Hepatorenocardiac Degenerative Fibrosis |
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Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Nephronophthisis 16 |
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Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... |
ORPHA:457050 |
Barth Syndrome |
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Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis |
ORPHA:111 |
Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Aa Amyloidosis |
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Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... |
ORPHA:85445 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Spastic Paraplegia Type 7 |
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Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Urinary ... |
ORPHA:99013 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atrophy, Mitochondrial hypertroph... |
OMIM:500013 |
Nephronophthisis 2 |
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Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Meckel Syndrome, Type 8 |
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Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Autosomal Dominant Polycystic Kidney Disease |
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Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... |
ORPHA:730 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Decreased mitochondrial number |
ORPHA:352470 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Mac... |
OMIM:608836 |
Cardiomyopathy, Dilated, 1R |
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Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... |
OMIM:602541 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Decreased mitochondrial number, Dilated cardiomyopathy, Ragged-red muscle fibers, Nephrolithiasis... |
ORPHA:352447 |
Hsd10 Mitochondrial Disease |
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Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Meacham Syndrome |
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Accessory spleen, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal d... |
OMIM:608978 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... |
ORPHA:263297 |
Renal Dysplasia |
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Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria |
OMIM:619063 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
Mucopolysaccharidosis-Plus Syndrome |
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Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Macroglossia, Nephrotic syndrome, F... |
OMIM:617303 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Cardiac-Urogenital Syndrome |
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Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
Glycogen Storage Disease Ia |
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Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Nephrolithiasis,... |
OMIM:232200 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Tyrosinemia, Type I |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... |
OMIM:276700 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... |
OMIM:615578 |
Barth Syndrome |
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Dilated cardiomyopathy, Abnormal mitochondrial morphology, Skeletal myopathy, 3-Methylglutaconic ... |
OMIM:302060 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureter... |
OMIM:130650 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Stage 5 chronic kidney disease, Lacticaciduria, Abnormal heart morphology, Decreased activity of ... |
OMIM:618250 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally... |
OMIM:619518 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatic steatosis, Hepatomegaly, Hypospad... |
ORPHA:17 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal mitochondrial morphology, Generalized amyotrophy |
ORPHA:275872 |
Mitochondrial Phosphate Carrier Deficiency |
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Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
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Myopathy, Hypertrophic cardiomyopathy, Abnormality of the mitochondrion |
ORPHA:91130 |
Diaphanospondylodysostosis |
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Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Glycogen Storage Disease Ib |
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Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neph... |
OMIM:232220 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Alg9-Cdg |
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Hepatomegaly, Torticollis, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypopla... |
ORPHA:79328 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Denys-Drash Syndrome |
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Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... |
OMIM:194080 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Abnormal heart morphology, ... |
ORPHA:505248 |
Kaposiform Lymphangiomatosis |
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Pericardial effusion, Splenomegaly, Pancreatic cysts, Hepatosplenomegaly, Abnormal spleen morphol... |
ORPHA:464329 |
Igg4-Related Kidney Disease |
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Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... |
ORPHA:449395 |
Acrocephalopolydactylous Dysplasia |
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Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... |
OMIM:200995 |
Beckwith-Wiedemann Syndrome |
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Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter... |
ORPHA:116 |
H Syndrome |
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Abnormality of the kidney, Hepatosplenomegaly, Azoospermia, Camptodactyly, Micropenis, Decreased ... |
ORPHA:168569 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Fumarase Deficiency |
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Bilateral fetal pyelectasis, Increased urine succinate level, Decreased fumarate hydratase activi... |
OMIM:606812 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Macroglossia, Mucopolysacchariduria, C... |
OMIM:252500 |
Dystonia-Aphonia Syndrome |
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Macroglossia, Abnormal urinary odor, Abnormal mitochondrial shape |
ORPHA:412217 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Proteinuria, Hepatocellular adenoma, Stage 5 chronic kidney disease, Nephrolithiasi... |
ORPHA:79259 |
Ogden Syndrome |
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Global glomerulosclerosis, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricul... |
OMIM:300855 |
Lymphoid Interstitial Pneumonia |
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Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Leprechaunism |
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Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcin... |
ORPHA:508 |
Hyperparathyroidism, Transient Neonatal |
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Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
Endocrine-Cerebroosteodysplasia |
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Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Atrial septal defect, Hepatomegaly, ... |
OMIM:312870 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog... |
OMIM:214110 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent urinary tract infections, Facial palsy, Cryptorchidism, Mitral valve prolapse, Abnormal... |
OMIM:615873 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Hydrocele testis, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Abnormal urine alpha-ketoglutarat... |
ORPHA:31 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape |
ORPHA:485421 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape |
ORPHA:543470 |
Homozygous Familial Hypercholesterolemia |
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Tendon xanthomatosis, Renal steatosis, Abnormal tendon morphology, Renal artery stenosis, Myocard... |
ORPHA:391665 |