Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased neutrophil cell number Hif1anem1(IMPC)Mbp HOM Early adult 1.44×10-06
preweaning lethality, incomplete penetrance Hif1anem1(IMPC)Mbp HOM   Early adult 0.00
decreased prepulse inhibition Hif1anem1(IMPC)Mbp HOM Early adult 5.55×10-06
abnormal liver morphology Hif1anem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Hif1anem1(IMPC)Mbp HOM Early adult 0.00
small liver Hif1anem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Hif1anem1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Hif1anem1(IMPC)Mbp HOM Early adult 0.00
abnormal bone structure Hif1anem1(IMPC)Mbp HOM Early adult 2.67×10-06
abnormal coat/hair pigmentation Hif1anem1(IMPC)Mbp HOM Early adult 1.06×10-11
increased startle reflex Hif1anem1(IMPC)Mbp HOM Early adult 1.72×10-10
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
abnormal kidney morphology Hif1anem1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Hif1anem1(IMPC)Mbp HOM Early adult 2.11×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Dorso Ventral

70 Images

X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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, Ketotic hypoglycemia, Reactive hypoglycemia, Agitation, Hyperinsulinemi... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Agitation, Diffuse pancreatic isl... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu... OMIM:619902
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepatosplenomegaly, Hyperechogenic ki... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Hepatic steatosis, Decreased HDL cholesterol conc... OMIM:615703
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Obesity, Diabetes mellitus, Hypercholesterolemia, Myocardial infarction OMIM:608320
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly, Dementia ORPHA:2274
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in females, Abnormal circ... ORPHA:90794
N-Acetylglutamate Synthase Deficiency
Anorexia, Hyperglutamatemia, Respiratory distress, Hyperalaninemia, Hyperammonemia, Failure to th... OMIM:237310
Acute Liver Failure
Agitation, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he... ORPHA:90062
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Generalized lipodystrophy, Hypocalcemia... OMIM:612526
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weigh... ORPHA:276608
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Hyperkalemia, Abnormal T-wave, Lactic acidosis, Prolonged QT interval, ... ORPHA:466650
Griscelli Syndrome, Type 2
Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ... OMIM:607624
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Citrullinemia Type I
Elevated plasma citrulline, Torticollis, Hyperammonemia, Failure to thrive, Ataxia, Respiratory a... ORPHA:247525
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Elevated circulating hepatic ... ORPHA:263455
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute rhabdomyolysis, Metabolic acidosis, Abnormality of masseter muscle, Necrotizi... ORPHA:423
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Hypoketotic hypog... ORPHA:26793
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Hyperc... ORPHA:528
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Elevated circulating hepatic transaminase concentration, Metabolic acid... OMIM:615160
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv... ORPHA:70591
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... OMIM:263200
Griscelli Syndrome, Type 1
Recurrent tonsillitis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmenta... OMIM:214450
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Muscular dystrophy, Hyperinsulinemia, Elevated circulating hepatic transami... OMIM:613327
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Hyperten... OMIM:615962
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Maternal d... ORPHA:45452
Trimethylaminuria
Trimethylaminuria, Anemia, Depression, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lact... OMIM:306000
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Metabolic acidosis, Lactic acidosis, Hyperalaninemia, Hypoglycemia, Increased circulati... OMIM:615751
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Difficulty walking, Respiratory distress, Distal amyotrophy, Rimm... OMIM:164310
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Hypertension, Impaired glucose tolerance, Obesity, P... OMIM:219090
Gitelman Syndrome
Delayed puberty, Polydipsia, Neoplasm of the pancreas, Prolonged QT interval, Prominent U wave, P... ORPHA:358
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
East Syndrome
Polydipsia, Difficulty walking, Inability to walk, Hypokalemia, Increased circulating renin level... ORPHA:199343
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol ... OMIM:222100
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... ORPHA:79237
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Enlarged kidney, Hepatomegaly, Cholestasis, Hypertrophic cardiomyopathy, Asplenia, Pu... OMIM:615415
Familial Hyperaldosteronism Type Iii
Polydipsia, Prolonged QT interval, Hypokalemia, Abnormal circulating renin, Hypertension, Glucoco... ORPHA:251274
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Sitosterolemia 2
Tendon xanthomatosis, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept... OMIM:617885
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hypokalemia, Abnormal circulating renin, Hypertension, Athetosis, Pulmonary arterial ... ORPHA:369929
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Hypot... ORPHA:85445
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Low posterior hairline, Bone marrow hypocellularity, Leukopenia, Splenomegaly, N... OMIM:617303
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Erlenmeyer flask deformity of the femurs, Splenomegaly, Hypocholesterolemia, Hypers... OMIM:610539
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hypercholesterolemia, Elevated circulating hepatic transaminase concent... OMIM:616829
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hepatomegaly, Metabolic acidosis, Hyperuricemia, Hypertension, Hypoglycemia,... ORPHA:134
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Hepatic steatosis, H... OMIM:151660
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Insulinoma
Hyperinsulinemia, Neuroendocrine neoplasm, Palpitations, Neoplasm of the adrenal gland, Increased... ORPHA:97279
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Metabolic acidosis, Limb hypertonia, Lactic ac... OMIM:606054
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Truncal obesity, Short foot, Precocio... OMIM:616222
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Falls, Increased serum pyruvate, Hypertrophic cardiomyopathy, Increased circu... OMIM:618222
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Pulmonary arterial hypertension, Increased circulating lactate concentration, Incr... OMIM:613845
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev... OMIM:214700
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Decreased body weight, Polyphagia, Increased... OMIM:620085
Gitelman Syndrome
Delayed puberty, Polydipsia, Hypokalemic alkalosis, Prolonged QT interval, Hypokalemia, Hypotensi... OMIM:263800
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Scorpion Envenomation
Prominent U wave, Mixed respiratory and metabolic acidosis, Hypertension, Premature ventricular c... ORPHA:466677
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sudden episodic apnea, Fas... ORPHA:159
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Hyper... ORPHA:363400
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Short foot, Precocious puberty, Obesity, Hypercholesterolem... ORPHA:254531
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Elevated circulat... ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Metabolic acidosis, Bradycardia, Hyperalaninemia, Elevate... OMIM:619048
Absence Of The Pulmonary Artery
Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Reduced left ventric... ORPHA:980
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Hypothyroidism, Failure to thrive, Motor stereotypy, Hy... OMIM:610883
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal lower limb muscle weakness, Steppage gait, Distal amyotrophy, Ataxia, Hypoalbuminemia, Hyp... ORPHA:94124
Huntington Disease
Bradykinesia, Agitation, Decreased body mass index, Difficulty walking, Gait imbalance, Oral-phar... ORPHA:399
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Ataxia, Respiratory alkalosis, ... OMIM:237300
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Hepatomegaly, Maternal diabetes, Abnormality of b... ORPHA:860
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Met... ORPHA:348
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Periportal fibrosis, Decreased circulat... OMIM:201475
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... ORPHA:2457
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating hepatic transaminase concentration, Premature thelarche, Gait ataxia, Hypera... OMIM:616878
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure... OMIM:278000
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensit... ORPHA:231580
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transamin... ORPHA:369
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Respiratory distress, Hypotension, Hypoxem... ORPHA:36238
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Central Diabetes Insipidus
Polydipsia, Anorexia, Diabetes insipidus, Hyponatremia, Failure to thrive, Weight loss, Lethargy ORPHA:178029
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis, Polyphagia OMIM:620195
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Hypotension, Obesity, Attention deficit hyperactivity disorder, Glu... ORPHA:369873
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Elevated circulating carcinoembryonic antigen concent... ORPHA:264675
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Cystinosis
Delayed puberty, Polydipsia, Hypokalemia, Portal hypertension, Nephrogenic diabetes insipidus, Hy... ORPHA:213
Familial Hyperaldosteronism Type Ii
Hypokalemia, Abnormal circulating renin, Hypertension, Secretory adrenocortical adenoma, Adrenal ... ORPHA:404
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneou... OMIM:604367
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration,... OMIM:255100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Distal amyotrophy, Ataxia, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-... ORPHA:552
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Short toe, Brachydactyly, ... ORPHA:633
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Kaposiform Lymphangiomatosis
Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee... ORPHA:464329
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bra... OMIM:212138
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Bradycardia, Abnormal circulating thyroglobulin conc... ORPHA:90674
Smith-Magenis Syndrome
Hypertriglyceridemia, Hyperactivity, Head-banging, Increased body weight, Self hugging, Short pal... OMIM:182290
Sandhoff Disease
Congestive heart failure, Hepatomegaly, Progressive psychomotor deterioration, Splenomegaly, Moto... ORPHA:796
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu... OMIM:232220
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Metabo... ORPHA:20
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Rickets of the lower limbs, Hepatocellular carcinoma, Ac... ORPHA:882
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Lactic acidosis, Hy... OMIM:606407
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Osteoporosis, Splenomegaly, Abnor... ORPHA:100024
Pyruvate Carboxylase Deficiency
Hyperammonemia, Ataxia, Anorexia, Tip-toe gait, Elevated plasma citrulline, Metabolic acidosis, I... ORPHA:3008
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypokalemia, Decreased circulating renin level, Neoplasm of the adrenal gland, H... ORPHA:231625
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Cog4-Cdg
Cirrhosis, Elevated circulating hepatic transaminase concentration, Limb hypertonia, Hepatospleno... ORPHA:263501
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly, Dystonia ORPHA:139406
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Polydipsia, Jaundice, Elev... ORPHA:525731
Apparent Mineralocorticoid Excess
Polydipsia, Hypokalemia, Decreased circulating renin level, Hypertension, Left ventricular hypert... ORPHA:320
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive OMIM:615863
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL choles... OMIM:616834
Citrullinemia, Classic
Elevated plasma citrulline, Cirrhosis, Hepatomegaly, Hyperammonemia, Episodic ammonia intoxicatio... OMIM:215700
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hepatomegaly, Elevated circulating phytanic acid concentration, Failure to thrive, A... OMIM:266510
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Spastic gait, Hepatomegaly, Elevated circulating hepatic transaminase c... ORPHA:415
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating hepatic tran... ORPHA:79301
Griscelli Syndrome Type 2
Premature graying of hair, Jaundice, Hepatomegaly, Hemophagocytosis, Hypopigmentation of hair, Pa... ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 54
Elevated lactate:pyruvate ratio, Hypergonadotropic hypogonadism, Increased circulating lactate co... OMIM:619737
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Proximal upper limb amyotrophy, Muscular dystrophy, Elevated circ... OMIM:613205
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Reduced bone mineral density, Cholestasis, Cognitive impairment, Splenome... ORPHA:172
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypertension, Hypothyroidism, Obesity, Abnorm... ORPHA:77296
Histiocytoid Cardiomyopathy
Congestive heart failure, Hepatomegaly, Wolff-Parkinson-White syndrome, Atrial flutter, Lactic ac... ORPHA:137675
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Temple Syndrome
Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Polyphagia... ORPHA:254516
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Hypertension, Failure to thrive, Decreased circul... OMIM:218030
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Weakness of facial musculature, Talipes equinovarus, Hypoplasia of the... ORPHA:2020
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Acute Lung Injury
Elevated circulating C-reactive protein concentration, Respiratory distress, Acute pancreatitis, ... ORPHA:178320
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholest... OMIM:603813
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Tyrosinemia, Type I
Enlarged kidney, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentra... OMIM:276700
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Syncope, Hypertension, Cerebra... ORPHA:90065
Bardet-Biedl Syndrome 9
Polydipsia, Polydactyly, Postaxial hand polydactyly, Polyphagia, Postaxial polydactyly, Obesity, ... OMIM:615986
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Truncal obesity, Short foot, Precocious puberty, Obesity, C... ORPHA:96184
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Hypoplastic fingernail, Abnormal liver lobulat... OMIM:608022
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lactic acidosis, Hyperalaninemia, Gait disturbance, Increased circulating lactate concentration, ... OMIM:615838
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Hypoxemia, Acidosis, Arrhythmia, Syncope, Palpitations, Cyanosis ORPHA:464453
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Pulmonary venous hypertension, Elevated pulmonary artery ... ORPHA:1329
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Abnormal blood gas level, Metabolic acidosis, Vasculitis, Hypotension, Hypoxemia, D... ORPHA:70578
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Hypertension, Athetosis, Pulmonary arterial hyper... OMIM:615474
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Cholestasis, Ascites, Biliary hyperpl... ORPHA:731
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Pulmonary insufficiency,... OMIM:602088
Whipple Disease
Polydipsia, Anorexia, Gastrointestinal hemorrhage, Hepatomegaly, Myocarditis, Myositis, Cachexia,... ORPHA:3452
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Splenomegaly, Lipodystrophy, Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Combined Oxidative Phosphorylation Deficiency 24
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Increased circulati... OMIM:616239
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Abnormal cardiovascular system physi... ORPHA:168569
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:98855
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Left ventricular hype... OMIM:601493
Aicardi-Goutieres Syndrome 6
Irritability, Hepatomegaly, Tremor, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary ci... OMIM:620454
Argininosuccinic Aciduria
Hepatomegaly, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia intox... OMIM:207900
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Pancreatitis, Metabolic acidosis, Hyperamylasemia, Hyperalaninemia, Elevated circulatin... OMIM:619386
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Antenatal ... OMIM:608836
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Episodic ataxia, Elevated circulating alanine aminotransferase concentration, Hyperammonemia, Epi... OMIM:311250
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Reduced bone mineral density, Abn... ORPHA:1414
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase conc... OMIM:608594
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin... OMIM:613313
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Hereditary Central Diabetes Insipidus
Polydipsia, Lethargy, Weight loss, Diabetes insipidus ORPHA:30925
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port... OMIM:605814
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Lactic acidosis, Respiratory distress, Hypertrophic cardiomyopathy, Ataxia, Tachypn... OMIM:614299
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl... OMIM:616217
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Hypertension, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria... OMIM:105200
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr... ORPHA:542323
Maternal Uniparental Disomy Of Chromosome 4
Spastic gait, Diabetes insipidus, Calf muscle pseudohypertrophy, Decreased body weight, Elevated ... ORPHA:96180
High Altitude Pulmonary Edema
Anorexia, Hypoxemia, Tachycardia, Tachypnea, Cyanosis ORPHA:330012
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Renal Dysplasia
Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo... ORPHA:93108
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Hyperinsulinemia, Increased facial adipose tissue, Loss of subcutaneous... OMIM:248370
Immunodeficiency 53
Recurrent urinary tract infections, Neutrophilia, Impaired lymphocyte transformation with phytohe... OMIM:617585
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Lactic acidosis, Hy... OMIM:617872
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:246900
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... ORPHA:75564
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Splenomegaly, Proxima... ORPHA:280365
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia, Myopathy ORPHA:366
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Muscular dystrophy, Reduced left ... ORPHA:1344
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Hyperechogenic pancreas, Proximal placement of thumb, Skeletal muscle fibrosis, ... ORPHA:456312
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Renovascular hypertension, Type II diabetes mellitus, Dilated cardiomyopath... ORPHA:401923
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lactic acidosis, Decreased... ORPHA:2394
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Nail-biting, Tachycardia, Hyperactivity, 2... ORPHA:485405
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:98853
Schaaf-Yang Syndrome
Rocker bottom foot, Inability to walk, Tapered finger, Polyphagia, Camptodactyly, Impulsivity, Sh... OMIM:615547
Infantile Sialic Acid Storage Disease
Osteopenia, Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Hypopigmentation of t... OMIM:269920
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elev... OMIM:269700
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Inguinal hernia, Hyperhomocystinemia, Pulmonary arterial hypertension, Fa... OMIM:614857
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Infant Acute Respiratory Distress Syndrome
Bradycardia, Cardiac arrest, Hypotension, Nasal flaring, Hypoxemia, Tachycardia, Tachypnea, Cyanosis ORPHA:70587
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Decreased serum insulin-like growth factor 1, Intrahepatic cholestasis, Elevated... OMIM:614921
Smith-Magenis Syndrome
Hypertriglyceridemia, Delayed puberty, Clinodactyly of the 5th finger, Gait disturbance, Precocio... ORPHA:819
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Truncal ataxia, Distal amyotrophy, Elevated circulating creatine kinase concentratio... OMIM:208920
Glut1 Deficiency Syndrome 2
Irritability, Tremor, Reticulocytosis, Dystonia, Splenomegaly, Choreoathetosis, Hemolytic anemia OMIM:612126
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:98863
Babesiosis
Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Depression, Confusion, T... ORPHA:108
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Graves Disease
Increased circulating free T3, Congestive heart failure, Decreased thyroid-stimulating hormone le... OMIM:275000
Pyloric Stenosis, Infantile Hypertrophic, 1
Hypochloremic metabolic alkalosis, Failure to thrive OMIM:179010
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Limb muscle weak... ORPHA:90064
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemic alkalosis, Hypokalemia, Increased serum prostagland... OMIM:241150
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, 2-3 toe syndactyly, Elev... OMIM:618156
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu... OMIM:232200
Holocarboxylase Synthetase Deficiency
Anorexia, Respiratory distress, Hyperammonemia, Ataxia, Weight loss, Tachypnea, Lethargy ORPHA:79242
Peripartum Cardiomyopathy
Sinus tachycardia, Hypertension, Heart murmur, Left ventricular hypertrophy, Myocarditis, Elevate... ORPHA:563
Snakebite Envenomation
Tachycardia, Neuromuscular dysphagia, Cerebral ischemia, Hypotension, Muscle fiber necrosis, Hypo... ORPHA:449285
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis, Tr... ORPHA:156
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Familial Hyperaldosteronism Type I
Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulat... ORPHA:403
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Metabolic acidosis, Apnea, Tachycardia, Hypoglycemia, Lethargy OMIM:229700
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, H... ORPHA:786
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, EMG: myopathic abnormalitie... ORPHA:71
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomeg... OMIM:607616
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Hyperparathyroidism, Neonatal Severe
Polydipsia, Calcinosis, Hepatomegaly, Elevated circulating parathyroid hormone level, Primary hyp... OMIM:239200
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Fatigable weakness of skeletal muscles, Right bundle branc... ORPHA:206559
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ... ORPHA:231632
Rabson-Mendenhall Syndrome
Polydipsia, Polydactyly, Increased circulating androgen concentration, Increased serum testostero... ORPHA:769
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Bone marrow hypocellularity, Leukopenia, Pulmonary arterial hypertension, Abnorm... ORPHA:505248
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating hepatic transaminase c... ORPHA:14
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Obesity, Hypogonadism OMIM:614962
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Naxos Disease
Nail dystrophy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Prolonged ... OMIM:601214
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Atypical Rett Syndrome
Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Sudden episodic apnea, Ster... ORPHA:3095
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fibrosis, Chronic neutropenia, Hypert... ORPHA:79259
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypertension, Impaired glucose tolerance, Gait ataxia, Dysphagia, Recurrent... OMIM:606721
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Cyanosis, Prolonged QT interval, Metabolic acidosis, Lact... ORPHA:31826
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hyperli... OMIM:232400
Bardet-Biedl Syndrome 22
Polydactyly, Large for gestational age, Polyphagia, Obesity, Hypogonadism, Postaxial foot polydac... OMIM:617119
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Craniosynostosis, Hepatic fibrosi... OMIM:200995
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly, Ab... ORPHA:2204
Myotonic Dystrophy 2
Right bundle branch block, Insulin insensitivity, Elevated circulating creatine kinase concentrat... OMIM:602668
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Radial deviation ... OMIM:176270
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Scarring alopecia of scalp, Cholestasis, Sparse scalp hair, Portal hypert... ORPHA:59303
Sepsis In Premature Infants
Decreased liver function, Jaundice, Hepatomegaly, Metabolic acidosis, Elevated circulating C-reac... ORPHA:90051
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hypertension, Hyp... OMIM:615812
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait... OMIM:618541
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Hypoketotic hypog... ORPHA:71212
Solitary Fibrous Tumor
Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia... ORPHA:2126
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Hypokalemia, Dysdiadochokinesis, Hypertension, Increased circulating renin level, Ele... OMIM:612780
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Loss of ambulation, Dysphagia, Motor stereotypy, Tachycardia, Episodic tachypnea ORPHA:79264
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Hypertrophic cardiomyopathy, Increased circulating lactate con... OMIM:618810
Ataxia-Telangiectasia
Premature graying of hair, Elevated circulating hepatic transaminase concentration, Hypopigmentat... ORPHA:100
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Metabolic acidosis, Decreased circulating carnitine concentration, Bradycardia, Car... OMIM:618235
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Progressive psychomotor deterioration, Hypertension, Episodic hemolytic anemia, ... ORPHA:251004
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Gaucher Disease Type 2
Hepatomegaly, Cardiac arrest, Splenomegaly, Dystonia ORPHA:77260
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Alopecia ORPHA:100025
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Hyperpigmentation of the skin, Cardiomyopathy,... OMIM:602390
Bronchopulmonary Dysplasia
Small for gestational age, Respiratory distress, Right ventricular failure, Right ventricular hyp... ORPHA:70589
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Hepatomegaly, Left bundle branch block, Reduced left ventricular ejecti... OMIM:115197
Cardiogenic Shock
Hypoxemia, Elevated circulating creatinine concentration, Metabolic acidosis, Low-output congesti... ORPHA:97292
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Splenomegaly, ... OMIM:252920
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Hypertension, Insulin resistance, Diab... ORPHA:79084
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Jaundice, Hepatomegaly, Lymphadenopathy, S... ORPHA:381
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Woolly h... OMIM:610193
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,... OMIM:613239
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism, Hypercapnia, Abnormality of the diaphragm ORPHA:505395
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Polydipsia, Elevated circulating hepatic transaminase concentration, Hyperlipide... ORPHA:293987
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tachypnea, Cyanosis, Respiratory distress OMIM:263000
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pancytopenia, Elevated... ORPHA:398124
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Atrial Septal Defect, Ostium Primum Type
Third heart sound, Left ventricular hypertrophy, Right-to-left shunt, Pulmonary arterial hyperten... ORPHA:99106
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Avian Influenza
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Elevated circu... ORPHA:454836
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Dystonia, Thrombocytopenia, Splenomegaly, Cho... ORPHA:79312
Prader-Willi Syndrome Due To Imprinting Mutation
Abnormal ulnar metaphysis morphology, Polyphagia, Short foot, Obesity, Hypogonadotropic hypogonad... ORPHA:177910
Congenital Myopathy 13
Bilateral talipes equinovarus, Hypoxemia, Increased intramyocellular lipid droplets, Flexion cont... OMIM:255995
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp... OMIM:261740
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Lactic acidosis, Fasting hypoglycemia, Elevated circulating alanine aminotransferas... OMIM:261680
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Obesity, Inappropriate laughter, Ataxia ORPHA:411515
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip... ORPHA:77293
Beta-Thalassemia
Irritability, Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Hypertrophic ca... ORPHA:848
Cholera
Lactic acidosis, Hypokalemia, Tachycardia, Hypocalcemia, Hypoglycemia, Hypotension, Hypovolemic s... ORPHA:173
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Lactic acidosis, Metabolic acidosis, Aortic regurgitation, Reduced left ventricular ejection frac... OMIM:616501
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Hereditary Coproporphyria
Proximal muscle weakness in upper limbs, Hepatocellular carcinoma, Hyponatremia, Abnormal circula... ORPHA:79273
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Hepatomegaly, Lym... OMIM:214500
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hyperinsulinemia, Hepa... ORPHA:79086
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Patchy alopecia, Splenomegaly, Vitili... OMIM:615387
Joubert Syndrome 10
Decreased body weight, Polyphagia, Frequent temper tantrums, Postaxial hand polydactyly, Obesity,... OMIM:300804
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Hypocalcemia, Pulmonic stenosis, Failure to thrive, Heart murmur... ORPHA:3426
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro... OMIM:611705
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Cryptogenic Organizing Pneumonia
Anorexia, Elevated circulating C-reactive protein concentration, Respiratory distress, Hypoxemia,... ORPHA:1302
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Proximal placement of thumb, Abnormal ad... ORPHA:79324
Tetanus
Bradycardia, Respiratory distress, Hypertension, Elevated circulating creatine kinase concentrati... ORPHA:3299
14Q11.2 Microduplication Syndrome
Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Metabolic acidosis, Hypokalemia, Decreased circulating renin level, Hypertension, Adr... OMIM:613677
Free Sialic Acid Storage Disease
Hepatomegaly, Reduced bone mineral density, Athetosis, Ascites, Nephrotic syndrome, Abnormality o... ORPHA:834
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U... ORPHA:449395
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Hypercapnia, Apnea, Decreased heart rate variability OMIM:209880
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Vasculitis, Leukocytosis, ... ORPHA:37748
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Broad-based gait, Polyphagia, Obesity, Tapered finger ORPHA:171829
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Small nail, Anemia of inadequate production, Reticulocytosis, Poi... OMIM:615631
Lysosomal Acid Lipase Deficiency
Decreased liver function, Xanthelasma, Hypertriglyceridemia, Steatorrhea, Elevated circulating he... ORPHA:275761
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Lactic acidosis, Gait imbalance, Elevated serum anion gap, Elevated ci... OMIM:618120
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level, Hypertension, Metabolic alkalosis, Decreased circ... OMIM:618114
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating hepatic transaminase concentration, Facial diplegia, Gait ataxia, Ataxia, Dy... ORPHA:254892
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level, Hypertension, Metabolic alkalosis, Decreased circ... OMIM:618126
Bacterial Toxic-Shock Syndrome
Fasciitis, Myocarditis, Elevated circulating creatinine concentration, Metabolic acidosis, Respir... ORPHA:36234
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:235200
Panhypophysitis
Polydipsia, Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin co... ORPHA:95513
Secondary Short Bowel Syndrome
Steatorrhea, Primary hypothyroidism, Cholestasis, Polyphagia, Central hypothyroidism, Failure to ... ORPHA:95427
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Beta-Thalassemia Intermedia
Decreased liver function, Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequat... ORPHA:231222
Liddle Syndrome 1
Hypokalemic alkalosis, Hypokalemia, Decreased circulating renin level, Hypertension, Decreased ci... OMIM:177200
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches, Hepatomegaly, Lymphadenopathy, Abnormali... ORPHA:2584
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Palpitations, Rhabdomyolysis, Hyperthyroidism, Weight loss, Tachycardia, Goiter OMIM:188580
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair ORPHA:1355
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Bilateral talipes equinovarus, Obesity, Self-mutilation, Aggressive behavior OMIM:616521
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul... ORPHA:75565
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Elevated circ... ORPHA:368
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Spinal muscular atrophy, Limb muscle weakness, Camptodactyly of finger, Failur... OMIM:604320
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Hirsutism, Enlarged polycystic ovaries ORPHA:90301
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Patellar hypoplasia, Hypoxemia, Failure to thrive, Apnea, Tach... ORPHA:2257
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Cystinosis, Nephropathic
Delayed puberty, Polydipsia, Primary hypothyroidism, Splenomegaly, Hypophosphatemia, Dysphagia, E... OMIM:219800
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Hypoxemia, Failure to thrive, Tachypnea, Cyanosis ORPHA:91359
Mucolipidosis Ii Alpha/Beta
Osteopenia, Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Brittl... OMIM:252500
Niemann-Pick Disease, Type A
Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Athe... OMIM:257200
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Lactic acidosis, Clubbing, Cholestasis, Elevated circulating alanine ami... OMIM:615486
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Elevated cir... ORPHA:64743
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Tendon xanthomatosis, Progressive cerebellar ataxia, Increased... OMIM:277460
Graft Versus Host Disease
Dupuytren contracture, Jaundice, Elevated circulating hepatic transaminase concentration, Acute h... ORPHA:39812
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Tremor, Hypopigmentation of the skin, Genera... ORPHA:33445
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund... ORPHA:439232
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos... ORPHA:98848
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Obesity, Lipodystrophy, Hypoalbuminemia, Inc... ORPHA:86816
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenome... OMIM:612840
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Hypothyroidism... OMIM:601005
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Steinert Myotonic Dystrophy
Elevated circulating hepatic transaminase concentration, Facial diplegia, Prolonged QRS complex, ... ORPHA:273
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:616278
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Elevated circulating creatine kinase concentration, Ataxia, Dysphagia, Elevated c... ORPHA:64753
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Angina pectoris OMIM:614025
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Depression, Thrombocytopenia, Splenomegaly, Progressive neurologic de... OMIM:231000
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Variegate Porphyria
Tachycardia OMIM:176200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Pyruvate Dehydrogenase Deficiency
Osteolytic defects of the middle phalanx of the 4th toe, Gait disturbance, Ataxia, Choreoathetosi... ORPHA:765
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce... ORPHA:35878
Alg9-Cdg
Irritability, Enlarged kidney, Hepatomegaly, Abnormal bone ossification, Torticollis, Periportal ... ORPHA:79328
Sialidosis Type 2
Hepatomegaly, Tremor, Ascites, Osteoporosis, Splenomegaly, Nephropathy ORPHA:87876
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Porphyria Variegata
Scarring, Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase conc... ORPHA:79473
Necrotizing Enterocolitis
Metabolic acidosis, Abnormal glucose homeostasis, Bradycardia, Hypotension, Increased circulating... ORPHA:391673
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Recurrent Respiratory Papillomatosis
Respiratory distress, Choking episodes, Failure to thrive, Dysphagia, Syncope, Tachypnea ORPHA:60032
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Dystonia, Th... OMIM:610333
Renal Glucosuria
Polydipsia, Glycosuria, Polyphagia OMIM:233100
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Gaisböck Syndrome
Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Angina pectoris, Hyperten... ORPHA:90041
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... OMIM:603909
Congenital Disorder Of Glycosylation, Type Iij
Irritability, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, T... OMIM:613489
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ... OMIM:619644
Meconium Aspiration Syndrome