| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Increased serum lactate, Eleva... |
OMIM:617872 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased serum lactate, Hypomagnesemia, Thrombocy... |
OMIM:613845 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal... |
OMIM:618078 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Growth delay, Lactic acidosis, Hyperuricemia, H... |
OMIM:306000 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated lactate:pyruvate ratio, Neonatal respiratory distress, Hypoglycemia, Hypothermia, Respir... |
OMIM:245400 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Recurrent respiratory infections, Hypoglycemia, Short stature, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Malignant Hyperthermia Of Anesthesia |
|
Fever, Hypercapnia, Tachypnea, Hyperkalemia, Malignant hyperthermia, Metabolic acidosis, Hyperpho... |
ORPHA:423 |
| Beta-Ketothiolase Deficiency |
|
Fever, Hypoglycemia, Increased serum lactate, Ketoacidosis, Leukocytosis, Tachypnea, Hyperammonem... |
ORPHA:134 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Riboflavin Deficiency |
|
Hypoglycemia, Hypothermia, Elevated circulating acylcarnitine concentration, Lactic acidosis, Met... |
OMIM:615026 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia... |
OMIM:620085 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Apnea, Hypercapnia, Increased serum lactate, Respiratory insufficiency,... |
OMIM:618222 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Hypoglycemia, Dyspnea, I... |
ORPHA:348 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Fever, Hypoglycemia, Hyperammonemia, Metabolic acidosis, Hyperuricemia, Anemia |
OMIM:246450 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia, Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Hyperalaninemia... |
OMIM:614654 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Normocytic anemia, Hypogl... |
ORPHA:199299 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Short stature, Splenomegaly, Growth delay, Hyperuricemia |
OMIM:261750 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi... |
ORPHA:95409 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Nonketotic hypoglycemia, Apnea, Hypothermia, Increased serum lactate, Leukocytosis, Tachyp... |
ORPHA:20 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum pyruvate, Neonatal respiratory distress, Increased serum lactate |
OMIM:619062 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Red... |
ORPHA:505395 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipoatroph... |
ORPHA:79083 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Fever, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, ... |
ORPHA:79127 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Small for gestational age, Elevated circulating creatine kinase concentrati... |
ORPHA:26793 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Recurrent respiratory infections, Hypercapnia, An... |
ORPHA:2020 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... |
OMIM:203800 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Hyperkalemic metabolic acidosis, Pre... |
ORPHA:90794 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia, Intraut... |
OMIM:617056 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Fever, Bronchial breath sound, Cyanosis, Neutrophilia, Elevated circulating... |
ORPHA:1302 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Malignant hyperthermia, Hypercapnia |
OMIM:601887 |
| Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased hematocrit, Abnormality of the pulmonary vasc... |
ORPHA:284227 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Abnormality of temperature regulation, Apnea, Central hypoventilation, Hypercapn... |
OMIM:209880 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
| Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dysp... |
ORPHA:2902 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... |
OMIM:164310 |
| Diffuse Alveolar Hemorrhage |
|
Fever, Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis,... |
ORPHA:90060 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Dyspnea, Splenomegaly, Increased mean corpus... |
ORPHA:90041 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Fever, Diabetes mellitus, Neutrophilia, Pneumonia, Elevated circulating C-r... |
ORPHA:36238 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Increased serum lactate, Short stature, Elevated circulating creatine kinase concentration |
OMIM:616209 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
| Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia, Chronic lactic acidosis |
OMIM:150170 |
| Erythrocytosis, Familial, 2 |
|
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Pulmonary arterial hyp... |
OMIM:263400 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Stres... |
OMIM:618775 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Congenital Myopathy 13 |
|
Short stature, Hypercapnia, Flexion contracture, Malignant hyperthermia, Hypoxemia, Restrictive v... |
OMIM:255995 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
| Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis, Malignant hyperthermia |
OMIM:600467 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia, Anemia |
ORPHA:371 |
| Timothy Syndrome |
|
Hypoglycemia, Pneumonia, Bronchitis, Hypothermia, Hypocalcemia, Pulmonary arterial hypertension, ... |
OMIM:601005 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
| Glycogen Storage Disease Ia |
|
Hypoglycemia, Short stature, Hyperlipidemia, Growth delay, Xanthelasma, Lactic acidosis, Hyperuri... |
OMIM:232200 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... |
ORPHA:247768 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Fever, Elevated circulating creatine kinase concentration, Hypothermia, Pulmonary e... |
ORPHA:94093 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Hypothermia, Elevated circulating acylcarnitine concentration, H... |
ORPHA:159 |
| Lesch-Nyhan Syndrome |
|
Hyperuricemia, Anemia |
ORPHA:510 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Fever, Diabetes mellitu... |
ORPHA:140896 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Metabolic acidosis, Lactic acidosis, Tachypnea, Hypothermia |
OMIM:616501 |
| Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Lung adenocarcinoma, Reduced forced vital capacity, Nonproducti... |
ORPHA:2302 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hypothermia, Dyspnea, Insulin resistance, Hyperinsulinemia, Elevated circulating cr... |
ORPHA:230 |
| Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... |
OMIM:133100 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hypoglycemia, Epistaxis, Short stature, Chronic neutropenia, Hyperlipidemia... |
ORPHA:79259 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... |
ORPHA:314478 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... |
ORPHA:264675 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Hypothermia, Increased serum lactate, Respiratory insufficiency, Lactic acidosis, R... |
OMIM:618329 |
| Glycogen Storage Disease Ic |
|
Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Recurrent upper respiratory tract infections, L... |
OMIM:232240 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Fever, Abnormal macrophage morphology, Hypothermia, Thrombocytopenia, Leuko... |
ORPHA:292 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Episodic tachypnea, Hypoglycemia, Increased ... |
OMIM:615160 |
| Acute Liver Failure |
|
Fever, Hypoglycemia, Abnormal respiratory system physiology, Hyperammonemia, Alkalosis, Adrenal i... |
ORPHA:90062 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Hypothermia, Large for gestational age, Elevated circulating thyroid-stimul... |
ORPHA:226313 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia, Anemia |
OMIM:613092 |
| Glycogen Storage Disease Ib |
|
Hypoglycemia, Short stature, Splenomegaly, Hyperlipidemia, Neutropenia, Lactic acidosis, Xanthela... |
OMIM:232220 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy, Hypoglycemia, Hypothermia |
OMIM:610006 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased serum lactate, Restrictive ventilatory defect, Short stature, Mildly elevated creatine ... |
ORPHA:457050 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated lactate:pyruvate ratio, Neonatal respiratory distress, Hyperprolinemia, Metabolic acidos... |
OMIM:619003 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... |
OMIM:610978 |
| Combined Oxidative Phosphorylation Deficiency 43 |
|
Increased serum lactate, Intrauterine growth retardation, Small for gestational age, Elevated cir... |
OMIM:618851 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Increased serum lactate, Metabolic acidosis, Failure to thrive, Anemia |
OMIM:610090 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Fever, Increased serum lactate, Schistocytosis, Elevated c... |
OMIM:274150 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
| Primary Erythromelalgia |
|
Recurrent respiratory infections, Leukemia, Hypothermia |
ORPHA:90026 |
| Drug-Induced Lupus Erythematosus |
|
Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protei... |
ORPHA:231111 |
| Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia |
ORPHA:543 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Hyperuricemia |
OMIM:609886 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Increased serum lactate, Hyperammonemia, Lactic acidosis... |
OMIM:614702 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypothermia, Splenomegaly, Gr... |
OMIM:251880 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Postnatal growth retardation, Acidosis, Chroni... |
OMIM:227810 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Respiratory distress, Increased connective tissue, Increased serum lact... |
ORPHA:238329 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, ... |
ORPHA:70588 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Short stature, Large for gestational age, Metaboli... |
OMIM:616026 |
| Juvenile Paget Disease |
|
Short stature, Hyperuricemia |
ORPHA:2801 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn... |
ORPHA:2257 |
| Pneumocystosis |
|
Fever, Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neu... |
ORPHA:723 |
| Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Hypothermia, ... |
ORPHA:90674 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Hypoglycemia, Hypothermia, Pulmo... |
ORPHA:79282 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Met... |
ORPHA:26792 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Fever, Cyanosis, Crazy paving pattern, Crackles, Dysp... |
ORPHA:747 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Postnatal growth retardation, H... |
OMIM:232700 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Hyperuricemia, Obesity |
ORPHA:261222 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis, Increased serum lactate, Metabolic acidosis, Lactic acidosis, Fai... |
ORPHA:91130 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Hypoglycemia, Increased serum lactate, Decreased plasma free carnitine, Metabolic acidosis... |
OMIM:619048 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Elevated lactate:pyruvate ratio, Hypoglycemia, Postnatal growth retardation, Increased serum lact... |
OMIM:616111 |
| Interstitial Lung And Liver Disease |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Hyperammonemia, Hypo... |
OMIM:615486 |
| Acute Lung Injury |
|
Respiratory distress, Fever, Pneumonia, Elevated circulating C-reactive protein concentration, Di... |
ORPHA:178320 |
| Intellectual Developmental Disorder, Autosomal Recessive 1 |
|
Increased serum lactate |
OMIM:249500 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Hypothermia, Episodic respiratory distress, Tachypnea, Hyperkalemia, Lactic acidosis, M... |
ORPHA:31826 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Premature adrenar... |
ORPHA:293987 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| High Altitude Pulmonary Edema |
|
Fever, Orthopnea, Cyanosis, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmona... |
ORPHA:330012 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hyperkalemia, Malignant ... |
ORPHA:466650 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Increased circulati... |
OMIM:613179 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:3222 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Small for gestational age, Hypoglycemia, Increased serum lactate, Bronchiectasis, Respirat... |
OMIM:618253 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Fever, Hypoglycemia, Increased serum lactate, Recurrent upper respiratory tract infections, Hyper... |
OMIM:620137 |
| Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Acidosis, Ketoacidosis, Failure to t... |
ORPHA:289504 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Increased serum lactate |
OMIM:618855 |
| Hereditary Fructose Intolerance |
|
Reactive hypoglycemia, Hypermagnesemia, Growth delay, Metabolic acidosis, Hyperuricemia, Hypophos... |
ORPHA:469 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Placental Insufficiency |
|
Small for gestational age, Proportionate short stature, Abnormal lung morphology, Insulin resista... |
ORPHA:439167 |
| Spontaneous Periodic Hypothermia |
|
Abnormal pattern of respiration, Hypothermia |
ORPHA:29822 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Hypoventilation, Abnormality of temperature regulation, Short stature, Hy... |
OMIM:618493 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Respiratory insufficiency due to muscle weakness, Increased serum lactate |
OMIM:300816 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Short stature, Macular scar, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Failure to thrive |
OMIM:239000 |
| Glycogen Storage Disease V |
|
Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Growth delay, Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:617613 |
| Avian Influenza |
|
Respiratory distress, Fever, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:454836 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Apnea, Inguinal hernia, Hypothermia |
OMIM:614498 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
| Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Proximal renal tubular acidosis, Lactic acidosis, Glycosuria, Metab... |
OMIM:229600 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Respiratory distress, Recurrent respiratory infections, Apnea, Hypoglycem... |
ORPHA:17 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
| Lymphoid Interstitial Pneumonia |
|
Fever, Multiple pulmonary cysts, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Bronch... |
ORPHA:79128 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Growth del... |
OMIM:223900 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Epistaxis, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... |
OMIM:612387 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Increased serum lactate, Flexion contracture, Metabolic acidosis, Neonatal death, Intrauterine gr... |
OMIM:618237 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Fever, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obst... |
ORPHA:60032 |
| Absence Of The Pulmonary Artery |
|
Orthopnea, Recurrent respiratory infections, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pn... |
ORPHA:980 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Elevated circulating C-reactive protein concentration, Pulmonary embolism... |
ORPHA:70591 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Neutropenia, Hypoxemia, Cellulitis, Abnormal pl... |
ORPHA:238459 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Thyroid hypoplasia, Increased circulating thyroglobulin level, Hypothermia, Goiter, Elevated circ... |
ORPHA:90673 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Fever, Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentra... |
OMIM:235400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Fever, Apnea, Acidosis, Metabolic acidosis, Failure to thrive |
OMIM:618235 |
| Menkes Disease |
|
Intrauterine growth retardation, Decreased circulating ceruloplasmin concentration, Short stature... |
OMIM:309400 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Respiratory distress, Hypoglycemia, Increased serum lactate, Lactic aci... |
OMIM:614741 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Increased seru... |
OMIM:619386 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Reduced circulating prolactin concentration, Increased blood urea nitro... |
OMIM:223360 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Respiratory failure, Increased serum lactate, Severe lactic acidosis |
OMIM:616794 |
| Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Short stature, Elevated circulating creatine kinase concentration, Met... |
ORPHA:408 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Pulmonary hypoplasia, Neonatal deat... |
OMIM:614096 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Apneic episodes pre... |
OMIM:312170 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, ... |
OMIM:616974 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Increased serum lactate, Diabetes mellitus |
ORPHA:320360 |
| Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Growth delay, Abnormal pattern of respiration, Hypothermia |
ORPHA:168593 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Elevated circulating creatine kinase concentration, Respiratory insuffi... |
OMIM:500009 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
| Hypomagnesemia 3, Renal |
|
Elevated circulating parathyroid hormone level, Hyperuricemia, Hypomagnesemia, Distal renal tubul... |
OMIM:248250 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Growth delay, Bronchospasm, Abnormal patte... |
OMIM:608800 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Increased serum lactate, Splenomegaly, Hyperprolinem... |
OMIM:619046 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia, Short stature, Hyperlipidemia, Postprandial hyperlactemia, Growth delay, Delayed pu... |
ORPHA:369 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... |
OMIM:241080 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Idiopathic Bronchiectasis |
|
Fever, Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Respiratory tract infection, Abno... |
ORPHA:60033 |
| Meningococcal Meningitis |
|
Fever, Neonatal respiratory distress, Hypothermia, Elevated circulating C-reactive protein concen... |
ORPHA:33475 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Fever, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Ta... |
ORPHA:91359 |
| C1Q Deficiency 2 |
|
Elevated circulating C-reactive protein concentration, Atelectasis, Bronchiectasis, Persistent fe... |
OMIM:620321 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Increased serum lactate |
OMIM:240600 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Elevated lactate:pyruvate ratio, Respiratory insufficiency, Lactic acidosis, Metabolic acidosis, ... |
OMIM:615330 |
| Developmental And Epileptic Encephalopathy 53 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:617389 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia |
OMIM:162000 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Apnea, Small for gestational age, Increased serum lactate, Leukocytosis, Neutropeni... |
ORPHA:391673 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased serum lactate, Increased ... |
OMIM:600462 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Abnormal dental enamel morphology, Hypercalcemia, Obesity, Increased blood urea ni... |
ORPHA:251004 |
| Cockayne Syndrome Type 1 |
|
Abnormality of temperature regulation, Foot joint contracture, Scarring, Postnatal growth retarda... |
ORPHA:90321 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... |
ORPHA:171876 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated lactate:pyruvate ratio, Hypoglycemia, Metabolic ketoacidosis, Increased serum lactate, K... |
OMIM:615453 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Increased serum lactate |
OMIM:619196 |
| Propionic Acidemia |
|
Pancytopenia, Apnea, Hypoglycemia, Short stature, Thrombocytopenia, Tachypnea, Hyperammonemia, La... |
OMIM:606054 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Increased serum la... |
OMIM:617021 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Adrenal hypoplasia |
OMIM:619151 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Increased serum lactate, Hypoglycemia, Metabolic acidosis |
OMIM:615158 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Increased serum lactate, Failure to thrive |
OMIM:618951 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Inc... |
OMIM:613561 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Dyspnea, Hypoxemia, Acidosis, Methemoglobinemia |
ORPHA:464453 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Proximal ... |
ORPHA:3337 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:614055 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
| Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Apnea, Hypothermia, Increased serum lactate, Dyspnea, Low plasma citrulline, Episodic resp... |
ORPHA:255210 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... |
ORPHA:94086 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta... |
OMIM:222748 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hyperuricemia, Short stature, Megaloblastic anemia |
OMIM:300322 |
| Goodpasture Syndrome |
|
Fever, Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Increase... |
OMIM:233450 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th... |
OMIM:218700 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hypoglycemia, Ketoacidosis, Lactic acidosis, Metabolic acidosis |
OMIM:246900 |
| Developmental And Epileptic Encephalopathy 82 |
|
Increased serum lactate, Short stature, Hyperammonemia, Decreased body weight |
OMIM:618721 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Hypoglycemia, Increased serum lacta... |
ORPHA:2394 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Hypoglycemia, Ankle flexion contracture, Elevated circulating creatine kinase conc... |
OMIM:618120 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:545000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Metabolic acidosis, Respiratory failure requiring assisted ventilation, Lactic acidosis, Intraute... |
OMIM:618776 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Hyperalaninemia, Failure to ... |
OMIM:618378 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Recurrent respiratory infections, Hyperkalemia, Metabolic acidosis, Hyperactive ren... |
OMIM:264350 |
| Bardet-Biedl Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
| Marburg Hemorrhagic Fever |
|
Fever, Reticulocytosis, Lymphopenia, Abnormality of acid-base homeostasis, Hypoglycemia, Elevated... |
ORPHA:99826 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Growth delay, Lactic acidosis, Hypogonadism, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Fever, Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failure, ... |
ORPHA:542323 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Apnea, Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Metabolic acidosis, S... |
OMIM:618228 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Recurrent respiratory infections, Hyperuricemia |
ORPHA:411543 |
| Sarcoidosis |
|
Abnormal lung morphology, Increased T cell count, Leukopenia, Cough, Emphysema, Hypothyroidism, H... |
ORPHA:797 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Short stature, Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubula... |
OMIM:604278 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... |
OMIM:606407 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Increased serum l... |
OMIM:613027 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Increased serum lactate |
OMIM:615395 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, L... |
ORPHA:1164 |
| Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Increased serum lactate, Hyperalaninemia, Lactic acidosis, Hyperprolinemia |
ORPHA:79246 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Metabolic acidosis, Decreas... |
OMIM:611590 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... |
ORPHA:77293 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Metabolic acidosis, Hyperalaninemia |
ORPHA:2597 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Growth delay, Glycosur... |
ORPHA:411634 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Short stature, Elevated circulating creatine kinase concentration, Increased serum lactate, Respi... |
ORPHA:324525 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Metabolic acidosis, Intrauterine growth retardation, Neonatal death |
OMIM:301021 |
| Hawkinsinuria |
|
Metabolic acidosis, Abnormal circulating tyrosine concentration, Failure to thrive, Hypothyroidism |
ORPHA:2118 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Dyspnea, Ketoacidosis, Metabolic acidos... |
OMIM:614582 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Tachypnea, Spherocytosis, Hep... |
ORPHA:71275 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Acidosis |
ORPHA:90064 |
| Perrault Syndrome 5 |
|
Increased serum pyruvate, Increased serum lactate, Hypergonadotropic hypogonadism, Elevated circu... |
OMIM:616138 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hyperalaninemia, Failure ... |
OMIM:614739 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Elevated circulating C-reactive protein concentration, Increased ... |
ORPHA:97214 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:617069 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Growth delay, Increased serum lactate |
OMIM:618244 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Severe short stature, Cachexia, Postnatal... |
ORPHA:191 |
| Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Lactic acidosis, Failure to thrive, Abnormal circulating pyruvate family amino acid concentration... |
ORPHA:255182 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Neonatal respiratory distress, Small for gestational age, Increased ser... |
ORPHA:79243 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... |
ORPHA:90795 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Renal Fanconi syndrome, Hyperuri... |
ORPHA:93111 |
| Cholera |
|
Hyponatremia, Fever, Hypoglycemia, Tachypnea, Abnormal blood ion concentration, Lactic acidosis, ... |
ORPHA:173 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Respiratory failure requiring assisted ventilation, Recurrent ... |
ORPHA:1187 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Atelectasis, Achilles tendon contracture, Dec... |
ORPHA:254361 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate |
OMIM:251950 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Increased serum lactate, Respiratory insufficiency, Growth delay, Lactic acidosis, Metabol... |
OMIM:618226 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Lactic acidosis, Intrauterine growth retardation, Failure to thrive, Increased serum lactate |
OMIM:616198 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Hy... |
OMIM:617668 |
| Tracheobronchopathia Osteochondroplastica |
|
Fever, Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wh... |
ORPHA:3348 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocy... |
ORPHA:760 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Acidosis, Low plasma citrulline, Hyperammonemia |
OMIM:618567 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hypoglycemia, Increased serum lactate, Proximal renal tubular acidosis,... |
OMIM:266150 |
| Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Hyperuricemia, Short stature |
OMIM:300661 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:617070 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, Pulmonary arterial hypertension, Metabo... |
OMIM:619051 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:79085 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Increased serum lactate, Metabolic acidosis, Intrauterine growth retardation, Failu... |
OMIM:618958 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Asthma, Resp... |
ORPHA:488632 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Lactic acidosis, Hyperalaninemia, Failure to thrive, Increased serum lactate |
OMIM:617228 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
| Hsd10 Mitochondrial Disease |
|
Lactic acidosis, Elevated circulating tiglylglycine concentration, Hypoglycemia, Metabolic acidosis |
OMIM:300438 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Increased serum lactate, Hyperammonemia, Metabolic acidosis, Lactic acidosis, Respiratory failure... |
OMIM:610678 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Increased serum lactate, Small for gestational age, Elevated circulating creatine kinase concentr... |
OMIM:619054 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Increased serum lactate, Hyperalaninemia, Failure to thrive, Hypoglycemia |
OMIM:617950 |
| Hypophosphatasia |
|
Short stature, Failure to thrive in infancy, Hypercalcemia, Respiratory insufficiency, Emphysema,... |
ORPHA:436 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress, Congenital diaphragmatic hernia |
ORPHA:2140 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Increased serum lactate, Apnea, Metabolic acidosis |
OMIM:618225 |
| Galactosemia I |
|
Hemolytic anemia, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Metabo... |
OMIM:230400 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricemia |
OMIM:300323 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Respiratory insufficiency due to muscle weakness, Increased serum lactate, Restrictive ventilator... |
ORPHA:663 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Short stature, Increased serum lactate, Lactic acidosis, Pulmonary arterial hypertension, Hypergl... |
OMIM:619059 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased serum lactate, Recurrent respiratory infections, Hyperglycinemia |
OMIM:619063 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir... |
OMIM:137920 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411536 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Hypoglycemia, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis |
ORPHA:391428 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Metabolic acidosis, Respiratory insufficiency |
OMIM:618224 |
| Sengers Syndrome |
|
Increased serum lactate, Respiratory insufficiency, Growth delay, Lactic acidosis, Pulmonary arte... |
OMIM:212350 |
| Lipoyltransferase 1 Deficiency |
|
Increased serum lactate, Hyperglutaminemia, Hyperprolinemia, Lactic acidosis, Pulmonary arterial ... |
OMIM:616299 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Elevated lactate:pyruvate ratio, Intrauterine growth retardation, Increased serum lactate, Metabo... |
OMIM:609060 |
| Alexander Disease |
|
Diabetes mellitus, Hypothermia, Precocious puberty, Respiratory insufficiency, Failure to thrive,... |
ORPHA:58 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Proportionate short stature, Increased circulat... |
ORPHA:71212 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Pulmonary embolism, Abnorm... |
ORPHA:447 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Increased serum lactate, Tachypnea, Lactic acid... |
OMIM:615838 |
| Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Small for gestational age, Hypoglycemia, Neonatal asphyxia, Hyper... |
ORPHA:79237 |
| Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:618416 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Respiratory distress, Hypoglycemia, Metabolic ketoacidosis, Hyperammonemi... |
OMIM:251000 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Fever, Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circula... |
ORPHA:49041 |
| Xanthinuria, Type Ii |
|
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia |
OMIM:603592 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra... |
OMIM:612073 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Hypoglycemia, Increased serum lactate, Ketoacidosis, Hyperglutaminemia, Lo... |
OMIM:615751 |
| Tiglic Acidemia |
|
Acidosis |
OMIM:275190 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lactic acidosis, Increased serum lactate, Small for gestational age, Neonatal death |
OMIM:610498 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased serum lactate, Respiratory insufficiency, Elevated circulating 2-hydroxybutyric acid co... |
OMIM:605711 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Small for gestational age, Maternal diabetes, Tachypnea, Anomalous pulmonary venous ret... |
ORPHA:860 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Sepsis In Premature Infants |
|
Fever, Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Elevated circulating ... |
ORPHA:90051 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Increased adipose tissue, Increased serum lactate, Dyspnea, Multiple li... |
ORPHA:1349 |
| Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Growth delay, Glycosuria, Re... |
ORPHA:2088 |
| Combined Oxidative Phosphorylation Deficiency 48 |
|
Increased serum lactate, Lactic acidosis, Failure to thrive |
OMIM:619012 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Glycosuria, Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemic rickets, Emphy... |
OMIM:618913 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Hyperaldost... |
OMIM:177735 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Increased serum lactate, Delayed menarche |
ORPHA:330050 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Increased serum lactate, Metabolic acidosis, Apnea, Respiratory insufficiency |
OMIM:617290 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Elevated lactate:pyruvate ratio, Hypergonadotropic hypogonadism, Increased serum lactate, Obesity... |
OMIM:619737 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Fever, Neonatal insulin-dependent diabetes mellitus, Short stature, Ketoacidosis, N... |
ORPHA:1667 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Insulin resistance, Flexion contracture, Recurrent pneumonia, Elbow fl... |
OMIM:214150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Lactic acidosis, Failure to thrive, Metabolic acidosis, Increased serum lactate |
OMIM:618234 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Diabetes mellitus, Foot joint contracture, Mild postnatal growth retardation, Achilles tendon con... |
ORPHA:456312 |
| Medullary cystic kidney disease 2 |
|
Hyperuricemia |
OMIM:603860 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Increased serum lactate, Intrauterine growth retardation, Respiratory insufficiency |
OMIM:616276 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Acidosis |
OMIM:137950 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Increased serum lactate, Lactic acidosis, Apnea |
OMIM:618236 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Acidosis, Severe short stature |
OMIM:204730 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Decreased plasma free carnitine, Failure to thrive, ... |
OMIM:616034 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis |
OMIM:245349 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Short stature, Precocious puberty, Insulin-resistant dia... |
OMIM:262190 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Respiratory failure, Failure to thrive |
ORPHA:70472 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Increased serum lactate, Hyperalaninemia, Neonatal death, Hyperprolinemia |
OMIM:615918 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Increased serum lactate, Hyperprolinemia, Pulmonary arterial hypert... |
OMIM:619064 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Respiratory failure requiring assisted ventilation, Failure to thrive in infancy, Increased serum... |
OMIM:619026 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Neonatal respiratory distress, Hypoglycemia, Short stature, Lactic acidosis, Metabolic acidosis |
OMIM:248360 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypoglycemia, Pulmonary hypoplasia, Glycosuria, Neonatal death, Elevated ci... |
OMIM:231680 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Increased serum lactate, Hyperammonemia, Growth delay, Lactic acidosis, Metabolic acidosis |
OMIM:611719 |
| Hypokalemic Tubulopathy And Deafness |
|
Acidosis, Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Metabolic acidosis, Hemolytic anemia |
OMIM:231900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Incr... |
OMIM:619055 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pulmonary capillary ... |
ORPHA:199241 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
Neonatal death, Hypocystinemia, Hypouricemia, Hypertaurinemia |
OMIM:615501 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Pyruvate Carboxylase Deficiency |
|
Elevated lactate:pyruvate ratio, Tachypnea, Lactic acidosis, Hyperglycemia, Hypoglutaminemia, Ele... |
ORPHA:3008 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:615866 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Fever, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticoster... |
ORPHA:556037 |
| Cardiogenic Shock |
|
Increased pulmonary capillary wedge pressure, Crackles, Increased serum lactate, Dyspnea, Elevate... |
ORPHA:97292 |
| Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouric... |
OMIM:277900 |
| Bronchogenic Cyst |
|
Fever, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronch... |
ORPHA:2357 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Increased serum lactate, Failure to thrive, Apnea, Elbow contracture |
OMIM:611523 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Metabolic acidosis, Type II diabetes mellitus |
ORPHA:31825 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Dyspnea, Achilles te... |
OMIM:615418 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Cyanosis, Apnea, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Hypochromic microcy... |
OMIM:619147 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Increased serum lactate, Hypoalbuminemia |
OMIM:614652 |
| Cardiomyopathy, Dilated, 2C |
|
Increased serum lactate, Pulmonary arterial hypertension |
OMIM:618189 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Thrombocytopenia, Hyperammonemia, Met... |
OMIM:251110 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Elevated lactate:pyruvate ratio, Short stature, Increased serum lactate, Stress/infection-induced... |
OMIM:252011 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Small for gestational age, Increased serum lactate, Respiratory insufficiency, H... |
OMIM:614052 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis |
OMIM:203740 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Neonatal respiratory distress, Elevated circulating hexacosanoic acid concentration, Increased se... |
OMIM:614388 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Increased serum lactate, Lactic acidosis, Respiratory insufficiency |
OMIM:618230 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Increased serum lactate, Hyperalaninemia, Recurrent lower respiratory tract infections, Hyperprol... |
OMIM:619170 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Hypoglycemia, Low plasma citrulline, Lactic acidosis, Fasting hypoglycemia, Impa... |
OMIM:261680 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fever, Fasciitis, Sinusitis, Elevated circulating creatine kinase concentra... |
ORPHA:36234 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Increased serum lactate, Respiratory failure, Apnea |
OMIM:616277 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate |
OMIM:612016 |
| Hsd10 Disease, Neonatal Type |
|
Metabolic acidosis, Lactic acidosis |
ORPHA:391457 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L... |
OMIM:618278 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... |
OMIM:614736 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Small for gestational age, Short stature, Hyperkalem... |
ORPHA:97362 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Short stature, Decreased serum iron, Breathing dysregulation, Abnormality... |
ORPHA:438213 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Increased serum lactat... |
ORPHA:99901 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Flexion contracture, Hypothermia, Aspiration pneumonia |
ORPHA:99027 |
| Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia |
ORPHA:2769 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Hyperuricemia |
OMIM:614227 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive |
OMIM:602722 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Thrombocytopenia, Hyperammonemia, Met... |
OMIM:251100 |
| Menkes Disease |
|
Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, Hernia, Umbilical hernia, ... |
ORPHA:565 |
| Leigh Syndrome |
|
Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Respiratory failure, Failure... |
OMIM:256000 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Elevated lactate:pyruvate ratio, Overweight, Increased serum lactate, Obesity, Pulmonary arterial... |
OMIM:614651 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Short stature, Increased serum lactate, Increased circulating ferritin concentrati... |
OMIM:222700 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:620300 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| 3-Methylglutaconic Aciduria Type 9 |
|
Increased serum lactate, Failure to thrive, Slender build |
ORPHA:505216 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Proximal renal tubular acidosis, Growth delay, Metabolic acidosis, In... |
ORPHA:427 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Short sta... |
ORPHA:264580 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Reduced C-peptide level,... |
ORPHA:556955 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Increased serum lactate, Failure to thrive, Short stature, Decreased body weight |
OMIM:619060 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Ketotic ... |
ORPHA:79240 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis, Camptodactyly of finger |
ORPHA:896 |
| Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Metabolic acidosis, Bronchiectasis |
OMIM:619445 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Increased serum lactate, Failure to thrive |
OMIM:617954 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, In... |
OMIM:615824 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Hypoxemia, Iron deficiency anemia, Pleural empyema, Pulmonary hemor... |
ORPHA:2038 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurrent lower respiratory tra... |
OMIM:620233 |
| Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left he... |
ORPHA:2847 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Splenomegaly, Hypoxemia, Neutropenia, Recurrent lower respiratory tract infecti... |
OMIM:308230 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor... |
OMIM:214700 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Flexion contracture, Increased serum lactate |
OMIM:619224 |
| Farber Disease |
|
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Thrombocytop... |
ORPHA:333 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis, Respiratory insuffi... |
OMIM:618247 |
| Rett Syndrome |
|
Increased serum pyruvate, Increased serum lactate, Hyperammonemia, Increased serum leptin, Failur... |
ORPHA:778 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l... |
OMIM:620126 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Fever, Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circula... |
ORPHA:91500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Increased serum lactate |
OMIM:301020 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, T... |
OMIM:557000 |
| Fanconi Renotubular Syndrome 3 |
|
Short stature, Elevated circulating creatinine concentration, Growth delay, Metabolic acidosis, G... |
OMIM:615605 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Bone-marrow foam cells, Hype... |
ORPHA:275761 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Metabolic acidosis, Renal tubular ... |
OMIM:613404 |
| D-Glyceric Aciduria |
|
Neonatal respiratory distress, Hypoglycemia, Nonketotic hyperglycinemia, Growth delay, Metabolic ... |
OMIM:220120 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l... |
OMIM:620125 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Temperature instability, Apnea, Cardiorespiratory arrest |
OMIM:608643 |
| Sarcoidosis, Susceptibility To, 1 |
|
Fever, Pancytopenia, Dyspnea, Splenomegaly, Bronchiectasis, Abnormal pulmonary interstitial morph... |
OMIM:181000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Elevated lactate:pyruvate ratio, Respiratory distress, Increased serum ... |
OMIM:604377 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Fever, Elevated circulating C-reactive protein concentration, Crackles, Non... |
ORPHA:319213 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Lactic acidosis, Increased serum lactate |
ORPHA:139485 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Increased serum lactate, Intrauterine growth retardat... |
ORPHA:319514 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:26791 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplastic labia major... |
OMIM:618419 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Fever, Apnea, Hypoglycemia, Dyspnea, Metabolic acidosis, Hyperventilation |
OMIM:229700 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration, Respiratory insuffic... |
OMIM:616479 |
| Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Multiple lipomas, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullar... |
ORPHA:122 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Increased serum lactate, Pneumothorax, Growth delay, Respiratory failure, Infection associated ne... |
ORPHA:445038 |
| Achondroplasia |
|
Rhizomelia, Disproportionate short stature, Obesity, Hypoxemia, Restrictive ventilatory defect |
ORPHA:15 |
| Sulfite Oxidase Deficiency, Isolated |
|
Metabolic acidosis, Elevated circulating creatine kinase concentration |
OMIM:272300 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammonemia, Hyperprolinemi... |
OMIM:620358 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Apnea, Hypoglycemia, Episodic metabolic acidosis, Failure to thrive |
OMIM:210200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Lactic acidosis, Increased serum lactate |
OMIM:618239 |
| Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Increased serum lactate, Failure to thrive, Metabolic acidosis, Respiratory insufficiency |
ORPHA:88639 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Increased serum lactate, Lactic acidosis, Intrauterine growth retardation, Hyp... |
OMIM:615578 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Fever, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pne... |
ORPHA:90790 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Inguinal hernia, Increased serum lactate, Growth delay, Lactic acidosis, Pu... |
OMIM:619272 |
| Pearson Syndrome |
|
Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Lactic ac... |
ORPHA:699 |
| Spinocerebellar Ataxia With Epilepsy |
|
Increased serum lactate, Hyperalaninemia |
ORPHA:254881 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Inguinal hernia, Hypoglycemia, Elbow contracture, Increased serum lactate, Umbil... |
OMIM:620275 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Growth delay, Increased serum lactate |
OMIM:614932 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Ketoacidosis, Hyperammonemia, Metabolic acidosis, Hyperleucin... |
OMIM:210210 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Tachypne... |
ORPHA:555874 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Increased serum lactate |
OMIM:500003 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Increased serum lactate... |
OMIM:255125 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Increased serum lactate, Pneumothorax, Abnormal circulating ceruloplasmin c... |
OMIM:620306 |
| Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Acidosis, Abnormal blood ion concentration, Growth delay, Glyc... |
ORPHA:411629 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Growth delay, Hypouricemia, Neonatal death |
OMIM:252160 |
| Adenosine Monophosphate Deaminase Deficiency |
|
Increased serum lactate, Elevated creatine kinase after exercise |
ORPHA:45 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Respiratory insufficiency, Respirato... |
OMIM:602088 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Dyspnea, Lactic acidosis, Hyperalaninem... |
OMIM:618250 |
| Dilated Cardiomyopathy With Ataxia |
|
Increased serum lactate, Hypochromic microcytic anemia, Growth delay, Normochromic microcytic ane... |
ORPHA:66634 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Metabolic acidosis, Short stature |
OMIM:611555 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:618183 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Increased serum lactate |
OMIM:617917 |
| Glucose/Galactose Malabsorption |
|
Metabolic acidosis, Failure to thrive, Abnormal oral glucose tolerance, Glycosuria |
OMIM:606824 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Increased serum lactate, Thrombocytopenia, Recurrent pneumonia,... |
OMIM:616271 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Elevated circulating creatine kinase concentration, Microcytic anemia, Increased serum lactate, D... |
OMIM:251900 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hyperthreoninemia, Abn... |
ORPHA:247598 |
| Hereditary Xanthinuria |
|
Hypouricemia, Hyperxanthinemia |
ORPHA:3467 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Increased serum lactate |
ORPHA:477774 |
| Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus |
OMIM:601186 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Increased serum lactate, ... |
OMIM:220110 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Increased serum lactate, Lactic acidosis, Intrauterine growth retardation, Thromboc... |
OMIM:617710 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Metabolic acidosis, Lactic acidosis, Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Metabol... |
OMIM:208085 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Increased serum lactate, Flexion contracture, Apnea |
OMIM:612233 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Small for gestational age, Increased serum lactate, Hyperammonemia, Growth delay, Lactic acidosis... |
OMIM:615471 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Metabolic alkalosis, Increased circulating ACTH level, Increased circulating cortis... |
OMIM:615962 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Increased serum lactate, Failure to thrive |
OMIM:617698 |
| D-Glyceric Aciduria |
|
Metabolic acidosis, Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty... |
ORPHA:941 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Increased connective tissue, Atelectasis, Flexion contracture, Respiratory insuf... |
ORPHA:258 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Recurrent respiratory infections, Increased serum lactate, Flexion contracture, Congenital contra... |
OMIM:618397 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Pseudohypoaldosteron... |
OMIM:614492 |
| Leopard Syndrome 1 |
|
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... |
OMIM:151100 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Hypertriglyceridemia, Failure to thrive in infancy, H... |
OMIM:619418 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Premature thelarche, Elevated c... |
OMIM:616878 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Increased serum lactate |
OMIM:615159 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Hyponatremia, Short stature, Abnormal dental enamel morpholog... |
ORPHA:534 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lactic acidosis, Increased serum lactate |
OMIM:614458 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperchloremic acidosis, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Increased serum lactate, Flexion contracture, Camptodactyly, Failure to thrive |
OMIM:604273 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... |
OMIM:307030 |
| Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Abnormality of acid-base homeostasis, Leukocytosis, Abnormal ... |
ORPHA:31824 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Fever, Recurrent respiratory infections, Eosinophilia, Cough, Atelectasis, Cellulitis |
ORPHA:2314 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Apnea, Increased serum lactate, Respiratory insufficiency, Growth delay, Lactic acidosis, Joint c... |
OMIM:614462 |
| Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem... |
OMIM:616113 |
| Lactase Deficiency, Congenital |
|
Metabolic acidosis |
OMIM:223000 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Hypothermia, Corneal scarring, Atypical scarring of skin, Growth delay, Anemia, Unexpl... |
ORPHA:642 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Increased serum lactate, Hyperkalemia, Metabolic acidosis, Hypoalb... |
OMIM:618528 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Fever, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Sple... |
OMIM:276700 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Short sta... |
OMIM:613986 |
| Leigh Syndrome |
|
Multiple joint contractures, Hypoglycemia, Increased serum lactate, Ketoacidosis, Growth delay, R... |
ORPHA:506 |
| Immunodeficiency 44 |
|
Increased serum lactate, Lymphopenia |
OMIM:616636 |
| Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Short stature, Proximal renal tubular acidosis |
OMIM:179830 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration... |
OMIM:610505 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Increased serum lactate, Arthrogryposis multiplex congenita, Neonatal death |
OMIM:616342 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Short stature, Increased serum lactate, Respiratory failure, Hyperalan... |
OMIM:619847 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:480864 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Metabolic acidosis, Failure to thrive, Elevated circulating palmitoleylcarnitine concentration, H... |
OMIM:251120 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Growth delay, Hypouricemia |
OMIM:252150 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
| 3-Methylglutaconic Aciduria, Type I |
|
Metabolic acidosis, Failure to thrive |
OMIM:250950 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... |
ORPHA:70 |
| Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra... |
OMIM:612933 |
| Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
| Paganini-Miozzo Syndrome |
|
Elevated lactate:pyruvate ratio, Hyperalaninemia, Increased serum lactate |
OMIM:301025 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Growth delay, Ane... |
OMIM:615895 |
| Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... |
ORPHA:198 |
| Isovaleric Acidemia |
|
Pancytopenia, Ketoacidosis, Metabolic acidosis, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Increased serum lactate, Dyspnea, Lactic acidosis, Glucose intolerance, ... |
OMIM:616539 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:228308 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Leber Optic Atrophy And Dystonia |
|
Increased serum lactate |
OMIM:500001 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Short stature, Elevated circulating creatine kinase concentration, Increased serum lactate, Hypom... |
OMIM:619743 |
| Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Small for gestational age, Lipoatrophy, Flexion contracture, Hypox... |
ORPHA:284979 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Increased serum lactate, Nonketotic hyperglycinemia |
ORPHA:401866 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased serum lactate, Growth delay, Lactic acidosis, Anemia, Elevated hepatic iron concentrati... |
OMIM:614946 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death |
OMIM:300219 |
| Vici Syndrome |
|
Recurrent respiratory infections, Lymphopenia, Elevated circulating creatine kinase concentration... |
OMIM:242840 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Increased serum lactate, Metabolic acidosis |
OMIM:614105 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Lactic acidosis, Stridor, Metabolic acidosis, Failure to thrive |
OMIM:615595 |
| Glutaric Acidemia I |
|
Metabolic acidosis, Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglyc... |
OMIM:231670 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Increased serum lactate, Failure to thrive, Hyperammonemia |
OMIM:616672 |
| Melas |
|
Hypoparathyroidism, Fever, Diabetes mellitus, Hypogonadotropic hypogonadism, Short stature, Incre... |
ORPHA:550 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Metabolic acidosis, Pseudohypoaldosteronism, Hyperchloremia, Hyperchloremic metabol... |
OMIM:614496 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Increased serum l... |
OMIM:610131 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Increased serum lactate, Lactic acidosis, Renal tubular acidosis, Respiratory failure, Stillbirth... |
OMIM:614922 |
| Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypoxemia, Increased red cell s... |
OMIM:603903 |
| Optic Atrophy 11 |
|
Increased serum lactate, Splenomegaly, Short stature, Mildly elevated creatine kinase |
OMIM:617302 |
| Hydroxykynureninuria |
|
Metabolic acidosis, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Breath... |
ORPHA:79155 |
| Zygomycosis |
|
Fever, Fasciitis, Sinusitis, Diabetes mellitus, Epistaxis, Ketoacidosis, Atelectasis, Pneumothora... |
ORPHA:73263 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyski... |
OMIM:244400 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Metabolic acidosis, Hypokalemia, Hyperaldosteronism, Decreased circulating r... |
OMIM:613677 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra... |
ORPHA:2364 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Abnormality of the thyroid gland, Diabetes mellitus, Hypogonadism, Increased serum lactate |
OMIM:609286 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Pancytopenia, Small for gestational age, Hypoglycemia, Short stature, Tachypnea,... |
OMIM:613658 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Increased serum lactate, Neonatal death, Hypocholesterolemia |
OMIM:618810 |
| Fanconi Renotubular Syndrome 1 |
|
Short stature, Hypophosphatemia, Metabolic acidosis, Hypokalemia, Glycosuria |
OMIM:134600 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... |
OMIM:242700 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Increased serum lactate |
OMIM:616684 |
| Harel-Yoon Syndrome |
|
Increased serum lactate |
OMIM:617183 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Lactic acidosis, Joint contracture, Increased serum lactate |
OMIM:617664 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| Congenital Short Bowel Syndrome |
|
Metabolic acidosis, Failure to thrive, Steatorrhea |
OMIM:615237 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Int... |
OMIM:617713 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Short stature, Splenomegaly, Reduc... |
OMIM:219800 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Pulmonary fibrosis, Type I diabetes mellitus, Emphysema, Lymphopenia, Anemia |
OMIM:620365 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Adrenal hypoplasia, Morga... |
OMIM:613177 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Increased serum lactate |
OMIM:615809 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... |
OMIM:209900 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Thrombocytopenia... |
ORPHA:2785 |
| Alg9-Cdg |
|
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary |
ORPHA:79328 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Metabolic alkalosis, Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:616239 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Metabolic acidosis, Elevated circulating creatinine concentration |
OMIM:614723 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Liver Disease, Severe Congenital |
|
Leukopenia, Hypocalcemia, Lymphocytosis, Cough, Elevated hepatic iron concentration, Hyponatremia... |
OMIM:619991 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Increased serum lactate, Delayed puberty |
ORPHA:496790 |
| Lymphangioleiomyomatosis |
|
Fever, Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Restrictive ventilat... |
ORPHA:538 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra... |
OMIM:619405 |
| Developmental And Epileptic Encephalopathy 51 |
|
Elevated lactate:pyruvate ratio, Failure to thrive, Increased serum lactate |
OMIM:617339 |
| Liver Failure, Infantile, Transient |
|
Lactic acidosis, Increased serum lactate, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Increased serum lactate, Hypopnea, Growth delay, Respiratory failure, Neutropenia, Neonata... |
OMIM:617248 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Increased serum lactate, Intrauterine growth retardation, Neonatal hypoglycemia, Congenital foot ... |
ORPHA:565624 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated lactate:pyruvate ratio, Hypoglycemia, Increased serum lactate, Lactic ... |
OMIM:124000 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased serum lactate, Apnea |
OMIM:612949 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Elevated circulating creatine kinase concentration, Respiratory ... |
ORPHA:365 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Respiratory... |
OMIM:618252 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Increased serum lactate, Abnormal circulating creatine kinase concentration, Abnormal circulating... |
ORPHA:521411 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Short stature, Hypoxemia, Pulmonary arterial hypertension, Intr... |
ORPHA:2282 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentration, Increased... |
ORPHA:254892 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Atelectasis, Splenomegaly, Respiratory insufficiency, Pulmonary hyp... |
OMIM:269860 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Repeated pneumothoraces, Postnatal growth reta... |
ORPHA:536467 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Increased serum lactate, Neonatal respiratory distress, Metabolic acidosis |
OMIM:619053 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
| Granulomatous Disease, Chronic, X-Linked |
|
Fever, Cough, Atelectasis, Splenomegaly, Recurrent pneumonia, Impaired oxidative burst, Granuloma... |
OMIM:306400 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Hypoplasia of the ovary, Decreased testicular size |
OMIM:619321 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Lactic acidosis, Metabolic acidosis, Hyperbilirubinemia, Fai... |
OMIM:606812 |
| Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... |
ORPHA:51636 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Hypoglycemia, Short stature, Corneal scarring, Growth delay, Lactic acidosi... |
OMIM:256810 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Increased serum lactate, Flexion contracture |
ORPHA:137898 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Metabolic acidosis, Abnormality of circulating enzyme level, Failure t... |
ORPHA:93598 |
| Digeorge Syndrome |
|
Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ... |
OMIM:188400 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Lactic acidosis, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Increas... |
OMIM:614924 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Metaboli... |
ORPHA:786 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Increased serum lactate, Lactic acidosis, Intrauterine growth retardation,... |
ORPHA:572798 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Increased serum lactate, Microcytic anemia |
OMIM:618972 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Increased serum lactate, Failure to thrive |
OMIM:613559 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Short stature, Abnormal dental enamel morph... |
ORPHA:567 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Small for gestational age, Hypoglycemia, Increased serum lactate, Tachypnea, Hyp... |
OMIM:220111 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Metabolic acidosis, Hypoglycemia |
OMIM:201450 |
| Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... |
ORPHA:1572 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Lactic acidosis, Bradypnea, Respiratory failure, Increased serum lactate |
OMIM:617186 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Metabolic acidosis, Neonatal death |
OMIM:602199 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Increased serum lactate, Hyperalaninemia, Failure to thrive |
OMIM:618249 |
| Hawkinsinuria |
|
Hypertyrosinemia, Failure to thrive, Metabolic acidosis |
OMIM:140350 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Fever, Elevated circulating alpha-fetopro... |
OMIM:615273 |
| Nocardiosis |
|
Respiratory distress, Fever, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumotho... |
ORPHA:31204 |
| Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp... |
ORPHA:69085 |
| Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia of the uterus, Clitoral hypopl... |
ORPHA:709 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Central hypothyroidism, Micropenis, Annular pancreas |
ORPHA:798 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Short stature, Overweight, Metabolic acidosis, Renal tubular ac... |
OMIM:619575 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Short stature, Increased serum lactate, Obesity, Respiratory arrest |
OMIM:614947 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Hypercholesterolemia, Emphysema, Ab... |
ORPHA:363618 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Increased serum lactate |
ORPHA:438114 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Amish Lethal Microcephaly |
|
Metabolic acidosis, Temperature instability |
ORPHA:99742 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased serum lactate, Mildly elevated creatine kinase, Respiratory insufficiency, Weight loss |
OMIM:607459 |
| Sudden Cardiac Failure, Infantile |
|
Metabolic acidosis |
OMIM:617222 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Increased serum lactate, Pancytopenia, Recurrent fever |
OMIM:618321 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... |
OMIM:261540 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Primary Hyperoxaluria |
|
Metabolic acidosis, Hyperoxaluria, Failure to thrive, Acrocyanosis |
ORPHA:416 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Beta-Ureidopropionase Deficiency |
|
Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Metabolic ac... |
OMIM:613161 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous malformation, Dyspnea, Hemoth... |
OMIM:187300 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary artery dilatation, Recurrent respiratory infections, Inguinal hernia, Short stature, An... |
OMIM:619534 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Increased serum lactate |
OMIM:620089 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... |
ORPHA:99413 |
| Turner Syndrome |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... |
ORPHA:99228 |
| Monosomy X |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... |
ORPHA:99226 |
| Hyperoxaluria, Primary, Type I |
|
Metabolic acidosis, Hyperoxaluria, Acrocyanosis |
OMIM:259900 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Increased serum lactate |
OMIM:618598 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Yellow Fever |
|
Fever, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated c... |
ORPHA:99829 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased serum lactate, Hypergonadotropic hypogonadism, Testicular atrophy |
OMIM:157640 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased serum lactate |
ORPHA:70595 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Hypoventilation, Failure to thrive, Increased serum lactate |
OMIM:203700 |
| Relapsing Polychondritis |
|
Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough |
ORPHA:728 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Increased serum lactate |
OMIM:616811 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Increased serum lactate |
ORPHA:478029 |
| Cerebrotendinous Xanthomatosis |
|
Increased serum lactate, Abnormal lung morphology, Hypothyroidism |
ORPHA:909 |
| Microvillus Inclusion Disease |
|
Metabolic acidosis |
ORPHA:2290 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus |
OMIM:236680 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
| Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puberty |
ORPHA:649 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
