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
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Loss of consciousness, Syncope, Maternal diabet... ORPHA:324575
Mental Retardation, Autosomal Dominant 52
Seizure, Cryptorchidism, Anxiety, Hyperactivity OMIM:617796
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Diffuse pancreatic ... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Lethargy, Hyperinsulinemic hypoglycemi... ORPHA:276575
Hyperinsulinism Due To Insr Deficiency
Coma, Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:263458
Mental Retardation, Autosomal Dominant 45
Seizure, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Hyperinsulinism Due To Glucokinase Deficiency
Coma, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C... ORPHA:79299
Developmental And Epileptic Encephalopathy 56
Ataxia, Seizure, Status epilepticus, Anxiety, Attention deficit hyperactivity disorder, Broad-bas... OMIM:617665
Hypoglycemia, Leucine-Induced
Coma, Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia, Drowsiness OMIM:240800
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Coma, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketoti... ORPHA:276608
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hypertension, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hypertension, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hypertension, Hyperkalemia, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hypertension, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Mental Retardation, Autosomal Recessive 37
Seizure, Aggressive behavior, Hyperactivity OMIM:615493
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Ataxia, Hypoglycemia, Hypogonadism OMIM:616113
Insulinoma
Coma, Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neoplasm of the ad... ORPHA:97279
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Seizure, Irritability, Hyperactivity, Inability to walk OMIM:616657
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hemochromatosis Type 2
Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeostasis, Congenit... ORPHA:79230
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Aggressive behavior, Hyperactivity ORPHA:356996
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torti... ORPHA:36899
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 level, Lethargy, Reduced TSH response to thyrotrophin-releasing hormone ... OMIM:618573
Idiopathic Congenital Hypothyroidism
Lethargy, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concen... ORPHA:95717
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Lethargy, Dilated cardiomyopathy, Arrhyt... OMIM:602390
Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia, Coma, Lethargy, Hypoglycemia, Adrenal insufficiency, H... OMIM:307030
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hypoglycemic coma, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Hyperka... OMIM:614736
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Increased... OMIM:232700
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Hypoglycemia, Adrenal insufficienc... OMIM:619386
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Lethargy, Decreased circulating T4 level, Elevated c... ORPHA:95716
Hypoadrenocorticism, Familial
Adrenal hypoplasia, Hyponatremia, Hypoglycemia, Adrenal insufficiency, Hyperkalemia OMIM:240200
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Coma, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal h... ORPHA:263455
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Coma, Lethargy, Hepatic steatosis, Recurrent hypoglycemia, Excessive ... OMIM:212140
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Increased circ... OMIM:610600
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Lethargy, Arrhythmia, Hypoglycemia, Hepatomegaly, Sudden cardiac death, Hypertrophic cardio... ORPHA:156
Developmental And Epileptic Encephalopathy 43
Seizure, Ataxia, Hyperactivity OMIM:617113
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556037
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Anxiety, Dysme... OMIM:619191
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, N... ORPHA:199296
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Lethargy, Megaloblastic anemia, Thrombocytopenia, Congestive heart... ORPHA:49827
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes insip... ORPHA:181393
Hyperaldosteronism, Familial, Type I
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... OMIM:103900
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy, Neonatal hypoglycemia, Hypotension, Hepatic steatosis, Ventricular extrasystoles,... OMIM:212138
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Glucocortocoi... ORPHA:404
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Abnormal circ... ORPHA:403
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556030
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Decreased plasma free carnitine, Hypoglycemia, Hepatomegaly, Hyperalaninemia, ... OMIM:619048
Timothy Syndrome
Hypocalcemia, Hypothyroidism, Hypoglycemia, Cardiomegaly, Prolonged QT interval, Bradycardia OMIM:601005
Lennox-Gastaut Syndrome
Personality disorder, Generalized tonic seizure, Aggressive behavior, Focal-onset seizure, Atonic... ORPHA:2382
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration... ORPHA:361
Endocardial Fibroelastosis
Cryptorchidism, Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure, Anterior hypo... ORPHA:2022
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Carnitine Palmitoyltransferase I Deficiency
Coma, Lethargy, Arrhythmia, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Cardiomega... OMIM:255120
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Ketotic hypoglycemia, Hepatic steatosis, Elevated circulating acylcarnitine c... ORPHA:26792
Landau-Kleffner Syndrome
Generalized clonic seizure, Nocturnal seizures, Gait ataxia, Aggressive behavior, Depression, Non... ORPHA:98818
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Hypertension, Dorsocervical fat p... OMIM:615830
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cardiomegaly, Elevated transferrin saturation, Card... ORPHA:465508
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Glycine Encephalopathy
Lethargy, Aggressive behavior, Seizure, Impulsivity, Irritability, Myoclonus, Hyperactivity OMIM:605899
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Pancytopenia, Hepatomegaly, Hypog... OMIM:617872
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Hypoglycemia OMIM:609016
3-Methylglutaconic Aciduria Type 1
Coma, Dystonia, Hypoglycemia, Hepatomegaly, Progressive cerebellar ataxia ORPHA:67046
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Myoclonus, Anxiety OMIM:159900
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Lethargy, Decreased circulating ... ORPHA:90673
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Flexion contracture, Lipodystrophy, Atri... OMIM:613327
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Ataxia, Hypoglycemia, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Macroorchidism, Hyperactive renin-angiotensin system, Hypon... ORPHA:90790
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Lethargy, Decreased plasma total carnitine, Arrhythmia, Hepatic steatosis, Hypoglycemia, At... ORPHA:42
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyponatremia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoal... OMIM:264350
Immunodeficiency 8
Hyperactivity OMIM:615401
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Sheehan Syndrome
Coma, Pituitary hypothyroidism, Abnormal size of pituitary gland, Adrenocorticotropin deficient a... ORPHA:91355
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Ven... OMIM:600649
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity OMIM:300271
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyponatremia, Hyperactive renin-angiotensin system, Increased circulating renin leve... OMIM:177735
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Adre... OMIM:201400
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity ORPHA:436151
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Mehmo Syndrome
Inability to walk, Male hypogonadism, Gait ataxia, Difficulty walking, Hypoglycemia, Delayed pube... OMIM:300148
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Gait disturbance, Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus, ... OMIM:609286
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Prolonged neonatal jaundice, Congenit... ORPHA:446
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperammonemia, Lethargy, Hyperinsulinemic hyp... ORPHA:71212
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatic fi... ORPHA:369
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Cardiomegaly, Anemia, Elevated circulating cr... OMIM:618838
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypokalemia, Hypochloremia OMIM:214700
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Arrhythmia, Hyponatremia, Increased circulating renin level, Cholelithiasi... ORPHA:171876
Cushing Disease
Lethargy, Lipodystrophy, Hypertension, Telangiectasia of the skin, Hypokalemia, Diabetes mellitus... ORPHA:96253
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hypercalcemia, Eosinophilia, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:199299
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Goiter, Increased pituitary glycoprotein hormone alpha subunit le... ORPHA:90674
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Hypotension, Pituitary hypothyroidism, Hypo... ORPHA:95619
Classic Galactosemia
Cryptorchidism, Dystonia, Lethargy, Decreased serum insulin-like growth factor 1, Gait imbalance,... ORPHA:79239
Primary Pigmented Nodular Adrenocortical Disease
Hypertension, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micronodular adreno... ORPHA:189439
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Coma, Lethargy, Arrhythmia, Hypoketotic hypoglycemia, Toe walking, Tricuspid regurg... ORPHA:746
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia, Coma, Increased circulating ACTH level OMIM:202200
Primary Unilateral Adrenal Hyperplasia
Palpitations, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Dec... ORPHA:231580
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Lethargy, Elevated plasma branched chain amino acids, Abnormal cardia... ORPHA:2394
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Arrhythmia, Hypoglycemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Epistaxis, Hyperaldosteronism, Hypertension, Abnormal circulating renin,... ORPHA:369929
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Necrotizing Enterocolitis
Peritonitis, Lethargy, Leukocytosis, Hypotension, Hyponatremia, Neutropenia, Thrombocytopenia, As... ORPHA:391673
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Seizure, Status epilepticus, Hyperactivity OMIM:239500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Dilated cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentratio... OMIM:618120
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Neonatal death, Anemia, Elevated circulating ... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Neonatal death, Anemia, Elevated circulating ... OMIM:618839
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Ataxia, Hepatomegaly, Decreased serum testosterone concentration, Splenomegaly, Decreas... OMIM:201100
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Hyperaldosteronism, Familial, Type Iii
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Adrenal hyperpl... OMIM:613677
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Addison Disease
Hyperuricemia, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone level, Orthostat... ORPHA:85138
Propionic Acidemia
Arrhythmia, Hypoglycemia, Hepatomegaly, Hyperammonemia, Cardiomyopathy ORPHA:35
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia, Pseudohypoaldosteronism OMIM:145260
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Orthostatic hypotension, Hypovolemia, Hypotension, Pr... ORPHA:95409
Isolated Anencephaly
Maternal diabetes, Adrenal hypoplasia, Omphalocele, Congenital diaphragmatic hernia, Thymus hyper... ORPHA:563609
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, ... ORPHA:248111
Galactosemia
Cryptorchidism, Dystonia, Lethargy, Cirrhosis, Decreased serum insulin-like growth factor 1, Gait... ORPHA:352
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Hyperlipidemia ORPHA:2089
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Macroorchidism, Seizure, Irrit... ORPHA:3077
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Anemia, Hypoglycemia OMIM:610090
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behav... ORPHA:485350
Glycogen Storage Disease Iii
Hypoglycemia, Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration,... OMIM:232400
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Increased circulating renin level, Decreased circulating aldosterone l... OMIM:203400
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hypertension, Diabetes mellitus, Macronodular adrenal hyperplasia ORPHA:189427
Pituitary Apoplexy
Coma, Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hy... ORPHA:95613
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hyperalaninemia, Bradycardia, Left ventricular hypertrophy OMIM:614654
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Dystonia, Lethargy, Ataxia OMIM:618224
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Decreased circulating T4 level, Abnormal circulating thyroglobulin level, Pituitary hyp... ORPHA:99832
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Aggressive behavior, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Gene... OMIM:619157
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Seizure, Dysmetria, Hyperactivity, Generalized myoclonic sei... OMIM:618090
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Paroxysmal dystonia, Anxiety, Generalized-onset seizure OMIM:602066
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Truncal ataxia, Glucose intolerance, Impaired glucose tolerance, Joint contracture of t... OMIM:614407
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Lymphopenia, Hypoglycemia, Ataxia, Adrenal insufficiency, Hypertr... OMIM:617575
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Thyroid Dyshormonogenesis 1
Hypothyroidism, Lethargy, Goiter, Umbilical hernia OMIM:274400
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gait disturbance, Unsteady gait, Decreased circulating progesterone, Primary gonadal in... OMIM:603896
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Microcephaly, Seizures, And Developmental Delay
Seizure, Ataxia, Hyperactivity OMIM:613402
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Atonic seizure, Self-injurious behavior, Bilateral tonic-clonic se... ORPHA:382
Familial Hypoaldosteronism
Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating ... ORPHA:427
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Bilateral tonic-clonic seizure, Ataxia, Status epil... OMIM:271980
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
2P21 Microdeletion Syndrome
Hypocalcemia, Hypogonadism, Hypoglycemia ORPHA:163693
Mental Retardation, Autosomal Dominant 43
Seizure, Impulsivity, Anxiety, Hyperactivity OMIM:616977
Citrullinemia Type Ii
Hypercholesterolemia, Coma, Hypoalbuminemia, Hyperactivity, Elevated plasma citrulline, Hyperlipi... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Panc... ORPHA:79312
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Inapprop... ORPHA:226307
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Flexion contracture, Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyop... OMIM:618815
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Coma, Lethargy, Arrhythmia, Hypotension, Hypoke... ORPHA:159
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Increased serum serotonin, Hyperactivity ORPHA:85288
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Seizure, Irritability, Anxiety, Hyperactivity, ... OMIM:261600
Staphylococcal Necrotizing Pneumonia
Lethargy, Leukocytosis, Hypotension, Increased circulating procalcitonin concentration, Confusion... ORPHA:36238
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Dystonia, Bradycardia, Pulmonary arterial hypertension OMIM:616299
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Decreased testicular si... ORPHA:289548
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Mirage Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Intracranial hemorrhage, Lymphopenia, Hyponatremi... OMIM:617053
Mannosidosis, Beta A, Lysosomal
Seizure, Aggressive behavior, Hyperactivity OMIM:248510
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyperchloriduria OMIM:613090
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Arrhythmia, Dilated cardiomyopathy, Hypoketotic hypoglyc... ORPHA:26793
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Lethargy, Hepatocellular necrosis, Hepatic... OMIM:201475
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, D... ORPHA:1945
Cirrhosis, Familial
Micronodular cirrhosis, Lethargy, Hypertension, Jaundice, Increased level of propylene glycol in ... OMIM:215600
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Decreased testicular si... ORPHA:168558
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism, Congenital diaphragmatic hernia DECIPHER:39
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Hyperglutaminemia, Delirium, Lethargy, Ataxia, Acute hyperammonemia, Confusion, Drowsiness,... ORPHA:927
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatoc... OMIM:231100
Lujo Hemorrhagic Fever
Coma, Lethargy, Cardiac arrest, Gastrointestinal hemorrhage ORPHA:319213
Genetic Transient Congenital Hypothyroidism
Lethargy, Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result,... ORPHA:226316
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ... OMIM:604367
Central Diabetes Insipidus
Diabetes insipidus, Lethargy, Hyponatremia, Excessive daytime somnolence ORPHA:178029
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia, Sudden cardiac... OMIM:614921
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Contractures of the joints of the lower limbs, Lethargy OMIM:613710
Rasmussen Subacute Encephalitis
Inability to walk, Generalized tonic seizure, Hemidystonia, Focal-onset seizure, Generalized conv... ORPHA:1929
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Ataxia, Hypoglycemia, Dysmetria, Hypogonadotropic hypogonadism ORPHA:48431
Myxedema
Hypothyroidism, Lethargy, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Elevated circulating creat... ORPHA:439232
Typhoid
Coma, Lethargy, Arrhythmia, Gastrointestinal hemorrhage, Epistaxis, Ataxia, Hepatomegaly, Cardiac... ORPHA:99745
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Abnormality of the peritoneum, Pelvic mass, Hypoglycemia, Reduced C-pep... ORPHA:2126
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Bradycardia, Neutropenia OMIM:617248
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Photosensitiv... ORPHA:86909
Propionic Acidemia
Coma, Dystonia, Lethargy, Hyperglycinemia, Neutropenia, Hypoglycemia, Cerebellar hemorrhage, Panc... OMIM:606054
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal... ORPHA:293978
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Arrhythmia, Glucose intolerance, Hepatoc... OMIM:235200
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prol... OMIM:613027
Maple Syrup Urine Disease
Coma, Lethargy, Elevated plasma branched chain amino acids, Ataxia, Hypoglycemia, Pancreatitis, E... OMIM:248600
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Dystonia, Gait ataxia, Premature pubarche, Hypothyroidism, Gait disturbance, ... OMIM:616878
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Abnormal erythrocyte morphology, Ataxia, Confusion ORPHA:71277
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Paroxysmal supraventricular tachycardia... ORPHA:45452
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Lethargy, Hepatomegaly, Anemia, Hyperammonemia ORPHA:28
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Hemolytic anemia, Ataxia, Hepatomegaly, Jaundice, Splenomegaly, Hyperkalemia OMIM:608885
Myotonic Dystrophy 2
Palpitations, Elevated circulating creatine kinase concentration, Tachycardia, Insulin insensitiv... OMIM:602668
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Adrenocortical adenoma, Postprandial hyperglycemia, Mi... ORPHA:681
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Hypoglycemia OMIM:614741
Intellectual Developmental Disorder, X-Linked 104
Seizure, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Jaundice, Hypoalbuminemia... OMIM:617156
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Seizure, Aggressive behavior, Hyperactivity OMIM:300558
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy, Ketotic hypoglycemia, Pulmonic stenosis, Elev... ORPHA:79159
Xq25 Microduplication Syndrome
Seizure, Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Seizure, Anxiety, Hyperactivity OMIM:300979
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Coffin-Siris Syndrome 8
Seizure, Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Depression, Focal-onset seizure, Seizure, Impulsivity, Hyperactivity, Generalized-onset... ORPHA:88616
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Conjugated hyperbilirubinem... OMIM:616860
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Hypoglycemia, De... ORPHA:95496
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperuricemia, Hyperlipidemia ORPHA:364
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyperchloriduria OMIM:602522
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Ataxia, Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, Hyperam... ORPHA:27
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:202110
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Coma, Neonatal hypoglycemia, Hepatic steatosis, Excessive daytime somnolenc... ORPHA:348
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Hyperalaninemia, Episodic ataxia, Lethargy OMIM:312170
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Abnormal calcium-phosphate regulating hormone lev... ORPHA:417
Multiple Endocrine Neoplasia Type 1
Coma, Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased ci... ORPHA:652
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Flexion contracture OMIM:617105
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Hypertrophic cardiomyopathy, Ataxia, Bradykinesia OMIM:618683
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Increased serum pyruvate, Ataxia, Hyperalaninemia, Splenomegaly, Hyperprol... OMIM:619046
Infantile Liver Failure Syndrome 2
Lethargy, Hypoglycemia, Jaundice, Hyperammonemia, Cardiomyopathy OMIM:616483
Laron Syndrome
Hypercholesterolemia, Delayed puberty, Hypoglycemia, Abnormality of the endocrine system ORPHA:633
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h... ORPHA:231625
N-Acetylglutamate Synthase Deficiency
Coma, Lethargy, Increased level of L-glutamic acid in blood, Confusion, Hyperammonemia OMIM:237310
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Aminoacylase 1 Deficiency
Seizure, Hyperactivity OMIM:609924
Thyrotoxic Periodic Paralysis
Palpitations, Thyrotoxicosis with toxic multinodular goiter, Graves disease, Thyrotoxicosis with ... ORPHA:79102
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, Hype... ORPHA:289916
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Coma, Lethargy, Hepatic steatosis, Hypoglycemia, Hepatomegaly OMIM:201450
Bartter Syndrome, Type 1, Antenatal
Chondrocalcinosis, Low-to-normal blood pressure, Hyperactive renin-angiotensin system, Hyperaldos... OMIM:601678
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Flexion contracture, Cardiomyopathy OMIM:201470
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Goiter, Hypokalemia, Tachycardia, Hyperthyroidism OMIM:188580
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Attention deficit hyperactivity disorder, Increa... OMIM:188570
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Goiter, Hypokalemia, Tachycardia, Hyperthyroidism OMIM:613239
Neuroleptic Malignant Syndrome
Hypocalcemia, Coma, Hypernatremia, Hyperuricemia, Reduced consciousness/confusion, Pulmonary embo... ORPHA:94093
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Dystonia, Methylmalonic acidemia, Hypoglycemia ORPHA:289504
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Angina pectoris, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Hy... ORPHA:90970
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Seizure, Myoclonus, Hyperactivity OMIM:615924
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating sebacic acid concentration, Increased serum pyruvate, Elevat... OMIM:615160
Hyperlysinuria With Hyperammonemia
Coma, Hyperammonemia, Lethargy, Hyperlysinemia OMIM:238750
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Lethargy ORPHA:30925
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:610006
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Cardiomyopathy, Hypoglycemia ORPHA:67048
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Orthostatic hypotension, Ele... ORPHA:230
Vipoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97282
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Arrhythmia, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Cholestasis, Elevated cir... OMIM:609015
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Megaloblastic anemia, Gait disturbance, Hypomethioninemia, Hyperhomocystinemia OMIM:236270
Histiocytoid Cardiomyopathy
Lethargy, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Hypoglycemia, Poly... ORPHA:137675
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Congenital foot contractures, Neonatal hypoglycemia, Loss of ability to walk, Toe... ORPHA:565624
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Lethargy, Neutropenia, Thrombocytopenia, Inguinal hernia, Methylmalonic acidemia,... OMIM:614857
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus OMIM:616026
Fructose-1,6-Bisphosphatase Deficiency
Coma, Lethargy, Hypoglycemia, Hepatomegaly, Tachycardia OMIM:229700
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Lethargy, Goiter, Hypothyroidism, Hyperbilirubinemia, Elevated circulating thyr... OMIM:218700
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Glutamine Deficiency, Congenital
Hypoglutaminemia, Camptodactyly, Flexion contracture, Neonatal death, Hyperammonemia, Bradycardia OMIM:610015
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Gait ataxia, Unsteady gait OMIM:618158
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Type II... ORPHA:2298
Ebola Hemorrhagic Fever
Coma, Lethargy, Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Cardiac arrest, Leukopenia ORPHA:319218
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Ataxia, Hepatomegaly, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Mental Retardation, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Temple Syndrome
Cryptorchidism, Type II diabetes mellitus, Recurrent hypoglycemia, Precocious puberty, Decreased ... ORPHA:254516
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries... ORPHA:2348
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia, Hyperactivity, Hypogonadism, Atten... ORPHA:73272
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Fasting hypoglycemia, Cirrhosis, Hepatocellular adenoma, Hepatic steatosis,... ORPHA:264580
Hyperkalemic Periodic Paralysis
Arrhythmia, Gait disturbance, Flexion contracture, Hyponatremia, Hypokalemia, Congestive heart fa... ORPHA:682
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hyperuricemia, ... ORPHA:79083
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy, Hyperglycinemia, Cerebellar hemorrhage, Thrombocytopenia, Hepatomegaly, Methylmal... OMIM:251000
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia, Ventricular arrhythmia OMIM:141000
Cholera
Hypocalcemia, Lethargy, Hypotension, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration... ORPHA:173
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Lethargy, Hypoglycemia, Acute hyperammonemia, Acute hepatic steatosis OMIM:210200
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Antenatal intracerebral hemorrhage, Lethargy, Decreased plasma total c... OMIM:608836
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hepa... OMIM:611590
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Ataxia, Status epilepticus,... ORPHA:363400
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ... ORPHA:139507
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Fatigable weakness, ... ORPHA:255
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cryptorchidism, Hypoglycemia OMIM:618958
Hyperthyroidism, Familial Gestational
Tachycardia, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperth... OMIM:603373
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Increased facial adipose tissue, Insulin resistance, Increased adipose ti... ORPHA:280365
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Myoclonus, Anxiety OMIM:616398
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Flexion contracture, Bradycardia OMIM:614498
Lethal Infantile Mitochondrial Myopathy
Lethargy, Cardiomyopathy ORPHA:254857
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Lethargy, Goiter, Glucose intole... ORPHA:254892
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypert... OMIM:619064
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Jaundice, Splenomegaly, Adre... ORPHA:75234
Pseudo-Torch Syndrome 2
Lethargy, Thrombocytopenia, Hepatomegaly, Cerebral hemorrhage, Ascites, Bradycardia OMIM:617397
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Hypocalcemia, Neonatal hypoglycemia, Decreased response to growth... OMIM:606407
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ... OMIM:246200
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
3-Hydroxy-3-Methylglutaric Aciduria
Coma, Thrombocytosis, Lethargy, Leukocytosis, Hypotension, Nonketotic hypoglycemia, Recurrent hyp... ORPHA:20
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Seizure, Hyperactivity OMIM:612716
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, H... ORPHA:2088
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Focal-onset seizure, ... ORPHA:228360
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Coma, Excessive daytime somnolence, Hyperuricemia, Hypoglycemia, Hepa... OMIM:246450
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Hypertrophic cardiomyopathy OMIM:618228
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavi... OMIM:615516
Trimethylaminuria
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Hypokalemia, S... ORPHA:101016
Coproporphyria, Hereditary
Hypertension, Confusion, Jaundice, Hepatomegaly, Tachycardia, Splenomegaly OMIM:121300
Citrullinemia Type I
Coma, Lethargy, Ataxia, Torticollis, Hyperammonemia, Elevated plasma citrulline, Loss of consciou... ORPHA:247525
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia OMIM:600955
Paragangliomas 3
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:605373
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Hypotension, Congestive heart failure, Shortened PR interval, Cardiomegaly... OMIM:261740
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Hypoketotic hypoglycemia OMIM:610768
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Isolated Complex I Deficiency
Lethargy, Increased serum pyruvate, Ataxia, Hypoglycemia, Hepatomegaly, Diabetes mellitus, Hypert... ORPHA:2609
Paragangliomas 1
Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph... OMIM:168000
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Scarring, Hyperpepsinogenemia I, Atrial a... OMIM:615745
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Seizure, Hyperactivity, Precocious puberty, Broad-based gait ORPHA:457260
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper... OMIM:145600
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Enlarged ovaries, Hypothyroidism, Increased circulating... ORPHA:769
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, High-output congestive heart failure, Pulmonary arterial h... ORPHA:231222
Peripartum Cardiomyopathy
Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Cardiogenic shock, Reduced... ORPHA:563
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemic seizures, Dystonia, Arrhythmia, Elevated circulating cre... ORPHA:480864
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Hep... OMIM:615234
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Lethargy, Hypertension OMIM:605711
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Bradycardia, Third degree atrioventricular block ORPHA:40366
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Anemia, Reduced subcutaneous adipose tissue, Hyperglycemia, ... OMIM:609069
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Seizure, Hyperactivity, Broad-based gait, Happy demeanor ORPHA:411515
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Seizure, Cryptorchidism, Aggressive behavior, Hyperactivity OMIM:615824
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Hypoglycemia, Central adrenal insufficiency, Decrease... OMIM:615577
Dengue Fever
Hypoproteinemia, Lethargy, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Thrombocytopenia,... ORPHA:99828
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperalaninemia, Lethargy, Hypoglycemia OMIM:615751
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Beta-Ketothiolase Deficiency
Coma, Thrombocytosis, Hyperglycemia, Leukocytosis, Hypotension, Excessive daytime somnolence, Hyp... ORPHA:134
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Isovaleric Acidemia
Coma, Lethargy, Cerebellar hemorrhage, Thrombocytopenia, Pancytopenia, Leukopenia, Bone marrow hy... OMIM:243500
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Xanthelasma, Microvesicular hepatic steatosis, Vacu... ORPHA:275761
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Inguinal hernia, Increased se... ORPHA:96181
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Fasting hypoglycemia, Cirrhosis, Hepatocellular adenoma, Hepatocellular car... ORPHA:370
Methylcobalamin Deficiency Type Cble
Lethargy, Excessive daytime somnolence, Neutropenia, Hypertension, Pancytopenia, Drowsiness, Abno... ORPHA:2169
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Tetanus
Coma, Hypertension, Tachycardia, Elevated circulating creatine kinase concentration, Bradycardia ORPHA:3299
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Hypoglycemia, Delayed puberty, Dorsocervical fat pad, Diabetes mellitus, Broad-ba... ORPHA:391408
Sotos Syndrome 3
Hyperactivity OMIM:617169
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Cirrhosis, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis, Ataxia, ... OMIM:256810
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Low-to-normal blood pressure, Hyperactive renin-angiotensin system, Hyperaldos... OMIM:241200
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Pulmonary arteri... OMIM:278000
Graves Disease, Susceptibility To, 1
Hyperactivity, Graves disease, Goiter, Irritability OMIM:275000
Mpi-Cdg
Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Apparent Mineralocorticoid Excess
Hypertension, Abnormality of circulating cortisol level, Decreased circulating renin level, Hypok... ORPHA:320
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Hypothyroidism, Hypoglycemia, Inguinal hernia, Attention deficit hyperactivity di... ORPHA:397590
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Hyperammonemia, Hypoglycemia, Dystonia OMIM:614739
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia OMIM:618225
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Hepatomegaly, Myocardial infarc... ORPHA:330001
Tyrosinemia, Type I
Cirrhosis, Gastrointestinal hemorrhage, Hypertyrosinemia, Enlarged kidney, Hypophosphatemic ricke... OMIM:276700
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Coma, Lethargy, Hyperornithinemia, Confusion, Hepatomegaly, Hyperammonemia OMIM:238970
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Hyperkalemia, Hypertension ORPHA:757
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Low plasma citrulline, Coma, Episodic ataxia, Hyperglutaminemia, Lethargy, Ataxia, Hyperammonemia... OMIM:311250
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Primary hyperaldosteronism, Delayed puberty, Abnormal T-wave, Type... ORPHA:358
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia OMIM:618226
Intellectual Developmental Disorder, X-Linked 21
Seizure, Impulsivity, Macroorchidism, Hyperactivity OMIM:300143
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypogly... OMIM:261680
Ogden Syndrome
Cardiogenic shock, Cryptorchidism, Lethargy, Arrhythmia, Excessive daytime somnolence, Torticolli... ORPHA:276432
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Dystonia, Neonatal hypoglycemia, Microvesicular hepatic steatosis,... ORPHA:66634
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Aggressive behavior, Atonic seizure, Focal-onset seizure, ... ORPHA:168491
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Arrhythmia, Hyperkalemia, Hemolytic anemia ORPHA:57
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Self-injurious behavior, Seizure, Paroxysmal bursts of laughter, Hyperactivity OMIM:618718
Visceral Steatosis, Congenital
Hypocalcemia, Coma, Lethargy, Hepatic steatosis, Hypoglycemia, Jaundice, Neonatal death OMIM:228100
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Cryptorchidism, Testicular dysgenesis, Dysplastic testes, Bradycardia OMIM:608800
Cyclic Vomiting Syndrome
Cardiomyopathy, Attention deficit hyperactivity disorder, Lethargy, Ataxia OMIM:500007
Hereditary Fructose Intolerance
Hypophosphatemia, Coma, Hypermagnesemia, Lethargy, Hyperuricemia, Hepatomegaly, Jaundice, Reactiv... ORPHA:469
Cystinosis
Hypophosphatemia, Nephrogenic diabetes insipidus, Hypothyroidism, Gait disturbance, Delayed puber... ORPHA:213
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Seizure, Aggressive behavior, Hyperactivity, Decreased response to growth hormone stimuation test OMIM:615286
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoglycemia, Hypertrophic cardiomyopathy OMIM:618329
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Hypoglycemia OMIM:618253
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Decreased response to growth hormone stimuation test ORPHA:436174
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenit... ORPHA:352490
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Lethargy, Premature pubarche, Premature adrenarche, Central hypothyroidism, Small... ORPHA:398079
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Low plasma citrulline, Coma, Hypoargininemia, Lethargy, Ataxia, Hyperammonemia, Episodic ammonia ... OMIM:237300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Dominant Beta-Thalassemia
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231226
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Hepatocellular carcinoma, Neutropenia, Hypoglycemia, Hyperuricemia,... OMIM:232220
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Nelson Syndrome
Increased urinary cortisol level, Secondary hypercortisolism, Increased circulating cortisol leve... ORPHA:199244
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Neonatal death, Hypoglycemia, Hyperglycinemia OMIM:245400
Hsd10 Mitochondrial Disease
Hypoglycemia, Hypertrophic cardiomyopathy OMIM:300438
Scrub Typhus
Lethargy, Hypotension, Reduced consciousness/confusion, Splenomegaly, Myocarditis, Lymphadenopathy ORPHA:83317
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Pulmonic stenosis, Aortic valve stenosis, Lethargy OMIM:143880
Ethylene Glycol Poisoning
Hypocalcemia, Coma, Hypotension, Atrial fibrillation, Ataxia, Hypertension, Confusion, Drowsiness... ORPHA:31826
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Inability to walk, Arrhythmia, Hypoglycemia, Acute pancreatitis, Hepa... ORPHA:26791
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Complete Atrioventricular Septal Defect
Lethargy, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnor... ORPHA:1329
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Gait ataxia, Truncal ataxia, Hypothyroidism, Delayed puberty, Recurrent hypoglycemia OMIM:616817
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism OMIM:613743
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Hsd10 Disease, Infantile Type
Dystonia, Loss of ability to walk, Hypoglycemia, Cardiomegaly, Hyperammonemia, Hypertrophic cardi... ORPHA:391428
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren... ORPHA:89938
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia, Hypertension... OMIM:232200
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy, Hepatic steatosis, Nonketotic hypoglycemia, C... ORPHA:99901
Tenorio Syndrome
Gait disturbance, Hypoglycemia, Hypoinsulinemia, Raynaud phenomenon, Syncope OMIM:616260
Glucocorticoid Resistance, Generalized
Hypertension, Hypoglycemia OMIM:615962
East Syndrome
Inability to walk, Difficulty walking, Hyperaldosteronism, Ataxia, Increased circulating renin le... ORPHA:199343
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Decreased plasma total carnitine, Hypoketotic hypoglycemia, Hepatic steatosis, Decrea... ORPHA:228305
Evans Syndrome
Lethargy, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Epistaxis, Neutropenia in pre... ORPHA:1959
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Seizure, Impulsivity, Hyperactivity ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity OMIM:300434
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Premature adrenarche, El... ORPHA:90795
Birk-Landau-Perez Syndrome
Difficulty walking, Dystonia, Hyperkalemia, Ataxia OMIM:617595
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Atonic seizure, Focal-onset seizure, Ataxia, Simple febrile sei... ORPHA:1942
Clark-Baraitser Syndrome
Seizure, Aggressive behavior, Hyperactivity OMIM:617752
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Beta-Thalassemia Major
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231214
Pyruvate Carboxylase Deficiency
Coma, Dystonia, Hyperglycemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increas... ORPHA:3008
Multiple Carboxylase Deficiency
Coma, Hyperammonemia, Lethargy, Ataxia ORPHA:148
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Budd-Chiari syndrome, Jaundice, Hypercalcemia,... ORPHA:88673
Ck Syndrome
Seizure, Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Hypoglycemic coma, Hepatic steatosis, Hypoglyce... OMIM:231680
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Coma, Hemolytic anemia, Leukocytosis, Hyponatremia, Reduced consciousness/confusion... ORPHA:544482
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Ataxia, Hypoglycemia, ... OMIM:220111
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Increased ci... ORPHA:43
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension, Hypokal... OMIM:218030
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Hyperaldosteronism OMIM:619406
Marburg Hemorrhagic Fever
Lethargy, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Thrombocytopenia, Jaundice, Le... ORPHA:99826
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... OMIM:606176
Sepsis In Premature Infants
Leukocytosis, Hypotension, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Tachycardia, El... ORPHA:90051
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Gait disturbance, Hypoglycemia, Athetosis, Hypertrophic cardiomyopathy OMIM:618241
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Aggressive behavior, Decreased serum insulin-l... ORPHA:85327
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Hyperphosphatasia With Mental Retardation Syndrome 6
Aggressive behavior, Flexion contracture, Seizure, Inguinal hernia, Knee flexion contracture, Hyp... OMIM:616809
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Carnitine Palmitoyltransferase Ii Deficiency