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Gene: Hif1an MGI:2442345

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Gene Summary

Name:
hypoxia-inducible factor 1, alpha subunit inhibitor
Synonyms:
FIH,  A830014H24Rik,  2310046M24Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Hif1anem1(IMPC)Mbp HOM   Early adult 0.00
small liver Hif1anem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Hif1anem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Hif1anem1(IMPC)Mbp HOM Early adult 0.00
prolonged QRS complex duration Hif1anem1(IMPC)Mbp HOM Early adult 6.08×10-05
abnormal spleen morphology Hif1anem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Hif1anem1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Hif1anem1(IMPC)Mbp HOM Early adult 2.22×10-05
abnormal liver morphology Hif1anem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Hif1anem1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Hif1anem1(IMPC)Mbp HOM Early adult 0.00
abnormal coat/hair pigmentation Hif1anem1(IMPC)Mbp HOM Early adult 1.66×10-11

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

54 Images

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Human diseases caused by Hif1an mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hif1an by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:324575
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepat... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Jaundice, Enlarged kidney, Hepatocellular ... OMIM:619902
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Decreased circulating free... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Maternal diabetes, Syncope... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Splenomegaly, Hepatomegaly ORPHA:2274
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity, Hypertension, Congestive heart failure, H... OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Diabetes mellitus, Myocardial infarction, Hypercholesterolemia, Obesity OMIM:608320
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Acute Liver Failure
Hypotension, Adrenal insufficiency, Elevated hepatic transaminase, Shock, Hypoglycemia, Abnormal ... ORPHA:90062
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Decreased circulating aldosterone level, Hyperkalemic metabolic acidosis, Decreased ... ORPHA:90794
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Hypocapnia, Right bundle branch block, Abnor... ORPHA:70591
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal T-wave, Hypocapnia, Hyperphosphatemia, Hepatic failure, Rhabdomyolysis, Sin... ORPHA:466650
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... OMIM:607624
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, D... OMIM:612526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, Hyperlipidemia, Hyperglycemia, Obesity ORPHA:329249
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Failure to thriv... ORPHA:181393
Citrullinemia Type I
Hepatic failure, Torticollis, Ataxia, Failure to thrive, Respiratory alkalosis, Hyperammonemia, L... ORPHA:247525
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Exercise-induced rhabdomyolysis, Elevated hepatic transaminase, Elevate... ORPHA:26793
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... ORPHA:276608
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Supraventricular tachycardia, Abnormality of masseter muscle, High-output cong... ORPHA:423
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts, Multiple small medullary renal cysts, Periport... OMIM:263200
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Renal Fanconi syndrome, Glycosuria, Metabolic ketoaci... ORPHA:263455
Oculopharyngodistal Myopathy 1
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Difficulty walki... OMIM:164310
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... ORPHA:71526
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... ORPHA:79237
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal atrioventricular conduction, Reduced left ventricular ejec... ORPHA:45452
Staphylococcal Necrotizing Pneumonia
Hypotension, Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Alcoholis... ORPHA:36238
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... OMIM:615160
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Malformation of the hepatic ... OMIM:615415
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Inappropriately normal thyro... OMIM:301033
Congenital Generalized Lipodystrophy
Precocious puberty in females, Increased C-peptide level, Hyperinsulinemia, Cirrhosis, Insulin re... ORPHA:528
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... OMIM:208540
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... OMIM:619868
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Elevated hepatic transaminase, Elevated circulating creatine kinase concentr... OMIM:613327
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... ORPHA:99886
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:488650
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Hyperuricemia, Increased serum lactat... OMIM:613845
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Cyanosis, Hypocapnia, Systolic heart murmur, Bronchiectasis, Abn... ORPHA:980
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Respiratory insufficiency, Supraventricular tachycardia, Fatty replacement of skeletal muscle, El... OMIM:255100
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Left ventricular hypertrophy,... ORPHA:251274
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Elev... ORPHA:264675
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Hyperaldosteronism, Hypokalemia, Intracranial hemorrhage, Hypert... ORPHA:369929
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas, Graves disease, Palpitations, Chondrocalcinosis, G... ORPHA:358
Aa Amyloidosis
Hypotension, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnorma... ORPHA:85445
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoornithinemia, Jaundice, Tachypnea, Lactic acidosis, Increased serum lactate,... OMIM:615751
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperactivity, Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, R... ORPHA:363400
Glycogen Storage Disease Ixa1
Hyperuricemia, Elevated hepatic transaminase, Lactic acidosis, Hypoglycemia, Hepatomegaly, Hyperc... OMIM:306000
Glucocorticoid Resistance, Generalized
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... OMIM:615962
Mitochondrial Complex I Deficiency, Nuclear Type 2
Respiratory insufficiency, Falls, Apneic episodes in infancy, Apnea, Hypercapnia, Hypertrophic ca... OMIM:618222
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic fibrosis, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... ORPHA:280356
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... OMIM:613697
East Syndrome
Hyperaldosteronism, Inability to walk, Lower limb muscle weakness, Hypokalemia, Increased circula... ORPHA:199343
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Beta-Ketothiolase Deficiency
Oral aversion, Hypotension, Hyperuricemia, Weight loss, Acidosis, Hypertension, Agitation, Ataxia... ORPHA:134
Fructose-1,6-Bisphosphatase Deficiency
Hyperuricemia, Hyperalaninemia, Episodic tachypnea, Intermittent hyperventilation, Intermittent l... ORPHA:348
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Polyphagia, Hyperlipidemia... OMIM:617885
Scorpion Envenomation
Cardiogenic shock, Abnormal nasal mucus secretion, Increased circulating creatine kinase MB isofo... ORPHA:466677
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentra... ORPHA:159
Propionic Acidemia
Cerebellar hemorrhage, Cardiomyopathy, Hyperglycinemia, Limb hypertonia, Lactic acidosis, Apnea, ... OMIM:606054
Sitosterolemia 2
Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia OMIM:618666
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatic failure, Cholestatic liver disease, Decreased circulating ceruloplasmin concen... OMIM:616828
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... OMIM:619048
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis, Hyp... OMIM:222100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... OMIM:201475
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Decreased body weight, Failure to thrive, Increased blood urea nitrogen, Hyperam... OMIM:620085
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... OMIM:613694
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:66628
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... OMIM:616829
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hepatic steatosis, Increased intraabdominal fat, Hepatomegal... OMIM:151660
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transaminase, Neonatal hypoglycemia... OMIM:212138
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:171706
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:179494
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Elevated serum bicarbonate concentration, Hypokalemia, Increased circulating ... OMIM:214700
Potocki-Lupski Syndrome
Hypothyroidism, Hyperactivity, Small for gestational age, Failure to thrive, Hypocholesterolemia,... OMIM:610883
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Adult Acute Respiratory Distress Syndrome
Hypotension, Diabetic ketoacidosis, Hypoxemia, Shock, Dyspnea, Abnormal blood gas level, Respirat... ORPHA:70578
Acute Lung Injury
Increased circulating surfactant protein level, Hypoxemia, Respiratory distress, Alcoholism, Diff... ORPHA:178320
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Hypertension, Intracranial he... ORPHA:404
Gitelman Syndrome
Hypotension, Rhabdomyolysis, Hypokalemia, Increased circulating renin level, Ataxia, Hypokalemic ... OMIM:263800
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly OMIM:610539
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Hypokalemia, Increased circulating ACTH level, Pituitary adenoma, Hyp... OMIM:219090
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Synophrys, Hypertrophic cardiomyopathy, Hirsutism, Bone marrow hypocellula... OMIM:617303
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... ORPHA:231580
Bronchopulmonary Dysplasia
Hyperoxemia, Tracheobronchomalacia, Small for gestational age, Abnormal respiratory system physio... ORPHA:70589
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circula... OMIM:600649
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... ORPHA:97279
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Abnormality of ... ORPHA:563
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Left ventricular outflow tract obstruction, Cardiac shunt, Heart murmur, Small for gest... ORPHA:860
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Pediatric-Onset Graves Disease
Hyperactivity, Sinus tachycardia, Jaundice, Increased circulating T4 concentration, Elevated hepa... ORPHA:525731
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated ci... ORPHA:370
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture, Elbow flexion contracture, Hypoplasia of the musculature, Dysphagia, Aspirat... ORPHA:2020
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Steppage gait, Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia OMIM:607250
Sandhoff Disease
Motor deterioration, Congestive heart failure, Hepatomegaly, Splenomegaly, Progressive psychomoto... ORPHA:796
Temple Syndrome
Hypertriglyceridemia, Flexion contracture, Precocious puberty, Small for gestational age, Maturit... OMIM:616222
Nephronophthisis 19
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... OMIM:616217
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Cholesterol-Ester Transfer Protein Deficiency
Tendon xanthomatosis, Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidem... ORPHA:79506
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... ORPHA:264580
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ... ORPHA:75234
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... OMIM:269600
Complete Atrioventricular Septal Defect
Cyanosis, Systolic heart murmur, Crackles, Hepatomegaly, Abnormal P wave, Lethargy, Wheezing, Thi... ORPHA:1329
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Steppage gait, Distal lower limb muscle weakness, Hypercholesterolemia, Distal amyotrophy... ORPHA:94124
Citrullinemia Type Ii
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Hepatic fibrosis, Hepatocellular carci... ORPHA:247585
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Limb-girdle muscle weakness, Renal tubular acidosis, Ketotic hypogly... ORPHA:79240
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Postprandial hyperlactemia, Intermittent lactic acidemia, Hepatocell... ORPHA:369
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cor... ORPHA:231625
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism, Reduced maximal inspiratory pressure, Ventilator dependence with inability to wea... ORPHA:505395
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Abnormal circulating creatine kinase concentration, Hypothyroidism, Right bundle branch block, De... ORPHA:263297
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Hepatocellular Carcinoma
Hypotension, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hyponatremia, Hemobilia, ... ORPHA:88673
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... OMIM:278000
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, G... ORPHA:552
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Elevated circulating acylcarnitine concentration, Hypothyroidism, Premature t... OMIM:616878
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:601493
Whipple Disease
Respiratory insufficiency, Hypotension, Hypothyroidism, Cachexia, Insulin resistance, Ataxia, Per... ORPHA:3452
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Choking episodes, Syncope, Respiratory distress, Failure to thrive, Re... ORPHA:60032
Mandibuloacral Dysplasia
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... ORPHA:2457
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:615838
Nephronophthisis 2
Pulmonary insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Hypertension, Chronic t... OMIM:602088
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Hyperuricemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II ... OMIM:604367
Histiocytoid Cardiomyopathy
Cyanosis, Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome... ORPHA:137675
Trimethylaminuria
Anemia, Trimethylaminuria, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Acquired Methemoglobinemia
Cyanosis, Syncope, Hypoxemia, Respiratory distress, Acidosis, Dyspnea, Palpitations, Arrhythmia, ... ORPHA:464453
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Tachycardia, Hypoglycemia, Dyspnea, Hepatomegaly, Lethargy, Hyperventilation, Metabolic ac... OMIM:229700
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Decreased circulating renin level, Hypokalemia, Primary hyperald... OMIM:615474
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Hyperglycinemia, Respiratory distress, Ataxia, Dilated cardiomyopathy,... OMIM:614299
Coproporphyria, Hereditary
Respiratory paralysis, Jaundice, Hypertension, Tachycardia, Hepatomegaly, Splenomegaly OMIM:121300
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Episodic ammonia intoxication, Ataxia, Failure to thrive, Respiratory alkalosis, Hyperammonemia, ... OMIM:237300
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Elevated hepatic transaminase, Congestive heart failure, Hep... OMIM:613313
Obesity Due To Sim1 Deficiency
Hypotension, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity, Glu... ORPHA:369873
Tyrosinemia Type 1
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... ORPHA:882
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Dyspnea,... OMIM:610476
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Hypertension, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria,... OMIM:105200
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Liver abscess, Sclerosing cholangitis, Neoplasm of the liver, ... ORPHA:69663
Cystinosis
Hypothyroidism, Hypophosphatemia, Hypokalemia, Gait disturbance, Type I diabetes mellitus, Failur... ORPHA:213
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Lactic acidosis, In... OMIM:606407
Snakebite Envenomation
Neuromuscular dysphagia, Hypotension, Rhabdomyolysis, Respiratory paralysis, Cerebral ischemia, P... ORPHA:449285
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Avian Influenza
Pneumothorax, Rhabdomyolysis, Productive cough, Hepatitis, Hypoxemia, Respiratory distress, Eleva... ORPHA:454836
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypocholesterolemia, Hyp... OMIM:246700
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Ataxia, Steatorrhea, Failure to thrive, Hepatom... OMIM:266510
Huntington Disease
Gait imbalance, Weight loss, Abnormal circulating cholesterol concentration, Inability to walk, C... ORPHA:399
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Spastic gait, Hepatitis, Elevated hepatic transaminase, Failure to thrive, Respi... ORPHA:415
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Hyperbilirubinemia, Hypoxemia, Elevated ... ORPHA:542323
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... OMIM:607765
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Failure to thrive, Delayed puberty, Decreased HDL choles... OMIM:616834
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Increased circulating surfactant protein l... ORPHA:2257
Central Diabetes Insipidus
Diabetes insipidus, Weight loss, Failure to thrive, Hyponatremia, Lethargy, Polydipsia ORPHA:178029
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Congenital Disorder Of Glycosylation, Type It
Pulmonary arterial hypertension, Sudden cardiac death, Elevated circulating alanine aminotransfer... OMIM:614921
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corticomedullary differenti... ORPHA:731
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypotension, Cardiac arrest, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, ... ORPHA:70587
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Elevated circulatin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Elevated circulatin... ORPHA:98853
Cog4-Cdg
Cirrhosis, Limb hypertonia, Elevated hepatic transaminase, Ataxia, Hepatosplenomegaly, Hyperchole... ORPHA:263501
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Tendon xanthomatosis, Hypercholest... OMIM:603813
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Increased serum lactate, Elevated lactate:pyruvate ratio, Hypergonado... OMIM:619737
Laron Syndrome
Hypoglycemia, Delayed puberty, Truncal obesity, Hypercholesterolemia, Abnormality of the endocrin... ORPHA:633
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Weight loss, Hypoxemia, Respiratory distress, Crackles, Restrictive venti... ORPHA:1302
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... OMIM:609734
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Elevated circulatin... ORPHA:98863
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... ORPHA:320
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Hyperuricemia, Metabolic acidosis, Weight loss, Cardiac arrest, Nonketotic hypoglyce... ORPHA:20
Analbuminemia
Hypotension, Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholest... OMIM:616000
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depr... ORPHA:90065
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... ORPHA:90674
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypophosphatemia, Failure to thrive, Elevated circulating parathyroid hormone level, ... OMIM:239200
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad... OMIM:619386
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory distress, Failure to thrive, Cough, Respiratory failure, Tachypnea OMIM:263000
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Elevated circulat... OMIM:610978
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Tyrosinemia, Type I
Cirrhosis, Anemia, Hepatic failure, Enlarged kidney, Ascites, Hepatocellular carcinoma, Elevated ... OMIM:276700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Hydronephrosis, Elevated circulating alanine aminotransferase... OMIM:608836
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Small for gestational age, Decreased circulating renin l... OMIM:218030
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... OMIM:620010
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Recurrent pneumonia, Polyphagia, Obesity OMIM:614962
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hyperuricemia, Hypertension, Abnormality of the endocrine system, Diabetes mellit... ORPHA:77296
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphology, Abnor... ORPHA:464329
Sepsis In Premature Infants
Cyanosis, Hypotension, Decreased body weight, Small for gestational age, Nasal flaring, Jaundice,... ORPHA:90051
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Jaundice, Scarring alopecia of scalp, Choles... ORPHA:59303
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, ... OMIM:614857
Glycogen Storage Disease Ib
Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Hypertension, Elevated hepatic transamin... OMIM:232220
Familial Hyperaldosteronism Type I
Hypokalemia, Hypertension, Intracranial hemorrhage, Adrenal hyperplasia, Epistaxis, Secretory adr... ORPHA:403
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... ORPHA:231632
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Diabetes mellitus, Dyspnea, Cough, Respiratory failure requiring... ORPHA:140896
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Elevated circulating C-reac... OMIM:616414
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Elevated circulatin... ORPHA:98855
Multiple Carboxylase Deficiency
Metabolic ketoacidosis, Respiratory distress, Ataxia, Hyperammonemia, Lethargy, Limb muscle weakn... ORPHA:148
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Increased serum lactate, Weakness of facial m... OMIM:616239
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... ORPHA:293964
Hereditary Central Diabetes Insipidus
Lethargy, Diabetes insipidus, Polydipsia, Weight loss ORPHA:30925
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Reduced subcutaneous adipose tissue, Pleural effusion, Hypercholesterolem... OMIM:606721
Citrullinemia, Classic
Cirrhosis, Episodic ammonia intoxication, Ataxia, Failure to thrive, Respiratory alkalosis, Hyper... OMIM:215700
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal circulating lipid concentration, Cirrhosis, Hepatic failure, Decreased l... ORPHA:77293
Chylomicron Retention Disease
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, EMG: myopathic abnormalities, H... ORPHA:71
Ethylene Glycol Poisoning
Cyanosis, Hypotension, Facial palsy, Hyperkalemia, Congestive heart failure, Ataxia, Hypertension... ORPHA:31826
Dysbetalipoproteinemia
Hypercholesterolemia, Hypothyroidism, Tendon xanthomatosis, Obesity, Angina pectoris, Hepatic ste... ORPHA:412
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Decreased LDL cholesterol concentration, Decreased body weight, Limb-girdle m... ORPHA:96180
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Abetalipoproteinemia
Hypothyroidism, Elevated hepatic transaminase, Hepatic steatosis, Steppage gait, Hepatomegaly, Hy... ORPHA:14
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Jaundice, Pancytopenia, Hypopigmentation of hai... ORPHA:79477
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Chronic Pneumonitis Of Infancy
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... ORPHA:91359
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:608594
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hypoglycemia, Abnormal pattern of respiration, Increased serum pyruvate, Hepatome... ORPHA:3008
Naxos Disease
Sudden cardiac death, Ventricular arrhythmia, Palpitations, Subungual hyperkeratosis, Sparse body... OMIM:601214
Liddle Syndrome 3
Metabolic alkalosis, Hypokalemia, Hypertension OMIM:618126
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Cholestasis-Lymphedema Syndrome
Cirrhosis, Abnormality of skin pigmentation, Jaundice, Acholic stools, Biliary tract abnormality,... ORPHA:1414
Hemochromatosis, Type 2A
Cirrhosis, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Arrhythmia, Hyperpigme... OMIM:602390
Progressive Familial Intrahepatic Cholestasis
Cognitive impairment, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly ORPHA:172
Hereditary Coproporphyria
Respiratory insufficiency, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma... ORPHA:79273
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Polydipsia, Cough, Bronchiectasis OMIM:619468
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exertional dyspnea, Rhabdomyolysis, Highly elevated creatine kinase, Glycogen accumulation in mus... ORPHA:368
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Splenomegaly OMIM:607685
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Systolic heart murmur, Airway obstruction, Palpitations, Abnormal P wave, Tricuspid reg... ORPHA:99106
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Polyphagia OMIM:618406
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Ataxia, Lactic acidosis, Hypertrophic cardiomyopathy, Hypoglycemia... OMIM:246900
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... ORPHA:254516
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... OMIM:604320
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Calcinosis, Impaired gluc... OMIM:248370
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Ventricular arrhythmia, Supraventr... ORPHA:280365
Cholera
Hypotension, Aspiration pneumonia, Hypokalemia, Acidosis, Abnormal blood ion concentration, Lacti... ORPHA:173
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Elevated circulating alanine aminotransfer... OMIM:605814
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hypothyroidism, Foot joint contracture, Aplasia/Hypoplasia of the pancreas, Joint contracture of ... ORPHA:456312
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia... OMIM:307030
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Nocturnal hypoventilation, Hypoxemia, Apnea, Hypercapnia, Central hypoventilatio... OMIM:209880
Squalene Synthase Deficiency
Knee flexion contracture, Decreased LDL cholesterol concentration, Elbow flexion contracture, Ele... OMIM:618156
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Acidosis, Myocardial infarction, Abnormality of venous physiology, ... ORPHA:90064
Galactosemia Iii
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Acute Interstitial Pneumonia
Cyanosis, Bronchiectasis, Hypoxemia, Hypertension, Pleural effusion, Crackles, Dyspnea, Elevated ... ORPHA:79126
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... ORPHA:96184
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia, Tachycardia OMIM:601887
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating creatine kinase concentrat... OMIM:208920
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Pulmonary insufficiency, Mat... ORPHA:70588
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:269700
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Incr... OMIM:182290
Alpha-Thalassemia
Anemia, Splenomegaly, Cognitive impairment, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal h... ORPHA:846
Schaaf-Yang Syndrome
Flexion contracture, Inability to walk, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Sle... OMIM:615547
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Abnormal cardiac ventricular function, Decreased plasma carnitine, Elevated hepa... ORPHA:2394
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hypobetalipoproteinemia, Familial, 1
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... OMIM:615558
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hepatic failure, Renal tubular acidosis, Elevated hepatic transaminase, Tra... ORPHA:156
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Pyloric Stenosis, Infantile Hypertrophic, 1
Failure to thrive, Hypochloremic metabolic alkalosis OMIM:179010
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Episodic tachypnea, Apnea, Loss of ambulation, Dysphagia, Tachycardia ORPHA:79264
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating alanine aminotransferase concentration, Elevated circulating uracil concentr... OMIM:311250
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Abnormal magnesium concentration, Hypokalemia, Hypokalemic alka... OMIM:241150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... OMIM:619566
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... OMIM:619658
H Syndrome
Alopecia, Abnormal eyebrow morphology, Facial telangiectasia, Enlarged kidney, Abnormality of the... ORPHA:168569
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran... OMIM:115197
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Hypertension, Myocardial infarction, Increased LDL cholesterol concent... OMIM:615812
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Alopecia, Ne... OMIM:615559
Argininosuccinic Aciduria
Hepatic fibrosis, Episodic ammonia intoxication, Ataxia, Elevated circulating aspartate aminotran... OMIM:207900
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Autosomal Dominant Progressive External Ophthalmoplegia
Respiratory insufficiency, Hypothyroidism, Ventricular arrhythmia, Elevated hepatic transaminase,... ORPHA:254892
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Lactic acidosis, Increased serum lactate, Hypoglycemia, Increased serum pyr... OMIM:614741
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Congestive heart failure, Increased circulating free T3, Decreased th... OMIM:275000
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Hepatic fibrosis, Flexion contracture, Hypothyroidism, Abnormal subcutaneous fat ... OMIM:212065
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Dilated cardiomyopathy, Aortic regurgitation, Overweight, Renovascular... ORPHA:401923
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Synophrys, Asymmetric septal hypertrophy, Hirsutism, Progressive neurologic ... OMIM:252920
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Hirsutism, Enlarged polycystic ovaries ORPHA:90301
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force... ORPHA:1303
Glycogen Storage Disease Ia
Enlarged kidney, Hepatocellular carcinoma, Hypertension, Elevated hepatic transaminase, Decreased... OMIM:232200
Tetanus
Respiratory distress, Hypertension, Elevated circulating creatine kinase concentration, Dysphagia... ORPHA:3299
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... OMIM:619662
Myotonic Dystrophy 2
Right bundle branch block, Insulin insensitivity, Hypogonadism, Generalized amyotrophy, Type II d... OMIM:602668
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Tachypnea, Lactic acidosis, Aortic regurgitation, Hyp... OMIM:616501
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... ORPHA:769
Interstitial Lung And Liver Disease
Respiratory insufficiency, Hypothyroidism, Hepatic fibrosis, Elevated circulating alanine aminotr... OMIM:615486
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss, Hypoxemia, Chronic pulmonary obstruction, Emphysema, Inspiratory cra... ORPHA:79127
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Exertional dyspnea, Cachexia, Elevated hepatic transaminase, Ataxia, Eleva... ORPHA:42
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... ORPHA:79644
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, Enlarged kidney, ST segment depression, Congestive heart failure, ... OMIM:261740
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia OMIM:615986
Alpha-Heavy Chain Disease
Alopecia, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatemic... ORPHA:2126
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa... OMIM:200995
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... OMIM:232400
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Central hypothyroidism, Gonadotropin deficiency, Elevated hepatic transaminase, Central... ORPHA:293987
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Bone marrow hypocellularity, Thrombocytopenia, H... ORPHA:505248
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Abnormal circulating creatine kinase concentration, Reduced l... ORPHA:217607
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Paroxysmal Extreme Pain Disorder
Rhinorrhea, Bradycardia, Tachycardia OMIM:167400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... ORPHA:247598
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... ORPHA:300373
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hyperaldosteronism, Elevated serum bicarbonate concentration, Dysdiadochokinesis, Hypokalemia, In... OMIM:612780
Diaphanospondylodysostosis
Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Hypoplastic fingernail, Nephr... OMIM:608022
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Mental deterioration, Throm... OMIM:607616
Bacterial Toxic-Shock Syndrome
Hypotension, Myocarditis, Cellulitis, Hepatitis, Fasciitis, Peritonitis, Respiratory distress, El... ORPHA:36234
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentra... OMIM:609015
Double Outlet Right Ventricle
Cyanosis, Heart murmur, Aplasia/Hypoplasia of the thymus, Failure to thrive, Tachycardia, Hypopar... ORPHA:3426
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Increased pulmonary capillary wedge pressure, Abn... ORPHA:97292
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased plasma carnitine, Elevated hepatic... ORPHA:71212
Lysosomal Acid Lipase Deficiency
Hypotension, Cachexia, Elevated hepatic transaminase, Primary adrenal insufficiency, Hepatospleno... ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... OMIM:617872
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Impaired ... OMIM:261680
Bickerstaff Brainstem Encephalitis
Ataxia, Hypercapnia, Weakness of facial musculature, Dyspnea, Facial paralysis, Respiratory failu... ORPHA:79138
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Hypospadias, Generalized hyperpigmentation ORPHA:1355
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hypertension, Hepatic steatosis, Diabetes mellitus, Hepatom... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Steinert Myotonic Dystrophy
Respiratory insufficiency, Inability to walk, Elevated hepatic transaminase, Secondary hyperparat... ORPHA:273
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Nephrotic syndrome, Fair hair, Congestive heart failure, Hepatomega... OMIM:269920
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Irritability, Splenomegaly OMIM:615010
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level, Hypokalemia, Hypokale... OMIM:177200
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss, Asthma, Hypoxemia, Pleural effusion, Crackles, Restrictive ventilatory defect, Dyspn... ORPHA:2902
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Pulmonary arterial hypertension, Cyanosis, Bronchiectasis, Interstitia... OMIM:610913
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... OMIM:617394
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hypertrophic cardiomyopathy, Increased serum lactate, Hepatomegaly OMIM:618810
Holocarboxylase Synthetase Deficiency
Weight loss, Respiratory distress, Ataxia, Hyperammonemia, Lethargy, Tachypnea ORPHA:79242
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Abnormal circulating calcium concentration, Cyanosis, Pneumothorax, Ex... ORPHA:60025
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... OMIM:614963
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Griscelli Syndrome
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Hepatitis, Iris hypopigmentat... ORPHA:381
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Elevated diastolic blood pressure, Hypovolemia, Increased ci... ORPHA:90041
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Reduced renal corticomedullary differentiation, ... OMIM:618541
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Choreoathetosis, Gait disturbance, Ataxia, Dyspnea, Lethargy, Tachypnea ORPHA:765
Asbestos Intoxication
Cyanosis, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Reduced forced vital capacity... ORPHA:2302
Graft Versus Host Disease
Hyperbilirubinemia, Fasciitis, Elevated hepatic transaminase, Jaundice, Hepatosplenomegaly, Myosi... ORPHA:39812
Diffuse Alveolar Hemorrhage
Weight loss, Hypoxemia, Restrictive ventilatory defect, Airway obstruction, Dyspnea, Cough, Pulmo... ORPHA:90060
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Irritability, Splenomega... OMIM:613489
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Cognitive impairment, Right bundle branch block, Left ventricular systolic dysfunction, Dilated c... ORPHA:206559
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal... ORPHA:439232
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Increased LDL cholesterol concentr... ORPHA:209902
Classic Mycosis Fungoides
Alopecia, Irregular hyperpigmentation, Abnormality of the nail, Hypopigmented skin patches, Lymph... ORPHA:2584
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma OMIM:248100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hyperlipidemia, Hyperc... ORPHA:79259
Neonatal Lupus Erythematosus
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... ORPHA:398124
Atypical Rett Syndrome
Gait ataxia, Inability to walk, Episodic tachypnea, Gait disturbance, Agitation, Loss of ambulati... ORPHA:3095
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hyperinsulinemia, Cirrhosis, Insulin resistance, Hypert... ORPHA:79086
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Smith-Magenis Syndrome
Hypothyroidism, Precocious puberty, Gait disturbance, Obesity, Delayed puberty, Attention deficit... ORPHA:819
Lymphoid Interstitial Pneumonia
Abnormality of connective tissue, Bronchiectasis, Weight loss, Raynaud phenomenon, Hypoxemia, Fai... ORPHA:79128
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Hypertension, Episodic hemolytic anemi... ORPHA:251004
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Small nail, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... OMIM:615631
Tenorio Syndrome
Raynaud phenomenon, Gait disturbance, Syncope, Macroglossia, Apnea, Recurrent pneumonia, Hypoglyc... OMIM:616260
Alg12-Cdg
Camptodactyly, Elevated hepatic transaminase, Chronic rhinitis, Failure to thrive, Recurrent pneu... ORPHA:79324
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Large for gestational age, Hypogonadism OMIM:617119
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, ... ORPHA:567548
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Weight loss, Hypokalemia, Increased circulating T4 concentration, Decreased thyr... OMIM:613239
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Inability to walk, Decreased plasma carnitine, ... ORPHA:26791
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Wolfram Syndrome
Respiratory insufficiency, Diabetes insipidus, Hypogonadism, Ataxia, Male hypogonadism, Diabetes ... ORPHA:3463
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations, Tachycardia, Goiter OMIM:188580
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypertension, Adrenal hyperpl... OMIM:613677
Harderoporphyria
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal... OMIM:618892
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Cognitive impairment, Periportal f... ORPHA:64743
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Serotonin Syndrome
Hypotension, Hepatic failure, Rhabdomyolysis, Hypertension, Agitation, Lactic acidosis, Restlessn... ORPHA:43116
Porphyria Variegata
Abnormal circulating porphyrin concentration, Abnormality of the liver, Respiratory paralysis, Sc... ORPHA:79473
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Pneumothorax, Bronchiectasis, Hypoxemia, Emphysema, Pleural effu... OMIM:612387
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Elevated circulating alanine aminotransferase concentration, Hyperglyc... OMIM:245400
Relapsing Fever
Increased total bilirubin, Hypotension, Jaundice, Elevated hepatic transaminase, Epistaxis, Cough... ORPHA:91547
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Abnormal EKG, Elevate... ORPHA:2041
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... OMIM:214900
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Choreoathetosis, Ataxia, Elevated circulating creatine kinase concentration, Elev... ORPHA:64753
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Liddle Syndrome 2
Decreased circulating aldosterone level, Decreased circulating renin level, Hypokalemia, Hyperten... OMIM:618114
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Small for gestational age, Lacti... OMIM:618253
Secondary Short Bowel Syndrome
Central hypothyroidism, Weight loss, Abnormal blood ion concentration, Steatorrhea, Failure to th... ORPHA:95427
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Small for gestational age, Lactic acidosis, Pleural effusion, Failure to thrive,... OMIM:614702
Congenital Tricuspid Valve Dysplasia
Cyanosis, Systolic heart murmur, Tricuspid regurgitation, Small for gestational age, Hypoxemia, H... ORPHA:555874
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Ataxia-Telangiectasia
Cognitive impairment, Mucosal telangiectasiae, Premature graying of hair, Aplasia/Hypoplasia of t... ORPHA:100
Gaucher Disease Type 2
Cardiac arrest, Splenomegaly, Hepatomegaly ORPHA:77260
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Polyphagia, Obesity, Broad-based gait ORPHA:411515
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Erdheim-Chester Disease
Diabetes insipidus, Retroperitoneal fibrosis, Weight loss, Congestive heart failure, Ataxia, Pleu... ORPHA:35687
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Hyperuricemia, Diabetes insipidus, Decreased response to growth... OMIM:203800
Hemochromatosis, Type 1
Alopecia, Cirrhosis, Telangiectasia, Hepatocellular carcinoma, Congestive heart failure, Elevated... OMIM:235200
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Lactic acidosis, Increased hepatic glycogen content, In... OMIM:613027
Placental Insufficiency
Small for gestational age, Insulin resistance, Hypoxemia ORPHA:439167
16P12.1P12.3 Triplication Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Failure to thrive, Attentio... ORPHA:485405
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Congenital Analbuminemia
Low pulse pressure, Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoprote... ORPHA:86816
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Tendon xanthomatosis, Dysdiadochokinesis, Gait disturbance, Ataxia, Dysmetr... OMIM:277460
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration OMIM:614025
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98754
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Lysinuric Protein Intolerance
Respiratory insufficiency, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hyper... ORPHA:470
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Rhabdomyolysis, Dilated cardiomyopathy, Elevated circulating creatine kinase conc... OMIM:618120
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hyperglycinemia, Methylmalonic acidemia, Metabolic ketoacidosis, Respirato... OMIM:251000
Hydroxykynureninuria
Hypotension, Renal tubular acidosis, Breathing dysregulation, Abnormal circulating tryptophan con... ORPHA:79155
Variegate Porphyria
Tachycardia OMIM:176200
Babesiosis
Leukopenia, Hepatic failure, Renal insufficiency, Hemolytic anemia, Jaundice, Congestive heart fa... ORPHA:108
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Adams-Oliver Syndrome 6
Hepatic fibrosis, Hypoplastic toenails, Renal hypoplasia, Portal hypertension, Splenomegaly, Tric... OMIM:616589
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Gaucher Disease, Type Iii