Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
melanocortin 2 receptor
Synonyms:
adrenocorticotropic hormone receptor,  Acthr

IMPC Data Collections

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

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.

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 Mc2r 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.

The table below shows human diseases associated to Mc2r by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Mc2r by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, T... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314811
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... OMIM:262700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting ... ORPHA:276608
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Dil... ORPHA:79230
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card... OMIM:602390
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... OMIM:614736
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 52
Hyperalaninemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemi... OMIM:619386
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Depression, Hypertension, Increase... OMIM:615830
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased... OMIM:232700
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating th... OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency OMIM:240200
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Increased circ... OMIM:610600
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Enlarged tonsils, Abnormal ... ORPHA:293964
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Hypertens... OMIM:615954
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... ORPHA:556037
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... OMIM:617113
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestiv... ORPHA:49827
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... ORPHA:556030
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase concentration, V... OMIM:212138
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Hepatomegaly, Hypoglycemia, Congestive heart failure, Bradycardia, Left ventricu... OMIM:619048
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Lethargy, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadis... ORPHA:465508
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Glyco... ORPHA:263455
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Endocardial Fibroelastosis
Hypoglycemia, Congestive heart failure, Cryptorchidism, Restrictive cardiomyopathy, Anterior hypo... ORPHA:2022
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Cardiomegaly, Ventricular tachycardia, Atrioventricular bloc... OMIM:601005
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hypoglycemia, Hepatomegaly OMIM:609016
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Lethargy,... ORPHA:156
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... ORPHA:35878
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... ORPHA:90791
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Lethargy, Hashimoto thyroiditis, Hypopar... ORPHA:199299
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat... ORPHA:90673
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Lethargy,... ORPHA:26792
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... ORPHA:189427
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:264350
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Lethargy, Hypertrophic cardiomyopathy OMIM:246900
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... ORPHA:90790
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Neonatal Hemochromatosis
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... ORPHA:446
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:177735
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Portal fibrosis, Hepatic fi... ORPHA:369
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Depression, Hypertension, Increase... OMIM:219080
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Increased circulating fr... ORPHA:71212
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Cln3 Disease
Vacuolated lymphocytes, Increased circulating androgen concentration, Depression, Bradykinesia, T... ORPHA:228346
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Abnormality of the thyroid gland, Depression, Cardiomyopathy, Hypogonadism, Br... OMIM:609286
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent tonsillitis, Hyper... ORPHA:171876
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Macroorchidism, Neonatal hyperbilirubinemia, Pituita... ORPHA:90674
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul... ORPHA:94086
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev... OMIM:613327
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Hypokalemia, Hyperaldosteronism, Decreased circulating renin l... OMIM:613677
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Abnormal cardiac ventricular function, Elevated circulating branched chain amino ac... ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:369929
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... OMIM:214700
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce... ORPHA:91355
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia ORPHA:35
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... OMIM:615962
Necrotizing Enterocolitis
Shock, Hyponatremia, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Abnormal g... ORPHA:391673
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... OMIM:131100
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Congestive heart ... OMIM:212140
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Dila... OMIM:618120
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Lethargy ORPHA:2089
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:3077
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal di... ORPHA:563609
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyop... OMIM:614702
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Bradyc... ORPHA:226313
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Premature adrenarche, Hyponatremia, ... ORPHA:90794
Classic Galactosemia
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormal erythrocyte en... ORPHA:79239
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, C... OMIM:232400
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi... OMIM:613027
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia OMIM:615026
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, H... ORPHA:95409
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Cholestasis, Cardiomyopath... ORPHA:746
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... OMIM:613239
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Decreased circulating... OMIM:203400
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Bradycardia, Mildly elevated creatine kinase OMIM:620265
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Thyroid Dyshormonogenesis 1
Lethargy, Umbilical hernia, Hypothyroidism, Goiter OMIM:274400
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyp... ORPHA:42
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, T... OMIM:617053
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia, Hypoglycemia ORPHA:163693
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Central Diabetes Insipidus
Hyponatremia, Lethargy, Diabetes insipidus, Depression ORPHA:178029
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Elevated circulating creatine kinase concentrat... ORPHA:26793
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypoglycem... OMIM:616113
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Staphylococcal Necrotizing Pneumonia
Shock, Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Le... ORPHA:36238
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Adrenal insufficiency, Increase... ORPHA:427
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Delayed p... OMIM:300148
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden... OMIM:201475
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hypercalcemia, Infantile, 1
Lethargy, Hypercalcemia, Decreased circulating parathyroid hormone level OMIM:143880
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... ORPHA:289548
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,... ORPHA:293978
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concent... ORPHA:159
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Increased circulating renin level, Decr... ORPHA:168558
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... ORPHA:439232
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyop... OMIM:618815
Leukoencephalopathy With Vanishing White Matter 1
Decreased circulating progesterone, Primary gonadal insufficiency, Lethargy OMIM:603896
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardio... OMIM:251000
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Anemia OMIM:610090
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Atrioventricular block, Glucose intolerance, Joint contracture of the... OMIM:614407
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice, Hyperammonemia, Cardiomyopathy, Lethargy OMIM:616483
Isolated Atp Synthase Deficiency
Hyperalaninemia, Hepatomegaly, Dilated cardiomyopathy, Hyperammonemia, Hypogonadism, Arrhythmia, ... ORPHA:254913
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia, Hyperaldosteronism OMIM:605635
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutropenia, Lethargy, Pancre... ORPHA:79312
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Hyperammonemia... OMIM:606054
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... OMIM:605373
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Glycine Encephalopathy 1
Lethargy, Hyperglycinemia OMIM:605899
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Cryptorchidism, De... ORPHA:95496
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia OMIM:614741
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Impaired myocardial contractility, Adrenocortical adenoma, Postprandial hyp... ORPHA:681
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P... ORPHA:79159
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Hyperammonemia ORPHA:664
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Lethargy OMIM:618224
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Lower-limb joint contracture OMIM:613710
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Lethargy, Decreased serum testost... OMIM:201100
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s... OMIM:201810
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Low-to-no... OMIM:601678
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... OMIM:616299
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypoalbu... OMIM:617575
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart fa... OMIM:235200
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:610006
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... ORPHA:231625
Hemochromatosis, Type 2B
Hepatomegaly, Congestive heart failure, Splenomegaly, Increased circulating ferritin concentratio... OMIM:613313
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Lethargy, Arr... ORPHA:99745
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Lethargy, Hyperammonemia, Anemia ORPHA:28
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:609015
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... ORPHA:79102
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... OMIM:615160
Laron Syndrome
Abnormality of the endocrine system, Hypercholesterolemia, Hypoglycemia, Delayed puberty ORPHA:633
Hereditary Central Diabetes Insipidus
Lethargy, Diabetes insipidus ORPHA:30925
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Trimethylaminuria
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia OMIM:602079
Intellectual Developmental Disorder, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevat... ORPHA:230
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Hypertrophic cardiomyopathy OMIM:618683
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter OMIM:188580
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Maple Syrup Urine Disease
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Elevated circulating ... OMIM:248600
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Le... OMIM:619064
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Hypoglycemia, Elevated c... OMIM:614921
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia ORPHA:48431
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Hypoglycemia, Thrombocytopenia ORPHA:67048
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Atrial fibrillation, Bipolar affective disorder, Elevated cir... ORPHA:254892
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Neoplasm of t... ORPHA:2126
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancrea... OMIM:307030
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Hyperhomocystinemia, ... OMIM:614857
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Hypophosphatemia OMIM:616026
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... ORPHA:2298
Glutamine Deficiency, Congenital
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly, Neonatal death OMIM:610015
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acu... ORPHA:247585
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hypertrophic cardiomyopathy, Lethargy, Hepatomegaly OMIM:613561
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Dihydropyrimidinase Deficiency
Elevated circulating uracil concentration, Lethargy, Elevated circulating thymine concentration, ... OMIM:222748
Diarrhea 13
Recurrent hypoglycemia, Hepatic steatosis, Hypoalbuminemia OMIM:620357
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flexion contracture, Macro... OMIM:608836
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Hyp... ORPHA:173
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Recurr... ORPHA:254516
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Cardiomyopathy, Leukopenia, Le... ORPHA:27
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... ORPHA:264580
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neoplasm of the ... ORPHA:97282
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Hypoglycemia, Lethargy OMIM:229700
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... OMIM:619046
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Increa... OMIM:223360
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... ORPHA:79083
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperpl... ORPHA:96181
Hyperlysinuria With Hyperammonemia
Lethargy, Hyperlysinemia, Hyperammonemia OMIM:238750
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Hyperalaninemia, Bradycardia OMIM:614654
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocyst... OMIM:236270
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Lethargy ORPHA:71277
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Hyperammonemia, Anemia, Neutropenia, Lethargy, Pancreatitis, Thrombocytopenia ORPHA:289916
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Lethargy ORPHA:254857
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Hypertrophic cardiomyopathy, Hypoglycemia OMIM:300438
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... ORPHA:2348
Renal Hypoplasia, Bilateral
Hyponatremia, Cryptorchidism, Hyperkalemia, Hypertension, Glycosuria, Lethargy, Anemia ORPHA:97362
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H... ORPHA:137675
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Cardiac arrest, Premature thelarche, Elevated circulating creatine kinase concentra... OMIM:616878
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia OMIM:266150
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fib... OMIM:246200
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Lethargy, Hypertrophic c... ORPHA:2609
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
N-Acetylglutamate Synthase Deficiency
Lethargy, Hyperglutamatemia, Hyperammonemia OMIM:237310
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Hepatom... ORPHA:280365
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Hypophosphatem... ORPHA:2088
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia OMIM:611489
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteroni... ORPHA:89938
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Hypoglycemia, Hepatomegaly OMIM:618958
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis, Hyperammonemia OMIM:620137
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty a... OMIM:610768
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Leukocytosis, Dilated ... ORPHA:20
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Flexi... ORPHA:682
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia ORPHA:289504
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom... OMIM:615745
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:602522
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy OMIM:610498
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Bone-marrow foam... ORPHA:275761
Severe Canavan Disease
Lethargy ORPHA:314911
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... ORPHA:769
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Lethargy OMIM:618225
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Hyperlip... OMIM:232220
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperalaninemia, Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Cerebral ... ORPHA:927
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Lethargy, Hypoglycemia OMIM:201450
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... ORPHA:99828
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... OMIM:241200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Congestive heart... OMIM:261740
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Hypoglycemia, Lethargy OMIM:210200
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypertension,... ORPHA:231632
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Lethargy, Abnorm... ORPHA:99826
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Lethargy, Hypertrophic cardiomyopathy OMIM:618228
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Hypertension, Xanthelasma, ... OMIM:232200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoglycemia, Jaundice, Low plasma citrulline, Hyperglutaminemia, Hyperammonemia... OMIM:615751
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:606407
Pyruvate Dehydrogenase E1-Alpha Deficiency
Hyperalaninemia, Lethargy, Increased serum pyruvate OMIM:312170
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Apathy, Hyperuricemia, Anemia OMIM:246450
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... OMIM:620300
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Bradycardia, Neonatal hypoglycemia, Congenital foot contractures ORPHA:565624
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertroph... ORPHA:320
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Increased hepatic echogenicity, Fasting hypogl... OMIM:261680
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Neonatal hypoglycemia ORPHA:231140
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hypoglycemia, Bradycardia OMIM:220120
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Hyperaldosteronism, Familial, Type Iv
Hypertension, Hyperaldosteronism OMIM:617027
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Anemi... ORPHA:563
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Bradycardia, Lethargy, Ascites, Thrombocytopenia OMIM:617397
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocy... OMIM:243500
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... ORPHA:330001
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:618241
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Hepatomegaly, Right ventricular failure, Cardiome... ORPHA:1329
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h... ORPHA:79240
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Hypoglycemia, Elevated circulating creatine kinase concentra... ORPHA:480864
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Delayed puberty, Hypothyroidism ORPHA:391408
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Arrhythmia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... ORPHA:1959
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid... OMIM:603373
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Acute hepatitis, Lethargy OMIM:238970
Pontocerebellar Hypoplasia, Type 6
Lethargy, Elbow contracture OMIM:611523
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Hypoglycemia OMIM:617950
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Congenital contracture, Type I diabetes mellitus, Arthrog... OMIM:618397
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Absence of... ORPHA:398079
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia ORPHA:73272
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Microves... OMIM:617156
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Neutrope... OMIM:557000
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Hepatomegaly, Cardiac arrest, Lethargy, Hypertrophic cardiomyopathy OMIM:604377
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, He... ORPHA:348
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Hypoglycemia, Hyperglycinemia, Hypertaurinemia OMIM:245400
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... ORPHA:90795
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Lethargy OMIM:618226
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... OMIM:602668
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia, Anemia OMIM:618182
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentra... OMIM:251880
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an... OMIM:618775
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228305
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Dilated cardiomyopathy, Hyperglycinemia, Lethargy, Hypertrophic cardiomyopathy OMIM:614299
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... OMIM:601198
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:609152
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A... ORPHA:358
Congenital Myopathy 22A, Classic
Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Bradycardia, Congenital fi... OMIM:620351
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Hypertyrosinemia, Hypoglycemia, Elevated circulating a... OMIM:276700
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, ... ORPHA:469
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:218030
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Abnormalit... ORPHA:2169
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Cystinosis
Portal hypertension, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Delayed puber... ORPHA:213
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618126
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Hypoglycemia, Hypocalcemia, Lethargy OMIM:607143
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Hypertension, Hy... OMIM:219090
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Hypertension, Apathy, Hyperuricemia, Hy... ORPHA:134
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopeni... ORPHA:90051
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperalaninemia, Hypoglycemia, Hyperammonemia OMIM:614739
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Hyperphenylalaninemia OMIM:233910
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hyperalaninemia, Elevated circulating acylcarnitine concentration, Abnormal circulating creatine ... OMIM:615838
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... ORPHA:90796
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Pulmonary insufficienc... OMIM:602088
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Liddle Syndrome 1
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:177200
Scrub Typhus
Splenomegaly, Myocarditis, Lymphadenopathy, Hypotension, Lethargy ORPHA:83317
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h... ORPHA:5
Tetanus
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration ORPHA:3299
Tenorio Syndrome
Raynaud phenomenon, Syncope, Hypoglycemia, Hypoinsulinemia OMIM:616260
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... OMIM:619355
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... OMIM:609069
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Dilated cardio... ORPHA:66634
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... ORPHA:508
Cyclic Vomiting Syndrome
Cardiomyopathy, Lethargy OMIM:500007
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Elevated creatine kinase after exercise, Sudden cardiac death, Elevated ... ORPHA:99901
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Crigler-Najjar Syndrome
Lethargy, Jaundice, Abnormality of the liver ORPHA:205
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Increased... OMIM:215600
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Glycogen Storage Disease Ixd
Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:300559
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Inguinal hernia, Hypothyroidism, Hypoglycemia ORPHA:397590
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Hypoglycemia, Left ventricular noncompaction cardiomyopathy OMIM:248360
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Lethargy OMIM:210210
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Ogden Syndrome
Inguinal hernia, Cryptorchidism, Cardiogenic shock, Arrhythmia, Lethargy ORPHA:276432
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hepatoce... OMIM:232240
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Hypoargininemia OMIM:237300
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Cryptorchidism... ORPHA:398069
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension ORPHA:441
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulating creatine kinase concentratio... ORPHA:26791
Multiple Mitochondrial Dysfunctions Syndrome 1
Elevated circulating 2-hydroxybutyric acid concentration, Hyperglycinemia, Neonatal death, Pulmon... OMIM:605711
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hypoglycemia, Hyperammonemia, Cardiomegaly ORPHA:391428
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Hypokalemia, Primary hyperaldosteronism, Pulm... OMIM:615474
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Delayed puberty, Anemia, ... ORPHA:79259
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Recurrent hypoglycemia, Hypothyroidism, Delayed puberty OMIM:616817
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Depression, Hypertension, Anemia OMIM:184850
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Silver-Russell Syndrome 1
Testicular seminoma, Decreased response to growth hormone stimulation test, Fasting hypoglycemia,... OMIM:180860
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Citrullinemia Type I
Elevated plasma citrulline, Lethargy, Hyperammonemia ORPHA:247525
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia, Neutropenia OMIM:618253
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:617049
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia ORPHA:99845
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia, Microv... OMIM:619418
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Cardiomyopathy, Stillbirth, Neonatal death, Lethargy, Hepatic steatosis OMIM:614922
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Glutaric Acidemia Type 3
Lethargy, Abnormality of circulating enzyme level, Elevated circulating glutaric acid concentration ORPHA:35706
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Liddle Syndrome
Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia ORPHA:526
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Con... OMIM:614866
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... OMIM:251110
Smith-Kingsmore Syndrome
Cryptorchidism, Umbilical hernia, Hypoglycemia, Thrombocytopenia OMIM:616638
Developmental And Epileptic Encephalopathy 41
Lethargy, Flexion contracture OMIM:617105
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Congestive heart failure, Microvesicular hepatic steatosis, Dilated cardiomyopathy,... OMIM:611126
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... ORPHA:97214