Diaminopentanuria |
|
Neurodegeneration, Hyperlysinuria, Ataxia, Cystinuria |
OMIM:222350 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:79283 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Ataxia |
ORPHA:622 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Developmental And Epileptic Encephalopathy 92 |
|
Inability to walk, Lethargy, Ataxia, Difficulty walking |
OMIM:617829 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Difficulty walking, Distal sensory impairment |
OMIM:613710 |
Huntington Disease-Like 2 |
|
Chorea, Weight loss, Bradykinesia, Depression, Apathy, Inertia |
OMIM:606438 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Abnormal glycosylation, Failure to thrive |
OMIM:615596 |
Fructosuria, Essential |
|
Impairment of fructose metabolism |
OMIM:229800 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:26 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Lethargy, Small for gestational age |
OMIM:617065 |
Glut1 Deficiency Syndrome 1 |
|
Choreoathetosis, Lethargy, Paroxysmal lethargy, Ataxia |
OMIM:606777 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
Central Neurocytoma |
|
Pain insensitivity, Ataxia, Depression, Paresthesia, Lethargy |
ORPHA:73256 |
Tyrosinemia Type 2 |
|
Ataxia, Abnormality of amino acid metabolism |
ORPHA:28378 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Ataxia |
OMIM:618224 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Central Diabetes Insipidus |
|
Lethargy, Failure to thrive, Weight loss, Depression |
ORPHA:178029 |
Huntington Disease-Like 2 |
|
Chorea, Gait disturbance, Weight loss |
ORPHA:98934 |
Riboflavin Deficiency |
|
Lethargy, Low levels of vitamin B2 |
OMIM:615026 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Depre... |
ORPHA:248111 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Decreased methylcobalamin, Gait disturbance, Lethargy, Failure to thrive |
OMIM:236270 |
Fructose And Galactose Intolerance |
|
Fructose intolerance, Galactose intolerance |
OMIM:229500 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:274270 |
Urocanase Deficiency |
|
Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Cystinuria |
|
Abnormality of amino acid metabolism |
ORPHA:214 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Abnormality of amino acid metabolism, Cachexia |
ORPHA:220295 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Decreased circulating vitamin E concentration, Bradykinesia, Dysdiadochokinesis, Gait disturbance... |
ORPHA:309854 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:237310 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Dysmetria, Truncal ataxia, Lethargy, Failure to thrive |
OMIM:250620 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Ataxia, Urinary incontinence, Atrophy/Degeneration affecting the brainstem, D... |
OMIM:612319 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive |
ORPHA:28 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Lethargy, Chorea, Ataxia |
ORPHA:71277 |
Chronic Hiccup |
|
Weight loss, Depression |
ORPHA:396 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Cachexia, Chorea, Dysmetria, Depression, Gait ataxia |
OMIM:618093 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:26792 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Lethargy, Failure to... |
OMIM:238970 |
Glycine Encephalopathy 1 |
|
Lethargy |
OMIM:605899 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:618228 |
Galactose Epimerase Deficiency |
|
Impairment of galactose metabolism, Weight loss |
ORPHA:79238 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Hand tremor, Neurodegeneration, Dystonia |
OMIM:615889 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Small for gestational age |
OMIM:610498 |
Susac Syndrome |
|
Lethargy, Somatic sensory dysfunction, Apathy, Gait ataxia |
ORPHA:838 |
Isaacs Syndrome |
|
Distal sensory impairment, Weight loss |
ORPHA:84142 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Ataxia |
OMIM:246900 |
Severe Canavan Disease |
|
Inability to walk, Lethargy |
ORPHA:314911 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Ataxia, Gait ataxia |
ORPHA:101150 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:237300 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Choreoathetosis, Lethargy, Episodic ataxia, Small for gestational age |
OMIM:312170 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Chorea, Cerebral atrophy, Neurodegeneration, Dystonia, Cerebral corti... |
OMIM:617672 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Brain atrophy, Macrosc... |
ORPHA:251004 |
Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive |
ORPHA:35706 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Ataxia |
OMIM:618225 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Failure to thrive |
OMIM:613561 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin, L... |
OMIM:277410 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:618226 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Ataxia, Weight loss |
ORPHA:79242 |
Citrullinemia Type I |
|
Lethargy, Failure to thrive, Ataxia |
ORPHA:247525 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Increased body weight |
ORPHA:276608 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Failure to thrive, Ataxia |
ORPHA:2394 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Perry Syndrome |
|
Weight loss, Apathy, Depression |
ORPHA:178509 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Cyclic Vomiting Syndrome |
|
Lethargy, Ataxia |
OMIM:500007 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Failure to thrive in infancy |
OMIM:619064 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Lethargy, Failure to thrive |
ORPHA:79312 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Unsteady gait, Gait disturbance |
OMIM:603896 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Lethargy, Chorea |
ORPHA:289916 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin, Lethargy, Failure... |
OMIM:614857 |
Classic Galactosemia |
|
Ataxia, Depression, Gait disturbance, Gait imbalance, Lethargy, Low levels of vitamin D |
ORPHA:79239 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Choreoathetosis, Lethargy |
OMIM:233910 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Head titubation, Impai... |
OMIM:615491 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2089 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Weight loss, Failure to thrive, Cachexia, Gait ataxia |
OMIM:612075 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Paresthesia |
ORPHA:49827 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Lacticaciduria, Cerebral atrophy, Choreoathetosis, Dystonia |
OMIM:618247 |
Galactose Mutarotase Deficiency |
|
Failure to thrive, Impairment of galactose metabolism |
ORPHA:570422 |
Huntington Disease |
|
Inability to walk, Chorea, Depression, Bradykinesia, Weight loss, Gait disturbance, Gait imbalanc... |
ORPHA:399 |
Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Gait disturbance, Loss of ambulation, Lethargy, Failure to thrive |
OMIM:615838 |
Dihydropyrimidinase Deficiency |
|
Lethargy |
OMIM:222748 |
Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive, Ataxia, Abnormal blood folate concentration |
OMIM:275350 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Ataxia, Tremor, Limb ataxia, Dysmetria, Gait ataxia, Cerebral... |
OMIM:615157 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Small for gestational age, Large for gestational age |
ORPHA:324575 |
Perry Syndrome |
|
Akinesia, Depression, Bradykinesia, Weight loss, Apathy, Short stepped shuffling gait |
OMIM:168605 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Ataxia, Cachexia |
ORPHA:42 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Tremor, Chorea, Choreoathetosis, Blepharospasm, Neurodegeneration, Dyston... |
OMIM:606159 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Lethargy, Ataxia |
ORPHA:27 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Gait imbalance |
OMIM:618120 |
Hemochromatosis, Type 2A |
|
Lethargy |
OMIM:602390 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Ataxia |
ORPHA:927 |
Huntington Disease-Like 1 |
|
Chorea, Dysmetria, Depression, Bradykinesia, Gait ataxia, Weight loss, Gait disturbance |
ORPHA:157941 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy |
ORPHA:79230 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276556 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Vitamin B12 deficiency, Decreased adenosylcobalamin, Decreased methylcobalamin, Lethargy, Failure... |
ORPHA:79284 |
Pyruvate Dehydrogenase Deficiency |
|
Choreoathetosis, Lethargy, Ataxia, Gait disturbance |
ORPHA:765 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Cerebral atrophy, Neurodegeneration, Dystonia |
ORPHA:309246 |
Classic Homocystinuria |
|
Abnormality of amino acid metabolism |
ORPHA:394 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive |
OMIM:611590 |
Essential Fructosuria |
|
Impairment of fructose metabolism |
ORPHA:2056 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276575 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:201470 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276580 |
Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Lacticaciduria, Alaninuria, Dystonia, Hyperglutaminuria |
OMIM:616299 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Neurodegeneration, Dystonia |
OMIM:615643 |
Gerstmann-Straussler Disease |
|
Limb ataxia, Depression, Bradykinesia, Gait ataxia, Weight loss, Truncal ataxia |
OMIM:137440 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Lethargy, Failure to thrive, Decreased adenosylcobalamin |
OMIM:251110 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy |
OMIM:619386 |
Maple Syrup Urine Disease |
|
Lethargy, Ataxia |
OMIM:248600 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Insulinoma |
|
Abnormality of pain sensation, Lethargy, Paresthesia, Increased body weight |
ORPHA:97279 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Lethargy, Failure to thrive |
OMIM:251000 |
Typhoid |
|
Lethargy, Ataxia |
ORPHA:99745 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis, Ketonuria, Glycosuria |
OMIM:618857 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Cardiomegaly, Cerebral atrophy, Choreoathetosis, Frontotemporal cerebra... |
ORPHA:391428 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Lethargy |
OMIM:617105 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Decreased adenosylcobalamin, Lethargy, Abnormal vitamin B12 level, Failur... |
OMIM:251100 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy |
ORPHA:95717 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst |
OMIM:601539 |
Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Small for gestational age, Decreased adenosylcobalamin, Decreased methylc... |
OMIM:277380 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Neuronal loss in central nervous... |
OMIM:256600 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Failure to thrive |
OMIM:210200 |
Carnitine Deficiency, Systemic Primary |
|
Lethargy, Failure to thrive |
OMIM:212140 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy |
OMIM:600649 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormal metabolism, Depression |
ORPHA:77296 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Adrenoleukodystrophy |
|
Urinary incontinence, Limb ataxia, Neurodegeneration, Truncal ataxia, Urinary bladder sphincter d... |
OMIM:300100 |
Alexander Disease Type I |
|
Failure to thrive, Ataxia, Cachexia |
ORPHA:363717 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy |
OMIM:616483 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Ataxia |
OMIM:614299 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232200 |
Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Tremor, Cerebral atrophy, Neurodegeneration, Dystonia |
OMIM:300894 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:201100 |
Isolated Atp Synthase Deficiency |
|
Lethargy, Ataxia |
ORPHA:254913 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl... |
OMIM:232220 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Inability to walk, Lethargy, Chorea, Gait ataxia |
OMIM:607483 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria |
ORPHA:79246 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Episodic ataxia, Lethargy, Failure to thrive, Ataxia |
OMIM:311250 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Citrullinemia, Classic |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:215700 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
Propionic Acidemia |
|
Lethargy, Failure to thrive |
OMIM:606054 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Axonal degeneration, Lacticaciduria |
OMIM:618811 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Hepatomegaly, Recurrent urinary tract infections, Neurodegeneration |
OMIM:620210 |
Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Lethargy, Failure to thrive, Small for gestational age, Type I transferrin isoform profile |
OMIM:607143 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Failure to thrive, Small for gestational age |
OMIM:609015 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Cerebral atrophy, Neurodegeneration, Dystonia |
OMIM:272750 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy, Depression |
ORPHA:99832 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy |
ORPHA:156 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... |
OMIM:208540 |
Stt3A-Cdg |
|
Abnormal glycosylation, Failure to thrive |
ORPHA:370921 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Lethargy, Failure to thrive |
OMIM:605711 |
Oculopharyngodistal Myopathy |
|
Loss of ambulation, Difficulty walking, Weight loss |
ORPHA:98897 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
Celiac Disease, Susceptibility To, 1 |
|
Vitamin B12 deficiency, Ataxia, Weight loss, Depression, Reduced blood folate concentration, Low ... |
OMIM:212750 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Lethargy, Increased body weight, Large for gestational age |
ORPHA:263455 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Dysmetria, Gait ataxia, Cerebral atrophy, Dysdiadochokinesis, Neurode... |
OMIM:610217 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Choreoathetosis, Renal tubular acidosis, Organic aciduria, Nonprogressive cer... |
ORPHA:431361 |
Methylcobalamin Deficiency Type Cble |
|
Lethargy, Failure to thrive |
ORPHA:2169 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
Propionic Acidemia |
|
Hepatomegaly, Organic aciduria |
ORPHA:35 |
Stt3B-Cdg |
|
Abnormal glycosylation, Failure to thrive |
ORPHA:370924 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Meningococcal Meningitis |
|
Lethargy, Paresthesia |
ORPHA:33475 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Organic aciduria, Ataxia |
OMIM:614707 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Failure to thrive, Ataxia, Gait disturbance |
ORPHA:395 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Medulloblastoma |
|
Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia associated with qua... |
ORPHA:616 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria |
OMIM:604273 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Abnormal glycosylation, Failure to thrive |
OMIM:615597 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin, Lethargy, Failure... |
OMIM:277400 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy |
OMIM:255120 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Lethargy, Apathy, Weight loss |
ORPHA:465508 |
Alg9-Cdg |
|
Cerebellar atrophy, Hypoplasia of the bladder, Hepatomegaly, Torticollis, Ureteral hypoplasia, Ce... |
ORPHA:79328 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy |
ORPHA:95716 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Chorea, Ataxia, Gait ataxia |
OMIM:618321 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria, Ataxia |
ORPHA:23 |
Classic Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:391 |
Renal Hypoplasia, Bilateral |
|
Lethargy, Failure to thrive, Small for gestational age |
ORPHA:97362 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy |
OMIM:604377 |
Christianson Syndrome |
|
Truncal ataxia, Cachexia, Gait ataxia |
ORPHA:85278 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Necrotizing Enterocolitis |
|
Lethargy, Small for gestational age |
ORPHA:391673 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy |
OMIM:229700 |
Familial Hypoaldosteronism |
|
Lethargy, Failure to thrive |
ORPHA:427 |
Argininosuccinic Aciduria |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:207900 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly |
ORPHA:464329 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria |
OMIM:619003 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Tip-toe gait, Gait disturbance, Weight loss |
ORPHA:216866 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance |
ORPHA:702 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria |
OMIM:619063 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Ataxia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Dystonia, Myoglobinuria |
OMIM:616878 |
Ogden Syndrome |
|
Lethargy, Shuffling gait |
ORPHA:276432 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Choreoathetosis, Lethargy, Athetosis |
OMIM:608643 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Obesity, Abdominal obesity, Lethargy, Failure to thrive |
ORPHA:398079 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Progressive cerebellar ataxia, Lethargy, Failure to thrive, Spastic... |
ORPHA:415 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lethargy, Apathy, Ataxia, Weight loss |
ORPHA:20 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Failure to thrive |
OMIM:210210 |
H Syndrome |
|
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly |
ORPHA:168569 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Overweight, Lethargy, Small for gestational age, Obesity |
ORPHA:26793 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy, Tip-toe gait, Failure to thrive in infancy |
ORPHA:746 |
Dengue Fever |
|
Lethargy |
ORPHA:99828 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria |
ORPHA:6 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... |
OMIM:607459 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Ataxia, Gait ataxia, Bradykinesia, Depression, Gait disturbance, Leth... |
ORPHA:254892 |
Wilson Disease |
|
Increased body weight, Weight loss, Depression, Difficulty walking, Failure to thrive |
ORPHA:905 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Isolated Succinate-Coq Reductase Deficiency |
|
Loss of ambulation, Ataxia, Weight loss |
ORPHA:3208 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Cerebral cortical atrophy, Enlar... |
OMIM:252500 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Impaired pain sensation |
ORPHA:2047 |
Isolated Complex I Deficiency |
|
Lethargy, Failure to thrive, Ataxia |
ORPHA:2609 |
Scrub Typhus |
|
Lethargy |
ORPHA:83317 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia |
ORPHA:97229 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Urinary incontinence, Tremor, Urinary urgency, Neurodegeneration |
OMIM:146500 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Depression, Bradykinesia, Weight loss, Apathy, Shuffling gait |
ORPHA:411602 |
Citrullinemia Type Ii |
|
Lethargy, Mania, Decreased body mass index |
ORPHA:247585 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Lethargy |
OMIM:201475 |
Aspartylglucosaminuria |
|
Abnormality of amino acid metabolism |
ORPHA:93 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Cachexia |
ORPHA:1933 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Focal segmental glomerulosclerosis, Neuronal loss in central nervous system, ... |
OMIM:616239 |
Pseudo-Torch Syndrome 2 |
|
Lethargy |
OMIM:617397 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric acid... |
OMIM:246450 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Biotinidase Deficiency |
|
Lethargy, Ataxia |
OMIM:253260 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Chorea, Ataxia, Cachexia |
ORPHA:52503 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Brain atrophy |
OMIM:214150 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... |
ORPHA:79259 |
Eosinophilic Fasciitis |
|
Paresthesia, Weight loss |
ORPHA:3165 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Lethargy |
OMIM:614922 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Generalized dystonia, Ataxia, Tremor, Neurodegeneration, Dystonia, Oromandibu... |
OMIM:614298 |
Fatal Familial Insomnia |
|
Ataxia, Weight loss |
OMIM:600072 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Ataxia, Lacticaciduria, Dystonia, Left ventricular hypertrophy |
OMIM:619167 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
OMIM:212138 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:71212 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Neurodegeneration |
OMIM:245200 |
Late-Onset Isolated Acth Deficiency |
|
Lethargy, Failure to thrive, Weight loss |
ORPHA:199299 |
Cirrhosis, Familial |
|
Lethargy |
OMIM:215600 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Increased body weight, Abdominal obesity, Lethargy, Failure to th... |
ORPHA:398069 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Staphylococcal Necrotizing Pneumonia |
|
Lethargy |
ORPHA:36238 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Imerslund-Gräsbeck Syndrome |
|
Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level, Weight loss, Malabsorption... |
ORPHA:35858 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
Slc35A2-Cdg |
|
Abnormal glycosylation, Failure to thrive in infancy, Inability to walk, Decreased sialylation of... |
ORPHA:356961 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Glutaric aciduria, Opisthotonus, Choreoathetosis, Dystonia |
OMIM:231670 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Aciduria |
OMIM:617950 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Oromandibular Dystonia |
|
Weight loss, Depression |
ORPHA:93958 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy |
OMIM:253270 |
D-Lactic Aciduria With Gout |
|
Lacticaciduria |
OMIM:245450 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Failure to thrive, Depression |
ORPHA:90674 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Paresthesia, Cachexia, Weight loss |
ORPHA:298 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Ogden Syndrome |
|
Global glomerulosclerosis, Torticollis, Cardiomegaly, Cerebral atrophy, Polycystic kidney dysplas... |
OMIM:300855 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Abnormal glycosylation |
OMIM:616828 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Lethargy, Failure to thrive |
OMIM:620233 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Lethargy, Failure to thrive, Ataxia |
ORPHA:79282 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy |
ORPHA:226316 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
ORPHA:159 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci... |
OMIM:615751 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Lethargy, Failure to thrive, Athetosis, Small for gestational age |
OMIM:614866 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Neurodegeneration |
OMIM:615919 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss |
OMIM:256700 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Decreased circulating vitamin E concentration, Weight loss, Reduced circulating vitamin A concent... |
ORPHA:309031 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Rett Syndrome |
|
Gait apraxia, Truncal ataxia, Cachexia, Gait ataxia |
OMIM:312750 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Ataxia, Cachexia, Inability to walk, Chorea, Tip-toe gait, Difficulty walking |
ORPHA:300605 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Weight loss, Depression |
ORPHA:221098 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy |
OMIM:620306 |
Biotinidase Deficiency |
|
Lethargy, Ataxia |
ORPHA:79241 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Encephalitis Lethargica |
|
Lethargy |
ORPHA:83600 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Abnormality of vitamin metabolism, Weight loss |
ORPHA:95427 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... |
OMIM:309900 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Ebola Hemorrhagic Fever |
|
Lethargy |
ORPHA:319218 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy |
ORPHA:478029 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Fructose Intolerance, Hereditary |
|
Lethargy, Failure to thrive, Fructose intolerance |
OMIM:229600 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Abnormal glycosylation |
OMIM:617395 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive |
ORPHA:1329 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Lethargy, Failure to thrive |
OMIM:617156 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Leigh Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Chorea, Lacticaciduria, Methylmalonic aciduria, Generalized... |
ORPHA:506 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney |
OMIM:306955 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
Chylomicron Retention Disease |
|
Failure to thrive, Impaired proprioception, Abnormality of vitamin metabolism |
ORPHA:71 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Paroxysmal dystonia, Arm dystonia |
ORPHA:79244 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Beta-Ketothiolase Deficiency |
|
Apathy, Ataxia, Weight loss |
ORPHA:134 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy |
ORPHA:90673 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Developmental And Epileptic Encephalopathy 50 |
|
Abnormal glycosylation, Broad-based gait, Failure to thrive |
OMIM:616457 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:252010 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Urinary incontinence, Tremor, Choreoathetosis, Blepharospasm, Neurodegeneration, Dystonia... |
OMIM:234200 |
Pearson Marrow-Pancreas Syndrome |
|
Lethargy, Failure to thrive, Small for gestational age |
OMIM:557000 |
Lynch Syndrome |
|
Weight loss, Gait disturbance, Paresthesia, Depression |
ORPHA:144 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Apathy, Gait disturbance, Difficulty walking, Lethargy |
ORPHA:306674 |
Posterior Urethral Valve |
|
Lethargy |
ORPHA:93110 |
Gm1 Gangliosidosis |
|
Ataxia, Unsteady gait, Weight loss, Gait disturbance, Failure to thrive |
ORPHA:354 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Cholera |
|
Lethargy |
ORPHA:173 |
Glycerol Kinase Deficiency |
|
Lethargy, Small for gestational age |
OMIM:307030 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Giant Cell Arteritis |
|
Weight loss, Ataxia, Paresthesia, Depression |
ORPHA:397 |
Trichinellosis |
|
Lethargy, Apathy |
ORPHA:863 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Lacticaciduria |
OMIM:613070 |
Primary Intestinal Lymphangiectasia |
|
Low levels of vitamin D, Abnormality of vitamin metabolism, Weight loss |
ORPHA:90362 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Familial Colorectal Cancer Type X |
|
Weight loss, Gait disturbance, Paresthesia, Depression |
ORPHA:440437 |
Hurler Syndrome |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... |
OMIM:607014 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Aciduria, Cerebral cortical neurodegeneration, Cerebral... |
OMIM:203700 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Hyperesthesia, Cachexia |
ORPHA:371364 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Refractory Celiac Disease |
|
Low serum calcitriol, Weight loss |
ORPHA:398063 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Neurodegeneration |
OMIM:214500 |
Hereditary Fructose Intolerance |
|
Lethargy |
ORPHA:469 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... |
OMIM:253220 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Ataxia |
OMIM:618476 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Histiocytoid Cardiomyopathy |
|
Lethargy, Failure to thrive |
ORPHA:137675 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Amoebiasis Due To Free-Living Amoebae |
|
Lethargy, Ataxia |
ORPHA:68 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Ataxia, Tremor, Glutaric aciduria, Chorea, Chronic kidney diseas... |
ORPHA:25 |
Whipple Disease |
|
Ataxia, Cachexia, Depression |
ORPHA:3452 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Semilobar Holoprosencephaly |
|
Inability to walk, Depression, Apathy, Lethargy, Failure to thrive |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Inability to walk, Depression, Apathy, Lethargy, Failure to thrive |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Inability to walk, Depression, Apathy, Lethargy, Failure to thrive |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Inability to walk, Depression, Apathy, Lethargy, Failure to thrive |
ORPHA:93924 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Polymyositis |
|
Gait disturbance, Weight loss |
ORPHA:732 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... |
OMIM:312870 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Cerebral Visual Impairment |
|
Central nervous system degeneration, Neurodegeneration |
ORPHA:447788 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Slender build |
OMIM:603041 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus |
OMIM:618280 |
Parenteral Nutrition-Associated Cholestasis |
|
Small for gestational age, Abnormal metabolism |
ORPHA:567983 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Multiple Myeloma |
|
Paresthesia, Abnormality of vitamin B12 metabolism, Weight loss |
ORPHA:29073 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Lethargy |
ORPHA:226307 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Paresthesia, Cachexia |
OMIM:175500 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Hydranencephaly |
|
Lethargy |
ORPHA:2177 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Multiple glomerular cysts, Ataxia, Chorea, Lacticaciduria, Gait ataxia, Dystonia, A... |
ORPHA:255210 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Peripheral Primitive Neuroectodermal Tumor |
|
Somatic sensory dysfunction, Weight loss |
ORPHA:370348 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Primary Sclerosing Cholangitis |
|
Decreased circulating vitamin E concentration, Weight loss, Depression, Reduced circulating vitam... |
ORPHA:171 |
Diamond-Blackfan Anemia |
|
Lethargy, Small for gestational age |
ORPHA:124 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gait disturbance, Weight loss |
ORPHA:183 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Poems Syndrome |
|
Paresthesia, Hyperesthesia, Weight loss |
ORPHA:2905 |
Multiple Endocrine Neoplasia Type 1 |
|
Lethargy, Weight loss, Depression |
ORPHA:652 |
Infantile Krabbe Disease |
|
Hyperesthesia, Failure to thrive, Cachexia |
ORPHA:206436 |
Exercise-Induced Malignant Hyperthermia |
|
Lethargy, Ataxia |
ORPHA:466650 |
Lysinuric Protein Intolerance |
|
Lethargy, Failure to thrive |
ORPHA:470 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy |
OMIM:218700 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Obesity, Cachexia |
ORPHA:85293 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Familial Thrombocytosis |
|
Paresthesia, Weight loss |
ORPHA:71493 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Weight loss |
OMIM:619487 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Weight loss |
ORPHA:679 |
Riddle Syndrome |
|
Ataxia, Gait disturbance, Weight loss |
ORPHA:420741 |
Simple Cryoglobulinemia |
|
Paresthesia, Spontaneous pain sensation, Weight loss |
ORPHA:91139 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ataxia, Weight loss |
ORPHA:99885 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Impairment of galactose metabolism |
OMIM:227810 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
Marburg Hemorrhagic Fever |
|
Dysesthesia, Lethargy |
ORPHA:99826 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Difficulty walking, Weight loss |
OMIM:164310 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Choreoacanthocytosis |
|
Impaired vibratory sensation, Chorea, Depression, Bradykinesia, Weight loss, Apathy, Falls, Self-... |
ORPHA:2388 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Alveolar Echinococcosis |
|
Ataxia, Weight loss |
ORPHA:284 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Isometric tremor, Ataxia, Hypospadias, Head titubation, Hematuria, Neurodegeneration... |
OMIM:619475 |
Erdheim-Chester Disease |
|
Ataxia, Weight loss |
ORPHA:35687 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Neurodegeneration, Hydronephrosis |
OMIM:251260 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Ataxia, Lacticaciduria, Cerebral atrophy, Tubulointerstitial nephritis, Amino... |
OMIM:124000 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Akinesia, Impaired proprioception, Weight loss, Choreoathetosis, Gai... |
ORPHA:3385 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Al Amyloidosis |
|
Weight loss |
ORPHA:85443 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Brucellosis |
|
Small for gestational age, Chorea, Weight loss, Depression, Failure to thrive |
ORPHA:1304 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia |
OMIM:610965 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Behçet Disease |
|
Ataxia, Paresthesia, Gait disturbance, Weight loss |
ORPHA:117 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Mucolipidosis Type Ii |
|
Inability to walk, Weight loss |
ORPHA:576 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Weight loss |
ORPHA:95409 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Eisenmenger Syndrome |
|
Lethargy |
ORPHA:97214 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Q Fever |
|
Weight loss |
ORPHA:781 |
X-Linked Intellectual Disability, Armfield Type |
|
Aminoaciduria, Organic aciduria, Cerebral cortical atrophy, Galactosuria |
ORPHA:85276 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
Schwartz-Jampel Syndrome |
|
Gait disturbance, Cachexia, Decreased body weight |
ORPHA:800 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Lethargy |
ORPHA:447 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Glucagonoma |
|
Weight loss, Depression |
ORPHA:97280 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
Cockayne Syndrome |
|
Somatic sensory dysfunction, Ataxia, Cachexia, Inability to walk, Progressive gait ataxia, Gait d... |
ORPHA:191 |
Camurati-Engelmann Disease |
|
Waddling gait, Slender build, Ataxia, Cachexia |
ORPHA:1328 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Addison Disease |
|
Failure to thrive, Weight loss |
ORPHA:85138 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Weight loss |
ORPHA:50918 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Aicardi-Goutieres Syndrome 7 |
|
Weight loss |
OMIM:615846 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Fanconi Anemia |
|
Weight loss |
ORPHA:84 |
Ppoma |
|
Weight loss |
ORPHA:97278 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Broad-based gait, Limb ataxia |
ORPHA:2072 |
Tsh-Secreting Pituitary Adenoma |
|
Weight loss |
ORPHA:91347 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Weight loss |
OMIM:219800 |
Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:900 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Grfoma |
|
Weight loss |
ORPHA:97261 |
Vipoma |
|
Weight loss |
ORPHA:97282 |
Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Shuffling gait, Weight loss |
ORPHA:740 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
Nijmegen Breakage Syndrome |
|
Cachexia |
ORPHA:647 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity |
ORPHA:99889 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss |
ORPHA:79078 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:90794 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
Primrose Syndrome |
|
Neurodegeneration, Ataxia |
OMIM:259050 |
Sarcoidosis |
|
Weight loss |
ORPHA:797 |
Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |