Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
Intellectual Developmental Disorder, Autosomal Recessive 1 |
|
Increased serum lactate |
OMIM:249500 |
Tiglic Acidemia |
|
Acidosis |
OMIM:275190 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Metabolic acidosis, Increased serum lactate |
OMIM:615158 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hyperchloremic metabolic acidosis, Decreased mean corpuscular volume, Hypokalemia, Short stature,... |
OMIM:611590 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposit... |
ORPHA:85450 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Hypokalemia, Band keratopathy, Short stature, Metabolic acidosis, Proximal renal tubular acidosis... |
OMIM:604278 |
Tricarboxylic Acid Cycle, Defect Of |
|
Persistent lactic acidosis |
OMIM:275370 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Metabolic acidosis, Dehydration, Diarrhea, Vomiting, Hypera... |
OMIM:264350 |
Hypophosphatasia, Infantile |
|
Bowing of the legs, Stillbirth, Metaphyseal cupping, Constipation, Disproportionate short-limb sh... |
OMIM:241500 |
Renal Tubular Acidosis, Proximal |
|
Proximal renal tubular acidosis, Renal tubular acidosis, Hyperchloremic acidosis |
OMIM:179830 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Increased serum lactate, Hyperprolinemia, Lacticaciduria, Lactic acidosis, Hyperalaninemia |
ORPHA:79246 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Ketonuria, Hyperammonemia, Metabolic acidosis, Increased serum lactate, Ketoacidosis, Respiratory... |
OMIM:615751 |
Burkitt Lymphoma |
|
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... |
ORPHA:543 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Metabolic acidosis, Dehydration, Vomiting, Hypercalciuria, Distal renal tubular acid... |
OMIM:602722 |
Succinic Acidemia |
|
Lactic acidosis |
OMIM:600335 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Failure to thrive, Chronic kidney disease, Hypomagnesemia, Feeding difficulties, Polyuria, Leukop... |
OMIM:613845 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperammonemia, Increased serum lactate, Ketoacidosis, Episodic ketoacidosis, Lactic acidosis |
OMIM:615453 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Metabolic acidosis, Increased serum lactate |
OMIM:618252 |
Hsd10 Disease, Neonatal Type |
|
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine |
ORPHA:391457 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Increased sarcoplasmic glycogen, Vomiting, Cholestasis, Hepatocellular ad... |
ORPHA:264580 |
Fanconi-Bickel Syndrome |
|
Growth delay, Hypophosphatemia, Renal tubular acidosis, Hepatomegaly, Increased hepatic glycogen ... |
ORPHA:2088 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Acidosis, Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobu... |
OMIM:137950 |
Acute Adrenal Insufficiency |
|
Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, Increased ... |
ORPHA:95409 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Lactic acidosis |
OMIM:551000 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Metabolic acidosis, Proximal rena... |
ORPHA:427 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Vomiting, Hepatocellular adenoma, Skeletal muscle atrophy, Renal tubular ... |
ORPHA:79240 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrogenic diabetes insipidus, Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrop... |
OMIM:208085 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes... |
OMIM:614732 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Dehydration, Elevated serum 11-... |
ORPHA:556030 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephrogenic diabetes insipidus, Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepa... |
OMIM:613404 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Decreased serum creatinine, Hematuria, Arrhythmia, Myocardial infarction, Renal insuffi... |
ORPHA:54057 |
Addison Disease |
|
Thymoma, Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, H... |
ORPHA:85138 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular... |
OMIM:601678 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Steatorrhea, Diarrhea, Vomiting, Esophageal varix, Weight loss, Jaundice, Feedin... |
ORPHA:275761 |
Dent Disease 1 |
|
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... |
OMIM:300009 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Metabolic alkalosis, Increased circulating renin level, Renal magnes... |
ORPHA:199343 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Hyperammonemia |
OMIM:614111 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Increased sarcoplasmic glycogen, Vomiting, Cholestasis, Hepatocellular ad... |
ORPHA:370 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Dehydration, Vomiting, Increased circulating renin level... |
OMIM:203400 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Increased serum lactate, Episodic vomiting, Cardiomeg... |
ORPHA:255249 |
Juvenile Nephropathic Cystinosis |
|
Metabolic acidosis, Glycosuria, Vomiting, Corneal crystals, Elevated circulating creatinine conce... |
ORPHA:411634 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Abnormality of the peritoneum,... |
ORPHA:26790 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Decreased body weight, Hyperbilirubine... |
ORPHA:1667 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Dehydration, Increased circulat... |
OMIM:610600 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Nephrolithiasis,... |
OMIM:300554 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Acidosis, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556037 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Steatorrhea, Metaboli... |
OMIM:557000 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Hepatomegaly, Hydrops fetalis, Thrombocytopenia, Polyhydramnios, Renal ... |
ORPHA:2123 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
High palate, Constipation, Stage 3 chronic kidney disease, Proximal tubulopathy, Skeletal muscle ... |
OMIM:619743 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy... |
OMIM:601198 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Metabolic acidosis, Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, ... |
OMIM:614723 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Lymphopenia, Gastroesophageal reflux, Petechiae, Sh... |
OMIM:617053 |
3-Hydroxyisobutyric Aciduria |
|
Ketoacidosis, Episodic ketoacidosis, Lactic acidosis, Aminoaciduria |
OMIM:236795 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Dehydra... |
OMIM:607364 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Constipation, Abdominal distention, Abdominal pain, Myeloproliferative disorder, Increased erythr... |
ORPHA:100924 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Abnormal abdomen morphology, Renal tubular dysfunction, Hypophosphatemic... |
OMIM:241530 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Lactic acidosis, 3-Methylglutaconic aciduria |
OMIM:614053 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,... |
OMIM:308990 |
Dent Disease |
|
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Cataract, Prote... |
ORPHA:1652 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Renal agenesis, Short stature, Short femo... |
OMIM:618440 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Failure to thrive, Feeding difficulties, Metabolic acidosis... |
OMIM:177735 |
Shigellosis |
|
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Urethritis, Abscess, Vomiting, Cholest... |
ORPHA:810 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Metabolic acidosis, Hypovolemic shock, Dehydration, Glucoc... |
ORPHA:171876 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Increased serum lactate, Hyperalaninemia, Stage 5 chronic kidney disease |
OMIM:618250 |
Hirschsprung Disease |
|
Constipation, Aganglionic megacolon, Abdominal pain, Short stature, Diarrhea, Intestinal obstruct... |
ORPHA:388 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Renal tubular acidosis, Short stature, Arrhythmia, Lactic acidosis, Renal Fan... |
OMIM:530000 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Failure to thrive, High palate, Hypochromic anemia,... |
OMIM:600462 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Hematuria, Thrombocytopenia, Hypercalcemia, Internal hemor... |
ORPHA:69077 |
Distal Renal Tubular Acidosis |
|
Constipation, Decreased glomerular filtration rate, Diarrhea, Vomiting, Decreased serum bicarbona... |
ORPHA:18 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Increased serum lactate, Proximal renal tubular acidosis, Increased serum pyruvate,... |
OMIM:266150 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Metabolic acidosis, Glycosuria, Hematuria, Corne... |
OMIM:219800 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Diarrhea, Elevated circulating creatine kin... |
OMIM:255120 |
Wolman Disease |
|
Adrenal insufficiency, Abdominal distention, Hepatomegaly, Splenomegaly, Hepatic failure, Steator... |
ORPHA:75233 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Constipation, Hypokalemic alkalosis, Polyuria, Hypocalciuria, Noctur... |
OMIM:263800 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Aminoaciduria, Increased serum pyruvate, Chronic la... |
OMIM:603358 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Hypokalemic alkalosis, Vomiting, Increased circula... |
OMIM:241150 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome... |
OMIM:618892 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Vomiting, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Nephrocalci... |
OMIM:239199 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Increased serum lactate |
OMIM:614055 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Hypergonadotropic hypogonadism, Diarrhea, Vomiting, Weight loss, Ga... |
ORPHA:298 |
Galactosemia I |
|
Hyperchloremic metabolic acidosis, Increased level of galactitol in urine, Decreased liver functi... |
OMIM:230400 |
Wilson Disease |
|
Hepatomegaly, Glycosuria, Vomiting, Pedal edema, Esophageal varix, Proteinuria, Limb muscle weakn... |
OMIM:277900 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Increased serum lactate |
OMIM:618855 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Short stature, Polyuria, Hypocalciuria, Hypokalemic metabolic alkalo... |
OMIM:612780 |
Proximal Renal Tubular Acidosis |
|
Band keratopathy, Mild postnatal growth retardation, Hyperuricosuria, Diarrhea, Glycosuria, Vomit... |
ORPHA:47159 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated lactate:pyruvate ratio, Steatorrhea, Co... |
ORPHA:699 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Renal insufficiency, Proteinuria, Hypercalcemia, Glomerulopathy, Hyperparathyroidism, ... |
ORPHA:2668 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... |
OMIM:300555 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... |
OMIM:613673 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Increased serum lactate |
OMIM:615395 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Stomach cancer, Abnormality of the ureter, Neoplasm of the small intestin... |
ORPHA:2869 |
Glucagonoma |
|
Hepatomegaly, Constipation, Steatorrhea, Adrenocortical adenoma, Diarrhea, Increased circulating ... |
ORPHA:97280 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular... |
OMIM:241200 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Vomiting, Inc... |
ORPHA:289548 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Int... |
OMIM:243150 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Renal tubular acidosis, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Increased serum lac... |
OMIM:615471 |
Hyperparathyroidism, Neonatal Severe |
|
Metaphyseal irregularity, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Constipation, Splenomega... |
OMIM:239200 |
Hereditary Coproporphyria |
|
Dark urine, Abdominal pain, Small intestinal dysmotility, Increased urinary porphobilinogen, Neph... |
ORPHA:79273 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Increased serum lactate, Lactic acidosis |
OMIM:616111 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Vomiting, Inc... |
ORPHA:168558 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... |
OMIM:602522 |
Gitelman Syndrome |
|
Graves disease, Constipation, Metabolic alkalosis, Diarrhea, Type I diabetes mellitus, Proteinuri... |
ORPHA:358 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Metabolic alkalosis, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxi... |
ORPHA:251274 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Hepatomegaly, Increased serum lactate, Renal dysplasia, Renal cyst, Renal... |
OMIM:614922 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Impaired renal concentrating ability, Hyperprostaglandinuri... |
ORPHA:89938 |
Late-Onset Isolated Acth Deficiency |
|
Graves disease, Constipation, Decreased circulating cortisol level, Diarrhea, Macrocytic anemia, ... |
ORPHA:199299 |
Porphyria Variegata |
|
Ileus, Chronic kidney disease, Constipation, Inappropriate antidiuretic hormone secretion, Abdomi... |
ORPHA:79473 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Hypop... |
ORPHA:157215 |
Castleman Disease |
|
Decreased mean corpuscular volume, Abdominal distention, Elevated circulating C-reactive protein ... |
ORPHA:160 |
Somatostatinoma |
|
Medullary thyroid carcinoma, Hepatomegaly, Constipation, Steatorrhea, Adrenocortical adenoma, Dia... |
ORPHA:97283 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Increased serum lactate, Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Aminoaciduria, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Proximal tu... |
OMIM:612075 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Acidosis, Abdominal distention, Leukocytosis, Small for gestational age, Metabol... |
ORPHA:391673 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Polyhyd... |
OMIM:613090 |
Alg8-Cdg |
|
Failure to thrive, Feeding difficulties, Small for gestational age, Macroglossia, Cutis laxa, Dia... |
ORPHA:79325 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Aphthous ulcer, I... |
OMIM:266600 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Riboflavin Deficiency |
|
Metabolic acidosis, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lact... |
OMIM:615026 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice, Myopathy |
ORPHA:33574 |
Hawkinsinuria |
|
Metabolic acidosis, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruvic aciduria,... |
ORPHA:2118 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum lactate |
OMIM:619062 |
Say Syndrome |
|
Short distal phalanx of finger, Cleft palate, Short stature, Proximal renal tubular acidosis, Uln... |
OMIM:181180 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Short stature, Metabolic acidosis, Osteopenia, Av... |
OMIM:611555 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia,... |
ORPHA:156 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated lactate:pyruvate ratio, Metabolic acidosis, Elevated urinary 4-hydroxybutyric acid, Hype... |
OMIM:619003 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hypokalemia, Abdominal distention, Metab... |
OMIM:214700 |
Tyrosinemia, Type I |
|
Melena, Hepatomegaly, Metabolic acidosis, Enlarged kidney, Hypermethioninemia, Gastrointestinal h... |
OMIM:276700 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis... |
ORPHA:766 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Elevated circulating parathyroid ... |
ORPHA:99879 |
Alagille Syndrome 2 |
|
Cholestatic liver disease, Renal tubular acidosis, Pulmonic stenosis, Posterior embryotoxon, Hema... |
OMIM:610205 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Metabolic acidosis, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circula... |
OMIM:613677 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Metabolic acidosis, Diarrhea, Elevated circulating thyroi... |
ORPHA:94086 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Dehydration, Vomiting, Hyper... |
OMIM:143880 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, In... |
OMIM:274150 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Hypokalemia, Metabolic alkalosis, Intracranial hemorrhage, Adrenal hyperplasia, ... |
ORPHA:369929 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Pancreatitis, Hemoglobinuria, Diarrhea, Vomiting, Schistocytosis, Colonic stenosis, Elevated circ... |
ORPHA:90038 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Cheilitis, Constipation, Hypoammonemia, Abno... |
ORPHA:534 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Metabolic acidosis, Proximal renal tubular acidosis, Increased serum lacta... |
OMIM:615824 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... |
OMIM:616963 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Short stature, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:613388 |
Glutathione Synthetase Deficiency |
|
Chronic metabolic acidosis |
ORPHA:32 |
Central Diabetes Insipidus |
|
Failure to thrive, Anorexia, Diarrhea, Nocturia, Weight loss, Hyponatremia, Nausea and vomiting, ... |
ORPHA:178029 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cachexia, Stomach cancer, Di... |
ORPHA:2930 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Pulmonary edema, Abnormal renal tubular res... |
ORPHA:73224 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Hypophosphatemia, Clinodactyly of the 5th finger, Metaphysea... |
OMIM:156400 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Metabolic acidosis, Left ventricular hypertrophy, Increased ser... |
OMIM:617713 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Diarrhea, Erythema, Vomiting, Gingival bleeding,... |
ORPHA:449285 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Leigh Syndrome |
|
Multiple joint contractures, Cataract, Gastrointestinal dysmotility, Skeletal muscle atrophy, Int... |
ORPHA:506 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Splenomegaly, Abnormality of tibia morphology, Diaphyseal thicke... |
ORPHA:1802 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... |
OMIM:248250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, High palate, Hepatomegaly, Aminoaciduria, Hypertrophic cardiomyopathy,... |
OMIM:220110 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Hepatomegaly, Aminoaciduria, Hypertrophic cardiomyopathy, Skeletal mus... |
ORPHA:436271 |
Ppoma |
|
Cholelithiasis, Hepatomegaly, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Diarrhe... |
ORPHA:97278 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Metabolic alkalosis, Increased circu... |
ORPHA:231625 |
Grfoma |
|
Cholelithiasis, Hepatomegaly, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Diarrhe... |
ORPHA:97261 |
Leishmaniasis |
|
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Anorexia, Pallor, Leukopenia, Abnorm... |
ORPHA:507 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Hyperchloremic metabolic acidosis, Abnormal cornea morphology, Acidosi... |
ORPHA:411629 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Acute hepatic failure, Cirrhosis, Peri... |
ORPHA:131 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Metabolic acidosis, Increased serum lactate, ... |
OMIM:619386 |
Hypervitaminosis A, Susceptibility To |
|
Nausea, Renal insufficiency, Hypercalcemia, Ascites, Abnormality of the liver |
OMIM:240150 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Malabsorption, Abdominal pain, Anorexia, Cachexia, Dia... |
OMIM:175500 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Metabolic acidosis, Increased serum lactate, Feeding difficulties in infancy, ... |
OMIM:610090 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Leukocytosis, Abdominal pain, Diarrhea, Intestinal obstruction, P... |
ORPHA:67 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Metabolic acidosis, Increased serum pyruvate, Increased serum lactate, Elevated c... |
OMIM:615160 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Metabolic ketoacidosis, Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemi... |
ORPHA:263455 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... |
ORPHA:913 |
Osteopetrosis With Renal Tubular Acidosis |
|
High palate, Hepatomegaly, Metabolic acidosis, Pancytopenia, Bone marrow hypocellularity, Nephrol... |
ORPHA:2785 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Increased serum lactate, Lactic acidosis, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:618416 |
Apparent Mineralocorticoid Excess |
|
Intrauterine growth retardation, Decreased circulating aldosterone level, Hypokalemia, Short stat... |
ORPHA:320 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Hepatomegaly, Abdominal pain, Hypoproteinemia, Diarrhea, Vomiting, Iron deficiency... |
OMIM:226300 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Osteomalacia, Distal renal tubular acidosis, Elevated... |
OMIM:179800 |
Gaisböck Syndrome |
|
Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Hyperproteinemia,... |
ORPHA:90041 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Metabolic acid... |
ORPHA:26792 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Metabolic acidosis, Glycosuria, Low-molecular-weight proteinuria, Elevated circula... |
OMIM:615605 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Constipation, Abdominal pain, Splenomegaly, Increased urinary porphobilinogen, Elev... |
OMIM:121300 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Abdominal pain, Splenomegaly, Anorexia, Diarrhea, Hematuria, Hepatitis... |
ORPHA:549 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Hyperlysinemia, Pancreatitis, Renal tubular acidosis, Abnormal circulating carnitine concentratio... |
ORPHA:431361 |
Propionic Acidemia |
|
Neutropenia, Hyperglycinuria, Hepatomegaly, Pancreatitis, Constipation, Metabolic acidosis, Hyper... |
OMIM:606054 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Short stature, Abnormality of the uri... |
ORPHA:2204 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Intrauterine growth retardation, Hepatomegaly, Metabolic acidosis, Left ventricular hypertrophy, ... |
OMIM:619048 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Primary Fanconi Renotubular Syndrome |
|
Hyperuricosuria, Glycosuria, Renal sodium wasting, Stage 5 chronic kidney disease, Hypouricemia, ... |
ORPHA:3337 |
Whipple Disease |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cachexia, Diarrhea, Mediasti... |
ORPHA:3452 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Anorexia, Hepa... |
ORPHA:824 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Odynophagia, Hemoglobinuria, Glycosuria, Myocardial infarction, Proteinuria, Reduced haptoglobin ... |
ORPHA:447 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Growth delay, Constipation, Macroglossia, Impaired sensitivity to thyroid hormone, Increased body... |
OMIM:614450 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ... |
OMIM:267700 |
Andersen-Tawil Syndrome |
|
High palate, Bidirectional ventricular ectopy, Prolonged QT interval, Renal tubular dysfunction, ... |
ORPHA:37553 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Metabolic acidosis, Pallor, Vomiting, Or... |
OMIM:246450 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, Short stature, Macros... |
ORPHA:251004 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased muscle glycogen content, Reduced erythrocyte 2,3-diphosphoglycerate con... |
OMIM:232800 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormality of acid-ba... |
ORPHA:31824 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Short stature, Metabolic acidosis, Muscular dystrophy, Episodic vomiting, ... |
OMIM:307030 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu... |
OMIM:613662 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Acidosis |
OMIM:204730 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Abnormality of the dentition, Diarrhea, Abnormal... |
ORPHA:231226 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Metabolic acidosis, Elevated circulating palmitoleylcarnitine concentration, Methylmal... |
OMIM:251120 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormality of the lymph nodes |
ORPHA:33111 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Metabolic acidosis, Hyperalaninemia |
ORPHA:2597 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Decreased prealbumin level, Vomiting, Type I diabetes melli... |
ORPHA:37042 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Metabolic alkalosis, Diarrhea, Esophageal varix, Weight loss, Poor appetite, Jaundi... |
ORPHA:88673 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Metabolic acidosis, Increased serum pyruvate, Hyperprolinemia, I... |
OMIM:619046 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ... |
ORPHA:231214 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Rhabdomyolysis, Renal insufficiency, Exercise-induced myoglobinuria, Myopathy, ... |
OMIM:300653 |
Glycogen Storage Disease 0, Liver |
|
Increased serum lactate |
OMIM:240600 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Metabolic alkalosis, Increased urinary potassium, Palpitations, Adrenal hyperplasia,... |
ORPHA:231580 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Polyhydramnios, Hyponat... |
OMIM:300971 |
Idiopathic Hypercalciuria |
|
Renal calcium wasting, Osteopenia, Calcium oxalate nephrolithiasis, Osteoporosis, Hypercalciuria |
ORPHA:2197 |
Alpha-Methylacetoacetic Aciduria |
|
Episodic ketoacidosis |
OMIM:203750 |
Hawkinsinuria |
|
Metabolic acidosis, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic acid... |
OMIM:140350 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... |
ORPHA:189427 |
Sheehan Syndrome |
|
Constipation, Central adrenal insufficiency, Decreased circulating cortisol level, Central diabet... |
ORPHA:91355 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased serum lactate, Lactic acidosis |
OMIM:614096 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Increased serum lactate, Exercise-induced lactic acidemia, 3-Methylg... |
OMIM:212350 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Metabolic acidosis |
OMIM:618235 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Tracheoesophageal fistula, Abnormality of the kidney, Gingival fibromat... |
ORPHA:2591 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Intrauterine grow... |
ORPHA:53693 |
Aredyld Syndrome |
|
Narrow mouth, Type II diabetes mellitus, Hepatomegaly, Craniofacial hyperostosis, Splenomegaly, S... |
ORPHA:1133 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic glycogen content, Ab... |
ORPHA:369 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ... |
OMIM:619350 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis, Hyperammonemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Anemia |
OMIM:616457 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... |
OMIM:615631 |
Sialidosis Type 2 |
|
Corneal opacity, Hepatomegaly, Flexion contracture, Splenomegaly, Short stature, Hydrops fetalis,... |
ORPHA:87876 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Short stature, Increased serum lactate, Proximal muscle weakness in lower limbs, Elevated circula... |
OMIM:616209 |
Panhypophysitis |
|
Decreased circulating cortisol level, Increased circulating prolactin concentration, Central diab... |
ORPHA:95513 |
Cystinosis |
|
Renal tubular dysfunction, Malabsorption, Corneal opacity, Nephrogenic diabetes insipidus, Aminoa... |
ORPHA:213 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Abnormal intestine morphology, D... |
ORPHA:70482 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Hepatomegaly, Abdominal distention, Abdominal pain, Cachexia, Me... |
ORPHA:83469 |
Blue Diaper Syndrome |
|
Abnormal abdomen morphology, Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan con... |
OMIM:211000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Ketoacidosis, 3-Methylglutaco... |
OMIM:618120 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytop... |
OMIM:304790 |
Sepsis In Premature Infants |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Metabolic acidosis, Diarrhea... |
ORPHA:90051 |
Cholera |
|
Abdominal cramps, Abnormality of renal excretion, Hypokalemia, Hypocalcemia, Abdominal pain, Acid... |
ORPHA:173 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abdominal cramps, Pancreatitis, Diarrhea, Vomiting, Decreased urine output, Anuria, Bloody diarrh... |
ORPHA:544482 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Severe intrauterine growth retardation, Hypocalcemia, Hypoplasia of penis, Sh... |
ORPHA:2323 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ... |
OMIM:603553 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Decreased hemoglobin concentration, Myoglobinuria, Hemolytic anemia, Rhabdomy... |
ORPHA:713 |
Leigh Syndrome With Cardiomyopathy |
|
Renal tubular acidosis, Abnormal renal tubule morphology, Renal agenesis, Increased serum lactate... |
ORPHA:70474 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Weight loss, Anemia, Thrombocytopenia, Abnormality of the gin... |
ORPHA:517 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Metabolic acidosis, Tachycardia, Hypotension, Abnormal circulating trypto... |
ORPHA:79155 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Lactic acidosis, Alaninuria |
OMIM:202900 |
Igg4-Related Aortitis |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Intestinal obstruction, Hy... |
ORPHA:449400 |
Familial Mediterranean Fever |
|
Malabsorption, Nephrotic syndrome, Pancreatitis, Constipation, Abdominal pain, Splenomegaly, Acut... |
ORPHA:342 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... |
OMIM:619991 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu... |
OMIM:612286 |
Isolated Glycerol Kinase Deficiency |
|
Short stature, Metabolic acidosis, Elevated circulating creatine kinase concentration, Osteoporos... |
ORPHA:408 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Majeed Syndrome |
|
Failure to thrive, Malabsorption, Hepatomegaly, Leukocytosis, Splenomegaly, Congenital hypoplasti... |
ORPHA:77297 |
Acute Intermittent Porphyria |
|
Dark urine, Dysuria, Ileus, Constipation, Abdominal distention, Abdominal pain, Pseudobulbar para... |
ORPHA:79276 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Growth delay, Hepatomegaly, Abdominal pain, Peritonitis, Diarrhea, Erythema, Intestinal obstructi... |
ORPHA:343 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Multiple Endocrine Neoplasia Type 2 |
|
Medullary thyroid carcinoma, Constipation, Cervical lymphadenopathy, Elevated circulating parathy... |
ORPHA:653 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Increased bone mineral density, Short stature, Osteopenia, Hydroxyprolinemia, ... |
OMIM:239000 |
Combined Oxidative Phosphorylation Deficiency 43 |
|
Gastroesophageal reflux, Small for gestational age, Projectile vomiting, Increased serum lactate,... |
OMIM:618851 |
Glycogen Storage Disease Xi |
|
Increased serum lactate, Increased serum pyruvate, Elevated circulating creatine kinase concentra... |
OMIM:612933 |
Mitochondrial Myopathy, Infantile, Transient |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Macroglossia, Increased serum lactate, Inc... |
OMIM:500009 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Constipation, Pallor, Anisopoikilocytosis, ... |
ORPHA:35858 |
Vici Syndrome |
|
High palate, Renal tubular acidosis, Short stature, Cataract, Ureteral atresia, Cardiomyopathy |
ORPHA:1493 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Goiter, Hypothyroidism, Hashimoto thyroiditis, Hyponatremia, Nausea and vomiting, T... |
ORPHA:83601 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Malabsorption, Sinusitis, Gastroesophageal reflux, Abdominal pain, Eosinophilia, Hematuria, Glome... |
ORPHA:183 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Hypocalcemia, Short stature, Short 5th finger, Hypoplasia of the capital f... |
ORPHA:557003 |
Lactase Deficiency, Congenital |
|
Metabolic acidosis |
OMIM:223000 |
Acute Peripheral Arterial Occlusion |
|
Pallor, Acidosis, Leukocytosis |
ORPHA:90064 |
Secondary Intestinal Lymphangiectasia |
|
Malabsorption, Intestinal bleeding, Lymphopenia, Reduced circulating transferrin concentration, I... |
ORPHA:90363 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Acidosis, Hepatomegaly, Leukocytosis, Hyperammonemia, Anorexia, Metabolic acidosis, In... |
ORPHA:134 |
Sulfide:Quinone Oxidoreductase Deficiency |
|
Lactic acidosis, Elevated circulating creatine kinase concentration |
OMIM:619221 |
Immunodeficiency 19 |
|
Failure to thrive, Diarrhea, Lymphopenia |
OMIM:615617 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Nephrolithiasis, Renal tubular acidosis |
OMIM:267300 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Episodic ammonia intoxication, Hypoargininemia, Aminoaciduria, Hyperammonemia |
ORPHA:147 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Feeding difficulties, Splenomegaly, Weight loss, Growth delay, Nause... |
ORPHA:79238 |
Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Short stature, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomeg... |
OMIM:259730 |
Secondary Short Bowel Syndrome |
|
Constipation, Steatorrhea, Small intestinal dysmotility, Diarrhea, Vomiting, Cholestasis, Weight ... |
ORPHA:95427 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... |
OMIM:193250 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Hypocalcemia, Cystinuria, Hypogonadism, Growth delay, Lactic acidosis |
ORPHA:163693 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Hypertension, Diarrhea, Schistocytosis, Elevated c... |
OMIM:235400 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Parathyroid carcinoma, Osteopenia, Primary hyperparathyroidism, Hypercalcemia |
OMIM:617343 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Hypokalemia, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrocal... |
OMIM:267200 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Hypocalcemia, Cystinuria, Decreased response to growth hormone stimulation test,... |
OMIM:606407 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Failure to thrive, Gastroesophageal reflux, Feeding difficulties |
OMIM:618426 |
3-Methylglutaconic Aciduria Type 4 |
|
Lactic acidosis, Iris hypopigmentation, 3-Methylglutaconic aciduria, Cataract, Thrombocytopenia, ... |
ORPHA:67048 |
Neuroleptic Malignant Syndrome |
|
Metabolic acidosis, Vomiting, Proteinuria, Hyperuricemia, Hyperhidrosis, Myoglobinuria, Elevated ... |
ORPHA:94093 |
Sulfite Oxidase Deficiency, Isolated |
|
Metabolic acidosis, Episodic vomiting, Elevated circulating creatine kinase concentration, Decrea... |
OMIM:272300 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly |
OMIM:612126 |
Primary Hyperoxaluria |
|
Intermittent claudication, Chronic kidney disease, Raynaud phenomenon, Metabolic acidosis, Calciu... |
ORPHA:416 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Transient aminoaciduria, Hepatomegaly, Hyperbilirubinemia, Metabolic acidosis, ... |
OMIM:229600 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephro... |
OMIM:145001 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... |
ORPHA:276621 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity, Bilateral renal atrophy, Congenital diaphragmatic hernia, Metatarsal osteolysis,... |
OMIM:166300 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Anemia, Pallor, Splenomegaly |
ORPHA:75563 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Diarrhea, T lymphocytopenia, Oral ulcer, Fai... |
OMIM:608971 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Increased serum lactate |
OMIM:301020 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Grow... |
ORPHA:100025 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Abdominal cramps, Constipation, Diarrhea, Vomiting, Elevated circulating thymidine concentration,... |
OMIM:603041 |
Hypophosphatasia |
|
Craniosynostosis, Short stature, Bowing of the long bones, Hypercalcemia, Abnormal metaphysis mor... |
ORPHA:436 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Vomiting, Hypergalactosemia, Galact... |
OMIM:230350 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating tyrosine concentration, Failure to thrive, Feeding difficulties, Metabolic a... |
ORPHA:79096 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... |
ORPHA:100083 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Metabolic ketoacidosis, Pancreatitis, Hepatomegaly, Episodic metabolic acidosis, Hyperammonemia, ... |
OMIM:251000 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Diarrhea, Elevated circulating ... |
ORPHA:42 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Ketonuria, Neutropenia, Hepatomegaly, Hyperammonemia, Metabolic acidosis, Meth... |
OMIM:251110 |
Leprechaunism |
|
Severe intrauterine growth retardation, Hyperinsulinemia, Hepatomegaly, Hypokalemia, Postnatal gr... |
ORPHA:508 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Mild postnatal growth retardat... |
OMIM:224120 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... |
ORPHA:731 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemoglo... |
OMIM:194380 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Decreased liver function, Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Incre... |
OMIM:616974 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Metabolic alkalosis, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulat... |
ORPHA:404 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hyponatremia, Hyperkalemia, Ren... |
OMIM:614736 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphoc... |
OMIM:600802 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Multiple Myeloma |
|
Nephrotic syndrome, Splenomegaly, Osteopenia, Hyperproteinemia, Nephropathy, Elevated circulating... |
ORPHA:29073 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Metabolic acidosis, Increased serum lactate, Macrovesicular hepatic steatosis, Oste... |
OMIM:618234 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Sinusitis, Abnormality of the thyroid gland, Abdominal distention, Constipation,... |
ORPHA:442 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum lactate, Increased serum pyruvate, Lactic acidosis, Organic aciduria |
OMIM:614741 |
Desmoid Tumor |
|
Malabsorption, Abdominal pain, Desmoid tumors, Abnormality of the upper urinary tract, Intestinal... |
ORPHA:873 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Abnormal proportion of naive CD4 T cells, Abnormal femoral head morphology, Disprop... |
ORPHA:1830 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Increased serum lactate, Lactic acidosis, Growth delay, Anemia, Thrombocytopenia |
OMIM:614946 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Acidosis, Hypokalemia, Aminoaciduria, Hypophosphatemia, Glycosuria, Re... |
OMIM:134600 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Gastrointestina... |
ORPHA:44890 |
Combined Malonic And Methylmalonic Acidemia |
|
Acidosis, Dehydration, Methylmalonic aciduria, Vomiting, Dicarboxylic aciduria, Ketoacidosis, Int... |
ORPHA:289504 |
Isovaleric Acidemia |
|
Hyperglycinuria, Cerebellar hemorrhage, Metabolic acidosis, Dehydration, Leukopenia, Vomiting, Ke... |
OMIM:243500 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hepatomegaly, Splenomegaly, Pallor, Diarrhea, Hemolytic anemia, Nausea an... |
ORPHA:56425 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Flexion contracture, Micropenis, Hypertrophic cardiomyopathy, Hypospadias, Hydro... |
OMIM:618815 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Renal salt wasting |
OMIM:613743 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatitis, Constipation, Elevated circulating parathyroid hormone level, Nephrolithiasis, Thyr... |
ORPHA:99880 |
Cardiomyopathy, Dilated, 2C |
|
Increased serum lactate |
OMIM:618189 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hematuria, Proteinuria, Adrenal pheochromocytoma, Elevated urinary epinephrine, Cerebral hemorrha... |
ORPHA:29072 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Metabolic acidosis, Lactic acidosis, Increased serum lactate |
ORPHA:91130 |
Diabetes Mellitus, Ketosis-Prone |
|
Ketoacidosis |
OMIM:612227 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Ketonuria, Neutropenia, Hepatomegaly, Hyperammonemia, Metabolic acidosis, Meth... |
OMIM:251100 |
Marburg Hemorrhagic Fever |
|
Odynophagia, Pancreatitis, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Ret... |
ORPHA:99826 |
Alagille Syndrome 1 |
|
Exocrine pancreatic insufficiency, Band keratopathy, Reduced number of intrahepatic bile ducts, M... |
OMIM:118450 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated lactate:pyruvate ratio, Metabolic acidosis, Increased serum lactate, Ketoacidosis, Tubul... |
OMIM:614582 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Hyperphosphatemia, P... |
ORPHA:2239 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Short stature, Increased serum lactate, Weakness of facial musculature, Proximal muscle weakness ... |
ORPHA:457050 |
Liddle Syndrome 1 |
|
Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Hypokalemic alkalosis,... |
OMIM:177200 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, 3-Methylglutaric aciduria, Metabo... |
ORPHA:26791 |
Parathyroid Carcinoma |
|
Pancreatitis, Constipation, Elevated circulating parathyroid hormone level, Nephrolithiasis, Thyr... |
ORPHA:143 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Restrictive cardiomyopathy, Osteopenia, Ureteral stenosis, Hypercalciuria, Osteoporo... |
OMIM:615398 |
Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cortex of bones, Abno... |
ORPHA:564003 |
Lactic Acidosis, Chronic Adult Form |
|
Chronic lactic acidosis |
OMIM:150170 |
Hypophosphatemic Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalciuria, Bowing of the long bones, Renal ph... |
ORPHA:437 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hypogonadotropic hypogon... |
ORPHA:848 |
Congenital Erythropoietic Porphyria |
|
Corneal ulceration, Anisocytosis, Osteopenia, Nonimmune hydrops fetalis, Osteolysis, Reduced hapt... |
ORPHA:79277 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Elevated creatine kinase after exercise, Exercise-induced rhabdomyolysis,... |
ORPHA:284426 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Multiple Endocrine Neoplasia Type 1 |
|
Thymoma, Melena, Increased serum serotonin, Pituitary growth hormone cell adenoma, Constipation, ... |
ORPHA:652 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Metabolic acidosis, Polyuria, Hematochezia, Hypothyroidism, Hypertr... |
OMIM:618183 |
Retinohepatoendocrinologic Syndrome |
|
Pallor, Maturity-onset diabetes of the young, Degenerative liver disease, Elevated circulating cr... |
OMIM:268040 |
Cog7-Cdg |
|
Failure to thrive, Narrow mouth, Hepatomegaly, Feeding difficulties, Small for gestational age, E... |
ORPHA:79333 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hepatomegaly, Feeding diffi... |
ORPHA:2394 |
Reticular Dysgenesis |
|
Failure to thrive, Malabsorption, Leukopenia, Diarrhea, Abnormality of neutrophils, Weight loss, ... |
ORPHA:33355 |
Myopathy With Lactic Acidosis, Hereditary |
|
Increased serum lactate, Palpitations, Myoglobinuria, Elevated circulating creatine kinase concen... |
OMIM:255125 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia |
OMIM:238750 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Abdominal pain, Hypoproteinemia, Lym... |
OMIM:615895 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, Aminoaciduria, EMG: myopathic abnormalities, Elevated circulating creatine kinas... |
OMIM:609560 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Vomiting, Primary adrenal insufficiency, Hypogo... |
OMIM:617872 |
Lowe Oculocerebrorenal Syndrome |
|
Constipation, Genu valgum, Proteinuria, Osteomalacia, Hip dislocation, Hyperphosphaturia, Elevate... |
OMIM:309000 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Feeding difficulties, Small for gestational age, Metabolic acidosis, Increased... |
OMIM:614702 |
Renpenning Syndrome |
|
Anal atresia, Narrow mouth, Severe short stature, High, narrow palate, Cleft palate, Malar flatte... |
ORPHA:3242 |
Fumarase Deficiency |
|
High palate, Failure to thrive, Hyperbilirubinemia, Aminoaciduria, Hepatic failure, Polycythemia,... |
OMIM:606812 |
Ring Chromosome 10 Syndrome |
|
Renal hypoplasia/aplasia, Hypocalcemia, Thin vermilion border, Cachexia, Micrognathia, Long philt... |
ORPHA:1438 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Gastroesophageal reflux, High, narrow palate, Congenital ... |
ORPHA:369837 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... |
ORPHA:209964 |
X-Linked Creatine Transporter Deficiency |
|
Ileus, Constipation, Malar flattening, Short stature, Open mouth, Cachexia, Redundant skin, Abnor... |
ORPHA:52503 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Radial bowing, Hypercalciuria |
OMIM:617993 |
Alg12-Cdg |
|
Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Micropenis, Intestinal malrotat... |
ORPHA:79324 |
Mulibrey Nanism |
|
Cachexia, Hepatomegaly, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Metabolic alkalosis, Renal cortical adenoma, Nausea, Decreased circulating renin lev... |
ORPHA:231632 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Apnea, Central Sleep |
|
Lactic acidosis, Urinary incontinence |
OMIM:207720 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Diarrhea, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentrat... |
ORPHA:247598 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Nephrogenic diabetes insipidus, Constipation, Feeding difficulties, Short stat... |
ORPHA:223 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary... |
OMIM:248190 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia |
ORPHA:139436 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Decreased hemoglobin... |
OMIM:266200 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Feeding difficulties |
OMIM:143860 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Developmental And Epileptic Encephalopathy 53 |
|
Increased serum lactate |
OMIM:617389 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Malabsorption, Abdominal pain, Hypoproteinemia, I... |
ORPHA:398063 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypokalemia, Metabolic alkalosis, Left ventricular hypertrophy, Decreased circul... |
OMIM:615474 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Hyperaldosteronism, Familial, Type I |
|
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... |
OMIM:103900 |
Variegate Porphyria |
|
Constipation, Abdominal pain, Increased urinary porphobilinogen, Elevated urinary delta-aminolevu... |
OMIM:176200 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Metabolic acidosis, Lactic acidosis, Increased serum lactate, Hyperammonemia |
OMIM:610678 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Episodic metabolic acidosis, Flexion contracture, Cardiomyopathy, Facial palsy, Ethylmalonic acid... |
OMIM:201470 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria, Lactic acidosis, Neonatal death, Hypertrophic cardiomyopathy |
OMIM:617184 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Constipation, Short stature, Metabolic acidosis, M... |
OMIM:248360 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Short stature, Pallor, Anisocytosi... |
ORPHA:98870 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum lactate, Increased serum pyruvate, Elevated circulating creatine kinase concentra... |
ORPHA:2364 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Edema, Hypoalbuminemia, Hyperten... |
OMIM:603278 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Failure to thrive, Abdominal distention, Diarrhea, Hematuria, Vomiting, Hypernat... |
ORPHA:35710 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Malabsorption, Abdominal distention, Metabolic acidosis, Glycosuria, Chronic d... |
OMIM:606824 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... |
OMIM:300539 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Abnormal renal tubule morphology, Metabolic acidosis, Increased seru... |
OMIM:611719 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Pheochromocytoma, Tachycardia, Episodic hyp... |
OMIM:171420 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Metabolic acidosis |
OMIM:301021 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... |
ORPHA:417 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati... |
OMIM:145981 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... |
ORPHA:293978 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Constipation, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, ... |
ORPHA:32960 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, 3-Methylglutaric aciduria, Leukocytos... |
ORPHA:20 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Short stature, Metabolic acidosis, Glycosuria, Pro... |
OMIM:616026 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Fulminant hepatic failure, Hepatomegaly, Feeding difficulties, Elevated lactate:pyruvate ratio, M... |
OMIM:609060 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Nephrotic syndrome, Decreased level of coenzyme Q10 in skeletal muscle, ... |
OMIM:607426 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Choles... |
ORPHA:172 |
Granulomatosis With Polyangiitis |
|
Pancreatitis, Elevated circulating C-reactive protein concentration, Hematuria, Proteinuria, Skin... |
ORPHA:900 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... |
OMIM:618963 |
Maternally-Inherited Diabetes And Deafness |
|
Malabsorption, Type II diabetes mellitus, Constipation, Abnormal circulating lipid concentration,... |
ORPHA:225 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Cone-shaped epiphyses of the distal phalanges of the hand, Metabolic acidosis, Incr... |
OMIM:618958 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Hemolytic anemia, H... |
OMIM:245900 |
Lcat Deficiency |
|
Corneal opacity, Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI co... |
ORPHA:650 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Small for ge... |
ORPHA:324575 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth ... |
ORPHA:94089 |
Sarcoidosis |
|
Bone cyst, Hepatomegaly, Abnormal cardiac ventricular function, Cataract, Enlargement of parotid ... |
ORPHA:797 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Increased serum lactate |
OMIM:619196 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentration, Decreased glo... |
ORPHA:91500 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Vomiting, Abnormal re... |
ORPHA:90794 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Lactic acidosis |
OMIM:615595 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Enlarged kidney, A... |
ORPHA:116 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Weight l... |
ORPHA:100024 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Elevated circ... |
OMIM:612089 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Precocious puberty, Hypokalemia, Short stature, Decreased cir... |
ORPHA:90795 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Mixed respiratory and metabolic acidosis, Elevated circulating creatine kinase con... |
OMIM:145600 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Nephrolithiasis, Pancreatitis, Parathyroid adenoma, Hypocalciuria, Hypercalciuria, Hypercalcemia,... |
OMIM:145980 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... |
ORPHA:276575 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Short stature, Glycosuria, Renal Fanconi syndrome, Cataract, Stage 5 chronic kidney disease, Rickets |
OMIM:268315 |
Waardenburg-Shah Syndrome |
|
Constipation, Abdominal pain, Intestinal obstruction, Abnormal intestine morphology, Aganglionic ... |
ORPHA:897 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Weight loss, Ascites, Abno... |
ORPHA:2198 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Trimethylaminuria, Hypertension, Anemia |
OMIM:602079 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Elevated lactate:pyruvate ratio, Metabolic acidosis, Hypertaurinemia, Vomiting, Inc... |
ORPHA:3008 |
Diencephalic Syndrome |
|
Decreased body weight, Everted lower lip vermilion, Cachexia, Abnormality of the hypothalamus-pit... |
ORPHA:1672 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Micrognathia, Long philtrum, Delayed puberty, Anemia, Lactic acidosis |
ORPHA:2598 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytosis, Facial palsy, Gro... |
OMIM:611490 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Increased serum lactate, Lactic acidosis |
OMIM:618239 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abdominal distention, Hepatomegaly, Feeding difficulties, Hepatic failure, Metabolic acidosis, In... |
OMIM:618528 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Thrombocytopenia, ... |
ORPHA:3226 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Failure to thrive, Cheilitis, Gastroesophageal reflux, Anorexia, Pallor, Eo... |
ORPHA:90045 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremic metabolic acidosis, Hyperchloremia, Metabolic acidosis, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremic metabolic acidosis, Hyperchloremia, Metabolic acidosis, Hyperkalemia |
OMIM:614496 |
Laryngotracheoesophageal Cleft Type 4 |
|
Intestinal atresia, Cachexia, Tracheoesophageal fistula, Abnormality of the spleen, Abnormality o... |
ORPHA:93941 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Congestive heart failure, Cerebellar hemorrhage... |
ORPHA:99901 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Increased serum lactate |
OMIM:618397 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis, Ne... |
OMIM:266130 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Chronic diarrhea, Lactic acidosis... |
OMIM:618805 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Projectile vomiting, In... |
OMIM:615237 |
Holoprosencephaly |
|
Constipation, Median cleft lip and palate, Solitary median maxillary central incisor, Proteinuria... |
ORPHA:2162 |
Familial Hypocalciuric Hypercalcemia |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati... |
ORPHA:405 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Clinodactyly of the 5th finger, Short femur, Short stature, Broad distal phalanx of finger, Bifid... |
OMIM:300990 |
Mcdonough Syndrome |
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Dental malocclusion, Short stature, Open bite, Cachexia, Short philtrum, Micrognathia, Abnormal p... |
ORPHA:2471 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
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Flexion contracture, Metabolic acidosis, Increased serum lactate, Neonatal death, Hypertrophic ca... |
OMIM:618237 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
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Increased serum lactate |
OMIM:618244 |
Juvenile Polyposis Of Infancy |
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Adenomatous colonic polyposis, Melena, Narrow mouth, Intestinal bleeding, High, narrow palate, Ab... |
ORPHA:79076 |
Fanconi Renotubular Syndrome 5 |
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Hyperchloremic metabolic acidosis, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Gly... |
OMIM:618913 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Hypoparathyroidism, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proxi... |
OMIM:146255 |
Glycogen Storage Disease Ib |
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Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
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Lactic acidosis |
OMIM:618243 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
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Failure to thrive, Hepatomegaly, Increased serum lactate, Lactic acidosis, Dysphagia, Growth dela... |
OMIM:613561 |
Immunodeficiency 76 |
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Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Chronic diarrhea, Growt... |
OMIM:619164 |
Herpes Simplex Virus Encephalitis |
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Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Hyponatremia, ... |
ORPHA:1930 |
Tetrasomy 12P |
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Thick upper lip vermilion, Anal atresia, Abnormal soft palate morphology, Short stature, Everted ... |
ORPHA:884 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Failure to thrive, Hepatomegaly, Pancreatitis, Feeding difficulties, Splenomegaly, Abdominal pain... |
ORPHA:79312 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
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Metabolic acidosis, Hyperammonemia |
OMIM:618253 |
Fabry Disease |
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Angina pectoris, Abnormality of femur morphology, Telangiectasia of the skin, Hematuria, Cataract... |
ORPHA:324 |
Hereditary Elliptocytosis |
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Cholelithiasis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Hydrops fetalis, Hemolytic anem... |
ORPHA:288 |
Autosomal Dominant Hypophosphatemic Rickets |
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Bowing of the legs, Growth delay, Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency a... |
ORPHA:89937 |
Primary Hyperoxaluria Type 1 |
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Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Metabolic acidosis, Recurrent uri... |
ORPHA:93598 |
Chédiak-Higashi Syndrome |
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Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Hypoadrenocorticism, Familial |
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Adrenal insufficiency, Vomiting, Feeding difficulties in infancy, Adrenal hypoplasia, Hyponatremi... |
OMIM:240200 |
Vipoma |
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Hepatomegaly, Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating... |
ORPHA:97282 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Aplasia/Hypoplasia of the pancreas, Renal agenesis, Hypospadias, Abnormality of endocrine pancrea... |
ORPHA:93111 |
Multiple Endocrine Neoplasia Type 4 |
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Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Bilateral Striopallidodentate Calcinosis |
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Corneal opacity, Hepatomegaly, Thrombocytopenia, Intrauterine growth retardation, Abnormality of ... |
ORPHA:1980 |
Eosinophilic Gastroenteritis |
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Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ... |
ORPHA:2070 |
Plummer-Vinson Syndrome |
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Decreased circulating ferritin concentration, Narrow mouth, Cheilitis, Abdominal pain, Esophageal... |
ORPHA:54028 |
Autoimmune Hemolytic Anemia |
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Abnormal urinary color, Abnormal leukocyte morphology, Abdominal pain, Splenomegaly, Pallor, Hemo... |
ORPHA:98375 |
Small Cell Carcinoma Of The Bladder |
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Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
3-Methylglutaconic Aciduria, Type Viii |
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Increased serum lactate, 3-Methylglutaconic aciduria, Cataract, Neutropenia, Growth delay, Bradyc... |
OMIM:617248 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Hepatomegaly, Neutrophilia, Diarrhea, Weight loss, Lymphadenopathy, Abnormal mast cell morphology... |
ORPHA:98849 |
Weismann-Netter Syndrome |
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Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Severe short st... |
ORPHA:3344 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... |
ORPHA:90793 |
Combined Oxidative Phosphorylation Deficiency 23 |
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