Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated uridine in urine |
OMIM:618477 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Elevated ... |
OMIM:617158 |
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Methylmalonic aciduria |
OMIM:613646 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Elevated circ... |
OMIM:618655 |
Glycogen Storage Disease Xiii |
|
Elevated circulating creatine kinase concentration, Increased muscle glycogen content |
OMIM:612932 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated cir... |
ORPHA:611 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
Nonaka Myopathy |
|
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Rimmed vacuoles... |
OMIM:605820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Highly elevated creatine kinase, Muscle fiber necrosis, ... |
OMIM:618848 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy, Musc... |
OMIM:617030 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Elevated circulating cre... |
OMIM:601954 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Type II diabetes mellitus, Elevated circulating cr... |
OMIM:500002 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Failure to thrive, Nephrolithiasis, Cystinuria, Hypocalcemia |
ORPHA:163693 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... |
OMIM:161900 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Elevated circulating cre... |
OMIM:609115 |
Welander Distal Myopathy |
|
Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... |
ORPHA:178464 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, Elevated circulating creatine kinase concentration, EMG: myopathi... |
OMIM:618940 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Distal Myopathy, Welander Type |
|
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly ele... |
ORPHA:603 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Viral infection-induced rhabdomyolysis, Type 2 mus... |
ORPHA:99845 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Eleva... |
OMIM:609524 |
Refractory Celiac Disease |
|
Hypoproteinemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Hypop... |
ORPHA:398063 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Foot dorsiflexor weakness, Flexion contractur... |
OMIM:615883 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Elevated circulating creatine kinase concentr... |
ORPHA:266 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Shoulder girdl... |
OMIM:254110 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
OMIM:300717 |
Hypomagnesemia, Seizures, And Mental Retardation 1 |
|
Hypomagnesemia |
OMIM:616418 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Hyperpigmentation of the skin, Nail dystrophy, Anemia, Alopecia, Hypomagne... |
OMIM:175500 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Congenital... |
OMIM:613204 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Myopathy, Mildly elevated creatine kinase, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnor... |
OMIM:615424 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Failure to thrive, Anemia, Hyperuricemia, Hypomagnesemia, Thrombocytopenia |
OMIM:613845 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Facial palsy, Cystinuria, Nephrolithiasis, Neonatal hypoglycemia, Hypocalcemia |
OMIM:606407 |
Myopathy, Myofibrillar, 3 |
|
Elevated circulating creatine kinase concentration, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Muscular dystro... |
OMIM:253601 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... |
ORPHA:457050 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Mildly elevated creatine kinase, Congeni... |
OMIM:609456 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Calf ... |
ORPHA:488650 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Abnormal circulating creatine kinase concentration, Autophagic vacuoles, Facial diplegia, EMG: my... |
ORPHA:399058 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... |
OMIM:616963 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:609500 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Myop... |
ORPHA:1878 |
Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration, Increased body mass ind... |
ORPHA:275555 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum pyruvate, Increased intramyocellular lipid droplets, Weakness of facial musculature |
OMIM:619062 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Elevated circulating creati... |
ORPHA:270 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con... |
ORPHA:567544 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Renal Fanconi syndrome, Hypokalemia, Failure to ... |
ORPHA:411634 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... |
OMIM:256030 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Bethlem Myopathy 2 |
|
Myopathy, Elevated circulating creatine kinase concentration, Increased variability in muscle fib... |
OMIM:616471 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Muscular dystrophy... |
OMIM:617072 |
Miyoshi Muscular Dystrophy 1 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Deposits immunoreactive t... |
OMIM:254130 |
Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
OMIM:242600 |
Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
ORPHA:42062 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Blue Diaper Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hype... |
ORPHA:94086 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... |
OMIM:160500 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Hypomagnesemia, Obesity |
ORPHA:34527 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Highly elevated creatine kinase, Myopathy, Increased ... |
OMIM:618992 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Elevated circulating creatine kinase concentration, Rimmed vacuoles, Limb-girdle muscul... |
OMIM:612937 |
Saccharopinuria |
|
Saccharopinuria, Citrullinuria, Hyperlysinuria, Histidinuria, Elevated circulating sacchoropine c... |
OMIM:268700 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Elevated circulating creatine kinase c... |
OMIM:616924 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circulating creatine ... |
ORPHA:276435 |
Hyperprolinemia, Type Ii |
|
Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:239510 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia, Aciduria |
OMIM:617950 |
Hyper-Beta-Alaninemia |
|
Failure to thrive, Hyperbeta-alaninemia, Increased urinary taurine |
OMIM:237400 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Chondrocalcinosis, Hypokalemia |
OMIM:154020 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... |
OMIM:612926 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... |
ORPHA:6 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapular winging, Flexion contracture, Rimmed vacuoles, Elevated circulating creatine kinase conc... |
OMIM:300696 |
Vacuolar Neuromyopathy |
|
Elevated circulating creatine kinase concentration, Shoulder girdle muscle weakness, Rimmed vacuo... |
OMIM:601846 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Renal dysplasia, Elevated circulating creatinine concentration, Left v... |
OMIM:616733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Facial palsy, ... |
OMIM:603511 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Achilles tendo... |
OMIM:603689 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Myopathy, Elevated circulating creatine kinase concentration, Scapular wingi... |
OMIM:618129 |
Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Mildly elevated creatine ... |
ORPHA:171442 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, Elevated circulating creatine kinase... |
OMIM:608358 |
Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
Familial Isolated Hypoparathyroidism |
|
Myopathy, Nephropathy, Hypocalcemia |
ORPHA:2238 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... |
OMIM:619042 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss, Anemia, Hypomagnesemia, Reduced proportion of CD4+... |
ORPHA:90362 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... |
ORPHA:34516 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Hyperprolinemia Type 1 |
|
Hyperprolinemia, Proteinuria, Prolinuria, Nephropathy |
ORPHA:419 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Highly elevated creatine kinase, Skeletal muscle atrophy... |
ORPHA:352479 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia |
ORPHA:172 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Hypoglycemia, Renal tubular dysfunction, Failure to thrive, Hyperinsul... |
OMIM:606528 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Pelvic girdle muscle weakness, Myoglobinuria, Elevated circulating creatine kinase conc... |
ORPHA:119 |
Myopathy, Myofibrillar, 2 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, EMG: myopathic abnormali... |
OMIM:608810 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... |
ORPHA:399086 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... |
ORPHA:79233 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Elevated circulating creatine ki... |
OMIM:609560 |
Riboflavin Deficiency |
|
Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial pals... |
ORPHA:97240 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... |
OMIM:619477 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Stage 5 chronic kid... |
ORPHA:329918 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... |
OMIM:619178 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Anemia, Hypocalcemia |
OMIM:244460 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom... |
OMIM:619468 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Elevated ci... |
OMIM:618138 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy |
OMIM:242530 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... |
OMIM:616689 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Hypokalemia, Alopecia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia... |
ORPHA:31824 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine |
ORPHA:1325 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
OMIM:300718 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Small for gestational age, Macroglossia, Hy... |
OMIM:618440 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly elevated cre... |
OMIM:610099 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Elevated circulating creatine kinase concentration, Shoulder girdle muscle atrophy, Muscular dyst... |
OMIM:613530 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... |
OMIM:300580 |
Dibasic Amino Aciduria I |
|
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Decreased muscle mass, Myoglobinuria, Viral infection-induced rhabdomyolysis, Skele... |
ORPHA:57 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Increased muscle lipid content, Tubulointerstitial nephritis, Myoglobinuria, Elevated circulating... |
ORPHA:228302 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Carnosinuria |
OMIM:309930 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Elevated circulating creatine kinase concentration, Generalized amyot... |
ORPHA:86812 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia |
ORPHA:147 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin |
OMIM:614072 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis |
OMIM:211000 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Decreased prealbumin level, Cachexia, Neutropenia, Neutropenia in p... |
ORPHA:37042 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Elevated circulating cr... |
ORPHA:353 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Elevated circulating creatine kinase concentration, Hypoglycosylation of alpha-dyst... |
OMIM:616052 |
Acromegaloid Facial Appearance Syndrome |
|
Highly arched eyebrow, Large for gestational age |
OMIM:102150 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
Gracile Syndrome |
|
Increased serum iron, Increased circulating ferritin concentration, Aminoaciduria, Increased seru... |
OMIM:603358 |
Galactosemia Iii |
|
Failure to thrive, Aminoaciduria, Hypergalactosemia, Galactosuria |
OMIM:230350 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... |
OMIM:607624 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Mildly elevated creatine kinase, Flexion contracture, Scapular winging,... |
OMIM:616228 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate c... |
ORPHA:35878 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypouricemia, Hypoglycemia, Nephrocalcinosis, Large for gestational age, Glyco... |
OMIM:616026 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... |
OMIM:608423 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Elevated ... |
OMIM:613954 |
Camptodactyly 1 |
|
Camptodactyly of finger, Increased urinary taurine |
OMIM:114200 |
Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, Elevated circulating creatine kinase concentration, EMG: myopathi... |
ORPHA:98911 |
East Syndrome |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia |
ORPHA:199343 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, 3-Methylglutaco... |
OMIM:618120 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
Small Cell Carcinoma Of The Bladder |
|
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria |
ORPHA:284400 |
Dpm3-Cdg |
|
Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated creatine kinase after exercise, Muscular... |
ORPHA:263494 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Ring Chromosome 10 Syndrome |
|
Renal hypoplasia/aplasia, Cachexia, Hypocalcemia |
ORPHA:1438 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia |
OMIM:619658 |
Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... |
OMIM:232700 |
Uremic Pruritus |
|
Hypercalcemia, Chronic kidney disease, Stage 5 chronic kidney disease, Increased blood urea nitro... |
ORPHA:94059 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Elevated circulating creatine kina... |
ORPHA:437572 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hypoketotic hypoglycemia, Small for gestational age, Elevated circulating creati... |
ORPHA:26793 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Elevated circulating creatine kinase concentration... |
ORPHA:75840 |
Cryoglobulinemia, Familial Mixed |
|
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... |
OMIM:123550 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... |
ORPHA:2260 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Episodic hypokalemia, Increased intramyocellular lipid droplets... |
ORPHA:681 |
Cystinuria |
|
Ornithinuria, Cystinuria, Nephrolithiasis, Recurrent urinary tract infections, Argininuria, Hyper... |
OMIM:220100 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Reversible renal failure, Acute tubulointerstitial... |
OMIM:607665 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Increased variability in... |
OMIM:619065 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy, Aminoaciduria |
OMIM:204730 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Hypomagnesemia, Irregular hyperpigmentation, Abnormality of the nail, Hypocalcemia, Abn... |
ORPHA:428 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... |
ORPHA:94093 |
Hereditary Continuous Muscle Fiber Activity |
|
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... |
ORPHA:972 |
Renal Tubular Acidosis, Distal, 1 |
|
Renal tubular acidosis, Nephrocalcinosis, Hypocalcemia |
OMIM:179800 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating neopterin concentration, Hypomagnesemia, Abnormal circulating biopterin conc... |
ORPHA:1578 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... |
ORPHA:251004 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas |
OMIM:145981 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hyperphosphatemia |
ORPHA:36913 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, EMG: myopathic abnormali... |
OMIM:609452 |
Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:610717 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... |
OMIM:143880 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia |
ORPHA:71529 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency |
ORPHA:54057 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Hypoketotic hypoglycemia, Skeletal myopathy, Left ventricular hyper... |
ORPHA:746 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, ... |
OMIM:615422 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration... |
ORPHA:94089 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Elevated circulating creatine kina... |
OMIM:167320 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:486815 |
Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... |
ORPHA:99879 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... |
OMIM:254090 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Skeletal muscle atr... |
OMIM:617070 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Failure to thrive, Weight loss, Hematuria, Nephrolithiasis, Renal i... |
ORPHA:35710 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Lipodystrophy, Abdominal obesity, Elevated circulating ... |
OMIM:615980 |
Granulomatous Slack Skin |
|
Hypercalcemia, Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Elevated circulating creatine kinase concentration, Increased endomysial connective tissue, Flexi... |
OMIM:607855 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Dibasicaminoaciduria, Hyperlysinemia, Hyperammonemia |
OMIM:238750 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Failure to thrive, Hypopigmentation of the skin, Obesity, Childhood-ons... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Failure to thrive, Hypopigmentation of the skin, Obesity, Childhood-ons... |
ORPHA:71526 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria |
OMIM:612075 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... |
OMIM:274150 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Acute kid... |
ORPHA:284426 |
Propionic Acidemia |
|
Hypoglycemia, Organic aciduria, Hyperammonemia |
ORPHA:35 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Aminoaciduria |
ORPHA:2278 |
Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Abnormal circulat... |
ORPHA:597 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia, Renal insufficiency |
OMIM:240150 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Mildly elevated... |
ORPHA:254864 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Failure to thrive, Renal salt wasting |
OMIM:614736 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Myopathy, Decreased HDL cholesterol concentration, Tubulointerstitial neph... |
ORPHA:85450 |
Gitelman Syndrome |
|
Chondrocalcinosis, Hypokalemia, Failure to thrive, Hypomagnesemia, Increased circulating renin level |
OMIM:263800 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Saccharopinuria |
|
Hypercystinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperammonemia, Citrullinur... |
ORPHA:3124 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Episodic hypokalemia, Weight loss, Mildly elevated creatine kinase, Hypomagnesemia,... |
ORPHA:79102 |
Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hyperphosphaturia, Calcinosis, Failure to thrive, Hypophosphatemia, Aminoaciduria,... |
OMIM:239200 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities |
OMIM:609283 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers, Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Salih Myopathy |
|
Myopathy, Elevated circulating creatine kinase concentration, Facial palsy, Calf muscle hypertrop... |
OMIM:611705 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Elevated circulating creatine kinase concentration, E... |
OMIM:123320 |
Neonatal Hemochromatosis |
|
Increased serum iron, Increased circulating ferritin concentration, Abnormal localization of kidn... |
ORPHA:446 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Carnitine Deficiency, Systemic Primary |
|
Myopathy, Hypoglycemia, Failure to thrive, Hyperammonemia, Recurrent hypoglycemia, Reduced muscle... |
OMIM:212140 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Skeletal muscle atrophy, Elevated circulating creatine kinase co... |
ORPHA:368 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Renal potassium wasting, Type I diabetes mellitus, Enuresis, Type I... |
ORPHA:358 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Elevated circulating creatinin... |
OMIM:235400 |
Growth Hormone Insensitivity Syndrome |
|
Hypoglycemia, Type II diabetes mellitus, Insulin resistance, Failure to thrive, Truncal obesity, ... |
ORPHA:181393 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67046 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Skeletal muscle atrophy, Hyperuricemia, Increased muscle glycogen content |
ORPHA:371 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Hyperbilirubinemia, Red hair |
OMIM:609734 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Scapuloperoneal amyotrophy, Elevated circulating creatine kinase concentration, EMG: myopathic ab... |
OMIM:255160 |
Bardet-Biedl Syndrome 13 |
|
Obesity, Bone spicule pigmentation of the retina |
OMIM:615990 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
Pearson Syndrome |
|
Pigmentary retinopathy, Neutropenia, Hypokalemia, Small for gestational age, Hyperpigmentation of... |
ORPHA:699 |
Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Mildly elevate... |
ORPHA:401768 |
Cholera |
|
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypoglycemia, Hypokalemia, ... |
ORPHA:173 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia |
OMIM:612780 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Weight loss, Hematuria |
ORPHA:69077 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Mildly elevated creatine kinase |
ORPHA:663 |
Oculocerebrodental Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Hypocalcemia |
ORPHA:557003 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Small for gestational age, Failure to thrive, Micropenis, Hypocalcemia |
OMIM:607143 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity, Synophrys |
OMIM:300803 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles |
OMIM:617760 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Nephrolithiasis |
OMIM:617343 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... |
OMIM:174000 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Hyperalaninemia, Left ventricul... |
OMIM:619048 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Micropenis, Hypercalciuria |
OMIM:614732 |
Pparg-Related Familial Partial Lipodystrophy |
|
Abnormality of skeletal muscle fiber size, Myopathy, Maternal diabetes, Skeletal muscle hypertrop... |
ORPHA:79083 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Chondrocalcinosis, Small for gestational age, Hypokalemia, Failure to thrive, Incr... |
OMIM:601678 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Dahlberg-Borer-Newcomer Syndrome |
|
Renal insufficiency, Nephropathy, Hypocalcemia |
ORPHA:1563 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Abnormal circulating selenium concentration |
ORPHA:171706 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Hypoglycemia, Lacticaciduria, Elevated circulating creatine kinase concentration... |
OMIM:619386 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia, Histidinuria, Impaired histidine renal tubular absorption |
ORPHA:2158 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemic seizures, Failure to thrive, Hypophosphatemia, Hypocalcemia |
ORPHA:289157 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ... |
OMIM:613095 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Multiple lipomas |
OMIM:600740 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Weight los... |
ORPHA:49041 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Skeletal muscle atrophy, Methylmalonic aciduria, Elevated circulating creatine kinase c... |
ORPHA:1933 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... |
OMIM:134600 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Glycerol Kinase Deficiency |
|
Myopathy, Hypoglycemia, Small for gestational age, Muscular dystrophy, Increased urinary glycerol... |
OMIM:307030 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Myopathy, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Increased variability in... |
ORPHA:397744 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Elevated circulating creatin... |
ORPHA:353327 |
Non-Functioning Paraganglioma |
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Hypercalcemia, Elevated urinary epinephrine, Hematuria, Weight loss, Elevated urinary norepinephr... |
ORPHA:94080 |
Albers-Schönberg Osteopetrosis |
|
Facial palsy, Hypocalcemia |
ORPHA:53 |
Myopathy, Centronuclear, 1 |
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Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... |
OMIM:160150 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Glycogen Storage Disease Ixa1 |
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Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
Galactosemia I |
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Hypergalactosemia, Failure to thrive, Increased level of galactitol in urine, Increased level of ... |
OMIM:230400 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
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Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
Adamantinoma |
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Hypercalcemia |
ORPHA:55881 |
Rigid Spine Muscular Dystrophy 1 |
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Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize... |
OMIM:602771 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Hypoglycemia, Small for gestational age, Hyperalaninemia, Hyperammonemia, Elevated circulating se... |
OMIM:615160 |
Waardenburg Syndrome, Type 2B |
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Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Micropenis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
3-Hydroxyisobutyric Aciduria |
|
Failure to thrive, Aminoaciduria |
OMIM:236795 |
Albinism, Oculocutaneous, Type Iv |
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Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Renal cyst, ... |
ORPHA:730 |
Laing Early-Onset Distal Myopathy |
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Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... |
ORPHA:59135 |
Combined Oxidative Phosphorylation Deficiency 28 |
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Increased serum pyruvate, Ragged-red muscle fibers |
OMIM:616794 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
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Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypomag... |
ORPHA:73224 |
Syndromic X-Linked Intellectual Disability 7 |
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Obesity, Sparse body hair |
ORPHA:85274 |
Stimmler Syndrome |
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Aminoaciduria, Type II diabetes mellitus |
ORPHA:3199 |
Visceral Steatosis, Congenital |
|
Hypoglycemia, Myocardial steatosis, Renal steatosis, Hypocalcemia |
OMIM:228100 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... |
OMIM:613388 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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Myopathy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Decrea... |
OMIM:310300 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... |
ORPHA:98905 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Right ventricular hypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss, Hypocalcemia |
ORPHA:47 |
Cystinosis |
|
Myopathy, Renal tubular dysfunction, Hypokalemia, Failure to thrive, Hypophosphatemia, Type I dia... |
ORPHA:213 |
Sanjad-Sakati Syndrome |
|
Myopathy, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Hypokalemia, Increas... |
ORPHA:3337 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Facial paralysis, Facial palsy, Hypocalcemia |
OMIM:259700 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Generalized amyotro... |
OMIM:258450 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... |
OMIM:618823 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Hypoglycemia, Failure to thrive, Acute hyperammonemia, Hyperglycinuria, ... |
OMIM:210210 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Hypomagnesemia, Amelogenesis imperfecta |
OMIM:248190 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia |
ORPHA:2123 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Methylmalonic aciduria, Failure to t... |
ORPHA:289504 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... |
OMIM:255320 |
Glycogen Storage Disease Vii |
|
Exercise-induced myoglobinuria, Increased total bilirubin, Hyperuricemia, Increased muscle glycog... |
OMIM:232800 |
Bacterial Toxic-Shock Syndrome |
|
Myositis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine con... |
ORPHA:36234 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:229100 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Cachexia, Skeletal muscle atrophy, Hypoglycemia, Elevated circul... |
ORPHA:42 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... |
OMIM:605355 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, ... |
ORPHA:2089 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Maturity-onset diabetes of the young, Elevated circulating creatin... |
OMIM:137920 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Lipoma, Renal h... |
ORPHA:405 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentration, Genera... |
ORPHA:52430 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Aminoaciduria |
ORPHA:33574 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH ad... |
ORPHA:79444 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers |
OMIM:619024 |
Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Small for gestational age, Hypokalemia, Failure to thrive, Hypochloremia, Hypomagne... |
ORPHA:89938 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... |
OMIM:614376 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... |
OMIM:616470 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Rimmed vacuoles, Skeletal ... |
OMIM:619518 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98855 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... |
OMIM:255310 |
Central Precocious Puberty |
|
Abnormality of secondary sexual hair, Overgrowth, Obesity, Increased body weight, Cafe-au-lait spot |
ORPHA:759 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Insulin resista... |
ORPHA:2348 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary re... |
OMIM:145001 |
Galactose Epimerase Deficiency |
|
Weight loss, Aminoaciduria |
ORPHA:79238 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Nephrolithiasis, Hypocalcemia |
ORPHA:93160 |
Bartter Syndrome, Type 2, Antenatal |
|
Chondrocalcinosis, Small for gestational age, Hypokalemia, Failure to thrive, Increased serum pro... |
OMIM:241200 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... |
OMIM:618913 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
Pseudohypoparathyroidism, Type Ic |
|
Obesity, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphospha... |
OMIM:612462 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... |
OMIM:227810 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Gracile Bone Dysplasia |
|
Failure to thrive, Micropenis, Hypocalcemia |
OMIM:602361 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... |
ORPHA:439232 |
Cystathioninuria |
|
Nephrolithiasis, Cystathioninuria, Cystathioninemia |
ORPHA:212 |
Griscelli Syndrome Type 2 |
|
Partial albinism, Neutropenia, Hyperlipidemia, Splenomegaly, Iris hypopigmentation, Pancytopenia,... |
ORPHA:79477 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Renal insufficiency, Acute kidney injury, Uric acid nephrolithiasis, Crystalluri... |
ORPHA:411536 |
Hypophosphatasia, Infantile |
|
Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Failure to thrive, Elevated plasma... |
OMIM:241500 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hyperisoleucinemia, Hypoglycemia, Failure to thrive, Increased urine alpha-ketoglutarate concentr... |
ORPHA:2394 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hydronephrosis, Hypocalcemic seizures, Renal dysplasia, Hypocalcemia, Polycystic kidney dysplasia... |
ORPHA:2237 |
Bethlem Myopathy |
|
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
ORPHA:610 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Abnormal circulating creatine kinase concentration, Muscle fiber atrophy, Muscular dyst... |
ORPHA:369840 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Fasting hypoglycemia, Nephrocalcinosis, Failure to ... |
ORPHA:2088 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Weakness of facial musculature, Arthrogryposis multiplex congenita, Fl... |
OMIM:618484 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
OMIM:615703 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Facial palsy, Renal t... |
ORPHA:31826 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... |
|