| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Hyperlysinemia, Cognitive impairment |
OMIM:238700 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... |
ORPHA:488650 |
| Neutral Lipid Storage Disease With Myopathy |
|
Exercise intolerance, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Short st... |
OMIM:610717 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... |
ORPHA:178464 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Distal amyotrophy, Impaired distal tactile sensation, Hepatic stea... |
OMIM:618400 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Elevated circulating creatine kinase concentration, Fatty ... |
ORPHA:266 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Elevated circulating cr... |
OMIM:619733 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased c... |
OMIM:253601 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, Ce... |
OMIM:620235 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Hepatic steatosis, Lipodystrophy, Elevated circulating creatine kinase c... |
OMIM:615980 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
| 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 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Short sta... |
OMIM:612526 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen... |
OMIM:300696 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Exercise intolerance, Skeletal muscle atrophy, Elevated hepatic transaminase, Elevated circulatin... |
OMIM:620138 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Elevated circulating creatine kinase conce... |
OMIM:620386 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Short stature, Distal amyotrophy, Type 1 muscle fiber predominance, Increased va... |
OMIM:619042 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Elevated circulating creatine kinase c... |
OMIM:616924 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Lipoatrophy, Myopathy, Arthralgia, Microscopic hematuria, Hepatic st... |
ORPHA:79087 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigue, Skeletal muscle atrophy, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, ... |
ORPHA:42 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Weakness of facial musculature, Fatty rep... |
OMIM:256030 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat... |
OMIM:616471 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Hepatomegaly, Hypertriglyceridemia,... |
ORPHA:2348 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Intrauterine gr... |
ORPHA:26792 |
| Myofibrillar Myopathy 11 |
|
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hy... |
OMIM:619178 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive... |
OMIM:608709 |
| Myopathy, Distal, Tateyama Type |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:614321 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Myalgi... |
ORPHA:171442 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:619473 |
| Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| 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 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea... |
OMIM:618129 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Childhood-Onset Nemaline Myopathy |
|
Exercise intolerance, Scapular winging, Flexion contracture, Increased muscle lipid content, Gene... |
ORPHA:171439 |
| Cerebral Creatine Deficiency Syndrome 3 |
|
Failure to thrive, Organic aciduria |
OMIM:612718 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypercholesterolemia, Hypertriglyceridemia, Hepatic steatosis, Obesity |
OMIM:615703 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Fatty replacement of sk... |
OMIM:255100 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Myopathy, Limb... |
OMIM:612937 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:613204 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hepatomega... |
ORPHA:435660 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Elevated circulating creatine kinase concentration, Increa... |
OMIM:614399 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, E... |
OMIM:619566 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Skeletal muscle hypertrophy, Hepatic steatosis |
OMIM:613877 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k... |
ORPHA:369 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Hypert... |
ORPHA:79083 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... |
ORPHA:264580 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... |
OMIM:619048 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating asp... |
OMIM:619386 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... |
OMIM:300718 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Ataxia, Failure to thrive in infancy, Increased intramyocellular lipid droplets, I... |
OMIM:619065 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
| 3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Hypospadias, Sudden cardiac death, Elevated circulating aspartate aminotransferase concen... |
OMIM:610198 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Attent... |
OMIM:261600 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Aggressive behavior |
ORPHA:2382 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Shoulder flexion co... |
OMIM:617114 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Failure to thrive, Aciduria, Calcium oxalate nephro... |
ORPHA:416 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, A... |
ORPHA:86812 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase... |
OMIM:258450 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... |
OMIM:615516 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Increased connective tissue |
ORPHA:238329 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Imp... |
ORPHA:71 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| 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 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Chorea, Myopathy, Abnormal circulating creatine kina... |
ORPHA:369840 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Weakness of facial musculature, Centrally nucleated skeletal muscle fi... |
OMIM:618484 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology... |
ORPHA:75840 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Exercise intolerance, Elevated circulating aspartate aminotransferase concentration, Aciduria, El... |
OMIM:617950 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... |
OMIM:620265 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Short stature, Increased connective tissue, Scarring alopecia of scalp, Mothe... |
OMIM:226670 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... |
OMIM:608807 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal ... |
ORPHA:52430 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf mu... |
OMIM:613157 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... |
OMIM:620249 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... |
OMIM:603689 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter... |
ORPHA:1878 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Increased connectiv... |
OMIM:616852 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Elevated circulating cre... |
OMIM:611615 |
| Cholestasis-Lymphedema Syndrome |
|
Fatigue, Hepatomegaly, Portal hypertension, Abdominal pain, Splenomegaly, Hyperlipidemia, Jaundic... |
ORPHA:1414 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
| Myopathic Ehlers-Danlos Syndrome |
|
Exercise intolerance, Congenital muscular torticollis, Decreased muscle mass, Multiple joint cont... |
ORPHA:536516 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Exercise intolerance, Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia,... |
OMIM:619013 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Exercise intolerance, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Lipodyst... |
OMIM:613327 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Exercise intolerance, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine ... |
ORPHA:228305 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulatin... |
OMIM:278000 |
| Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive,... |
ORPHA:79303 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Skeletal muscle hypertrop... |
ORPHA:528 |
| Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Short stature, Facial palsy, Centrally nucleated skelet... |
OMIM:602771 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... |
ORPHA:353 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Short stature, Failure... |
ORPHA:300536 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:151660 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... |
OMIM:255320 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Hepatic failure, Failure to thrive, ... |
OMIM:617872 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... |
OMIM:618138 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:604367 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:212140 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... |
OMIM:615381 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Centrally nucleated skeletal muscle fibers, Chorea, Increased variability in muscle fiber... |
ORPHA:401768 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... |
OMIM:619790 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... |
ORPHA:98908 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... |
OMIM:264470 |
| Wilson Disease |
|
Back pain, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaun... |
ORPHA:905 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Short stature, Microno... |
ORPHA:98907 |
| Glycogen Storage Disease Vii |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Exercise-induced myoglo... |
OMIM:232800 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Proportionate short ... |
ORPHA:71212 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle... |
OMIM:254090 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creati... |
OMIM:201475 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:613954 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Short stature, Increased variability in muscle fiber diameter, Dysme... |
ORPHA:502423 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Chorea, Decreased liver function, Failure to thrive, Hepatic steatosis |
ORPHA:70472 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Short stature, Dysmetria, Limb ataxia... |
OMIM:617675 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... |
OMIM:617228 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
ORPHA:280365 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylgluta... |
OMIM:604273 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
| Hemochromatosis, Type 4 |
|
Fatigue, Hepatomegaly, Arthralgia, Cirrhosis, Hepatic steatosis |
OMIM:606069 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Ketonuria, Elevated circulating alanine aminotransferase concentration, R... |
OMIM:261680 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Lipoatrophy, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Elevated circulating aspartate... |
OMIM:300555 |
| Rotor Syndrome |
|
Bilirubinuria, Jaundice, Intermittent jaundice, Porphyrinuria, Storage in hepatocytes |
ORPHA:3111 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Renal steatosis |
OMIM:261650 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Renal hypoplasia, Obesity, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, E... |
OMIM:617072 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy, Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter, Enamel hypoplasia, Ataxia, Gait ataxia |
OMIM:617915 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Skeletal muscle steatosis, Renal tubular dy... |
ORPHA:436271 |
| Congenital Disorder Of Glycosylation, Type It |
|
Fatigue, Exercise intolerance, Hepatomegaly, Elevated hepatic transaminase, Short stature, Elevat... |
OMIM:614921 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Failure to t... |
ORPHA:2089 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Failure to thrive, Elevated circulating as... |
ORPHA:2088 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Hepatic steatosis |
ORPHA:79085 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased muscle mass, Cachexia, Abdominal pain, Ragged-red muscle... |
ORPHA:298 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:79322 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunc... |
OMIM:220110 |
| Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Lacticaciduria, Alaninuria, Decreased liver function, Hyperglutami... |
OMIM:616299 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Hyp... |
ORPHA:247585 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis |
OMIM:615238 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Limb-girdle muscle w... |
ORPHA:79240 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior |
OMIM:612716 |
| Optic Atrophy 11 |
|
Ataxia, Short stature, Splenomegaly, Dysmetria, Facial diplegia, Athetosis, Increased variability... |
OMIM:617302 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... |
ORPHA:94093 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Chorea, Athetosis |
OMIM:617235 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... |
OMIM:616812 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Acute pancreatiti... |
ORPHA:79086 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated creatine ki... |
ORPHA:99901 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Bone pain, Nephrocalcinosis,... |
OMIM:259900 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... |
OMIM:255310 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ... |
OMIM:256810 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase concentration, Elevated ... |
OMIM:245400 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Ataxia, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Proteinuria, Abnormal subcutaneous fat tissu... |
OMIM:212065 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Lacticaciduria, Distal amyotrophy, Weakness of facial musculature, Failure t... |
OMIM:618811 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Organic aciduria, Generalized amyotrophy, Limb muscle weakness |
OMIM:614707 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula... |
ORPHA:293964 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Elevated hepatic t... |
ORPHA:26791 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls... |
ORPHA:209902 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:614096 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Abdo... |
ORPHA:567983 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Scarring, Hepatocellular carcinoma, Portal inflam... |
ORPHA:101330 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentra... |
OMIM:605814 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
| Congenital Myopathy 22A, Classic |
|
Fatigue, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles ... |
OMIM:620351 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Increased urinary copper concentration, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Growth delay, Increased variability in muscle fiber diameter, Flexion contracture, Failure to thr... |
OMIM:619026 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Obesity |
OMIM:620195 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Recurrent urinary tract infecti... |
OMIM:619487 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Organic aciduria |
OMIM:614741 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elevated circulating... |
OMIM:614300 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Ataxia, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Achilles ... |
OMIM:616263 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated hepatic transa... |
OMIM:608836 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
| Adrenomyodystrophy |
|
Short stature, Megacystis, Myopathy, Abnormality of the urinary system, Failure to thrive, Hepati... |
ORPHA:977 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir... |
ORPHA:119 |
| Wilson Disease |
|
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Elevated circulating aspar... |
OMIM:277900 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
| Abetalipoproteinemia |
|
Impaired vibratory sensation, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Ata... |
ORPHA:14 |
| 19P13.12 Microdeletion Syndrome |
|
Hypospadias, Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita, Hepatic steatosis, Intr... |
ORPHA:254346 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Multiple lipomas, Hepatic steatosis, Penile freckling |
ORPHA:210548 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Inguinal hernia, Methioninuria, Failure to thrive, Homocystinuria, Pancreatitis |
OMIM:236200 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Typical Nemaline Myopathy |
|
Facial palsy, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Fl... |
ORPHA:171436 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Growth delay, Myoglobinuria, ... |
OMIM:231530 |
| Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
| D-Glyceric Aciduria |
|
Chorea, Hyperglycinuria, Increased circulating free fatty acid level |
ORPHA:941 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... |
OMIM:255125 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypospadias, Ragged-red mus... |
ORPHA:17 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Gracile Syndrome |
|
Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron concentration, Intrauterine... |
ORPHA:53693 |
| Glycogen Storage Disease Xii |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Splenomegaly, Ja... |
OMIM:611881 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Limb hypertonia |
OMIM:615918 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, ... |
OMIM:203800 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... |
OMIM:610042 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Intrauterine growth retardation |
OMIM:619003 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Cognitive impairment, Attention defi... |
ORPHA:43 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Multiple joint contractures, Ataxia, Chorea, Generali... |
ORPHA:506 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:212138 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cholangitis, Micro... |
OMIM:124000 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... |
OMIM:617093 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
| Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... |
OMIM:606070 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Distal amyotrophy, Lacticaciduria, Limb hypertonia |
OMIM:618247 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level, Failure to th... |
OMIM:210200 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia |
ORPHA:199299 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Ele... |
OMIM:227810 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Myopathy... |
OMIM:614922 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Chronic fatigue, Glome... |
ORPHA:2137 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Tendon xanthomatosis, Renal steatosis, Ob... |
ORPHA:412 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:615356 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... |
OMIM:619418 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypospadias... |
ORPHA:2959 |
| Chanarin-Dorfman Syndrome |
|
Myopathy, Ataxia, Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
| Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria |
ORPHA:79246 |
| Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Failure to t... |
ORPHA:275761 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... |
OMIM:608594 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... |
ORPHA:95409 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Limb-girdle muscle w... |
OMIM:251900 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Impaired distal proprioception, Ragg... |
OMIM:157640 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Anorexia |
ORPHA:361 |
| Propionic Acidemia |
|
Hepatomegaly, Organic aciduria |
ORPHA:35 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric acid... |
OMIM:246450 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Confusion, Addictive alcohol use, Hypocalcemia |
ORPHA:31826 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Increased urinary glycerol, Ketonu... |
ORPHA:247598 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria |
OMIM:617184 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Episodic ... |
ORPHA:444490 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Choreoathetosis, Nephrocalcinosis... |
ORPHA:445038 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... |
OMIM:619355 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Rhizomelia, Flexion contracture, Choreoathetosis, Growth delay, 3-Methylglutaconic acidur... |
OMIM:616271 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Failure to thrive in infancy |
ORPHA:6 |
| Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Ataxia, Hypercapnia, Elevated circulating creatine kinase conc... |
OMIM:164310 |
| Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... |
OMIM:300972 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Proteinuria, Short stature, Hyperlipidemia... |
ORPHA:79259 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Renal tubular acidosis, Organic aciduria, Nonprogressive cerebellar ataxia, Fail... |
ORPHA:431361 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal tempe... |
ORPHA:449291 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... |
OMIM:269700 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Microvesicular hepatic steatosis, Per... |
ORPHA:66634 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Short stature, Elevated circulating crea... |
OMIM:619743 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia, Hypokalemia |
ORPHA:403 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
| Mercury Poisoning |
|
Hypokalemia, Confusion, Anorexia |
ORPHA:330021 |
| East Syndrome |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia |
ORPHA:199343 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Lacticaciduria, Hyperglycin... |
OMIM:605711 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Anorexia |
OMIM:611590 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My... |
OMIM:123320 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Skeletal muscle atrophy, 3-hydroxydicarboxylic aciduria, Cyanosis, Ataxia, ... |
OMIM:252010 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Severe short stature, Elevated circulating aspartate am... |
OMIM:617253 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria |
OMIM:619063 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Ataxia, Proteinuria, Pancreatic... |
ORPHA:699 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Ataxia, Abnormality of Krebs cycle me... |
ORPHA:255210 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
| Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Ataxia, Short stature, Abnormality of Krebs cycle metabolism, Abnormal u... |
ORPHA:31 |
| Arthrogryposis Multiplex Congenita 6 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Hypospadias, Increased variability in muscle... |
OMIM:619334 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Abdomina... |
OMIM:229600 |
| Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Failure to thrive, Ketonuria, Abnormality of circulating enzyme level |
ORPHA:35706 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Exercise intolerance, Rigors, Failure to thrive in infancy, Rhabdomyolysis, Cholestasis, Skeletal... |
ORPHA:746 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, El... |
OMIM:251100 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Fatigue, Exercise intolerance, Lacticaciduria, Stage 5 chronic kidney disease, Exercise-induced m... |
OMIM:618250 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia |
OMIM:175500 |
| Cystinosis |
|
Hypokalemia, Polydipsia, Abnormal repetitive mannerisms, Hypophosphatemia |
ORPHA:213 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Abdominal pain, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Ch... |
OMIM:619377 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Large for gestational age, Multiple pancreatic beta-cell adenomas, Increased circulati... |
ORPHA:79644 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, 4-hydroxyphenylacetic aciduri... |
OMIM:617156 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Diaphragmatic eventration, Spinal muscular atrophy, Flexion contracture, Increased variability in... |
OMIM:616866 |
| Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Nemaline bodies, Abnormality of skeletal muscle fiber size, Increased en... |
OMIM:620278 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fatigue, Hepatomegaly, Elevated hepatic transaminase, Ketonuria, Ataxia, Acute pancreatitis, Jaun... |
ORPHA:20 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Gro... |
ORPHA:541423 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Small for gestation... |
ORPHA:26793 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Arima Syndrome |
|
Hepatomegaly, Ataxia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth de... |
OMIM:243910 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Ataxia, Lacticaciduria, Left ventricular noncompaction, Left ventricular... |
OMIM:619167 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Ataxia, Ac... |
OMIM:203700 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax... |
ORPHA:70595 |
| Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Ataxia, Microvesicular hepatic steatosis, Chorea, Cholelithiasis |
OMIM:619273 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Exercise intolerance, Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepati... |
OMIM:611126 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter, Hepatomegaly |
OMIM:604377 |
| Addison Disease |
|
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... |
ORPHA:85138 |
| Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Organic aciduria, Ataxia, Obesity |
OMIM:620191 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Macroglossia, Nephrotic syndrome, F... |
OMIM:617303 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H... |
ORPHA:466650 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Fai... |
OMIM:251110 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Jaundice, Lacticaciduria, Elevated urine aceto... |
OMIM:615751 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis, Ketonuria, Small for gestational age, Glycosuria |
OMIM:618857 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ragged-red muscle fi... |
OMIM:614924 |
| Holocarboxylase Synthetase Deficiency |
|
Growth delay, Organic aciduria, Ataxia, Weight loss |
ORPHA:79242 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Hemorrhagic Fever-Renal Syndrome |
|
Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation |
ORPHA:340 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Gait ataxia, Elevated urine acetoacetic acid level, 3-Methylglut... |
OMIM:620089 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Chorea, Failure to thrive |
OMIM:616672 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypokalemia |
ORPHA:251274 |
| Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Postnatal gr... |
OMIM:210900 |
| 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 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... |
OMIM:261515 |
| Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Glutaric aciduria, Choreoathetosis, Failure to thrive |
OMIM:231670 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Limb joint contracture, Small for ... |
ORPHA:404454 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Compuls... |
ORPHA:293987 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circula... |
OMIM:619424 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Hyperlipidemia, Bone pain, Obesity, Growth delay, Hepatic steatosis |
ORPHA:91 |
| Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Renal fibrosis, Decreased glomerular filtration rate, Hepatomegaly,... |
ORPHA:470 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Ataxia, Acute rhabdomyolysis, Elevated circulating crea... |
OMIM:616878 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Ketonuria, Hyperglycinuria, Organic aciduria, Failure to thrive |
OMIM:210210 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... |
OMIM:557000 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Aminoaciduria, Umbilical hernia, Failure to thrive |
OMIM:614520 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypokalemia, Cognitive impairment, Hypophosphatemia, Polydipsia |
ORPHA:411629 |
| Richards-Rundle Syndrome |
|
Distal amyotrophy, Ketonuria, Ataxia |
ORPHA:1399 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul... |
OMIM:618329 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hepatic steatosis |
ORPHA:348 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Ataxia, Abnormality of the upper urinary tract, Weight loss, Renal ... |
ORPHA:99885 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Exercise intolerance, Elevated hepatic transaminase, Inguinal hernia, Recurrent urinary tract inf... |
OMIM:613658 |
| Helix Syndrome |
|
Hypokalemia, Polydipsia, Hypermagnesemia |
OMIM:617671 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Short stature, Po... |
OMIM:619127 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia |
OMIM:612780 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Ketonuria, Methylmalonic aciduria |
OMIM:251120 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Renal neoplasm, Hypertriglyceridemia, Lipoatrophy, Short stature, Failur... |
ORPHA:79474 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
| Monosomy 13Q34 |
|
Growth delay, Fetal pyelectasis, Hepatic steatosis, Obesity |
ORPHA:96168 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... |
OMIM:619573 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Ketonuria, Ataxia, Acute rhabdomyolysis, Elevated circulating crea... |
ORPHA:480864 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Diaminoaciduria,... |
OMIM:207800 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Abnormality of skeletal muscle fiber size, Congenital con... |
ORPHA:168572 |
| Wiedemann-Rautenstrauch Syndrome |
|
Wide penis, Vesicoureteral reflux, Dilatation of renal calices, Hepatic steatosis, Loss of facial... |
ORPHA:3455 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Growth delay, Failure to thrive |
OMIM:615453 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hypoplasia, H... |
OMIM:619991 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co... |
OMIM:613150 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Inc... |
OMIM:616503 |
| Amish Lethal Microcephaly |
|
Hepatomegaly, Organic aciduria, Limb hypertonia |
ORPHA:99742 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Ataxia, Weight loss, Body odor |
ORPHA:134 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Hypokalemia |
ORPHA:369929 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Failure to thrive, Ataxia, Elevated circulating aspartate aminotransferase concentr... |
OMIM:207900 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Macroglossia, Increased variability in muscle fiber diameter, Intrauter... |
OMIM:617022 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Hypospadias, Rena... |
OMIM:270400 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... |
OMIM:619525 |
| Myasthenic Syndrome, Congenital, 19 |
|
Exercise intolerance, Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Fatigue, Torticollis, Elevated hepatic transaminase, Ataxia, Hypospadias, Abdominal pa... |
OMIM:619475 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Elevated circulating creatine... |
OMIM:616538 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Renal hypoplasia |
OMIM:619053 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria, Ataxia, Short stature |
ORPHA:23 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hip contracture, Hepatomegaly, Bilateral fetal pyelectasis, Large f... |
OMIM:300868 |
| D-Lactic Aciduria With Gout |
|
Inguinal hernia, Lacticaciduria |
OMIM:245450 |
| Biotinidase Deficiency |
|
Splenomegaly, Hepatomegaly, Organic aciduria, Ataxia |
OMIM:253260 |
| Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Hepatomegaly, Failure to thrive, Short stature, Splenomegaly, Stage 5 ch... |
OMIM:222700 |
| Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
| Gitelman Syndrome |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia |
OMIM:263800 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Ataxia, Elevated circulating aspartate aminotransferase concentration, Abdomin... |
OMIM:311250 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Nephrotic syndrome, Intrauterine growth retar... |
OMIM:615846 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hep... |
ORPHA:415 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Intrauterine growth retardation, Urinary incontinence, Hepatic steatosis, Joint contracture of th... |
OMIM:619934 |
| Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Oroticaciduria, Cirrhosis, Failure to thrive |
OMIM:215700 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Hemolytic-uremic syndrome, Jaundice, Meth... |
ORPHA:79282 |
| Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria |
OMIM:253270 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr... |
ORPHA:99413 |
| Turner Syndrome |
|
Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr... |
ORPHA:99228 |
| Monosomy X |
|
Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr... |
ORPHA:99226 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Ataxia, Lacticaciduria, Growth delay, Failure to thrive |
ORPHA:3008 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Hypomagnesemia, Re... |
OMIM:219800 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia |
OMIM:602522 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Ketonuria, Ataxia, Hypospadias, Small for gestational age, Microvesicular hepati... |
OMIM:220111 |
| Scorpion Envenomation |
|
Pain, Acute pancreatitis, Ketonuria, Ataxia, Elevated circulating aspartate aminotransferase conc... |
ORPHA:466677 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Short statu... |
ORPHA:1606 |
| Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria |
ORPHA:30 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Inguinal hernia, Torticollis, Short stature, Postnatal growth retardat... |
OMIM:300855 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati... |
ORPHA:64 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level |
OMIM:607364 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Diaphragmatic eventration,... |
OMIM:619503 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Flexion contracture, Renal hypoplasia, Abdominal obesity, Intrauterine growth reta... |
OMIM:619321 |
| Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
| Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Tendon xanthomatosis, Hyperlipidemia, Renal steatosis, Abnormal tendon morp... |
ORPHA:391665 |
| Biotinidase Deficiency |
|
Limb muscle weakness, Organic aciduria, Ataxia |
ORPHA:79241 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia |
OMIM:219090 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypophosphatemia, Self-injurious behavior, Hypokalemia, Compulsive b... |
ORPHA:534 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia, Hypokalemia, Increased C-peptide level |
ORPHA:769 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Fail... |
OMIM:618278 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Adrenocortical Carcinoma |
|
Hypokalemia |
ORPHA:1501 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aggressive behavio... |
ORPHA:99826 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
| X-Linked Intellectual Disability, Armfield Type |
|
Inguinal hernia, Short stature, Aminoaciduria, Galactosuria, Organic aciduria |
ORPHA:85276 |
| Digeorge Syndrome |
|
Renal dysplasia, Inguinal hernia, Renal insufficiency, Femoral hernia, Cholelithiasis, Unilateral... |
OMIM:188400 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
| Gitelman Syndrome |
|
Salt craving, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Polydipsia |
ORPHA:358 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
| Vipoma |
|
Hypokalemia, Hypercalcemia, Anorexia |
ORPHA:97282 |
| Distal Renal Tubular Acidosis |
|
Polydipsia, Hypokalemia |
ORPHA:18 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Proximal Renal Tubular Acidosis |
|
Hypokalemia, Polydipsia, Bicarbonaturia |
ORPHA:47159 |
| Nelson Syndrome |
|
Hypokalemia |
ORPHA:199244 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia |
ORPHA:786 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia |
ORPHA:91347 |
| Leprechaunism |
|
Hypokalemia, Increased circulating renin level |
ORPHA:508 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia, Cognitive impairment |
ORPHA:286 |
