphyseal Chondrodysplasia (JMC) Johanson Blizzard Syndrome Jouberrt Syndrome 1_INPP5E Jouberrt Syndrome 3_AHI1 Jouberrt Syndrome 6_TMEM67 Jouberrt Syndrome 9_CC2D2A Jouberrt Syndrome 14_TMEM237 Jouberrt Syndrome 18_TCTN3 Jouberrt Syndrome 21_CSPP1 Jouberrt Syndrome 24_TCTN2 Jouberrt Syndrome 26_KATNIP_KIAA0556 Jouberrt Syndrome 30_ARMC9 Jouberrt Syndrome 33_PIBF1 Jouberrt Syndrome 38_KIAA Kallmann Syndrome 2 Krabbe Disease Kufor Rakeb Syndrome Larsen Syndrome Lattice Corneal Distrophy Tpye 1 Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 5 Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7 Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 12 Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 10 Lesch-Nyhan Syndrome Leukocyte Adhesion Deficiency, Type I Leukodystrophy 6 Leukodystrophy 7 Leukodystrophy 11 Leukodystrophy 17 Limb Girdle Muscular Dystrophy 1 Or Type 2A Limb Girdle Muscular Dystrophy 7 Limb Girdle Muscular Dystrophy 8 Limb Girdle Muscular Dystrophy C, 14 Lipodystrophy, Berardinelli Type Type 2 Long QT Syndrome 3 Maple Syrup Urine Disease, Type 1A Maple Syrup Urine Disease, Type 1B Maple Syrup Urine Disease, Type 2 Marfan Syndrome Maroteaux-Lamy Syndrome (Mps VI) Meckel Syndrome, Type 1 Meckel Syndrome, Type 4 Meckel Syndrome, Type 6 Meckel Syndrome, Type 10 Meckel Syndrome, Type 14 Meleda Disease Menkes Diseases Metachromatic Leukodystrophy Metachromatic Leukoencephalopathy Metaphyseal Dysplasia- Osteosclerotic Metatropic Dysplasia Methylmalonic_MMAA Methylmalonic_MMAB Microspherophakia Migraine_CACNA1A Mitochondrial Complex Iii Deficiency, Nuclear Type 8 Mitochondrial Neurogastrointestinalencephalomyopathy (MNGIE) MODY1 MODY2 MODY3 MODY4 MODY6 MODY9 MODY10 MPS IV Amorquio A Muckle-Wells Syndrome Mucolipidosis IV Mucopolysaccharidoses IVA Mucopolysaccharidoses Type I--Hurler Mucopolysaccharidoses Type I--Hurler–Scheie Mucopolysaccharidosis Type II Mucopolysaccharidosis Type III A Mucopolysaccharidosis Type VI Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2 Myotonia Congenita Myotubulat Myopathy Nail-Patella Syndrome Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 3 Nephrotic Syndrome, Type 4 Nephrotic Syndrome, Type 9 Netherton Syndrome Neurofibromatosis 1 Neurofibromatosis-Noonan Syndrome Neutropenia, Type 1 Neutropenia, Type 6 Niemann-Pick Disease, Type C2 Night Blindness, Congenital Stationary, Type 1B Night Blindness, Congenital Stationary, Type 1C Night Blindness, Congenital Stationary, Type 1D Night Blindness, Congenital Stationary, Type 1E Nomid Non Syndromic Hearing Loss (DFNB1A) Noonan Syndrome 1 Noonan Syndrome 8 Norrie Disease Oculo Dentodigital Dysplasia Optic Nerve Hypoplasia Ornithine Transcarbamylase Deficiency Osteogenesis Imperfecta, Type 1 Osteogenesis Imperfecta, Type IX Osteogenesis Imperfecta, Type VII Osteogenesis Imperfecta, Type XI Osteogenesis Imperfecta, Type XV Osteopetrosis 3 Pachyonychia Congenita 2 Pachyonychia Congenita 3 Palmoplantar Keratoderma 2 Palmoplantar Keratoderma With Deafness Pantothenate Kinase-Associated Neurodegeneration (PKAN) Parkinson Disease 4_ And_Parkinson Disease 1 Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset Parkinson Disease 20 Permanent Neonatal Diabetes Mellitus (PNDM3) Recessive Permanent Neonatal Diabetes Mellitus (PNDM4) Recessive Persistent Hyperinsulinemic Hypoglycemia In Infants 2 Persistent Hyperinsulinemic Hypoglycemia Of Infancy (PHHI) PFIC 1 PFIC 2 PFIC 3 PFIC 5 Phenylketonuria PLA2G6-Associated Neurodegeneration Pompe Diseasegsd Type II Pontocerebellar Hypoplasia, Type 9 Progeria, Hutchinson-Gilford Progressive Pseudorheumatoid Dysplasia Protein C Deficiency Prothrombin Deficiency Pyknodysostosis Pyridoxinedependent Epilepsy Pyruvate Kinase Deficiency Rabson-Mendenhall Syndrome Recessive Persistent Hyperinsulinemic Hypoglycemia Of Infancy Refsum_S Disease Renal Agenesis, Bilateral Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia Retinitis Pigmentosa 11 Retinitis Pigmentosa 14 Retinitis Pigmentosa 19 Retinitis Pigmentosa 20 Retinitis Pigmentosa 25 Retinitis Pigmentosa 28 Retinitis Pigmentosa 38 Retinitis Pigmentosa 51 Retinitis Pigmentosa 85 Retinoschisis Rett Syndrom Roberts Syndrome Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 3 Robinow Syndrome, Autosomal Recessive 1 Rothmund Thomson Rubinstein-Taybi Syndrome Type 1 Rubinstein-Taybi Syndrome Type 2 Sakati Syndrome Sandhoff Disease Schwartz-Jampel Syndrome, Type 1 Setleis Syndrome Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency Severe Combined Immunodeficiency, X-Linked Sialidosis 1 Sialidosis, Type II Sickle Cell Anemia Spastic Paraplegia 2, X-Linked Spastic Paraplegia 4, Autosomal Dominant Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 50 Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum Spherocytosis, Type 1 Spherocytosis, Type 2 Spherocytosis, Type 3 Spherocytosis, Type 4 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Spondyloepiphyseal Dysplasia Tarda, X-Linked Spondyloepiphyseal Dysplasia, Congenital Spondylometaphyseal Dysplasia Stargardt Disease 1 Stickler Syndrome I Tay-Sachs Disease Tetralogy Of Fallot Three M Syndrome 1 Three M Syndrome 2 Thrombocytopenic Purpura Tooth Agenesis, Selective, 1 Tooth Agenesis, Selective, 3 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 Tyrosinemia 1 Urolithiasis, 2,8-Dihydroxyadenine Usher Syndrome, Type I Venous Thrombosis (Factor V Leiden) Vitamin D-Dependent Rickets (VDDR) Type 1 Von Hippel-Lindau Disease Von Willebrand Disease Waardenburg Syndrome 4B Waardenburg Syndrome Type2A Warburg Micro Syndrome 1 Weill-Marchesani Syndrome 4 Werner Syndrome Wiedemann Rautenstrauch Syndrome Xanthomatosis Cerebrotendinous X-Linked Hypophosphatemic Rickets Dominant 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome 3-Methylglutaconic Aciduria Viii Acanthocytosis Chorea Achalasia Achondrogenesis Type 1A Acquired Autoimmune Hemolytic Anemia Acrocephalosyndactyly Type V Acromesomelic Dysplasia 1 Acromesomelic Dysplasia 4 A-Isolated growth hormone deficiency (IGHD) type IA Aniridia 1 Arrhythmogenic right ventricular dysplasia 9 (ARVD9) Congenital endothelial dystrophy 2 (CHED) Haim-Munk syndrome (HMS) Hyperekplexia 3 Keratoconus 1 Oculocutaneous albinism (OCA)1 Oculocutaneous albinism (OCA)4 Peutz–Jeghers syndrome WILLSON DISEASES