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Gene: Mc2r MGI:96928

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH level, Abnor... OMIM:202200

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
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... ORPHA:293964
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314811
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ... OMIM:262400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte... OMIM:614492
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy, Increased circulating ferritin concentration, Hypogonadism, Congenital he... ORPHA:79230
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen... OMIM:201910
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Lethargy, Reduced TSH response to thyrotrophin-releasing ... OMIM:618573
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hypertrophic cardiomyopathy, Adrenal insufficiency, Hyperglycinemia, Hyperamylasemi... OMIM:619386
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism... OMIM:615830
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Umbi... ORPHA:95717
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c... ORPHA:95716
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Elevated circulatin... OMIM:617872
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Increased circulating cortisol level, Increased urinary cortisol level, Decreased cir... OMIM:615954
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Paroxysmal atrial tachycardia, Lethargy, Megaloblastic anemia, Thromboc... ORPHA:49827
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom... OMIM:103900
Familial Hyperaldosteronism Type I
Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis... ORPHA:403
Congenital Isolated Acth Deficiency
Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatremia, Decrea... ORPHA:199296
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati... ORPHA:404
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactiv... OMIM:617113
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Arrhythmia, Apathy, Elevated jugular venous pressure, Cirrhosis, Hepatomegaly, Hyp... ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine, Hepatic steatosis, Left ... OMIM:619048
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle... ORPHA:263455
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Hyperammonemia, Hepatic steato... OMIM:212138
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure, Cryptorchidism, Anterior hypo... ORPHA:2022
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con... ORPHA:90791
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Hypocalcemia, Cardiomegaly, Pulmonary arterial hypertension... OMIM:601005
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Hypoglycemia OMIM:609016
Late-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortis... ORPHA:556037
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k... OMIM:600649
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventricular hypertr... ORPHA:251274
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperi... ORPHA:35878
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Incr... ORPHA:90673
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Early-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortis... ORPHA:556030
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Hypertrophic cardiomyopathy, Transient hyperlipidemia, Lethargy, Arrhythmia, Hepato... ORPHA:156
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hepatic steatosis, Lethargy, Ke... ORPHA:26792
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... ORPHA:208441
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote... OMIM:264350
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Depression, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Inc... ORPHA:189427
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Hypoglycemia, Abnormal circulating androgen level, Increase... ORPHA:90790
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Hypertrophic cardiomyopathy, Lethargy, Hepatomegaly, Increased serum pyruvate OMIM:246900
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub... OMIM:613986
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote... OMIM:177735
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Acth-Independent Macronodular Adrenal Hyperplasia
Depression, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... OMIM:219080
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Hypotension, Pituitary adenoma, Graves disease, Adre... ORPHA:199299
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circula... OMIM:618838
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperlipidemia, Inc... ORPHA:369
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dilat... ORPHA:71212
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Abnormal circulating aldosterone, Gluco... ORPHA:171876
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hyp... ORPHA:231580
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Increased subcutaneous truncal adipose tissue, Increased adipose tissue aroun... OMIM:608600
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Depres... ORPHA:90674
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Splenomegaly, Bradycardia, Elevated circulating creatine ki... OMIM:613327
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Arrhythmia, Bradycard... OMIM:609286
Post-Traumatic Pituitary Deficiency
Hypotension, Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitar... ORPHA:95619
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Increased circulating prolactin concentration, Decreased circulating T4 concentration... ORPHA:99832
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Decreased circulating carnitine con... ORPHA:2394
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hyperten... OMIM:613677
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Ne... OMIM:618835
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Recurrent hypoglycemia, Hypertroph... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal death,... OMIM:618839
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h... ORPHA:94086
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Seizure, Irritability, Aggressi... ORPHA:3077
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... OMIM:214700
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level of gala... ORPHA:79237
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Propionic Acidemia
Cardiomyopathy, Hypoglycemia, Hyperammonemia, Arrhythmia, Hepatomegaly ORPHA:35
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Hyperammonemia, Elevated circula... OMIM:618120
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia, Pseudohypoaldosteronism OMIM:145260
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:453533
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adrenal hyperplasia, Hypokal... ORPHA:369929
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating dehydroepiandrost... ORPHA:90794
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia... OMIM:614702
Classic Galactosemia
Depression, Hypoglycemia, Ascites, Cryptorchidism, Lethargy, Abnormal erythrocyte enzyme concentr... ORPHA:79239
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Hyperlipidemia, Lethargy, Ketotic hypoglycemia ORPHA:2089
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia OMIM:615026
Isolated Anencephaly
Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diabetes, Ompha... ORPHA:563609
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Acute Adrenal Insufficiency
Normocytic anemia, Hypotension, Androgen insufficiency, Hypoglycemia, Increased circulating ACTH ... ORPHA:95409
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Mirage Syndrome
Hypoglycemia, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Leukopenia, Cryptorc... OMIM:617053
Glycogen Storage Disease Iii
Hepatic fibrosis, Cardiomyopathy, Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kin... OMIM:232400
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Hypoketotic hypog... ORPHA:746
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Goiter, Decreas... ORPHA:226313
Addison Disease
Adrenal calcification, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen insufficiency, Primary... ORPHA:85138
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Mildly elevated creatine kinase, Bradycardia OMIM:620265
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circu... OMIM:203400
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... OMIM:613027
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hyperammonemia, Hepatic steatosis, Elevated circulating creatine kinase concentrati... ORPHA:42
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock, Leukopenia, Leukocytosis, Increased circulating procalcitonin concentration, ... ORPHA:36238
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... ORPHA:226307
Thyroid Dyshormonogenesis 1
Lethargy, Hypothyroidism, Umbilical hernia, Goiter OMIM:274400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hypokalemia, Increased circulating T4 concentration, Increased circulating free T4 concen... OMIM:613239
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Hypo... ORPHA:26793
Central Diabetes Insipidus
Hyponatremia, Depression, Lethargy, Diabetes insipidus ORPHA:178029
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Hyperammonemia, Hepatic steatosis, Elevated circulating creatine kinase... OMIM:255120
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia, Hypoglycemia ORPHA:163693
Necrotizing Enterocolitis
Hypotension, Shock, Hyperglycemia, Ascites, Leukocytosis, Abnormal glucose homeostasis, Bradycard... ORPHA:391673
Familial Hypoaldosteronism
Hypotension, Adrenal insufficiency, Hyponatremia, Hypovolemia, Decreased circulating aldosterone ... ORPHA:427
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype... OMIM:201475
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... OMIM:606069
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH level, Abnor... OMIM:202200
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A... ORPHA:289548
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Hypogo... OMIM:616113
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Flexion contrac... OMIM:618815
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Bradycardia, Hepatome... OMIM:618235
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Male hypogonadism, Delayed puberty, Hypogl... OMIM:300148
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hypoglycemia, Increased circulating f... OMIM:231100
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, C... ORPHA:168558
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co... ORPHA:159
Hypercalcemia, Infantile, 1
Lethargy, Hypercalcemia, Decreased circulating parathyroid hormone level OMIM:143880
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia OMIM:613090
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper... ORPHA:439232
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... OMIM:218700
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Hypoglycemia OMIM:610090
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Primary gonadal insufficiency, Decreased circulating progesterone OMIM:603896
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Splenomegaly, Hyperammonemia, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytope... ORPHA:79312
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Hypoglycemia, Hyperammonemia, Lethargy, Jaundice OMIM:616483
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly... OMIM:201100
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Hyperammonemia, Lethargy, Hypo... ORPHA:254913
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Glucose intolerance, Joint contracture of the 5th finger, Bradycardia, Im... OMIM:614407
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Propionic Acidemia
Hypoglycemia, Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Lethar... OMIM:606054
Cortisone Reductase Deficiency 2
Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio... OMIM:614662
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Glycine Encephalopathy 1
Lethargy, Hyperglycinemia OMIM:605899
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Hypothyroidism, Delayed puberty, Adren... ORPHA:95496
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Lethargy OMIM:618224
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Lethargy, Cerebellar h... OMIM:251000
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Bilateral cryptorchidism, Increased circulating ACTH level,... OMIM:607398
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Lethargy OMIM:613710
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Second degree atrioventricular ... ORPHA:79102
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly, Hypoglycemia ORPHA:664
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:79159
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Hypoglycemia OMIM:614741
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:610006
Glycogen Storage Disease Iv
Cardiomyopathy, Ascites, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly, ... OMIM:232500
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B... OMIM:616299
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypertension, Hypokalemia OMIM:605635
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia OMIM:202110
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... ORPHA:66529
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Lethargy, Arrhythmia, Hepatomegaly, Cardiac... ORPHA:99745
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Chondrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Hypom... OMIM:601678
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hypoglycemia, Delayed puberty, Anterior hypopituitarism ORPHA:631
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Adrenocortical adenoma, Postprandial hyper... ORPHA:681
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Lethargy, Hyperammonemia ORPHA:28
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, ... OMIM:617575
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... ORPHA:231625
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating... OMIM:613313
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy OMIM:606777
Hemochromatosis, Type 1
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:235200
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Osteopetrosis, Autosomal Recessive 9
Anemia, Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Congestive heart failur... OMIM:609015
Trimethylaminuria
Depression, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Hereditary Central Diabetes Insipidus
Lethargy, Diabetes insipidus ORPHA:30925
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Lethargy, Bradykinesia OMIM:618683
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Hypokalemia, Hyperthyroidism, Tachycardia OMIM:188580
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Pelvic mass, Hypophosphatemic rickets, Neoplasm of the live... ORPHA:2126
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... ORPHA:230
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Inguinal hernia, Cryptorchidism, Hypomethi... OMIM:614857
Pituitary Apoplexy
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... ORPHA:95613
Laron Syndrome
Abnormality of the endocrine system, Delayed puberty, Hypoglycemia, Hypercholesterolemia ORPHA:633
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Panc... OMIM:251110
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperprolinemia, Cardiomegaly, Lethargy, Pulmonary arterial hypertension, Hyperalaninemia, Hepato... OMIM:619064
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Depression, Dilated cardiomyopathy, Goiter, Reduced left ventricular ejectio... ORPHA:254892
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Finger joint contracture, Hypoglycemia, Flexion contracture of toe ORPHA:48431
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Lethargy, Decreased mean corpuscular volume, He... OMIM:611590
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Cardiomyopathy, Thrombocytopenia ORPHA:67048
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hypogl... OMIM:614921
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Lethargy, Pancreatit... ORPHA:27
Glutamine Deficiency, Congenital
Hyperammonemia, Neonatal death, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexion contracture OMIM:610015
Hyperlysinuria With Hyperammonemia
Lethargy, Hyperlysinemia, Hyperammonemia OMIM:238750
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Sideroblastic anemia, Lethargy, Hepatomegaly OMIM:613561
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Inguinal hernia, Increased serum testosterone level, Thrombocytop... ORPHA:96181
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Hepatomegaly, Diabetes mellitus OMIM:616026
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Cholera
Hypovolemic shock, Hypotension, Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Lethargy, ... ORPHA:173
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis, Recurrent hypoglycemia OMIM:620357
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ... OMIM:248600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Arrhythmia, Hepatomegaly, Macrovesicular hepatic steatosis, El... OMIM:608836
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating tiglylglycine concentration OMIM:300438
Renal Hypoplasia, Bilateral
Glycosuria, Cryptorchidism, Hyponatremia, Lethargy, Anemia, Hyperkalemia, Hypertension ORPHA:97362
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased HDL cholesterol concentration, Delayed menarche, Hyp... ORPHA:247585
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased circulating carnitine concentration, Hypoglycemia, Hepatic steatosis, Lethargy, Hepatom... OMIM:201450
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating dihy... OMIM:223360
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Decreased circulating cortisol level, Anemia, Hypertension, Reduced cir... OMIM:611489
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Lethargy, Hypoglycemia OMIM:229700
Lethal Infantile Mitochondrial Myopathy
Lethargy, Cardiomyopathy ORPHA:254857
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Hypomethioninemia, Lethargy, Megaloblastic anemia, Hyperhomocystinemia, Methyl... OMIM:236270
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased seru... OMIM:619046
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Hypoglycemia, Cardiomyopathy, Cholestasis, Splenomegaly, Hepat... ORPHA:264580
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy, Abnormal erythrocyte morphology ORPHA:71277
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Hyperalaninemia, Bradycardia OMIM:614654
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Congestive ... ORPHA:137675
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... ORPHA:79083
Meningococcal Meningitis
Hypotension, Shock, Lethargy, Increased circulating procalcitonin concentration, Elevated circula... ORPHA:33475
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cryptorchidism, Hypoglycemia OMIM:618958
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Hypoglycemia, Joint contracture, Increased circulating prolactin concentration ORPHA:35708
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating glycine concentra... ORPHA:79096
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... OMIM:151660
Isolated Complex I Deficiency
Hypoglycemia, Hypertrophic cardiomyopathy, Lethargy, Hepatomegaly, Increased serum pyruvate, Diab... ORPHA:2609
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... OMIM:145600
Cushing Disease
Depression, Increased circulating cortisol level, Increased urinary cortisol level, Increased cir... ORPHA:96253
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Hypoglycemia, Torsade de pointes, Hypertrophic ... OMIM:616878
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Hepatic steatosis,... ORPHA:280365
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Recurrent hypoglycemia, Leukopenia, Leukocytosis, Hyperammon... ORPHA:20
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hypotension, Hyperkalemia, Adrenal calcification, Ascites, Hepatosplenomegaly, ... ORPHA:275761
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Recur... ORPHA:293978
Hyperkalemic Periodic Paralysis
Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona... ORPHA:682
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomega... ORPHA:2348
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hyperammonemia, Hypoglycemia OMIM:620137
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchid... OMIM:307030
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Neonatal death OMIM:610498
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Left... OMIM:163800
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Br... OMIM:610768
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Abnormal hepatic glycogen storage, Increased hepatic glyc... ORPHA:2088
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ascites, Left... OMIM:261740
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cerebral ischemia, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Lethargy, Hyperalanin... ORPHA:927
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia OMIM:602522
Severe Canavan Disease
Lethargy ORPHA:314911
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia ORPHA:40366
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Dicarboxylic acidemia, Methylmalonic acidemia ORPHA:289504
Pigmented Nodular Adrenocortical Disease, Primary, 2
Depression, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ... OMIM:610475
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:769
Dengue Fever
Epistaxis, Gastrointestinal hemorrhage, Hypotension, Ascites, Leukopenia, Lethargy, Thrombocytope... ORPHA:99828
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Increased serum pyruvate OMIM:618225
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Tachycardia, Jaundice, Shock, Elevated circul... ORPHA:99826
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Lethargy, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldos... OMIM:241200
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Lethargy, Left ventricular hypertrophy OMIM:618228
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Neonatal hypoglycemia, Cryptorchidism, Bradycardia ORPHA:565624
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Lethargy, Low... OMIM:615751
Glycogen Storage Disease Ib
Hypoglycemia, Xanthelasma, Hyperlipidemia, Splenomegaly, Hyperuricemia, Delayed puberty, Pancreat... OMIM:232220
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin syst... ORPHA:89938
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Increased serum pyruvate, Hyperalaninemia OMIM:312170
D-Glyceric Aciduria
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Hypoglycemia, Bradycardia OMIM:220120
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left vent... OMIM:620646
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Hyperkalemia, Hypertension ORPHA:757
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Hypocalcemia, Hyper... OMIM:606407
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio... OMIM:605373
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Leukocyt... ORPHA:94093
Glycogen Storage Disease Ia
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty, Pancreatitis, Fasting ... OMIM:232200
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Mitral regurgitation,... OMIM:620300
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Evans Syndrome
Epistaxis, Autoimmune hemolytic anemia, Lethargy, Syncope, Neutropenia in presence of anti-neutro... ORPHA:1959
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Pseudo-Torch Syndrome 2
Ascites, Bradycardia, Lethargy, Thrombocytopenia, Cerebral hemorrhage, Hepatomegaly OMIM:617397
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri... ORPHA:563
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citrulline, Fasting h... OMIM:261680
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise ORPHA:57
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... OMIM:168000
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Lethargy, Cerebellar hemorrhage, Thrombocy... OMIM:243500
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:618241
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Diffuse alveolar hemorrhage, Bun... ORPHA:99827
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hypomethioninemia, Lethargy, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Jaundice OMIM:250940
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypoglycemia, Hepatic steatosis, Hepatomegaly, Hypop... OMIM:605911
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension OMIM:617027
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hyperammonemia, Lethargy, Hepatomegaly OMIM:238970
Pontocerebellar Hypoplasia, Type 6
Lethargy, Elbow contracture OMIM:611523
Combined Oxidative Phosphorylation Deficiency 39
Type I diabetes mellitus, Congenital contracture, Sinus bradycardia, Joint contracture, Flexion c... OMIM:618397
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Hypoglycemia, Abnormal EKG, Hyperammonemia, Ele... ORPHA:480864
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogona... ORPHA:398079
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Dorsocervical fat pad, Hypothyroidism, Delayed puberty, Diabetes mellitus ORPHA:391408
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Depression, Increased circulating cor... OMIM:610489
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase conc... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Hypoglycemia OMIM:617950
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Congestive heart failure, Cholestasis, Ascites... OMIM:617156
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Type I diabetes mellitus, Exocrine pancreatic insufficiency, Sideroblastic an... OMIM:557000
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Lethargy, Hepatomegaly, Cardiac arrest, Increased serum pyruvate OMIM:604377
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia, Insulin resistance ORPHA:73272
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Lethargy OMIM:618226
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Myotonic Dystrophy 2
Insulin insensitivity, Hypogonadism, Palpitations, Type II diabetes mellitus, Elevated circulatin... OMIM:602668
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenal hyperplasia, Polycystic o... ORPHA:95699
Orthostatic Hypotension 2
Anemia, Orthostatic hypotension, Hypoglycemia OMIM:618182
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating renin level, Hypokalemia, Decrea... ORPHA:320
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hepatic steatosis, Hyperuricemia, Hyperalaninemia, Fas... ORPHA:348
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Hyperglycinemia, Hypoglycemia, Neonatal death OMIM:245400
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Cryptorchidism, Hypoglycemia, Hypocalcemia OMIM:607143
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperglycinemia, Lethargy, Hepatomegaly OMIM:614299
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia, Hip contracture, Neonatal death, Achilles tendon contractur... OMIM:620351
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Bi... OMIM:620454
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hypoketotic hypoglycemia, Decre... ORPHA:228305
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ... OMIM:618775
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:603373
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Hyp... ORPHA:2169
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR interval, ... ORPHA:358
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... OMIM:601198
Hereditary Fructose Intolerance
Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Lethargy, Hypophosphatemia, Hepatomegaly, ... ORPHA:469
Scrub Typhus
Hypotension, Splenomegaly, Lethargy, Lymphadenopathy, Myocarditis ORPHA:83317
Beta-Ketothiolase Deficiency
Hypotension, Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Apathy, Th... ORPHA:134
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia ORPHA:101150
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Hypoglycemia, Congestive heart failure, Hyperammonemia, Cardiomegaly, Sev... OMIM:620609
Cystinosis
Type I diabetes mellitus, Portal hypertension, Hypokalemia, Hypophosphatemia, Hypothyroidism, Del... ORPHA:213
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh... OMIM:251880
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Cystathioninemia, Bradycardia, Hypomethioninemia, Lethargy, Pulmonary arterial hyper... OMIM:277400
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia OMIM:208155
Tenorio Syndrome
Hypoinsulinemia, Syncope, Raynaud phenomenon, Hypoglycemia OMIM:616260
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:218030
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:618126
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat... OMIM:615838
Ogden Syndrome
Cardiogenic shock, Inguinal hernia, Cryptorchidism, Lethargy, Arrhythmia ORPHA:276432
Sepsis In Premature Infants
Hypotension, Leukocytosis, Splenomegaly, Bradycardia, Hepatomegaly, Jaundice, Elevated circulatin... ORPHA:90051
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperalaninemia, Hyperammonemia, Hypoglycemia OMIM:614739
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... OMIM:609152
Nephronophthisis 2
Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia, Hypertensio... OMIM:602088
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, H... ORPHA:5
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Glucose intolerance, Hypokalemia, Hypertensi... OMIM:219090
Tetanus
Tachycardia, Hypertension, Bradycardia, Elevated circulating creatine kinase concentration ORPHA:3299
Tyrosinemia, Type I
Hypermethioninemia, Gastrointestinal hemorrhage, Hypoglycemia, Hypertrophic cardiomyopathy, Ascit... OMIM:276700
Immunodeficiency 10
Hypoglycemia, Splenomegaly, Autoimmune hemolytic anemia, Amelogenesis imperfecta, Abnormal lympho... OMIM:612783
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Ascites, Lethargy, Pulmonary arterial hypertension, Ci... OMIM:215600
Cyclic Vomiting Syndrome
Lethargy, Cardiomyopathy OMIM:500007
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Liddle Syndrome 1
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:177200
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Ectopic Aldosterone-Producing Tumor
Epistaxis, Decreased circulating renin level, Hypokalemia, Ovarian neoplasm, Hypertension, Glucoc... ORPHA:231632
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Hypoglycemia, Congestive heart failure... OMIM:619355
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Decreased circulating carnitine concentration, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Acu... OMIM:210210
Crigler-Najjar Syndrome
Jaundice, Lethargy, Abnormality of the liver ORPHA:205
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Cryptorchidism, Hypoglycemia, Inguinal hernia ORPHA:397590
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Hypotension, Ectopic anterior pituitary gland, Hypoglycemia, Decreas... ORPHA:90695
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Anemia, ... OMIM:609069
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Bilateral cryptorchidis... ORPHA:66634
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogonadism, Absence of puber... ORPHA:398069
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hyperammonemia, Lethargy, Low plasma citrulline, Hypoargininemia, Episodic ammonia intoxication OMIM:237300
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Hyperphenylalaninemia OMIM:233910
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia OMIM:248360
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Hypocalcemia, Arrhythmia, Hyperkalemia, Highly elevated creatine kinase ORPHA:99845
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C... ORPHA:470
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Delayed puberty, Cryptorchidism, Recurrent hypoglycemia OMIM:616817
Multiple Mitochondrial Dysfunctions Syndrome 1
Hyperglycinemia, Neonatal death, Lethargy, Pulmonary arterial hypertension, Elevated circulating ... OMIM:605711
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Glycogen Storage Disease Ic
Spider hemangioma, Hypoglycemia, Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Chronic pancrea... OMIM:232240
Glycogen Storage Disease Ixd
Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:300559
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:26791
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased circulating carnitine concentration, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hepat... OMIM:246450
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia, Hypoglycemia ORPHA:391428
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Testicular seminoma, Fasting hypoglycemia,... OMIM:180860
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia, Dysplastic testes, Cryptorchidism, Testicular dysgenesis OMIM:608800
Stiff-Person Syndrome
Depression, Hypertension, Anemia, Tachycardia, Diabetes mellitus OMIM:184850
Citrullinemia Type I
Lethargy, Elevated plasma citrulline, Hyperammonemia ORPHA:247525
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Left ventri... OMIM:615474
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Chronic neutropenia, Hypothyroi... ORPHA:79259
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia, Neutropenia OMIM:618253
Smith-Kingsmore Syndrome
Hypoglycemia, Cryptorchidism, Thrombocytopenia, Umbilical hernia OMIM:616638
Glutaric Acidemia Type 3
Lethargy, Elevated circulating glutaric acid concentration, Abnormal circulating enzyme concentra... ORPHA:35706
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Hepatic steatosis, Neonatal death, Lethargy, Stillbirth, Hepatomegaly OMIM:614922
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Liddle Syndrome
Hypokalemia, Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Increased circulating very long-chain fatty acid concentration, Tricuspid r... OMIM:614866
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... OMIM:619418
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Lethargy, Thrombocytopenia, Hypernatremia OMIM:620423
N-Acetylglutamate Synthase Deficiency
Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Lethargy, Low plasma citrulline, Hyperalani... OMIM:237310
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Leukocytosis, Hypocalcemia, Hyponatremia, Hypertension, Pancreatitis, Thromb... ORPHA:544482
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Cryptorchidism, Hypoglycemia OMIM:619075
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,... ORPHA:699
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Hypoglycemia, Congestive heart failure, Hypertrophic cardiomyopathy, Micr... OMIM:611126
Developmental And Epileptic Encephalopathy 41
Lethargy, Flexion contracture OMIM:617105
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Ascites, Hyperammonemia, Cirrhosis, Jaundice, Conjugated hyperbilirubinemia, Elevat... OMIM:617049
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Supraventricular tachycardia, High-output congestive heart failure, Premature ... ORPHA:423
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... ORPHA:97214
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Hyperbilirubinemi... OMIM:227810
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hepatic steatosis, Hyp... OMIM:229600
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Pyruvate Dehydrogenase Deficiency
Lethargy, Multiple lipomas ORPHA:765
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne... OMIM:231680
Holocarboxylase Synthetase Deficiency
Lethargy, Hyperammonemia, Thrombocytopenia ORPHA:79242
Basilicata-Akhtar Syndrome
Precocious puberty, Camptodactyly, Neonatal hypoglycemia OMIM:301032
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hepatomega... OMIM:277380
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hypoketotic hypoglycemia, Decre... ORPHA:228308
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Cardiomyopathy, Hepatic steatosis,... ORPHA:445038
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas... OMIM:201750
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Cardiomyopathy, Thrombocytopenia OMIM:617710
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hypoketotic hypoglycemia, Decre... ORPHA:157
Dihydropyrimidinase Deficiency
Elevated circulating thymine concentration, Elevated circulating creatine kinase concentration, L... OMIM:222748
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia OMIM:619272
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Neonatal death OMIM:618232
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Palpitations, Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase ... ORPHA:565612
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia... OMIM:608885
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Pulmonary emboli... ORPHA:79282
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Lethargy, Megaloblastic anemia, Hyperhomocy... OMIM:277410
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Cardiomyopathy, Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, R... OMIM:608594
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperalaninemia, Macrovesicular hepat... OMIM:618329
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... ORPHA:3008
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo... ORPHA:466650
Lujo Hemorrhagic Fever
Hypotension, Shock, Lymphopenia, Leukopenia, Leukocytosis, Myocarditis, Thrombocytopenia, Bradyca... ORPHA:319213
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Lethargy, Thrombocytopenia, Neutrope... OMIM:251100
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Adrenal gland agenesis OMIM:611812
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Tric... OMIM:620306
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ... OMIM:231530
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Hypoglycemia, Hyperammonemia, Hepati... OMIM:617093
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Hypocalcemia, Prolonged QT interval, Atrial fibrill... ORPHA:31826
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Thyroid carcinoma, Hashimoto thyroiditis, Telangiectasia, Angina pectoris, Lipoma, ... ORPHA:109
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... OMIM:620152
Susac Syndrome
Lethargy, Apathy ORPHA:838
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia, Hypoglycemia, Hypothyroidism, Joint contracture OMIM:618005
Shigellosis
Hypovolemic shock, Microangiopathic hemolytic anemia, Hypoglycemia, Cholestasis, Leukocytosis, Hy... ORPHA:810
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Hyperphosphatemia, Subconjunctival hemorrhage, Shock, Elevated circulatin... ORPHA:340
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Lethargy, Reticulocytopenia,... OMIM:275350
Glossopharyngeal Neuralgia
Jaw claudication, Syncope, Depression, Bradycardia ORPHA:221098
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
East Syndrome
Hyperaldosteronism, Hypomagnesemia, Hypokalemia, Increased circulating renin level ORPHA:199343
Methylmalonic Acidemia With Homocystinuria Type Cblf
Elevated circulating palmitoleylcarnitine concentration, Reduced number of intrahepatic bile duct... ORPHA:79284
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypoglycemia, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Splenomegaly, ... OMIM:252010
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Hyperkalemia, Hypertension OMIM:617595
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal death... OMIM:619055
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... OMIM:616007
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Palpitations, Sinus bradycardia, Elevated circulating creat... OMIM:616812
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hypertrophic cardiomyopathy, Decreased serum leptin, Hyperinsulinemia, Elevated... OMIM:269700
Beckwith-Wiedemann Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglyce... ORPHA:116
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Poly... ORPHA:2969
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome, P... ORPHA:447
Citrullinemia, Classic
Hyperammonemia, Hyperglutaminemia, Lethargy, Cirrhosis, Hypoargininemia, Hepatomegaly, Elevated p... OMIM:215700
Biotinidase Deficiency
Hepatomegaly, Hyperammonemia, Lethargy, Splenomegaly OMIM:253260
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary... ORPHA:95494
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Lethargy, Thrombocytopenia, Mele... ORPHA:319218
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Pancytopenia, Lethargy, Left ventricular hypertrophy, Tachycardia OMIM:618321
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hilar lymph node enlargement, Tricuspid regurgitation, Cholestasis, Leukocytosis, Lethargy, Pulmo... OMIM:620233
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hyperammonemia, Hypoglycemia OMIM:615453
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia, Congestive heart failure, Splenomegaly, Elevated circulating creatine kinase concen... OMIM:608779
Colchicine Poisoning
Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Leukocytosis, Hypocalce... ORPHA:31824
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Seizure ORPHA:309246
Holoprosencephaly
Hypoglycemia, Panhypopituitarism, Abnormality of the spleen, Cryptorchidism, Congenital diaphragm... ORPHA:2162
Glutaric Acidemia I
Hepatomegaly, Elevated circulating glutaric acid concentration, Hypoglycemia OMIM:231670
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Acute Liver Failure
Gastrointestinal hemorrhage, Depression, Hypotension, Hepatitis, Hypoglycemia, Hepatocellular nec... ORPHA:90062
Bartter Syndrome, Type 3
Hypotension, Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyperactive renin-angiotensin sys... OMIM:607364
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Difficulty walking, Restle... ORPHA:100924
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Cryptorchidism, Hyponatremia, Decre... ORPHA:79324
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... OMIM:171420
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical... OMIM:130650
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Elbow contracture, Inguinal hernia, Hypoglycemia, Umbilical hernia OMIM:620275
Andersen Cardiodysrhythmic Periodic Paralysis
Depression, Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Hypokalemia, Syncop... OMIM:170390
Carney Triad
Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Ascites, Pheochromocyt... ORPHA:139411
Yellow Fever
Pancreatic hyperplasia, Shock, Elevated circulating creatinine concentration, Reduced left ventri... ORPHA:99829
Silver-Russell Syndrome
Premature adrenarche, Precocious puberty, Insulin resistance, Recurrent hypoglycemia, Decreased t... ORPHA:813
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrine pancreatic in... OMIM:619004
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hypertension OMIM:614653
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Neutropenia, Bradycardia, Jaundice, Neonatal hypoglycemia OMIM:617248
Perlman Syndrome
Visceromegaly, Hypoglycemia, Ascites, Congenital diaphragmatic hernia, Cryptorchidism, Pancreatic... OMIM:267000
Gitelman Syndrome
Hypotension, Chondrocalcinosis, Hypomagnesemia, Palpitations, Hypokalemia, Ventricular tachycardi... OMIM:263800
Argininosuccinic Aciduria
Hepatic fibrosis, Hyperammonemia, Increased circulating argininosuccinic acid, Hyperglutaminemia,... OMIM:207900
Proximal Spinal Muscular Atrophy
Elbow flexion contracture, Multiple joint contractures, Knee flexion contracture, Bradycardia, Fl... ORPHA:70
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Hepatosplenomegaly, Cholecyst... OMIM:301066
Holocarboxylase Synthetase Deficiency
Lethargy, Hyperammonemia, Thrombocytopenia OMIM:253270
Simpson-Golabi-Behmel Syndrome
Polysplenia, Supernumerary nipple, Camptodactyly of finger, Umbilical hernia, Hypoglycemia, Bundl... ORPHA:373
Pure Autonomic Failure
Syncope, Abnormality of circulating catecholamine level, Orthostatic hypotension ORPHA:441
Scorpion Envenomation
Acute pancreatitis, Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bu... ORPHA:466677
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Neonatal hypoglycemia, Pulmonic stenosis OMIM:617600
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hypertension, Increased circulating renin level OMIM:612780
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Depression, Hypoglycemia, Recurrent hypoglycemia, Hypertrophic cardiomyopath... OMIM:124000
Semilobar Holoprosencephaly
Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp... ORPHA:220386
Alobar Holoprosencephaly
Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp... ORPHA:93926
Lobar Holoprosencephaly
Depression, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhyp... ORPHA:93924
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Hypoglycemia, Supernumerary nipple ORPHA:457279
Cog8-Cdg
Hypoglycemia ORPHA:95428
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Abnormality of the adrenal glands, Lethargy, Arrhythmia ORPHA:68
Congenital Syphilis
Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Prolonged neonatal jaundice, Panc... ORPHA:499009
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis, Omphalocele, Stillbirth OMIM:236680
Bohring-Opitz Syndrome
Cholelithiasis, Congenital contracture, Annular pancreas, Cardiomegaly, Bradycardia, Bilateral wr... ORPHA:97297
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Micronodular cirrhosis, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hepatocellular necrosi... OMIM:256810
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Cryptorchidism ORPHA:457485
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia, Flexion c... OMIM:616271
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypoglycemia, Cholestasis, Ascites, Pancytopenia, Portal hypertension, Inguinal ... OMIM:613658
Neurooculorenal Syndrome
Ectopic posterior pituitary, Central hypothyroidism, Recurrent hypoglycemia, Decreased circulatin... OMIM:620305
Leigh Syndrome
Hypoglycemia, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint contractures,... ORPHA:506
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperglutaminemia, Lethargy, Low plasma citrulline, Elevated circulating uracil c... OMIM:311250
Tetraamelia Syndrome 1
Asplenia, Congenital diaphragmatic hernia, Adrenal gland agenesis OMIM:273395
Immunodeficiency 59 And Hypoglycemia
Arteritis, Hypoglycemia, Prolonged neonatal jaundice, Decreased proportion of class-switched memo... OMIM:233600
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Juvenile Nephropathic Cystinosis
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Cystathioninemia, Hyperhomocystinemia, Hypomethioninemia ORPHA:395
Hydranencephaly
Atrophic pituitary gland, Lethargy, Antenatal intracerebral hemorrhage ORPHA:2177
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Hypoglycemia OMIM:620224
Sotos Syndrome
Prolonged neonatal jaundice, Neonatal hypoglycemia, Cryptorchidism, Glucose intolerance OMIM:117550
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Polycythemia, Cardiomyopathy, Palpitations, Neoplasm of... ORPHA:892
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Congestive heart... ORPHA:73224
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Hypoglycemia OMIM:620451
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Glycosuria, Hypomagnesemia, Exo... OMIM:219800
Neuroblastoma
Elevated circulating catecholamine level, Increased circulating ferritin concentration, Abdominal... ORPHA:635
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Premature adrenarche, Precocious puberty, Insulin resistance, Decreased response to growth hormon... ORPHA:96182
Basal Ganglia Disease, Biotin-Thiamine Responsive
Lethargy OMIM:607483
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Flexion contracture, Cardiomyopathy OMIM:201470
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatitis, Abnormal circulating citrulline concentration, Hyperornithinemia, Hyperammonemia, Leth... ORPHA:415
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hepatic cysts, Hypokalemia, Hepatomegaly, Jaundice... OMIM:613095
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Lethargy OMIM:608643
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Glycosuria OMIM:134600
Oculodentodigital Dysplasia
Hypoglycemia, Umbilical hernia, Abnormal dental enamel morphology, Camptodactyly of finger, Arrhy... ORPHA:2710
Infantile Nephropathic Cystinosis
Glycosuria, Abnormality of thyroid physiology, Hypokalemia, Hypophosphatemia, Abnormal blood ion ... ORPHA:411629
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia OMIM:175500
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph... ORPHA:3337
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia, Hypertrophic cardiomyopathy, Hepatic steatosis, Hepatomegaly, Flexion contracture, ... ORPHA:17
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... OMIM:171300
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Mercury Poisoning
Hypokalemia, Tachycardia, Hypotension, Hypertension ORPHA:330021
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Cerebral Visual Impairment
Intracranial hemorrhage, Neonatal hypoglycemia, Ischemic stroke ORPHA:447788
Helix Syndrome
Hypokalemia, Hyperparathyroidism, Hypermagnesemia OMIM:617671
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Enamel hypoplasia, Bradycardia, Anemia, Abnormal blood ion concentration ORPHA:79404
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto... OMIM:115310
Biotinidase Deficiency
Lethargy, Hyperammonemia ORPHA:79241
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Cervical lymphadenopathy, Lymphopeni... OMIM:619573
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Gastrointestinal hemorrhage, Hypoglycemia, Umbilica... ORPHA:565
X-Linked Dominant Chondrodysplasia Punctata
Flexion contracture, Scarring alopecia of scalp, Neonatal hypoglycemia ORPHA:35173
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Hypoglycemia, Umbilical hernia OMIM:614501
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Congenital contracture, Thymus hyperplasia OMIM:619036
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Neonatal hypoglycemia, Thrombocytopenia ORPHA:572798
Medulloblastoma
Lethargy, Cerebellar hemorrhage ORPHA:616
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Neonatal death, Scarri... OMIM:614437
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Trichinellosis
Retinal hemorrhage, Lethargy, Apathy ORPHA:863
Posterior Urethral Valve
Lethargy, Hypertension ORPHA:93110
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Atypical scarring of skin, Abnormal circulating calcium-phosphate regulating... ORPHA:534
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Holoprosencephaly 1
Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia OMIM:236100
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Hypomagnesemia 2, Renal
Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Hypertension OMIM:617913
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage, Fasting hypoglycemia ORPHA:25
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Kabuki Syndrome 2
Neonatal hypoglycemia, Pulmonic stenosis OMIM:300867
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased serum bile acid concentration, Hypokale... OMIM:619377
Glycine Encephalopathy
Lethargy, Hyperglycinemia ORPHA:407
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia, Thrombocytosis ORPHA:79500
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemia, Hyperammonemia, Mitral regurgitation, I... OMIM:220111
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Costello Syndrome
Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Lymphangiectasis, Achilles tendon contract... OMIM:218040
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Seizure, Cryptorchidism, Emotio... ORPHA:353281
Pineoblastoma
Pinealoma, Lethargy ORPHA:251909
Kufor-Rakeb Syndrome
Lethargy, Bradykinesia, Apathy ORPHA:306674
Juvenile Polyposis Syndrome
Anemia, Hematochezia, Hypokalemia, Hypoalbuminemia OMIM:174900
Proteus Syndrome
Thymus hyperplasia, Pulmonary embolism, Diabetes insipidus, Neoplasm of the thymus, Abnormal dent... ORPHA:744
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Proximal Renal Tubular Acidosis
Glycosuria, Enamel hypomineralization, Hypokalemia, Bicarbonaturia, Hypovolemia ORPHA:47159
Sotos Syndrome
Ankle flexion contracture, Umbilical hernia, Acute lymphoblastic leukemia, Cryptorchidism, Hip co... ORPHA:821
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Seizure, Corneal scarring, Cryp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Seizure, Corneal scarring, Cryp... ORPHA:353277
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Distal Renal Tubular Acidosis
Hypokalemia, Hemolytic anemia ORPHA:18
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Holt-Oram Syndrome
Abdominal situs inversus, Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy,... OMIM:142900
Vascular Ehlers-Danlos Syndrome
Cigarette-paper scars, Umbilical hernia, Transient ischemic attack, Cystocele, Inguinal hernia, C... ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mc2r

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mc2r.

No publications found that use IMPC mice or data for Mc2r.

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MGI Allele Allele Type Produced
Mc2rtm258929(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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