Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Saccharopinuria |
|
Citrullinuria, Short stature, Elevated circulating sacchoropine concentration, Histidinuria, Sacc... |
OMIM:268700 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Saccharopinuria |
|
Citrullinuria, Short stature, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic dipleg... |
ORPHA:3124 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
OMIM:610717 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
OMIM:620138 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
Threoninemia |
|
Growth delay, Hyperthreoninuria, Hyperthreoninemia |
OMIM:273770 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... |
OMIM:618848 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... |
OMIM:617872 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... |
ORPHA:178464 |
Iminoglycinuria |
|
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ... |
OMIM:230350 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:619733 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Tremor, Growth delay, Decreased serum creatinine, Intrauterine growth retardation,... |
OMIM:617744 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperglycinuria, Hyperprolinemia, Prolinuria |
OMIM:239510 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine, Failure to thrive, Hyperbeta-alaninemia |
OMIM:237400 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes... |
OMIM:609560 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:619868 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... |
ORPHA:266 |
Valinemia |
|
Hypervalinemia, Valinuria, Failure to thrive, Hyperkinetic movements |
OMIM:277100 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... |
ORPHA:488650 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:613204 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria |
ORPHA:419 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... |
OMIM:613310 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypertriglyceridemia, Short stature |
ORPHA:366 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Carnosinuria |
OMIM:309930 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... |
OMIM:615924 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Hyperprolinemia, Type I |
|
Ataxia, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinuria |
OMIM:239500 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase concentration, Cache... |
ORPHA:1933 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Elevated circulating aspartate... |
OMIM:300555 |
Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abnormality ... |
ORPHA:275555 |
Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Incoordination, Homocystinuria, Hyperhomocystinemia |
OMIM:236250 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Centrally nucleated skel... |
OMIM:620235 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
OMIM:619386 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con... |
OMIM:620386 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Argininemia |
|
Hemiplegia/hemiparesis, Diaminoaciduria, Progressive spastic quadriplegia, Hyperammonemia |
ORPHA:90 |
Myopathy, Distal, Tateyama Type |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:614321 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin... |
OMIM:616733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... |
OMIM:300717 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia |
OMIM:238750 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat... |
OMIM:616471 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Acute hepatitis, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic gait, ... |
OMIM:238970 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Spastic dysarthria, Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia, Distal lowe... |
ORPHA:94124 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Methylmalonic acidemia, Short stature, Chorea, Methylmalonic aciduria, Hyperhomocystinemia, Chore... |
OMIM:309541 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increas... |
ORPHA:681 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... |
OMIM:616924 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:619473 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... |
OMIM:300718 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300696 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Elevated... |
OMIM:613954 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Myopathy, Limb... |
OMIM:612937 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction |
OMIM:608320 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Glutamate Formiminotransferase Deficiency |
|
Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chlor... |
OMIM:229100 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria |
ORPHA:79238 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... |
ORPHA:171442 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Elevated circulating creatine kinase concentration, Camptodactyly of finger, Diaphr... |
OMIM:614399 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle, Proteinuria |
OMIM:614652 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ... |
OMIM:253601 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:618129 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... |
OMIM:608807 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... |
OMIM:616188 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit... |
OMIM:611615 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra... |
ORPHA:1878 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:98863 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:98853 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Diaminopentanuria |
|
Spasticity, Hyperlysinuria, Ataxia, Cystinuria |
OMIM:222350 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Am... |
OMIM:615605 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:619566 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperlysinuria |
OMIM:238700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis |
OMIM:158580 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Failure to thrive, Severe short stature |
ORPHA:2278 |
Preeclampsia/Eclampsia 1 |
|
Hypertension |
OMIM:189800 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... |
OMIM:242530 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... |
ORPHA:98855 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Stimmler Syndrome |
|
Intrauterine growth retardation, Aminoaciduria, Short stature, Ataxia |
ORPHA:3199 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Patent ductus arteriosus, Elevated circulating creatinine concentration, Cholestasi... |
OMIM:608104 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Skeletal muscle atrophy, Small for gestational age, Elevated circulating ... |
OMIM:612073 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Growth delay, Hypertriglyceridemia |
OMIM:618010 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Frequent falls, Sternoclei... |
OMIM:256030 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s... |
ORPHA:363400 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Postural tremor, Fatty r... |
OMIM:619790 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia, Ataxia |
OMIM:607250 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Tremor, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concent... |
OMIM:274150 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... |
OMIM:605850 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia, Gait ata... |
OMIM:208920 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Ataxia, Elevated circulating creatine kinase concentration, Increased urinary s... |
OMIM:272300 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Sarcosinemia |
|
Peroneal muscle weakness, Ataxia, Hypersarcosinemia, Tetraparesis, Hypersarcosinuria |
ORPHA:3129 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Spastic tetraparesis, Hyperglutaminemia, Lacticaciduria, Hyperprol... |
OMIM:616299 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... |
OMIM:603689 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Nephropathy, Chronic kidney disease, Elevated circulating creatinine concentration... |
OMIM:617056 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis, Tremor |
ORPHA:212 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypertriglyceridemia, Short... |
ORPHA:79240 |
Hypertryptophanemia |
|
Camptodactyly of finger, Tryptophanuria, Hypertryptophanemia |
OMIM:600627 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Short stature |
ORPHA:417 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger |
ORPHA:1325 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
Hartnup Disorder |
|
Episodic ataxia, Hypertonia, Short stature, Neutral hyperaminoaciduria |
OMIM:234500 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Splen... |
OMIM:607616 |
Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, ... |
ORPHA:238329 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Camptodactyly 1 |
|
Increased urinary taurine, Camptodactyly of finger |
OMIM:114200 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... |
OMIM:613404 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Hand muscle weakness, Vocal cord paralysis, Distal amyotrophy, Weakness of f... |
OMIM:607641 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Lysine Malabsorption Syndrome |
|
Growth delay, Hyperlysinuria, Renal tubular lysine transport defect |
OMIM:247950 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy... |
OMIM:306000 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased endomys... |
OMIM:620265 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Short stature, Hepato... |
OMIM:619013 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... |
ORPHA:264580 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Glutamate-Cysteine Ligase Deficiency |
|
Ataxia, Jaundice, Hepatosplenomegaly, Myopathy, Aminoaciduria |
ORPHA:33574 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Severe short stature, Muscular dystrophy |
OMIM:204730 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... |
ORPHA:401768 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Argininosuccinic Aciduria |
|
Short stature, Ataxia, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargi... |
ORPHA:23 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Postnatal growth retardation, Tremor, Rigidity, C... |
ORPHA:391417 |
Alg6-Cdg |
|
Ataxia, Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality of the liver... |
ORPHA:79320 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Porphyria, Acute Hepatic |
|
Elevated urinary delta-aminolevulinic acid, Failure to thrive, Respiratory paralysis, Paralysis |
OMIM:612740 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Elevated circulating creatine kinase concentration, Frequent falls, Abnormal muscle ... |
ORPHA:75840 |
Cystinosis |
|
Renal insufficiency, Short stature, Proteinuria, Portal hypertension, Abnormal pyramidal sign, Re... |
ORPHA:213 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... |
OMIM:603813 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Myocardial infarction |
OMIM:610947 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:232400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c... |
OMIM:615158 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Galloway-Mowat Syndrome 6 |
|
Short stature, Proteinuria, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... |
OMIM:618347 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Glycine Encephalopathy 1 |
|
Hyperglycinuria, Hyperglycinemia, Myoclonus |
OMIM:605899 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... |
OMIM:617093 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... |
ORPHA:353 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria |
OMIM:245900 |
Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Oroticaciduria, Micronodular cirrhosis, Hyperammonemi... |
OMIM:207800 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L... |
ORPHA:86812 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Par... |
OMIM:176200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... |
OMIM:618138 |
Homocarnosinosis |
|
Spastic paraplegia, Carnosinuria |
OMIM:236130 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Hypouricemia, Short stature, Prot... |
OMIM:616026 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypocalcemia... |
OMIM:612526 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Abnormality of the kidney, Proteinuri... |
ORPHA:369 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis |
OMIM:616286 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ataxia, Microno... |
ORPHA:98907 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ataxia, Spastic tetraparesis, Hemiplegia/hemiparesis, Aminoaciduria, Spasticity |
ORPHA:833 |
Plin1-Related Familial Partial Lipodystrophy |
|
Calf muscle hypertrophy, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis |
ORPHA:280356 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Paralysis |
OMIM:613710 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Shallow anterior chamber, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... |
OMIM:618484 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Hand muscle wea... |
ORPHA:98908 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper... |
OMIM:617156 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... |
OMIM:620249 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Growth delay, Hypoalbuminemia, Steato... |
OMIM:246700 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... |
OMIM:256300 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Ataxia, Increased level of gamma-aminobutyric acid in uri... |
OMIM:271980 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... |
OMIM:611705 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Claw hand deformity, Paralysis |
OMIM:605285 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Analbuminemia |
|
Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester... |
OMIM:616000 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:300635 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract |
ORPHA:324416 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive |
OMIM:236795 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Poor coordination, Hyperhomocystinemia, Failure to thrive, Homocystinuria |
OMIM:250940 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
Hydroxykynureninuria |
|
Aminoaciduria, Jaundice |
OMIM:236800 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... |
ORPHA:270 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Am... |
OMIM:277900 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Hypertoni... |
OMIM:236270 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Elevated circulatin... |
OMIM:617114 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... |
OMIM:278000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype... |
OMIM:613157 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria, Hypertonia, 3... |
OMIM:604273 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Elevated circulating aspar... |
OMIM:227810 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra... |
OMIM:617072 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Abn... |
ORPHA:79233 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Elevated circulating cr... |
OMIM:614376 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Gait ataxia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili... |
ORPHA:397744 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Short stature, Overweight, Flexion contracture, ... |
OMIM:616222 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Butyrylcholinesterase Deficiency |
|
Abnormality of the liver, Paralysis |
ORPHA:132 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Growth delay, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Hepatic steatosis, Elevated circulating creatine kinase concentration, H... |
OMIM:615980 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Ataxia, Proteinuria, Mesangial hypercellularit... |
OMIM:617575 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Clonus, Spastic te... |
OMIM:619055 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Parkin... |
OMIM:258450 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Short stature, Hypercalcemia, Proteinuria, Macroscopic ... |
ORPHA:251004 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Inc... |
OMIM:232800 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... |
ORPHA:88618 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Increased muscle lipid ... |
OMIM:608836 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria |
OMIM:606528 |
Leber Congenital Amaurosis 1 |
|
Growth delay, Hyperthreoninuria, Hyperthreoninemia, Hepatomegaly |
OMIM:204000 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Short stature, Distal amyotrophy, Type 1 muscle fiber predominance, Increased va... |
OMIM:619042 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Incoordination, Elevated circulating creatinine concentration, Growth delay, Increased blood urea... |
OMIM:223900 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Porta... |
OMIM:619487 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Lipodystrophy, Familial Partial, Type 4 |
|
Skeletal muscle hypertrophy, Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Hypokalemia, Periodic paralysis |
OMIM:613345 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated ... |
ORPHA:682 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Obesity, T... |
OMIM:616267 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Flexio... |
ORPHA:367 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Splenomegaly, Abnormality of s... |
ORPHA:79083 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal ... |
ORPHA:52430 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Lipe-Related Familial Partial Lipodystrophy |
|
Proximal muscle weakness in upper limbs, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... |
ORPHA:435660 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir... |
ORPHA:119 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Incoordination, Ataxia, Clonus, Tetraplegia, Choreoathetosis, Hyperlysinuria, Decreased plasma fr... |
OMIM:616034 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Ataxia, Spastic tetraparesis, Intention tremor |
OMIM:266130 |
Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Postnatal growth retardation, Ragged-red muscle fibers, Nephrolithiasis, Cystinuria... |
OMIM:606407 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... |
OMIM:276700 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hand tremor, Proximal amyotrophy, Tetraplegia, Fasciculations, Mildly elevated cr... |
OMIM:604484 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Spastic tetraparesis, Hyper... |
OMIM:605711 |
Osteopetrosis, Autosomal Recessive 9 |
|
Postnatal growth retardation, Stage 3 chronic kidney disease, Elevated circulating creatinine con... |
OMIM:620366 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:613101 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Short stature, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, ... |
OMIM:619065 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ... |
ORPHA:71 |
Familial Cervical Artery Dissection |
|
Abnormal circulating lipid concentration, Facial palsy, Paralysis |
ORPHA:36382 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus, Nonketotic hyperglycinemia, Spastic tetraplegia, Opisthotonus, Growth d... |
OMIM:220120 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Aminoaciduria, Myoclonus, Truncal ataxia, Failure to thrive |
OMIM:250620 |
Snakebite Envenomation |
|
Hyponatremia, Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fi... |
ORPHA:449285 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Short stature, Ataxia,... |
ORPHA:812 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Skeletal muscle hypertrophy, Macroglossia, Cirrhosis, Hyperch... |
ORPHA:528 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hyperglutami... |
OMIM:207900 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Acute hyperammonemia, Cerebral palsy, Ketonuria, Hyperglycinuria, Hypera... |
OMIM:210210 |
Gitelman Syndrome |
|
Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Rhabdomyolysis, Growth delay, Enuresis, Hyp... |
OMIM:263800 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Short stature, Elevated h... |
ORPHA:1667 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Relapsing Fever |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... |
ORPHA:91547 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle... |
OMIM:254090 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increase... |
OMIM:603553 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Spastic tetraparesis, Abnormal pyramidal si... |
ORPHA:436271 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Spastic tetraplegia, Hyperglycinemia, Arthrogryposis multiplex congenita, Beta-aminoisobutyric ac... |
OMIM:615330 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Lower limb spasticity, Renal insufficiency, Hepatomegaly, Foot joi... |
ORPHA:90321 |
Autoinflammation With Infantile Enterocolitis |
|
Short stature, Elevated circulating C-reactive protein concentration, Increased circulating ferri... |
OMIM:616050 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypophosphatemia, Hypopho... |
OMIM:618913 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Ataxia, Eleva... |
OMIM:618384 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem... |
ORPHA:79506 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertonia, Left ventricular noncompaction, Incre... |
OMIM:617228 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Abnormality of skeletal muscle ... |
ORPHA:2348 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Hepatomegaly, Hypolysinemia, Short stature, Increased circulating ferrit... |
OMIM:222700 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Tremor, Paral... |
ORPHA:79102 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosi... |
OMIM:602579 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li... |
ORPHA:79327 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal... |
OMIM:613388 |
D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Chorea, Hyperglycinuria, Nonketotic hyperglycinemia,... |
ORPHA:941 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:261476 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogryposis |
OMIM:616287 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypouricemia, Increased urinary taurine, Limb hypertonia, Hypertonia, Hypertaurinemia, Hypocystin... |
OMIM:615501 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, F... |
ORPHA:79319 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Propionic Acidemia |
|
Hepatomegaly, Short stature, Increased level of hippuric acid in urine, Hyperglycinuria, Hyperamm... |
OMIM:606054 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... |
OMIM:615558 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Hypouricemia, Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Ab... |
OMIM:252150 |
Glutathionuria |
|
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor |
OMIM:231950 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Paralysis, Hypocitraturia, Nephrolithiasis, Renal cyst, Hyperca... |
ORPHA:18 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... |
OMIM:300009 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Hypokalemia, Periodic paralysis |
OMIM:170400 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Lessel-Kubisch Syndrome |
|
Hypertension |
OMIM:618681 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... |
OMIM:239200 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Cholelithiasis, ... |
OMIM:611881 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Glycosuria, Amin... |
OMIM:220110 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Decreased serum cre... |
OMIM:618885 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Short stature, Abnormal renal morphology, Increased body weight, Abnormalit... |
OMIM:182290 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Oligomeganephronia |
|
Renal insufficiency, Small for gestational age, Proteinuria, Congenital diaphragmatic hernia, Uni... |
ORPHA:2260 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Jaundice, Aminoaciduria, Polycy... |
OMIM:214110 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... |
OMIM:604367 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Patent ductus arteriosus, Hematuria, Hypoalbuminemia, Decreased liver ... |
OMIM:617021 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Incoordination, Small for gestational age, Short stature, C... |
OMIM:277380 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ... |
ORPHA:99947 |
Pseudohypoaldosteronism Type 2 |
|
Growth delay, Hyperkalemia, Short stature, Periodic paralysis |
ORPHA:757 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Methylmalonic aciduria, Hype... |
OMIM:614857 |
Polycystic Kidney Disease 5 |
|
Hypertension |
OMIM:617610 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Tendon xanthomatosis, Dysmetria, Clumsiness, Increased LDL choleste... |
OMIM:277460 |
Optic Atrophy 11 |
|
Short stature, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Hyperki... |
OMIM:617302 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Complex organic ac... |
ORPHA:506 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:540 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hepatic... |
ORPHA:435651 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Obesity |
OMIM:617885 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... |
OMIM:203800 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre... |
OMIM:300580 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a... |
OMIM:615381 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... |
ORPHA:98897 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly... |
ORPHA:79101 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria, Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
Hypotonia-Cystinuria Syndrome |
|
Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Weakness of facial musculature, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... |
OMIM:219800 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypercalciuria, Hypouricemia, Increased urinary potassium, Chro... |
ORPHA:3337 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Rhabdomyolysis, Periodic paralysis, Weight loss |
OMIM:188580 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Proximal muscle weakness in upper limbs, Flexion contracture, Proximal muscle weakness in lower l... |
OMIM:607706 |
Immunodeficiency 27A |
|
Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Weight loss |
OMIM:209950 |
Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Elevated circulating creatine kinase concentration, Ataxia, Tremor, Dysmetria, Lim... |
OMIM:617675 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia |
ORPHA:507 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor, Periodic paralysis |
OMIM:609153 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Canavan Disease |
|
Abnormal pyramidal sign, Elevated urinary N-acetylaspartic acid level, Increased circulating N-ac... |
OMIM:271900 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Growth delay, Aminoaciduria, Myoclonus, Elevated hepatic iron conce... |
OMIM:614946 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria |
ORPHA:414 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myop... |
OMIM:255125 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension |
OMIM:145260 |
Bacterial Toxic-Shock Syndrome |
|
Myositis, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine ... |
ORPHA:36234 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke |
OMIM:615750 |
Hyperlysinemia |
|
Failure to thrive, Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis,... |
ORPHA:2203 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ataxia, Proteinuria, Tremor, Flex... |
OMIM:212065 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Nodular regenerative hyperplasia of liver, Nephropathy, Elevated circulating creatin... |
ORPHA:247691 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract |
OMIM:613763 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Acute pancreatiti... |
ORPHA:79086 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Short stature, Obesity |
ORPHA:329249 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrovesicular hepat... |
OMIM:618329 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... |
OMIM:308240 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor... |
OMIM:120330 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Short stature, Tremor, Increased variability in muscle fiber diameter, Dysmetria, Increased muscl... |
ORPHA:502423 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Rabies |
|
Vocal cord paresis, Cerebral palsy |
ORPHA:770 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Hypoalbuminemia, Hepatic fibrosi... |
ORPHA:14 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated ... |
OMIM:614105 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Flexion contracture, Macroglos... |
OMIM:617303 |
Immunodeficiency 32B |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Hypoalbuminemia |
OMIM:226990 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypouricemia, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Spastic tet... |
OMIM:252160 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Short stature, Ataxia |
OMIM:249270 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic stea... |
OMIM:124000 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Facial palsy, Limb-girdle muscle weakness, Fl... |
ORPHA:171436 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... |
OMIM:606070 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Failure to t... |
ORPHA:2089 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... |
ORPHA:3287 |
Intermediate Uveitis |
|
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... |
ORPHA:279914 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Postural tremor, Proteinuria, Action tremor, Gait ataxia, Ne... |
OMIM:254900 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Renal hypoplasia/aplasia, Abno... |
ORPHA:819 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Dermotrichic Syndrome |
|
Aminoaciduria, Proportionate short stature |
ORPHA:99688 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,... |
ORPHA:542323 |
Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Short stature, Facial palsy, Centrally nucleated skelet... |
OMIM:602771 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... |
ORPHA:85443 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... |
OMIM:229600 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo... |
ORPHA:94080 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Charcot-Marie-Tooth Disease Type 4A |
|
Frequent falls, Hand muscle weakness, Quadriceps muscle weakness, Denervation of the diaphragm, P... |
ORPHA:99948 |
Senior-Loken Syndrome |
|
Hypertension |
ORPHA:3156 |
Potocki-Shaffer Syndrome |
|
Hypertension |
ORPHA:52022 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Nephrocalcinosis, Hypernatriuria, Hyperp... |
ORPHA:90041 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Tremor, Cystathionin... |
OMIM:277400 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Grow... |
ORPHA:411629 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Abnormal... |
ORPHA:29073 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Severe short stature, Proteinuria, Cachexia, ... |
OMIM:610965 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension |
ORPHA:79084 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... |
OMIM:619418 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Short stature, Proteinuria, Stage 5 chronic kidney disease, Nephroti... |
OMIM:617729 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... |
ORPHA:47159 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypoph... |
ORPHA:398063 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... |
OMIM:137920 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Facial palsy, Elevated circulating creatine kinase concentration, Clonus, Tremor, T... |
OMIM:619424 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Growth delay, Nephrocalcinosis, Aminoac... |
OMIM:617913 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Small for gestational age, Short stature, Hypospadias, Abnormality of the pancreas,... |
OMIM:222470 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Short stature, Hydroxyprolinemia, Hypercalciuria, Hyperp... |
OMIM:239000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Short stature, De... |
ORPHA:79259 |
Amyloidosis, Familial Visceral |
|
Hypertension |
OMIM:105200 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Ataxia, Proteinuria |
OMIM:603585 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis, Abnormal b... |
ORPHA:684 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Renal insufficiency, Short stature, Elevated circulating creatine kinase conce... |
OMIM:309000 |
Lysosomal Acid Lipase Deficiency |
|
Renal salt wasting, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosplen... |
ORPHA:275761 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... |
ORPHA:2457 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Patent ductus arteriosus, Macroglossi... |
OMIM:214100 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Ataxia, Centrally nucleated skeletal muscle fibers, Ra... |
OMIM:607459 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... |
OMIM:620161 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis, Weight loss |
OMIM:613239 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Short stature, Hyperglycerolemia, Increased urin... |
OMIM:307030 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis |
ORPHA:640 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
Myasthenic Syndrome, Congenital, 22 |
|
Short stature, Cystinuria |
OMIM:616224 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Lower limb spasticity, Ataxia, Lower limb muscle weakness, Hyperhomocystinemia... |
ORPHA:395 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
Chronic Bilirubin Encephalopathy |
|
Cerebral palsy, Hypertonia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Cerebral palsy, Hypertonia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal... |
ORPHA:529799 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... |
ORPHA:43 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hemiplegia/hemiparesis, Ren... |
ORPHA:156 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Short stature, Ataxi... |
OMIM:251300 |
Eosinophilic Gastroenteritis |
|
Weight loss, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea |
ORPHA:2070 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:600666 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556037 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Paralysis |
OMIM:105500 |
Creatine Phosphokinase, Elevated Serum |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... |
OMIM:123320 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated... |
OMIM:617253 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis... |
OMIM:267200 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Calf muscle pseudohypertrophy, Neurogenic bladder, Abetalipoproteinemia, Elevated circulating cre... |
ORPHA:96180 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hypoalbuminemia, Generalized amyotrophy, Hepatic fibrosis, Neoplasm of the... |
ORPHA:171 |
Japanese Encephalitis |
|
Hyponatremia, Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial pal... |
ORPHA:79139 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Paralysis |
OMIM:612300 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Short stature, Hyperuricemia |
ORPHA:364 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hom... |
OMIM:236200 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Short stature, Proteinuria, H... |
OMIM:232200 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,... |
ORPHA:186 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Splenomegaly, Flexio... |
OMIM:617591 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Conjugated hyperbi... |
ORPHA:79303 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria |
OMIM:174810 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556030 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Short stature, Motheaten muscle fibers, Muscular dystrophy, Increased variabi... |
OMIM:226670 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Failure to thrive, Decreased serum iron, Flexion contracture, Growth del... |
ORPHA:89842 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension |
OMIM:616069 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis, Hand muscle weakness |
OMIM:162500 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Choreoathetosis, Hyperton... |
ORPHA:17 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Growth delay, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypoc... |
OMIM:264700 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis |
OMIM:300857 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Splenomegaly, Increased circulating fer... |
OMIM:619802 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Methylmalonic aciduria, Hyperhomocysti... |
OMIM:277410 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... |
ORPHA:30 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss, Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hy... |
ORPHA:90362 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Bruck Syndrome 2 |
|
Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hydroxyp... |
OMIM:609220 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia |
OMIM:619313 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension |
ORPHA:1192 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Postnatal growth retardation, Generalized aminoaciduria, Hypocalcemia, Hypophospha... |
ORPHA:289157 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Frequ... |
ORPHA:101097 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hepatomegaly, Growth delay, Hypoalbuminemia |
OMIM:226300 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:616867 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
Hyperaldosteronism, Familial, Type I |
|
Hypertension |
OMIM:103900 |
Congenital Enterovirus Infection |
|
Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure |
ORPHA:292 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Hypertonia, Ataxia |
ORPHA:79476 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno... |
ORPHA:280365 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Hyperkalemia |
OMIM:170500 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Short... |
OMIM:606071 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Increased urine succinate level, Intrahepatic cholestasis, Elevated ... |
OMIM:606812 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney... |
ORPHA:447 |
Werner Syndrome |
|
Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Elevated circulating aspartate amin... |
OMIM:277700 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Lacunar st... |
ORPHA:136 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Gait ataxia, Elevated urine acetoacetic acid leve... |
OMIM:620089 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Short stature, Hyperlipidemia, Obesity, Hyperkinetic movements |
ORPHA:289522 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Facial hy... |
ORPHA:404454 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation |
OMIM:173900 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension |
ORPHA:181 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Spasticity, Ataxia, Increased variability in muscle fiber diameter |
OMIM:125250 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ... |
ORPHA:158048 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... |
ORPHA:276241 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Liddle Syndrome 2 |
|
Hypertension |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Failure to thrive, Ketonuria, Large for gestational age |
OMIM:614520 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension |
OMIM:614495 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic... |
OMIM:619991 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Aciduria, Paralysis, ... |
OMIM:203700 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Elevated hepatic transaminase, Incoordination, Facial pa... |
ORPHA:297 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Obesity |
ORPHA:66628 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Apraxia, Hypertriglyceridemia, Short stature, Ataxia, He... |
ORPHA:77293 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Paraparesis, Hypercalcemia, Tetraparesis |
OMIM:602080 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Failure to thrive in infancy, Flexion contracture, Spastic paraplegia, Growth delay, Increased va... |
OMIM:619026 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Obesity |
ORPHA:179494 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Glutaric Aciduria Iii |
|
Hypertension |
OMIM:231690 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension |
ORPHA:251992 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension |
OMIM:201910 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Paralysis, Urinary retention, Respiratory paralysis, Hepatocellula... |
OMIM:176000 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Skeletal muscle atrophy, Vocal cord paresis, Intrinsic hand muscle atrophy, Gait ataxia, Distal a... |
OMIM:614895 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Myositis, Failure to thrive in infancy, Cachexia, Splenomegaly, Ab... |
ORPHA:37042 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Abnormality of body weight, Abnormal circulating fatty-acid concentration, Increased... |
ORPHA:2298 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... |
OMIM:618183 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension |
OMIM:166300 |
Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir... |
OMIM:107320 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Paralysis, Decreased urinary potassi... |
ORPHA:358 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Flexion contracture, H... |
ORPHA:505248 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Ataxia, Tr... |
OMIM:164310 |
Phacoanaphylactic Uveitis |
|
Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis, Abnormal... |
ORPHA:209959 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Tryptophanuria With Dwarfism |
|
Severe short stature, Ataxia, Tryptophanuria |
OMIM:276100 |
Riboflavin Transporter Deficiency |
|
Hypertension |
ORPHA:97229 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter, Ataxia, Gait ataxia |
OMIM:617915 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... |
ORPHA:90038 |
Nephronophthisis 18 |
|
Hypertension |
OMIM:615862 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Paralysis |
ORPHA:83601 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Hypospadias, Patent ductus arteriosus, Hypoalbuminem... |
ORPHA:79324 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular... |
OMIM:118450 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria |
ORPHA:2158 |
Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria |
OMIM:235830 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... |
ORPHA:276621 |
Hartnup Disease |
|
Abnormal urinary color, Short stature, Ataxia, Neutral hyperaminoaciduria |
ORPHA:2116 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... |
ORPHA:276244 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension |
OMIM:202110 |
H Syndrome |
|
Hypertriglyceridemia, Short stature, Abnormality of the kidney, Enlarged kidney, Hepatosplenomega... |
ORPHA:168569 |
Liddle Syndrome 1 |
|
Hypertension |
OMIM:177200 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Parkinsonism, Tremor, ... |
ORPHA:167 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:618061 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Netherton Syndrome |
|
Aminoaciduria, Short stature, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Recurrent urinary tract infections, Small for g... |
OMIM:613658 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:614096 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Hypoalbuminemia, Weight loss |
ORPHA:67 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati... |
OMIM:619534 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Obesity, Renal cyst, Hypercalciuri... |
ORPHA:369837 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Camptodacty... |
OMIM:235510 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... |
OMIM:619573 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal... |
ORPHA:2912 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... |
OMIM:255310 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ... |
OMIM:157640 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension |
OMIM:614496 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Spasticity, Paralysis |
ORPHA:803 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, H... |
ORPHA:340 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl... |
OMIM:619127 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Myopathy, Increased variability in muscle fiber diameter, Hepatomegaly |
OMIM:604377 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Growth delay, Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, I... |
ORPHA:565612 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Pancreatic fibrosis, Hep... |
OMIM:232220 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis |
ORPHA:494424 |
Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Cardiomyopathy |
OMIM:102200 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Short stature, Microscopic hematuria, Minimal change glomerulonephriti... |
ORPHA:1830 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... |
OMIM:616538 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Hyperlipidemia, Jaundice, Hypertonia |
ORPHA:79477 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Ataxia, Splenomegaly, Growth delay, Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Skeletal muscle atrophy, ... |
OMIM:256040 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Elevated circulating creatine kinase concentr... |
ORPHA:99826 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Polyminimyoclo... |
OMIM:619574 |
Foodborne Botulism |
|
Cerebral palsy, Urinary retention, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... |
ORPHA:29072 |
Ochoa Syndrome |
|
Hypertension |
ORPHA:2704 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Stiff Skin Syndrome |
|
Hypertension |
ORPHA:2833 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Heme Oxygenase 1 Deficiency |
|
Hypertension, Epistaxis, Diffuse alveolar hemorrhage |
OMIM:614034 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Renal hypoplasia, Growth dela... |
ORPHA:37553 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Short stature, Periodic paralysis, Hypokalemia, Periodic hypokalemic paresis |
OMIM:170390 |
Paroxysmal Hemicrania |
|
Hypertension |
ORPHA:157835 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomeru... |
ORPHA:534 |
Nephroblastoma |
|
Hypertension |
ORPHA:654 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypertonia, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepatic steatosis, Peno... |
OMIM:270400 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Failure to thrive, Hypoalbuminemia, Growth delay |
ORPHA:79396 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias |
OMIM:610644 |
Apparent Mineralocorticoid Excess |
|
Hypertension |
OMIM:218030 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Glucocorticoid Resistance, Generalized |
|
Hypertension |
OMIM:615962 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co... |
OMIM:613150 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Gaucher Disease, Type I |
|
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... |
OMIM:230800 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Small for gestational age, Clonus, Polyuria, Babinski sign, Dysmetria, Gait... |
OMIM:606721 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ... |
OMIM:616866 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Monosomy 18P |
|
Hypertension |
ORPHA:1598 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... |
OMIM:301500 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Clumsin... |
OMIM:211530 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension |
ORPHA:77296 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage |
OMIM:300845 |
Isovaleric Acidemia |
|
Hyperglycinuria |
OMIM:243500 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension |
OMIM:614492 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension |
OMIM:617763 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ... |
ORPHA:31150 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Palpitations, Epistaxis |
ORPHA:231580 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... |
ORPHA:183 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... |
ORPHA:637 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis |
OMIM:610205 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D... |
ORPHA:90363 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia |
ORPHA:525731 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita, Hepatic steatosis, Intr... |
ORPHA:254346 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased muscle mass, Vocal cord paralysis, Intrinsic hand muscle atrophy, Knee flexion contracture |
OMIM:615490 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, Short stature, Hypoalbuminemia, Cachexia |
ORPHA:79076 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Spas... |
OMIM:612949 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia, Abnormal intrahepatic... |
ORPHA:363618 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Epistaxis |
ORPHA:231632 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Paralysis, Paraparesis, Jaundice, Hepatitis, Hemiparesis, Hematuri... |
ORPHA:319251 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension |
OMIM:191830 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hepatocellular carcinoma, H... |
OMIM:232240 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension |
OMIM:615954 |
Diffuse Cutaneous Systemic Sclerosis |
|
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... |
ORPHA:220393 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension |
OMIM:613677 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Growth delay, Paralysis |
OMIM:242100 |
Inhalational Botulism |
|
Urinary retention, Paralysis |
ORPHA:254504 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction |
OMIM:208000 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Attention deficit hyperactivity dis... |
OMIM:620185 |
Werner Syndrome |
|
Hypertension, Telangiectasia of the skin, Congestive heart failure, Myocardial infarction |
ORPHA:902 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension |
OMIM:615830 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Renal neoplasm, Hypertriglyceridemia, Short stature, Delayed puberty, Ca... |
ORPHA:79474 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension |
ORPHA:2169 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Wide penis, Hypertonia, Vesicoureteral reflux, Dilatation of renal calices, Hepatic steat... |
ORPHA:3455 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
Coach Syndrome 1 |
|
Hypertension, Portal hypertension |
OMIM:216360 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Abnormal skeletal muscle morphology |
ORPHA:142 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Frasier Syndrome |
|
Hypertension |
ORPHA:347 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:215600 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Paralysis, Abnormality of the spleen, Splenomegaly, Spastic paraplegia, Limb ataxia, He... |
ORPHA:2072 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Schimke Immunoosseous Dysplasia |
|
Hypertension, Cerebral ischemia, Pulmonary arterial hypertension, Transient ischemic attack |
OMIM:242900 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension |
OMIM:615474 |
Xeroderma Pigmentosum |
|
Short stature, Ataxia, Aminoaciduria, Abnormality of extrapyramidal motor function, Spasticity, F... |
ORPHA:910 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Alagille Syndrome |
|
Hypertension, Telangiectasia of the skin |
ORPHA:52 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Bardet-Biedl Syndrome |
|
Hypertension |
ORPHA:110 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension |
OMIM:219080 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension |
OMIM:610475 |
X-Linked Intellectual Disability, Armfield Type |
|
Short stature, Patent ductus arteriosus, Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... |
ORPHA:31826 |
Alkaptonuria |
|
Nephrolithiasis, Aminoaciduria, Tendon rupture, Thickened Achilles tendon |
ORPHA:56 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension |
OMIM:619758 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Myocardial infarction |
OMIM:208060 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... |
OMIM:208050 |
Birk-Landau-Perez Syndrome |
|
Hypertension |
OMIM:617595 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Short stature, Hypospadias, Flexion contracture,... |
OMIM:264090 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Postnatal growth retardation, Hyperlipidemia, Flexion contracture, Elbo... |
OMIM:248370 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
Overlap Myositis |
|
Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension |
ORPHA:206572 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hypertension, Palpitations |
OMIM:171400 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Hypertension, Ischemic stroke |
ORPHA:542643 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Vocal cord paralysis, Poor... |
ORPHA:99956 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block |
ORPHA:371428 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Neurogenic bladder |
OMIM:619173 |
Nephronophthisis 1 |
|
Hypertension |
OMIM:256100 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Hypotension |
ORPHA:134 |
Porphyria Variegata |
|
Hypertension, Tachycardia |
ORPHA:79473 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Growth delay, Hyperlipidemia, Flexion contracture, Stage 5 chronic kidney disease |
OMIM:608612 |
Spondyloenchondrodysplasia |
|
Raynaud phenomenon, Hypertension, Vasculitis |
ORPHA:1855 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614052 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... |
ORPHA:94093 |
Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
Caudal Regression Syndrome |
|
Hypertension |
ORPHA:3027 |
Apparent Mineralocorticoid Excess |
|
Hypertension |
ORPHA:320 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension |
OMIM:256700 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Vocal cord paresis, Distal amyotrophy, Limb muscle weakness |
OMIM:601152 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension |
ORPHA:449291 |
Lead Poisoning |
|
Hypertension |
ORPHA:330015 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity |
ORPHA:2396 |
Adrenocortical Carcinoma |
|
Hypertension, Palpitations |
ORPHA:1501 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Abnormal central motor function, Involuntary movements, Urinar... |
ORPHA:3385 |
Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension |
OMIM:610489 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Vocal cord paralysis, Sclerosing cholangitis, Hypo... |
ORPHA:64744 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... |
ORPHA:91387 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Renal Hypoplasia, Bilateral |
|
Hypertension |
ORPHA:97362 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension |
OMIM:219090 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension |
ORPHA:98808 |
Wagro Syndrome |
|
Hypertension |
OMIM:612469 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Short stature, Delayed puberty |
ORPHA:90154 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Hypertension, Portal hypertension |
OMIM:263200 |
Pituitary Apoplexy |
|
Hypertension, Hypotension |
ORPHA:95613 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Spasticity, Vocal cord paralysis, Myoclonus |
ORPHA:500144 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Small for gestational age, Short stature, Vocal cord paralysis, Gr... |
OMIM:617799 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension |
OMIM:616914 |
Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
Degcags Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Small for gestational age, Hypospadias, Bilater... |
OMIM:619488 |
Charcot-Marie-Tooth Disease Type 4C |
|
Failure to thrive, Frequent falls, Gait ataxia, Distal amyotrophy, Tongue fasciculations, Head tr... |
ORPHA:99949 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Myoclonus, Gait ataxia |
ORPHA:70595 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
Hallermann-Streiff Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
Renal Hypoplasia |
|
Hypertension |
ORPHA:93101 |
Hurler Syndrome |
|
Cardiomyopathy, Hypertension, Angina pectoris |
ORPHA:93473 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati... |
ORPHA:64 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension |
ORPHA:69663 |
Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
Alexander Disease |
|
Hypotension, Hypertension, Sudden cardiac death |
ORPHA:58 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval |
OMIM:614947 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatitis, Weight loss, Hypo... |
OMIM:619381 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Abnormality of skeletal muscle fiber size, Congenital con... |
ORPHA:168572 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypotension |
ORPHA:93256 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Hypertension |
OMIM:615688 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613834 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension |
OMIM:613159 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension |
OMIM:123790 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Short stature |
ORPHA:90153 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis, Periodic hypokalemic paresis, Short stature, Hepatosplenomegaly |
OMIM:259730 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Urinary incontinence, Babinski sign, Vocal cor... |
ORPHA:268882 |
Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, Increased variability in muscle fiber diameter, Torticollis, Intrauterine growth re... |
OMIM:617022 |
Posterior Urethral Valve |
|
Hypertension |
ORPHA:93110 |
Acute Intermittent Porphyria |
|
Hypertension, Tachycardia |
ORPHA:79276 |
Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Aminoaciduria |
OMIM:609242 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hyperlipidemia, Obesity, Growth delay, Hepatic steatosis |
ORPHA:91 |
Renal Agenesis |
|
Hypertension |
ORPHA:411709 |
Alport Syndrome 1, X-Linked |
|
Hypertension |
OMIM:301050 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypertension |
OMIM:612780 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Cachexia, Splenomegaly, Myocardial calcification, Hypoalbuminemia |
ORPHA:75565 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Sickle Cell Disease |
|
Hypertension |
OMIM:603903 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Weight loss, Hypokalemia, Delayed puberty, Periodic hypokalemic paresis |
ORPHA:91347 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Hepatomegaly, Ataxia, Heparan sulfate excretion in urine, Splenomegaly, Flexi... |
ORPHA:581 |
Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction |
OMIM:602535 |
Prader-Willi Syndrome |
|
Hypertension |
ORPHA:739 |
Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyopathy |
OMIM:615846 |
Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis |
ORPHA:1358 |
Williams-Beuren Syndrome |
|
Flexion contracture, Vocal cord paralysis, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, P... |
OMIM:194050 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti... |
ORPHA:48435 |
Senior-Boichis Syndrome |
|
Hypertension, Portal hypertension |
ORPHA:84081 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension |
ORPHA:90793 |
Bardet-Biedl Syndrome 1 |
|
Hypertension |
OMIM:209900 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Alport Syndrome |
|
Hypertension |
ORPHA:63 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypertension, Mitral regurgitation |
OMIM:611962 |
Aspartylglucosaminuria |
|
Hepatomegaly, Aspartylglucosaminuria, Short stature, Macroglossia, Spasticity |
OMIM:208400 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Au-Kline Syndrome |
|
Hypertension |
OMIM:616580 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Multiple joint contractures, Ataxia, Abnormality of coordination, ... |
ORPHA:79318 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... |
OMIM:300166 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension |
ORPHA:79443 |
Von Hippel-Lindau Syndrome |
|
Hypertension |
OMIM:193300 |
Schinzel-Giedion Syndrome |
|
Failure to thrive in infancy, Nephroblastoma, Hypospadias, Vocal cord paralysis, Abnormality of t... |
ORPHA:798 |
Myhre Syndrome |
|
Hypertension |
ORPHA:2588 |
Blau Syndrome |
|
Hypertension, Pericarditis |
OMIM:186580 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypertension |
ORPHA:95699 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
Glossopharyngeal Neuralgia |
|
Vocal cord paralysis, Weight loss |
ORPHA:221098 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure |
OMIM:181270 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
Denys-Drash Syndrome |
|
Hypertension |
OMIM:194080 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Hypertensive crisis |
ORPHA:544482 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hypertension |
OMIM:266920 |
Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage |
ORPHA:139417 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur |
ORPHA:217085 |
Cockayne Syndrome B |
|
Hypertension, Arrhythmia |
OMIM:133540 |
Orofaciodigital Syndrome I |
|
Hypertension |
OMIM:311200 |
Cockayne Syndrome A |
|
Hypertension, Arrhythmia |
OMIM:216400 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypertension |
OMIM:202010 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur |
ORPHA:217093 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Xq21 Microdeletion Syndrome |
|
Hypertension |
ORPHA:1435 |
Arima Syndrome |
|
Hypertension |
OMIM:243910 |
Mucopolysaccharidosis Type 2 |
|
Cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:580 |
Orofaciodigital Syndrome Type 1 |
|
Hypertension |
ORPHA:2750 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypertension |
ORPHA:786 |
Myhre Syndrome |
|
Hypertension, Aortic valve stenosis |
OMIM:139210 |
Cranioectodermal Dysplasia 2 |
|
Hypertension |
OMIM:613610 |
Scalp-Ear-Nipple Syndrome |
|
Hypertension |
ORPHA:2036 |
Adams-Oliver Syndrome 1 |
|
Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:100300 |
Cockayne Syndrome |
|
Hypertension, Retinal hemorrhage |
ORPHA:191 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperkalemia, Obesity... |
ORPHA:293987 |
Feingold Syndrome 1 |
|
Accessory spleen, Asplenia, Patent ductus arteriosus, Vocal cord paralysis, Polysplenia, Annular ... |
OMIM:164280 |
Hardikar Syndrome |
|
Hematemesis, Hypertension, Portal hypertension |
OMIM:301068 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Homocystinuria |
OMIM:601552 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... |
ORPHA:391665 |
Aspartylglucosaminuria |
|
Splenomegaly, Macroglossia, Aspartylglucosaminuria, Hepatomegaly |
ORPHA:93 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Renovascular hypertension, Cardiomyopathy |
ORPHA:3472 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Flexion contracture of the 2nd finger, Unilateral vocal cord paralysis, Joint contracture of the ... |
ORPHA:324540 |
Esophageal Atresia |
|
Small for gestational age, Failure to thrive in infancy, Renal agenesis, Growth delay, Hypertonia... |
ORPHA:1199 |
Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Hypertension |
ORPHA:536 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypertension, Portal hypertension |
ORPHA:731 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Renovascular hypertension, Hypertension, Pulmonic stenosis, Pulmonary... |
ORPHA:97685 |
Acromegaly |
|
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
ORPHA:963 |
Somatomammotropinoma |
|
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
ORPHA:314769 |
Cushing Disease |
|
Hypertension, Capillary fragility, Myocardial infarction |
ORPHA:96253 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Growth delay, Choreoathetosis, Delayed puberty, Micropenis |
ORPHA:3464 |
Multiple Endocrine Neoplasia Type 2 |
|
Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
Williams Syndrome |
|
Sudden cardiac death, Myocardial infarction, Congestive heart failure, Renovascular hypertension,... |
ORPHA:904 |
Blau Syndrome |
|
Hypertension, Pericarditis, Pulmonary arterial hypertension, Large vessel vasculitis |
ORPHA:90340 |
Tuberous Sclerosis Complex |
|
Hypertension, Internal hemorrhage |
ORPHA:805 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia, Abnormality of extrapyramidal motor function, Micropenis |
OMIM:241080 |
Multiple Endocrine Neoplasia Type 1 |
|
Melena, Hypertension, Shortened QT interval, Hematemesis |
ORPHA:652 |
Neurofibromatosis, Type I |
|
Hypertension |
OMIM:162200 |
Van Esch-O'Driscoll Syndrome |
|
Short stature, Unilateral vocal cord paralysis, Growth delay, Intrauterine growth retardation, Sp... |
OMIM:301030 |
Bartter Syndrome Type 4 |
|
Hypertension |
ORPHA:89938 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:881 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis |
ORPHA:567 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
OMIM:220111 |
Renal Dysplasia |
|
Hypertension |
ORPHA:93108 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypertension |
OMIM:210710 |
Pineoblastoma |
|
Paralysis |
ORPHA:251909 |
Neurofibromatosis Type 1 |
|
Hypertension |
ORPHA:636 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Hypertension |
OMIM:300896 |
Keutel Syndrome |
|
Hypertension, Pulmonic stenosis |
OMIM:245150 |
Codas Syndrome |
|
Vocal cord paresis, Short stature |
OMIM:600373 |
Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli... |
ORPHA:51608 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypertension, Corneal neovascularization |
OMIM:308205 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertension, Hypertension, I... |
ORPHA:286 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Hypertension, Capillary fragility, Myocardial infarction |
ORPHA:99889 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hypertension |
OMIM:201750 |
Carney Complex |
|
Hypertension, Congestive heart failure |
ORPHA:1359 |