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Gene: Slc2a4 MGI:95758

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 2 (facilitated glucose transporter), member 4
Synonyms:
twgy,  Glut-4,  Glut4

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Slc2a4 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 Slc2a4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly... ORPHA:79084
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hyper... ORPHA:280356
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue, Limb muscle weakness ORPHA:45
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Increased muscle fatiguability, Myopathy OMIM:615511
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertension, Lipodys... OMIM:613877
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Increased muscle fatiguability, Abnormal mus... OMIM:123320
Transient Neonatal Diabetes Mellitus
Macroglossia, Maturity-onset diabetes of the young, Umbilical hernia, Abnormal heart morphology, ... ORPHA:99886
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Congestive heart failure, Type II diabetes mellitus, Hepatic steatosis, Hyper... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Hypoglycemia OMIM:601820
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... ORPHA:293964
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Hepa... OMIM:615980
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Growth delay ORPHA:140941
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hemochromatosis, Type 4
Cardiomyopathy, Glucose intolerance, Hepatic steatosis, Arrhythmia, Cirrhosis, Osteoarthritis, He... OMIM:606069
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis, Myopathy ORPHA:79087
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... OMIM:620211
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Gout, Sudden cardiac death, Hypertension, Myocard... OMIM:610947
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Elevated circulating aspartate a... OMIM:619048
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... ORPHA:79083
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... ORPHA:276556
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Diabetes mellitus, Myocardial infarction OMIM:608320
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Cardiomyopathy, Generalized lipodystroph... ORPHA:79086
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Exercise-induced muscle fatigue, Increased intramyocellular lipid dro... ORPHA:681
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue... OMIM:608709
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Hypoglycemia OMIM:609016
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertension, Decrea... OMIM:615238
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Skeletal muscle hypertrophy, Hypertrophic cardiomyopathy, Congest... ORPHA:2348
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Increased muscle fatiguability, Weakness of facial musculature OMIM:616323
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Myopathy, Hepatic steatosis, Cardiomyopathy ORPHA:26792
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Congestive heart failure, Hypertrophic cardiom... ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture OMIM:618856
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating asparta... OMIM:212140
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Exercise-induced muscle fatigue, Rhabdomyolysis ORPHA:2364
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Glycogen Storage Disease Vi
Hypoglycemia, Postnatal growth retardation, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Exercise-induced muscle fatigue, Limb-girdle muscular dystrophy, Right ventricular dilatation, My... ORPHA:369847
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recurrent hypoglycemia OMIM:620357
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Obesity Due To Sim1 Deficiency
Hypotension, Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachyc... ORPHA:369873
Obesity Due To Prohormone Convertase I Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71526
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ... OMIM:231530
Seckel Syndrome 10
Insulin resistance, Ventricular hypertrophy, Acute pancreatitis, Elevated circulating luteinizing... OMIM:617253
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability, Myopathy OMIM:613077
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concen... OMIM:619386
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Decreased serum testosterone concentration, Hyperglycemia,... ORPHA:465508
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Hypertension, Left ventricular hype... OMIM:540000
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Elevated circulating hepatic transaminase concentration, At... OMIM:212138
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Short s... OMIM:616033
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Hepatic steatosis,... ORPHA:280365
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydroc... OMIM:614662
Pure Mitochondrial Myopathy
Quadriceps muscle weakness, Shoulder girdle muscle weakness, Exercise-induced muscle fatigue, Rha... ORPHA:254854
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Pr... OMIM:617872
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... ORPHA:228305
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is... ORPHA:90065
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Elevated circulating hepatic transaminase concentration, Hepatic steat... OMIM:618400
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Skeletal muscle atrophy, Choles... OMIM:246200
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, D... ORPHA:42
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Hypertension, Left atrial enlargement... OMIM:620734
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy OMIM:615119
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Exercise-induced muscle fatigue, Rhabdomyolysis, Myopathy ORPHA:713
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:613327
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Preeclampsia/Eclampsia 1
Elevated circulating hepatic transaminase concentration, Hypertension OMIM:189800
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hepatic steatosis, Rhabdomyolysis, Ventricular septal defect, Elevated ci... OMIM:614921
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Failure to thrive, Increased muscle fatiguability, Hypertrophic cardio... OMIM:618250
Glycogen Storage Disease Vii
Exercise-induced muscle fatigue, Increased variability in muscle fiber diameter, Increased muscle... OMIM:232800
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbi... OMIM:608594
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, Hyperglycemia, Inguin... OMIM:175700
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Hyperglycemia, Tachycardia, Retrobulbar optic neuritis, Hypergonadotr... OMIM:619737
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Type II diabetes mellitus, Hypertension, Myocardial infa... OMIM:615812
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Xp21 Deletion Syndrome
Myopathy, Calf muscle hypertrophy, Increased muscle fatiguability, Decreased muscle mass ORPHA:261476
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Fasting hyperins... ORPHA:71212
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hypertrophic cardiomyo... OMIM:269700
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ... OMIM:618234
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... OMIM:608612
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Proximal amyotrophy OMIM:604484
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Abnormal heart morphology, Exercise-induce... ORPHA:26791
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase... OMIM:203800
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran... ORPHA:2088
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Hypotension, Uveitis, Splenomegaly, Infectious e... ORPHA:3452
Trimethylaminuria
Tachycardia, Recurrent pneumonia, Hypertension, Splenomegaly OMIM:602079
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Necrotizing Enterocolitis
Hypotension, Abnormal heart morphology, Hyperglycemia, Shock, Abnormal glucose homeostasis, Perit... ORPHA:391673
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Femoral hernia ORPHA:2849
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Hypertension, Abnormal mitral valve morphology ORPHA:1192
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Hypoglycemia, Arrhythmia ORPHA:35
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... OMIM:235200
Mpi-Cdg
Hepatic fibrosis, Gastrointestinal hemorrhage, Decreased liver function, Portal hypertension, Hyp... ORPHA:79319
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... OMIM:261750
Stormorken Syndrome
Increased muscle fatiguability, Myopathy OMIM:185070
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Placental Insufficiency
Insulin resistance, Abnormal heart morphology ORPHA:439167
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart... ORPHA:99901
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:248370
Patent Ductus Venosus
Persistent patent ductus venosus, Congenital portosystemic venous shunt, Hepatic steatosis, Decre... OMIM:601466
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Short Stature, Dauber-Argente Type
Short stature, Postnatal growth retardation, Fasting hyperinsulinemia OMIM:619489
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransf... OMIM:618805
Melorheostosis With Osteopoikilosis
Multiple lipomas, Hypertension ORPHA:1879
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, General... ORPHA:98908
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Abnormal tricuspid valve morphology, Lipodystrophy, Increased... ORPHA:199276
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Torticollis OMIM:620639
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Elevated circulating hepatic transaminase conce... ORPHA:2089
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Overlap Myositis
Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:206572
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Corticosteroid-Binding Globulin Deficiency
Increased muscle fatiguability OMIM:611489
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonadism ORPHA:3085
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen... OMIM:201910
Shwachman-Diamond Syndrome 1
Hepatomegaly, Myocardial necrosis, Elevated circulating hepatic transaminase concentration, Exocr... OMIM:260400
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice, Tachycardia, Hypertension OMIM:121300
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce... ORPHA:3287
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:102200
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... ORPHA:1349
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Hypogonadism, Partial atrioventricular canal defect, Hepatic steatosis, V... OMIM:615996
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Polycystic Kidney Disease 7
Hypertension OMIM:620056
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase... OMIM:610198
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hepatomegaly, Hypergonadotropic hypogonadism ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... OMIM:614582
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Lower limb muscle weakness, Cholestasis, Tricuspid regurgitation, Hypoketotic hyp... ORPHA:746
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased... ORPHA:189427
Preeclampsia
Elevated systolic blood pressure, Abnormality of the hepatic vasculature, Type I diabetes mellitu... ORPHA:275555
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Monosomy 13Q34
Insulin resistance, Hematochezia, Epistaxis, Hepatic steatosis, Common atrium, Pulmonic stenosis ORPHA:96168
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Pigmented Nodular Adrenocortical Disease, Primary, 4
Acne, Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adre... OMIM:615830
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hyperglycemia, Absent gallbladder, Congenital diaphragmatic her... OMIM:600001
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Abnormal heart morphology, Hypertrophic cardi... ORPHA:70472
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Amyloidosis, Hereditary Systemic 2
Cholestasis, Skin rash, Splenomegaly, Hepatomegaly, Hypertension OMIM:105200
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He... OMIM:610717
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Beta-Ketothiolase Deficiency
Hypotension, Hypoglycemia, Hyperglycemia, Hepatomegaly, Hypertension ORPHA:134
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Myocardial necrosis, Infectious encephalitis, Pustule, Abnormality of the adrenal glan... ORPHA:68
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... ORPHA:369840
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia OMIM:618838
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hypogly... OMIM:201450
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Abnor... ORPHA:494424
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Abnormal heart m... ORPHA:99885
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcut... OMIM:609069
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:615710
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Intrauterine growth... ORPHA:73272
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver function OMIM:616829
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Skele... ORPHA:264580
Stiff Skin Syndrome
Hypertension, Type II diabetes mellitus, Lipoatrophy ORPHA:2833
Methanol Poisoning
Type I diabetes mellitus, Inflammatory arteriopathy, Type II diabetes mellitus, Permanent atrial ... ORPHA:31825
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Recurrent pneumonia, Elbow flexion contracture... OMIM:214150
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Congestive heart failure, El... OMIM:620609
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Alopecia Universalis
Atopic dermatitis, Type I diabetes mellitus, Abnormality of the thyroid gland, Psoriasiform derma... ORPHA:701
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hyperglycemia, Elevated circulating hepatic transaminase concentration, Hy... OMIM:615453
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Recur... OMIM:124000
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Hyperinsulinemia, Syncope, O... ORPHA:230
Timothy Syndrome
Pneumonia, Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventr... OMIM:601005
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue, Ventricular septal hypertrophy, Pulmonar... OMIM:619322
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Morgagni-Stewart-Morel Syndrome
Acne, Abnormality of the thyroid gland, Hypothyroidism, Osteoarthritis, Abnormality of the endocr... ORPHA:77296
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Failur... OMIM:614096
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Polycystic Kidney Disease 5
Hepatosplenomegaly, Hypertension, Enlarged kidney OMIM:617610
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven... OMIM:115197
Familial Cervical Artery Dissection
Abnormality of connective tissue, Transient ischemic attack, Cerebral ischemia, Subarachnoid hemo... ORPHA:36382
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H... ORPHA:466677
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Skeletal muscle atrophy, Congestive heart failure, Hypogon... ORPHA:902
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Lower limb muscle weakness, Exercise-induced muscle fatigue, Obesity,... ORPHA:79102
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated circulating aspar... OMIM:605911
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Cholestasis, Tricuspid r... ORPHA:615
Paroxysmal Hemicrania
Hypertension, Rhinitis, Diabetes mellitus ORPHA:157835
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Hepatic steatosis, Cardiomegaly, Hepat... ORPHA:228308
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... ORPHA:52430
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Hypoglycemia, Recurrent hypogly... OMIM:256810
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased muscle mass, Gou... OMIM:232200
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion OMIM:614702
Dysbetalipoproteinemia
Acute pancreatitis, Tendon xanthomatosis, Gout, Hepatic steatosis, Angina pectoris, Hypothyroidis... ORPHA:412
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Central hypothyroidism, ... ORPHA:508
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephalitis, Arrhy... ORPHA:3386
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Hyperglyc... ORPHA:79474
Stiff-Person Syndrome
Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Hypertension, Tachycardia, Diab... OMIM:184850
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, El... OMIM:608836
Dilated Cardiomyopathy With Ataxia
Generalized amyotrophy, Elevated circulating hepatic transaminase concentration, Dilated cardiomy... ORPHA:66634
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Hypertension, Cerebral hemorrhage,... ORPHA:136
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Chondrocalcinosis, Dilated cardiomyopathy, Abnormal atri... ORPHA:732
Renal Failure, Progressive, With Hypertension
Nephritis, Hypertension OMIM:161900
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Hypot... ORPHA:445038
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Senior-Loken Syndrome
Hypertension, Congenital hepatic fibrosis ORPHA:3156
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Synovitis, Glomerulonephritis, Arthritis, Hypertension, Serositis ORPHA:567544
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lo... OMIM:619487
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension OMIM:617027
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Conge... OMIM:619111
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Hepatic failure, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hypertension OMIM:613944
Scedosporiosis
Pneumonia, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Diabetes mellitus, E... ORPHA:449280
Legionnaires Disease
Cellulitis, Hypotension, Hepatitis, Splenomegaly, Infectious encephalitis, Arrhythmia, Pancreatit... ORPHA:549
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Hypertension, Left ventricular hypertrophy OMIM:616733
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Sneddon Syndrome
Atrophic scars, Ischemic stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypert... OMIM:182410
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Atrioventricular block, Mitral valve prolapse, Ventricular septal defec... ORPHA:371428
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure ORPHA:2724
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepatic steatosis ORPHA:210548
Cole Disease
Hyperglycemia OMIM:615522
Rheumatic Fever
Epistaxis, Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal mitral val... ORPHA:3099
Polyarteritis Nodosa
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis ORPHA:767
Ddost-Cdg
Lipodystrophy, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Primar... ORPHA:300536
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis... ORPHA:2959
Gitelman Syndrome
Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Tubulointerstitial nephritis, Ven... ORPHA:358
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Hypertension, Hepatic cysts, Mitral valve prolapse OMIM:173900
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Familial Chylomicronemia Syndrome
Acute pancreatitis, Pulmonary embolism, Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreat... ORPHA:444490
Short Syndrome
Insulin resistance, Severe short stature, Abnormal dental enamel morphology, Inguinal hernia, Lip... ORPHA:3163
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas... ORPHA:2137
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Hypopituitarism, ... OMIM:619013
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Combined Oxidative Phosphorylation Deficiency 21
Limb hypertonia, Hepatic steatosis OMIM:615918
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Biliary tract abnormality, Hypertension, Left... OMIM:209900
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Ischemic stroke, D... ORPHA:280679
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Decreased response to gro... OMIM:300845
Lessel-Kubisch Syndrome
Hypogonadism, Hypertension OMIM:618681
Congenital Macroglossia
Abnormal hepatic glycogen storage, Macroglossia, Hypothyroidism ORPHA:2430
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:618329
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste... OMIM:614300
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Splenomegaly, Arthritis, Hepatomegaly, Juvenile rheumatoid arthritis, Pericarditis, An... ORPHA:85414
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Graves disease, Keratitis, Sinus tachyca... ORPHA:525731
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Short stature ORPHA:90154
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Elevated circulating aspartate ... OMIM:227810
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... OMIM:613870
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Prolong... ORPHA:251274
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Fabry Disease
Congestive heart failure, Transient ischemic attack, Hypertension, Ventricular septal hypertrophy... OMIM:301500
Scrub Typhus
Hypotension, Skin rash, Splenomegaly, Infectious encephalitis, Myocarditis, Anterior uveitis ORPHA:83317
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:618620
Potocki-Shaffer Syndrome
Hypertension, Hypothyroidism, Delayed puberty ORPHA:52022
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Congestive heart failure, Splenomegaly, Pericarditis ORPHA:163596
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Type I diabetes mellitus, Dilated cardiomyopathy, Elevated circulating hepatic transa... OMIM:615688
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle ... ORPHA:436271
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase... OMIM:300280
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Hypoglycemia, Polysplenia, Exocrine pancreatic insuf... OMIM:619418
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Hypoglycemia, Decreased liver function, Elevated circ... OMIM:617093
Infantile Liver Failure Syndrome 1
Hepatomegaly, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Acute h... OMIM:615438
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Decreased liver function, Partial atrioventricular canal defect, Hypoglycemia OMIM:620423
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Decreased ... OMIM:615474
Shigellosis
Pneumonia, Hypovolemic shock, Hepatic failure, Hypoglycemia, Ulcerative colitis, Cholestasis, Rha... ORPHA:810
Glycogen Storage Disease Ib
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:232220
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice OMIM:231680
Alagille Syndrome 2
Cholestatic liver disease, Tetralogy of Fallot, Cholestasis, Atrial septal defect, Hypertension, ... OMIM:610205
Nephronophthisis 18
Cholestasis, Portal fibrosis, Hypertension, Tubulointerstitial nephritis OMIM:615862
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Wrist flexion contracture, Arthritis, Congenital finger flexion contra... OMIM:208250
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis ORPHA:188
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemia, Mitral atresia, Inguinal hernia, Mitral... OMIM:220111
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Lower limb muscle weakness, Glucose intolerance, De... OMIM:606721
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Diabetes insipidus, Hypogonadism, Limb muscle weakness, Facial palsy, Hy... ORPHA:97229
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Dilated cardiomyopathy, Inguinal hernia, Hypothyroidism, Diabetes mellitus OMIM:616541
Congenital Enterovirus Infection
Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Skin rash, Infectious encep... ORPHA:292
Bacterial Toxic-Shock Syndrome
Cellulitis, Pneumonia, Hypotension, Septic arthritis, Hepatitis, Fasciitis, Shock, Osteomyelitis,... ORPHA:36234
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Q Fever
Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Abnorm... ORPHA:781
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hypertension OMIM:161950
19P13.12 Microdeletion Syndrome
Precocious puberty, Aortic regurgitation, Hepatic steatosis, Mitral regurgitation, Ventricular se... ORPHA:254346
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adr... ORPHA:369929
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Mitral valve prolapse, Hypertension, Hypothyroidism, Hyperthyroidism, Dia... ORPHA:449291
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Gas... ORPHA:247691
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice, Hypertension OMIM:613095
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... ORPHA:98907
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction, Membranoproliferative glomerulonephritis ORPHA:54370
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Rec... ORPHA:20
Felty Syndrome
Cellulitis, Recurrent pneumonia, Episcleritis, Splenomegaly, Synovitis, Arthritis, Sinusitis, Hep... ORPHA:47612
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Postnatal g... ORPHA:813
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Inflammation of the large intestine, Periodontitis, Hypoglycemia, Ulcerative colitis, ... ORPHA:79259
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Elevated circulating aspartate aminotransferas... OMIM:614034
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Congestive heart failure, Hepatic steatosis, Flexion contracture, Neonatal h... OMIM:616271
Systemic Lupus Erythematosus 17
Hypertensive crisis, Myelitis, Malar rash, Mitral regurgitation, Optic neuritis, Raynaud phenomenon OMIM:301080
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Aromatase Deficiency
Insulin resistance, Type II diabetes mellitus, Hepatic steatosis, Enlarged polycystic ovaries, Hy... ORPHA:91
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Rat-Bite Fever
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Oligoarthritis... ORPHA:31205
Glycogen Storage Disease Ic
Inflammation of the large intestine, Spider hemangioma, Hypoglycemia, Chronic pancreatitis, Gout,... OMIM:232240
Pseudoxanthoma Elasticum
Acne, Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Skin rash, Mitral valve prolapse, ... ORPHA:758
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Cardiomyopathy, Hepatic steatosis, Myopathy, Hepatomegaly OMIM:614922
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Inguinal hernia, Mitral valve prolapse, Pancreatitis, Myocardial infarction OMIM:236200
Yao Syndrome
Ventricular hypertrophy, Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunct... OMIM:617321
Congenital Syphilis
Pneumonia, Keratitis, Hypoglycemia, Hepatosplenomegaly, Prolonged neonatal jaundice, Synovitis, P... ORPHA:499009
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Skeletal muscle atrophy, Increased circulating ACTH level, Glucose intolerance... OMIM:219090
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Hypertension OMIM:616069
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... OMIM:616433
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom... OMIM:103900
Dend Syndrome
Hyperglycemia ORPHA:79134
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Skeletal muscle fibrosis,... OMIM:616263
Zygomycosis
Cellulitis, Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage, Perit... ORPHA:73263
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Premature adrenarche, Precocious puberty, Decreased muscle mass, Abnormal hea... ORPHA:96182
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Fanconi Renotubular Syndrome 5
Hypertension, Glycosuria OMIM:618913
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypertension OMIM:605635
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Hypersplenism, Splenomegaly, Mitral regurgitation, Pulmonary ar... OMIM:230800
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Uveitis, Epistaxis, Congestive heart failure, Episclerit... ORPHA:727
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly, Elevated circulating hepatic transam... OMIM:619064
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Decreased liver function OMIM:600666
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Weakness of facial musculature... OMIM:220110
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure OMIM:269920
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Splenomegaly, Cerebral hemorrhage OMIM:133100
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia, Short stature ORPHA:90153
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Dpm1-Cdg
Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, He... ORPHA:79322
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Decreased liver function, Ventricular septal defect, Overri... OMIM:617021
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepati... OMIM:212065
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Lymphadenitis, Cerebral hemorrhage OMIM:618886
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Lower limb m... ORPHA:199244
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Elevated circulating hepatic transaminase concent... ORPHA:17
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Splenomegaly, Skin rash, Myositis, Gastritis, Keratoconjunctivitis s... ORPHA:809
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Spl... ORPHA:829
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Congestiv... OMIM:617156
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hepatic failure, Secundum atrial septal defect, Umbilical hernia, Recurrent otitis media, Glue ea... OMIM:619758
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Congenital diaphragmatic hernia OMIM:166300
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice, Hypertension OMIM:603903
Steinert Myotonic Dystrophy
Hyperinsulinemia, Pelvic girdle muscle weakness, Prolonged PR interval, Secondary hyperparathyroi... ORPHA:273
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Enamel hypoplasia, Pericardial constriction, Hepatomegaly... OMIM:253250
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Elevated circulating aspartate aminotransferase c... OMIM:615595
Pituitary Apoplexy
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... ORPHA:95613
C3 Glomerulopathy
Lipodystrophy, Hypertension, Membranoproliferative glomerulonephritis ORPHA:329918
Familial Hyperaldosteronism Type I
Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis... ORPHA:403
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Ragged-red muscle... ORPHA:298
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating h... ORPHA:110
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Acne, Increased circulating ... ORPHA:786
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Int... ORPHA:404
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Postnatal growt... ORPHA:453533
Rhabdoid Tumor
Neoplasm of the liver, Hypertension, Internal hemorrhage ORPHA:69077
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Congestive heart failure, Abnormal heart morp... ORPHA:91139
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Pulmonary arterial hypertension, Jaundice, ... OMIM:215600
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Cardiomegaly, Elevated circulating hepatic transaminase concentration ORPHA:858
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hepatic steato... OMIM:619991
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Vasculitis, Pneumonia, Hematochezia, Atopic dermatitis, Hepatitis, Hypertroph... OMIM:615846
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Inguinal hernia, Cardiomegaly, Hepatomegaly OMIM:256550
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac... ORPHA:464343
Coach Syndrome 1