Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated urinary uridine level |
OMIM:618477 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Elevated ci... |
OMIM:616199 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Ragged-red ... |
ORPHA:611 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Elevated circulati... |
OMIM:605820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... |
OMIM:618848 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia, Class III obesity |
OMIM:616418 |
Myopathy, Distal, 5 |
|
Muscle fiber splitting, Mildly elevated creatine kinase, Weakness of facial musculature, Myopathy... |
OMIM:617030 |
2P21 Microdeletion Syndrome |
|
Cystinuria, Failure to thrive, Hypoglycemia, Hypocalcemia, Nephrolithiasis |
ORPHA:163693 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Centrally nucleated skeletal musc... |
OMIM:620138 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Failure to thrive, Diabetes mel... |
OMIM:613845 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... |
OMIM:161900 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles, Mildly elevated creatine kinase |
OMIM:604454 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle muscle weakness, F... |
OMIM:609115 |
Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Type II diabetes mellitus, EMG: myopathic abnormalities, El... |
OMIM:500002 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Cystinuria, Neonatal hypoglycemia, Failure to thrive, Nephrolithiasis, Hypo... |
OMIM:606407 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... |
OMIM:620085 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... |
OMIM:618940 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Renal insufficiency, Lower limb muscle weakness, Abnormality of jaw muscles, H... |
ORPHA:99845 |
Glycogen Storage Disease Ixd |
|
Lower limb muscle weakness, Exercise-induced myoglobinuria, Glycogen accumulation in muscle fiber... |
OMIM:300559 |
Refractory Celiac Disease |
|
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... |
ORPHA:398063 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Foot dorsiflexor weakness, Ankle flexion contracture, Elevated circulating creatine... |
OMIM:615883 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Eleva... |
OMIM:615424 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Eleva... |
OMIM:609524 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
ORPHA:266 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anemia, Hypokalemia, Cachexia, Nail dysplasia, Hyperpigmentation of the skin, Hypocalce... |
OMIM:175500 |
Distal Myopathy With Anterior Tibial Onset |
|
Abnormal circulating creatine kinase concentration, Tibialis muscle weakness, Limb-girdle muscle ... |
ORPHA:178400 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Failure to thrive, Hypoglycemia, Elevated circulating creatinine c... |
OMIM:617872 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... |
OMIM:613204 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Facial palsy, Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circula... |
OMIM:616209 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Obesity, Hypocalcemia, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Ele... |
OMIM:179800 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Elevated circulating creatine kinase concentration, Muscle fiber cyt... |
OMIM:609200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:254110 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Weakness of facial mu... |
ORPHA:457050 |
Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Failure to thrive, Polyuri... |
OMIM:616963 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Ca... |
ORPHA:94090 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Acute kidney injury, Abnormality of the kid... |
ORPHA:275555 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... |
OMIM:253601 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
ORPHA:488650 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration |
OMIM:609500 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... |
OMIM:181400 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
ORPHA:399058 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300717 |
Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... |
ORPHA:1878 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Myopathy, R... |
ORPHA:270 |
Iminoglycinuria |
|
Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria |
ORPHA:42062 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... |
OMIM:300696 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Proximal tubulopathy,... |
ORPHA:411634 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Chro... |
ORPHA:94088 |
Iminoglycinuria |
|
Prolinuria, Hyperglycinuria, Hydroxyprolinuria |
OMIM:242600 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... |
OMIM:616471 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... |
OMIM:608423 |
Congenital Myopathy 14 |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
OMIM:618414 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... |
OMIM:611615 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Abnormal circulating creatine kinase concentration, Distal lower limb amyotrophy, Lower limb musc... |
OMIM:620068 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... |
OMIM:160565 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Blue urine, Recurrent hypoglycemia, Hypercalcemia, Nephrocalcinosis, Increased... |
ORPHA:94086 |
Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
Saccharopinuria |
|
Hyperlysinuria, Histidinuria, Elevated circulating sacchoropine concentration, Saccharopinuria, C... |
OMIM:268700 |
Hyperprolinemia, Type Ii |
|
Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria |
OMIM:239510 |
Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Myopathy, Centra... |
OMIM:618992 |
Nemaline Myopathy 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... |
OMIM:256030 |
Hyper-Beta-Alaninemia |
|
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine |
OMIM:237400 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, Muscular dystrophy, ... |
OMIM:254130 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia, Failu... |
ORPHA:6 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Chondrocalcinosis, Hypomagnesemia |
OMIM:154020 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612926 |
Vacuolar Neuromyopathy |
|
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... |
OMIM:601846 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... |
OMIM:300718 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612924 |
Mitochondrial Myopathy, Infantile, Transient |
|
Decreased plasma carnitine, Macroglossia, Elevated circulating creatine kinase concentration, Fai... |
OMIM:500009 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Hypoprotein... |
ORPHA:90362 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... |
OMIM:619566 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... |
OMIM:616924 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Increased intramuscular fat, Elevated circulating creatine kinase c... |
ORPHA:276435 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... |
OMIM:612937 |
Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... |
OMIM:614723 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... |
OMIM:615605 |
Familial Isolated Hypoparathyroidism |
|
Nephropathy, Hypocalcemia, Myopathy |
ORPHA:2238 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria |
ORPHA:419 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... |
OMIM:619042 |
Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... |
OMIM:617760 |
Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Abnormal renal corticomedullary differentiation, Renal dysplasia, Small for ... |
OMIM:616733 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... |
OMIM:619473 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
Glucoglycinuria |
|
Glycosuria, Hyperglycinuria |
OMIM:138070 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia |
ORPHA:172 |
Orthostatic Hypotension 1 |
|
Nocturia, Neonatal hypoglycemia, Increased blood urea nitrogen, Weakness of facial musculature, H... |
OMIM:223360 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Elevated circulating creatine kinase concentration, Weakness of facial musculature, Skeletal musc... |
OMIM:617069 |
Hypercalcemia, Infantile, 1 |
|
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Nephrocalcin... |
OMIM:143880 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Limb-girdle muscle weakness, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Mac... |
ORPHA:352479 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Myofibrillar myopathy, Increased variability in muscle fiber diameter, Ca... |
OMIM:603689 |
Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy, Elevat... |
ORPHA:309169 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Increased variability in muscle fiber diameter, Failure to thrive, Increased ... |
OMIM:613752 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Zebra Body Myopathy |
|
Muscle fiber splitting, Autophagic vacuoles, Torticollis, Elevated circulating creatine kinase co... |
ORPHA:97240 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Renal tubular dysfu... |
OMIM:606528 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
C3 Glomerulopathy |
|
Mesangial hypercellularity, Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute... |
ORPHA:329918 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... |
OMIM:619468 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Mildly elevated cr... |
OMIM:160150 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Colchicine Poisoning |
|
Alopecia, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatr... |
ORPHA:31824 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of finger, Aminoaciduria, Camptodactyly of toe, Increased urinary taurine |
ORPHA:1325 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Elbow flexion contracture, Renal agenesis, Macroglossia, Mucopolysacch... |
OMIM:618440 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... |
ORPHA:119 |
Myopathy, Centronuclear, 4 |
|
Abnormal circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, T... |
OMIM:614807 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Failure to thrive, Hypercalcemia, Nephrocalcinosis, Hypercalciuria |
OMIM:239199 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Muscular dystrophy, Elevated... |
OMIM:613530 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... |
OMIM:300539 |
Oculopharyngodistal Myopathy 4 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
OMIM:619790 |
Dibasic Amino Aciduria I |
|
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria |
OMIM:222690 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... |
OMIM:614399 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia |
ORPHA:147 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... |
OMIM:618138 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, EMG: myopathic abno... |
OMIM:608358 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Alopecia, Decreased prealbumin level, Neutropenia in presence of an... |
ORPHA:37042 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Elev... |
OMIM:613157 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... |
OMIM:603511 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre... |
OMIM:619743 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Urinary in... |
OMIM:617114 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Increased serum pyruvate |
ORPHA:238329 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia, Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia |
OMIM:211000 |
Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... |
OMIM:616852 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Carnosinuria, Elevated circulating creatine kinase concentration |
OMIM:309930 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Muscle fiber atro... |
ORPHA:228302 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Mildly elevated ... |
OMIM:610099 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
OMIM:618484 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers, Increased serum pyruvate |
OMIM:545000 |
Gracile Syndrome |
|
Aminoaciduria, Increased serum pyruvate, Increased circulating ferritin concentration, Increased ... |
OMIM:603358 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Generalized amyotrophy, EMG: myopathic abnormalities, Facial diplegia, Elevated ci... |
OMIM:609560 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... |
ORPHA:35878 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Myopathy, Frontalis m... |
OMIM:300580 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:611705 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Acute kidney injury, Exercise-ind... |
ORPHA:57 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Multiminicore Myopathy |
|
Congenital muscular dystrophy, Abnormal muscle fiber morphology, Failure to thrive, Myopathy, Min... |
ORPHA:598 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... |
ORPHA:231111 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Rhabdomyolysis, EMG: myopathic abnormalities, Elevated circulating c... |
ORPHA:424107 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hy... |
OMIM:612462 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... |
ORPHA:26793 |
Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Increased muscle lipid conte... |
ORPHA:171439 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine concentration, Focal segm... |
OMIM:617056 |
East Syndrome |
|
Hypokalemia, Hypomagnesemia, Increased circulating renin level |
ORPHA:199343 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... |
ORPHA:353 |
Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... |
OMIM:608810 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Neutropenia, Partial albinism |
ORPHA:90023 |
Galactosemia Iii |
|
Failure to thrive, Aminoaciduria, Hypergalactosemia, Galactosuria |
OMIM:230350 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... |
OMIM:123550 |
Glycogen Storage Disease V |
|
Hyperuricemia, Rhabdomyolysis, Exercise-induced rhabdomyolysis, Elevated circulating creatine kin... |
OMIM:232600 |
Uremic Pruritus |
|
Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Re... |
ORPHA:94059 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Lower limb muscle weakness, Failure to thrive, Hypoglycemia, Aciduria |
OMIM:617950 |
Medullary Sponge Kidney |
|
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis |
ORPHA:1309 |
Distal Myotilinopathy |
|
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Elevat... |
ORPHA:98911 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections |
ORPHA:284400 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Increased serum pyruvate |
OMIM:300816 |
Ring Chromosome 10 Syndrome |
|
Renal hypoplasia/aplasia, Hypocalcemia, Cachexia |
ORPHA:1438 |
Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... |
OMIM:220100 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... |
ORPHA:79233 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in... |
OMIM:232700 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kin... |
ORPHA:263494 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... |
ORPHA:75840 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Multiple lipomas, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine ... |
OMIM:617070 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Hyperca... |
ORPHA:251004 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... |
ORPHA:94093 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance, Elevated circulating creatine ... |
ORPHA:972 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyotrophy, Elevated circu... |
OMIM:167320 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:437572 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Glomerulonephritis, Reversible renal failure, Acut... |
OMIM:607665 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... |
OMIM:613954 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Hyperphosphaturia |
ORPHA:89937 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Small for g... |
ORPHA:2260 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Hyperphosphatemia, Irregular hyperpigmentation, Abnormality of the nail, Abnormal finge... |
ORPHA:428 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcium nephrolithiasis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:36913 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... |
ORPHA:1578 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Elevated circulating ... |
OMIM:310440 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy, Aminoaciduria |
OMIM:204730 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Insulin resistance, Nocturia, Elevated urinary dopamine, Increased blood urea n... |
ORPHA:230 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... |
OMIM:605637 |
Timothy Syndrome |
|
Hypocalcemia, Hypoglycemia |
OMIM:601005 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Left ven... |
ORPHA:746 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... |
ORPHA:71526 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency |
ORPHA:54057 |
Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Elevated circulating c... |
OMIM:609452 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hypophosphatemia, Hyperphosphaturia, Large for gestational age, Diabet... |
OMIM:616026 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Rhabdomyolysis, Elevated circulating creatine kinase concentration, ... |
OMIM:618120 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Generalized aminoaciduria, Failure to thrive, Hypocalcemic seizures, Hypocalcemia |
OMIM:264700 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria |
OMIM:238750 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced rhabdomyolysis, Exercise-induced myoglobinuria, Elevated cr... |
ORPHA:284426 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Aminoaciduria |
ORPHA:2278 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Abnormal renal physiology, Increased blood urea nitrogen, Elevated cir... |
OMIM:274150 |
Central Core Disease |
|
Abnormal circulating creatine kinase concentration, Multiple joint contractures, Central core reg... |
ORPHA:597 |
Glucose-Galactose Malabsorption |
|
Weight loss, Hematuria, Failure to thrive, Hypercalcemia, Renal insufficiency, Hypernatremia, Nep... |
ORPHA:35710 |
Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Flexion contracture, Decreased body weight, Centr... |
OMIM:602771 |
Saccharopinuria |
|
Hyperlysinemia, Hyperlysinuria, Citrullinuria, Abnormality of circulating enzyme level, Cystinuri... |
ORPHA:3124 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Chronic tubulointerstitial nephrit... |
OMIM:602088 |
Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Hypercalcemia |
ORPHA:33111 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Failure to thrive, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Calcinosis, Hypophosphatemia, Hyperphosphaturia, Failure to thrive, Polyuria, Hype... |
OMIM:239200 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Obesity, Hypocalcemia |
ORPHA:79445 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... |
OMIM:619065 |
Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Failure to thrive, Chondrocalcinosis, Hypomagnesemia |
OMIM:263800 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Multiple joint contractures, Centrally nucleated ... |
ORPHA:486815 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Weight loss, Transient hypophosphatemia, Hyperkalemia, Mildly elevated crea... |
ORPHA:79102 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Hypoplasia of penis, Failure to thrive, Hypoglycem... |
ORPHA:181393 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Congenital muscular dystrophy, Flexion contracture, Eleva... |
OMIM:607855 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Weight loss, Nephrotic syndrome, Renal inter... |
ORPHA:85450 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Neonatal Hemochromatosis |
|
Abnormal localization of kidney, Hypoglycemia, Increased circulating ferritin concentration, Incr... |
ORPHA:446 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Elevated circulating creatine k... |
OMIM:615422 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
ORPHA:401768 |
Bardet-Biedl Syndrome 13 |
|
Obesity, Bone spicule pigmentation of the retina |
OMIM:615990 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia |
OMIM:608320 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets... |
ORPHA:681 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Alaninuria |
OMIM:615158 |
Cholera |
|
Abnormality of renal excretion, Acute kidney injury, Hypokalemia, Decreased urine output, Abnorma... |
ORPHA:173 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Facial palsy, Ragged-red muscle fibers, EMG: myopathic abnormalities |
OMIM:609283 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... |
OMIM:254090 |
Gitelman Syndrome |
|
Decreased urinary potassium, Glucose intolerance, Renal tubular acidosis, Type II diabetes mellit... |
ORPHA:358 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Ragged-red muscle fibers, Recurrent myoglobinuria |
OMIM:550500 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Elevated circ... |
OMIM:123320 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Elevated circulating creatine kinase concentration, Weakness of facial musculatur... |
OMIM:618416 |
Pearson Syndrome |
|
Pigmentary retinopathy, Anemia, Hyperalaninemia, Cafe-au-lait spot, Small for gestational age, Hy... |
ORPHA:699 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc... |
ORPHA:99879 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Ca... |
ORPHA:94089 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression, Decreased circulating ferritin concentration |
ORPHA:330054 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Pigmentary retinopathy, Hypopigmentation of the skin, Weight loss, D... |
OMIM:219800 |
Rhabdoid Tumor |
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Renal neoplasm, Hematuria, Hypercalcemia, Weight loss |
ORPHA:69077 |
Dilution, Pigmentary |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Myopathic Ehlers-Danlos Syndrome |
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Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... |
ORPHA:536516 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... |
ORPHA:98905 |
Dent Disease 2 |
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Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce... |
OMIM:300555 |
Igg4-Related Retroperitoneal Fibrosis |
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Hydronephrosis, Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epit... |
ORPHA:49041 |
Hyperparathyroidism 4 |
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Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Merrf |
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Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
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Hyperalaninemia, Decreased plasma free carnitine, Left ventricular hypertrophy, Increased urine s... |
OMIM:619048 |
Griscelli Syndrome Type 3 |
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Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati... |
OMIM:619386 |
Bartter Syndrome, Type 1, Antenatal |
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Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... |
OMIM:601678 |
Intellectual Developmental Disorder, X-Linked 97 |
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Synophrys, Obesity |
OMIM:300803 |
Dahlberg-Borer-Newcomer Syndrome |
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Nephropathy, Hypocalcemia, Renal insufficiency |
ORPHA:1563 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
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Hyperleucinemia, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia, Organic aciduria, F... |
OMIM:210210 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Multiple lipomas, Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis |
OMIM:600740 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Aminoaciduria, Calcinosis, Hypokalemia, Renal artery stenosis, Hyponatremia, Renal hypoplasia, Ne... |
OMIM:617913 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
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Decreased plasma carnitine, Macroglossia, Mildly elevated creatine kinase, Myopathy, Increased mu... |
ORPHA:254864 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Hypophosphatemia, Generalized aminoaciduria, Failure to thrive, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Congenital Disorder Of Glycosylation, Type Ig |
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Small for gestational age, Failure to thrive, Hypospadias, Hypocalcemia, Micropenis |
OMIM:607143 |
Non-Functioning Paraganglioma |
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Weight loss, Elevated urinary epinephrine, Hematuria, Elevated urinary dopamine, Hypercalcemia, E... |
ORPHA:94080 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Hypokalemia, Hypomagnesemia, Increased circulating renin level |
OMIM:612780 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Aminoaciduria, Cachexia, Elevated circulating creatine kinase concentration, Skeletal muscle atro... |
ORPHA:1933 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Albers-Schönberg Osteopetrosis |
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Hypocalcemia, Facial palsy |
ORPHA:53 |
Primary Hyperoxaluria Type 3 |
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Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
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Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Waardenburg Syndrome, Type 2B |
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White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Albinism, Oculocutaneous, Type Iv |
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Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
3-Hydroxyisobutyric Aciduria |
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Failure to thrive, Aminoaciduria |
OMIM:236795 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Elevated circulating ... |
ORPHA:353327 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Increased total bilirubin, Knee flexion contracture, Hydronephrosis, Decreased plasma free carnit... |
OMIM:608836 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypokalemia, Polycystic kidne... |
OMIM:613095 |
Stimmler Syndrome |
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Aminoaciduria, Type II diabetes mellitus |
ORPHA:3199 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
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Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Glycerol Kinase Deficiency |
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Small for gestational age, Muscular dystrophy, Increased urinary glycerol, Hypoglycemia, Myopathy... |
OMIM:307030 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Failure to thrive, Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Bartter Syndrome Type 4 |
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Small for gestational age, Hypokalemia, Increased circulating renin level, Failure to thrive, Hyp... |
ORPHA:89938 |
Adamantinoma |
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Hypercalcemia |
ORPHA:55881 |
Tiglic Acidemia |
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Aminoaciduria |
OMIM:275190 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
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Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... |
OMIM:618823 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Abnormal renal tubular resorption, Hypocalcemic tetany, Hyperprostaglandinuria, Nephrocalcinosis,... |
ORPHA:73224 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelash... |
OMIM:300946 |
Visceral Steatosis, Congenital |
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Renal steatosis, Hypocalcemia, Myocardial steatosis, Hypoglycemia |
OMIM:228100 |
Combined Oxidative Phosphorylation Deficiency 28 |
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Ragged-red muscle fibers, Increased serum pyruvate |
OMIM:616794 |
X-Linked Agammaglobulinemia |
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Failure to thrive, Hypocalcemia, Weight loss |
ORPHA:47 |
Hypomagnesemia 3, Renal |
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Failure to thrive, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Fanconi Renotubular Syndrome 1 |
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Aminoaciduria, Glycosuria, Hypokalemia, Hypophosphatemia, Hyperphosphaturia, Renal tubular dysfun... |
OMIM:134600 |
Oncogenic Osteomalacia |
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Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia |
ORPHA:352540 |
Cystinosis |
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Aminoaciduria, Hypophosphatemia, Hypokalemia, Type I diabetes mellitus, Failure to thrive, Nephro... |
ORPHA:213 |
Pparg-Related Familial Partial Lipodystrophy |
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Hyperuricemia, Abnormality of skeletal muscle fiber size, Insulin resistance, Maternal diabetes, ... |
ORPHA:79083 |
Ichthyosis, Split Hairs, And Amino Aciduria |
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Aminoaciduria |
OMIM:242550 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
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Aminoaciduria |
ORPHA:79156 |
Osteopetrosis, Autosomal Recessive 1 |
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Failure to thrive, Hypocalcemia, Facial paralysis, Facial palsy |
OMIM:259700 |
Diamond-Blackfan Anemia 3 |
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Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Autosomal Dominant Polycystic Kidney Disease |
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Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
Primary Fanconi Renotubular Syndrome |
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Renal phosphate wasting, Hyperuricosuria, Weight loss, Glycosuria, Stage 5 chronic kidney disease... |
ORPHA:3337 |
Sanjad-Sakati Syndrome |
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Hypocalcemia, Myopathy, Hypoplasia of penis, Hyperphosphatemia |
ORPHA:2323 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Elbow flexion contracture, Ab... |
ORPHA:1145 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
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Aminoaciduria, Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Facial... |
OMIM:612073 |
Diffuse Neonatal Hemangiomatosis |
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Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia |
ORPHA:2123 |
Bacterial Toxic-Shock Syndrome |
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Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Micropenis, Hypospadias, Hypercalcemia, Hypercalciuria |
OMIM:614732 |
Central Precocious Puberty |
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Abnormality of secondary sexual hair, Cafe-au-lait spot, Overgrowth, Obesity, Increased body weight |
ORPHA:759 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Ketotic hypoglycemia, Ketonuria, Glycosuria, Failure to thrive, Postprandial hyperglycemia, Hyper... |
ORPHA:2089 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, Ureth... |
OMIM:226670 |
Coach Syndrome 2 |
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Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
Glutamate Formiminotransferase Deficiency |
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Aminoaciduria, Positive ferric chloride test |
OMIM:229100 |
Gracile Bone Dysplasia |
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Failure to thrive, Hypocalcemia, Micropenis |
OMIM:602361 |
Glycogen Storage Disease Ixb |
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Increased muscle glycogen content, Hypoglycemia, Hyperuricemia |
OMIM:261750 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Obesity, Hypoalbuminemia |
ORPHA:88643 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Distal arthrogryposis, Elevated urinary 3-hydroxybutyric acid, Cachexia, Dicarboxylic aciduria, E... |
ORPHA:42 |
Congenital Myopathy 1B, Autosomal Recessive |
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Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:255320 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Hypocalcemia, Micropenis, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Galactosemia I |
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Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... |
OMIM:230400 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... |
OMIM:614376 |
Pseudohypoparathyroidism Type 1C |
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Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Ca... |
ORPHA:79444 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Weight loss |
ORPHA:79238 |
Combined Malonic And Methylmalonic Acidemia |
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Methylmalonic acidemia, Dicarboxylic acidemia, Dicarboxylic aciduria, Failure to thrive, Hypoglyc... |
ORPHA:289504 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
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Amelogenesis imperfecta, Hypomagnesemia |
OMIM:248190 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Myopathy |
ORPHA:33574 |
Autosomal Dominant Centronuclear Myopathy |
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Urinary incontinence, Centrally nucleated skeletal muscle fibers, Abnormality of the foot muscula... |
ORPHA:169189 |
Renal Cysts And Diabetes Syndrome |
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Hyperuricemia, Impaired glucose tolerance, Glycosuria, Stage 5 chronic kidney disease, Abnormalit... |
OMIM:137920 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration |
OMIM:619024 |
46,Xy Sex Reversal 4 |
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Renal dysplasia, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circ... |
OMIM:154230 |
Griscelli Syndrome Type 2 |
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Premature graying of hair, Iris hypopigmentation, Pancytopenia, Hypopigmentation of hair, Hemopha... |
ORPHA:79477 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Failure to thrive, Increased variability in muscle fiber diameter |
OMIM:614096 |
Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... |
OMIM:620161 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles |
OMIM:615426 |
Hypotrichosis 8 |
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Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Dia... |
ORPHA:439232 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia, Nephrolithiasis |
ORPHA:93160 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Urinary incontinence, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand muscle... |
ORPHA:329478 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Arthrogryposis multiplex congenita, Failure to... |
OMIM:613404 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Decreased plasma carnitine, Elevated plasma br... |
ORPHA:2394 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Bartter Syndrome, Type 2, Antenatal |
|