Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
circadian locomotor output cycles kaput
Synonyms:
KAT13D,  bHLHe8,  5330400M04Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Clock mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus, Abnormality of the pancreas OMIM:167755
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypog... ORPHA:453533
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hyperglycemia OMIM:608600
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Secondary amenorrhea, Androgen insufficiency, Oligomenorrhea, Hypogonadotropic hypogonadism, Decr... OMIM:228300
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resista... OMIM:615703
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Diabetes mellitus, Insulin resistance OMIM:615980
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertension, Type II diabetes mellitus, Polyphagia, Childhood-onset tr... ORPHA:71529
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolem... OMIM:610947
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hepatomegaly, Progressive psychomotor deterioration, Insulin resistance, Cognitive ... ORPHA:363400
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Hepatic steatos... OMIM:610717
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant d... ORPHA:280356
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Bradycardia, Hype... OMIM:619048
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Insulin resistance OMIM:606721
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Immunodeficiency 8
Hyperactivity OMIM:615401
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Fasting hypoglycemia, Neonatal hypoglycemia, Lethargy, Polyphagia, Palpitations, Hyperin... ORPHA:324575
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... ORPHA:181393
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating... ORPHA:90301
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Diabetes m... OMIM:612526
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... OMIM:617182
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia, Mental deterioration OMIM:615924
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Meningioma
Hypothalamic hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Tr... ORPHA:2495
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Cirrho... OMIM:604367
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... OMIM:262700
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... OMIM:615710
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessi... ORPHA:276556
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... OMIM:616516
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Maternal diabetes, Fasting hypoglycemia, Hypo... ORPHA:276580
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kina... OMIM:212138
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Gordon Holmes Syndrome
Dementia, Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism, Ataxia OMIM:212840
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Hypoglycemia, Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogon... ORPHA:226307
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Macrosomia Adiposa Congenita
Obesity, Large for gestational age OMIM:248100
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Citrullinemia Type Ii
Hyperlipidemia, Decreased body mass index, Irritability, Lethargy, Decreased HDL cholesterol conc... ORPHA:247585
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepati... ORPHA:79085
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia, Dementia, Memory impairment OMIM:604121
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Prolonged QT interval, Atrial fibrillation, Insulin resistance, Elevated... OMIM:613327
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Failure to thrive, Cardiomyopathy, Ketotic hypoglycemia, Elevated circulating acylcarni... ORPHA:26792
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Decreased circulating T4 level, Bradycardia, Elevated circulating th... ORPHA:95717
Lipoyltransferase 1 Deficiency
Dystonia, Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin, Decreased live... OMIM:616299
Summitt Syndrome
Obesity OMIM:272350
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Reduced lyso... OMIM:278000
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... OMIM:246200
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Insulin resistance, Fai... ORPHA:528
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Secondary amenorrhea, Decreased circulating free T4 level, Inappropriatel... OMIM:301033
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Atherosclerosis Susceptibility
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Gait disturbance, Mildly elevated creatine kinase, Hepatic steatosis OMIM:618400
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Fail... OMIM:212140
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus OMIM:609069
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circu... OMIM:619386
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... ORPHA:179494
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Familial Thyroid Dyshormonogenesis
Lethargy, Congenital hypothyroidism, Goiter, Neonatal hyperbilirubinemia, Umbilical hernia, Incre... ORPHA:95716
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid dro... OMIM:220111
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Dysphagia, Failure to thrive, Progressive neurologic deterioration, ... ORPHA:70472
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Hepatomegaly, Cachexia, Hypoglycemia, Elevated circulating creatine kinase... ORPHA:42
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Primary gonadal insufficiency ORPHA:436182
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Increased circulating T4 level, Fasting hypoglycemia, Decreased circulating free T3, Elevated cir... ORPHA:171706
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Gait disturbance, Ventricular escape rhythm, Increased LDL cholesterol co... ORPHA:98855
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Dysphagia, Dementia, Cardiomyopathy, Bradycardia, Hypogonadism, Diabetes mellit... OMIM:609286
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Body Mass Index Quantitative Trait Locus 19
Insulin resistance OMIM:617885
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... ORPHA:66628
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Primary Lipodystrophy
Type II diabetes mellitus, Insulin resistance, Polycystic ovaries, Pancreatitis, Splenomegaly, Ci... ORPHA:90970
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Fasting hypoglycemia, Typ... ORPHA:2298
Lipodystrophy, Familial Partial, Type 2
Hypertension, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... ORPHA:276608
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Gait disturbance, Hypertrophic cardiomyopathy, Ventricular escape rhythm,... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Gait disturbance, Hypertrophic cardiomyopathy, Ventricular escape rhythm,... ORPHA:98853
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... OMIM:605361
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Increased adipose tissue around the neck, Abnormal atrioventricular condu... ORPHA:280365
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia, Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis,... OMIM:615381
Low Phospholipid-Associated Cholelithiasis
Hypertension, Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstru... ORPHA:69663
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Gait disturbance, Ventricular escape rhythm, Increased LDL cholester... ORPHA:98863
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hyperammonemia, Fasting ... ORPHA:71212
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Obesity Due To Sim1 Deficiency
Polyphagia, Cognitive impairment, Glucose intolerance, Postural hypotension with compensatory tac... ORPHA:369873
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Failure to thrive, Atrioventricular block, Glucose intolerance, Impaired glucose tolera... OMIM:614407
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Dysphagia, Hepatomegaly, Diffuse hepatic steatosis, Irritability, Elevated hepatic tran... OMIM:264470
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Hyperlipidemia, Increased circulating cortisol level, Diabetes mellitus, Hyp... ORPHA:189439
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin ... ORPHA:2348
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Failure to thrive, Abnormal ci... ORPHA:90674
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Wolfram-Like Syndrome
Glucose intolerance, Male hypogonadism, Diabetes mellitus, Hypothyroidism, Central diabetes insip... ORPHA:411590
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... OMIM:167800
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia, Hyperalaninemia OMIM:614654
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... ORPHA:79237
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Morgagni-Stewart-Morel Syndrome
Hypertension, Suicidal ideation, Cognitive impairment, Abnormality of the endocrine system, Hyper... ORPHA:77296
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Dysphagia, Bradycardia OMIM:616276
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Elevated cir... ORPHA:264580
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... OMIM:262600
Hemochromatosis Type 2
Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Diabetes mellitus, Hyp... ORPHA:79230
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Nonketotic hypoglycemia, Polyphagia, Palp... ORPHA:97279
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... ORPHA:370
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatos... OMIM:618805
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Adrenal calcif... ORPHA:75234
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Hy... ORPHA:465508
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Narcolepsy Type 1
Obesity ORPHA:2073
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increas... ORPHA:369
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary... ORPHA:71526
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Attention deficit hyperactivity disorder, Difficulty wal... OMIM:619191
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Cog4-Cdg
Failure to thrive in infancy, Fatal liver failure in infancy, Hypercholesterolemia, Ataxia, Hepat... ORPHA:263501
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia, Pulmonic stenosis, Atr... OMIM:616201
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Bradycardia, Large for gestati... ORPHA:226313
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kin... OMIM:600649
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Abnormality of the th... OMIM:182290
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Umbilical hernia, Polyphagia, Tall stature, Insulin-resistant diabetes mellitus at ... OMIM:608594
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Hypertriglyceridemia OMIM:618010
Classic Galactosemia
Secondary amenorrhea, Gait disturbance, Dystonia, Oligomenorrhea, Hypoglycemia, Decreased serum i... ORPHA:79239
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas, Insulin-dependent but k... OMIM:608189
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations ORPHA:488650
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrho... ORPHA:79086
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Pulmonic stenosis, Decreased liver functi... OMIM:614300
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Bradycardia OMIM:617248
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Hepatomegaly, Decreased HDL cholesterol concentration, Chro... OMIM:203800
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hepatomegaly, Umbilical hernia, Polyphagia, Tall stature, Insulin-re... OMIM:269700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... OMIM:617156
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Increased circulating thyroglobulin level, C... ORPHA:90673
Polyembryoma
Increased serum testosterone level, Increased serum serotonin, Abnormality of the endocrine syste... ORPHA:180229
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis OMIM:617872
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... ORPHA:139507
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Neonatal insulin-dependent diabetes mellitus, R... ORPHA:99885
Pituicytoma
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... ORPHA:251623
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... ORPHA:556037
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis, C... OMIM:618234
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Dementia, Cognitive impairment, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbum... OMIM:208920
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... ORPHA:556030
Boucher-Neuhauser Syndrome
Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Decreased circulating gonadotropin concentration OMIM:215470
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Jaundice ORPHA:676
Combined Oxidative Phosphorylation Deficiency 15
Cognitive impairment, Ataxia, Unsteady gait, Obesity, Wolff-Parkinson-White syndrome OMIM:614947
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Familial Chylomicronemia Syndrome
Dementia, Hyperlipidemia, Failure to thrive, Memory impairment, Recurrent pancreatitis, Jaundice,... ORPHA:444490
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Hyperglycemia, ST segment depression, Cognitive impai... ORPHA:90065
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Primary amenor... OMIM:614841
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Waddling gai... ORPHA:369840
19P13.12 Microdeletion Syndrome
Mitral regurgitation, Hyperlipidemia, Self-injurious behavior, Aortic regurgitation, Arthrogrypos... ORPHA:254346
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Necrotizing Enterocolitis
Shock, Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal glucose home... ORPHA:391673
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 3
Narcolepsy OMIM:609039
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, EEG with generalized epileptiform discharges, Fasting hyperinsulin... ORPHA:35878
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Bradycardia, Decreased liver function, Elevated hepatic transa... OMIM:617397
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Pancreatitis, Hyp... OMIM:603471
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture OMIM:618815
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Orthostatic hypotension, Fai... OMIM:610600
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Reduced carnitine O-palm... ORPHA:228305
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transami... OMIM:256810
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-bas... ORPHA:248111
Short Syndrome
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia OMIM:269880
Wilson Disease
Hepatomegaly, Failure to thrive, Aggressive behavior, Hepatitis, Weight loss, Acute hepatitis, Sp... ORPHA:905
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, El... OMIM:201475
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase OMIM:617093
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... ORPHA:79240
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Impaired glucose tolerance, Primary amenorrhea OMIM:615363
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Gastrointestinal hemorrhage, Hepatosplenome... ORPHA:247598
Timothy Syndrome
Hypoglycemia, Prolonged QT interval, Bradycardia, Hypothyroidism, Hypocalcemia OMIM:601005
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... OMIM:603552
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche OMIM:145295
Narcolepsy 7
Narcolepsy OMIM:614250
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Failure to thrive, Depletion of mitochondria... OMIM:251880
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Small for gestational age, Elevated hepatic transaminase, Insuli... ORPHA:2959
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Acth Deficiency, Isolated
Fasting hypoglycemia, Decreased circulating cortisol level, Adrenal hypoplasia, Cholestasis, Adre... OMIM:201400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture, Inguinal hernia OMIM:614498
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Precocious puberty ORPHA:254531
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated hepatic transaminase, Failure to th... ORPHA:99901
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Intrahepatic cholestasis, Decreased serum insulin-like grow... OMIM:614921
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia OMIM:608612
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly ORPHA:75563
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Hepatosplenomegaly, Hyperspleni... ORPHA:275761
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypot... OMIM:619013
Neuroleptic Malignant Syndrome
Hypernatremia, Pulmonary embolism, Elevated circulating alkaline phosphatase concentration, Anxie... ORPHA:94093
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Pediatric-Onset Graves Disease
Increased circulating T4 level, Goiter, Splenomegaly, Sinus tachycardia, Irritability, Graves dis... ORPHA:525731
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Infertility, Hypoglycemia, Amenorrhea, Hypogonadotropic hypogonadism, P... ORPHA:95619
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:769
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Delayed... ORPHA:633
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Hepatic f... ORPHA:156
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia, Mitral regurgitation,... ORPHA:746
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... OMIM:300635
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Hyperalaninemia, Elevated gamma-glu... OMIM:614582
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hyponatremia, Hyperlipidemia, Polyphagia, Narcolepsy, Premature adrenarch... ORPHA:293987
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia, Neonatal hypoglycemia, Loss of ability to walk, Tip-toe gait, Abnormal enzyme/coenzy... ORPHA:565624
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Hypoglycemic seizures, Hyperbilirubinemia, Gonadotropin defici... OMIM:609734
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Sheehan Syndrome
Hyponatremia, Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decr... ORPHA:91355
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Ataxia, Hypertriglyceridemia, Hypothyroidism, ... OMIM:617575
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Aggressive behavior, Inability to walk, Male hypogonadis... OMIM:300148
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Diabetes mellitus, Type I diabetes mellitus OMIM:557000
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Cardiomyopathy, Hepatic steatosis, Waddling g... ORPHA:52430
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Smith-Magenis Syndrome
Gait disturbance, Failure to thrive in infancy, Self-injurious behavior, Obesity, Hypercholestero... ORPHA:819
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... ORPHA:567983
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Steppage gait, Aggressive behavior, EEG with generalized epilepti... ORPHA:98818
Isolated Sedoheptulokinase Deficiency
Hepatitis, Cholestatic liver disease, Cholestasis, Portal hypertension, Postprandial hyperglycemia ORPHA:440713
Graves Disease, Susceptibility To, 1
Polyphagia, Goiter, Weight loss, Hyperactivity, Irritability, Congestive heart failure, Graves di... OMIM:275000
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Placental Insufficiency
Insulin resistance ORPHA:439167
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... OMIM:618620
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterolemia, Elevated hep... OMIM:212065
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... ORPHA:158057
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... ORPHA:45452
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... OMIM:301045
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
X-Linked Adrenoleukodystrophy
Gait disturbance, Adrenal insufficiency, Dementia, Aggressive behavior, Cognitive impairment, Hyp... ORPHA:43
Glutamine Deficiency, Congenital
Bradycardia, Hyperammonemia, Flexion contracture, Camptodactyly, Hypoglutaminemia OMIM:610015
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Aicardi-Goutieres Syndrome 9
Dystonia, Hypertension, Hepatomegaly, Pericarditis, Hepatic fibrosis, Failure to thrive, Weight l... OMIM:619487
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Ataxia, Narcolepsy, Memory impairment ORPHA:314404
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Hepatomegaly, Failure to thrive, Bradykinesia, Macrovesicular hepatic steatosis, Choles... OMIM:614924
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Tachycardia, Hyper... ORPHA:348
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... OMIM:232400
Ddost-Cdg
Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic tra... ORPHA:300536
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Hypoglycemia, Insulin resistance ORPHA:73272
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertension, Aortic regurgitatio... ORPHA:401923
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls ORPHA:2382
Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... ORPHA:96184
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Increased serum testosterone level, Delayed puberty, Male ... ORPHA:99429
African Trypanosomiasis
Abnormal prolactin level, Myocarditis, Third degree atrioventricular block, Abnormality of renin-... ORPHA:3385
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Failure to thrive, Increased total bilirubin, Spleno... OMIM:603553
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Tetanus
Hypertension, Dysphagia, Elevated circulating creatine kinase concentration, Bradycardia, Tachyca... ORPHA:3299
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Abcd Syndrome
Large for gestational age OMIM:600501
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Ant... OMIM:608836
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Hyperglycinemia, Hyperammonemia, Increased... ORPHA:470
Niemann-Pick Disease Type C
Apathy, Progressive gait ataxia, Progressive neurologic deterioration, Splenomegaly, Hepatospleno... ORPHA:646
Beta-Ketothiolase Deficiency
Hyperglycemia, Hepatomegaly, Hypoglycemia ORPHA:134
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Cardiom... ORPHA:98907
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Low pulse pressure, Lipodystrophy, Hy... ORPHA:86816
Gaisböck Syndrome
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Obesity, Hyperuricemia, Hyperc... ORPHA:90041
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Hyperhidros... ORPHA:813
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia, EEG abnormality OMIM:239500
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Porphyria Cutanea Tarda
Increased serum iron, Scarring, Elevated hepatic iron concentration, Portal inflammation, Corneal... ORPHA:101330
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia OMIM:248370
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Hepatomegaly, Prolonged QT interval, Hypoketotic hypogly... ORPHA:26793
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Cognitive impairment, Hypoplasia of the ovary, Increased ci... OMIM:615300
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Dementia, Cachexia, Hypogonadotropic hypogonadism, Weight loss, Hyperalaninemia, Cirrh... ORPHA:298
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... OMIM:201450
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Phenylketonuria
Maternal hyperphenylalaninemia, Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Hype... OMIM:261600
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Aggressive behavior, Hyperactivity, Anxiety, Gait a... OMIM:609425
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypertension, Hepatocellular ad... ORPHA:79259
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Infertility, Skin-picking, Self-injurious ... ORPHA:98754
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Glycine Encephalopathy
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Lethargy OMIM:605899
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Increased circulating ferritin c... ORPHA:158061
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... ORPHA:439232
Glossopharyngeal Neuralgia
Syncope, Weight loss, Bradycardia, Oral-pharyngeal dysphagia, Anxiety, Jaw claudication ORPHA:221098
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Tricuspid regur... OMIM:300972
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Infertility, Skin-picking, Self-injurious ... ORPHA:98793
Rasmussen Subacute Encephalitis
Increased theta frequency activity in EEG, Hemidystonia, EEG with focal epileptiform discharges, ... ORPHA:1929
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly OMIM:613101
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior, Failure to thrive OMIM:618362
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Infertility, Skin-picking, Self-injurious ... ORPHA:177904
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Halothane Hepatitis
Obesity OMIM:234350
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Prolonged QT interval, Noncompaction ca... OMIM:610198
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... OMIM:615830
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Broad-b... OMIM:614450
Lujo Hemorrhagic Fever
Myocarditis, Shock, Dysphagia, Subconjunctival hemorrhage, Fulminant hepatitis, Bradycardia, Ment... ORPHA:319213
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Neutral Lipid Storage Myopathy
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Cholecystitis, Car... ORPHA:98908
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Infertility, Skin-picking, Self-injurious ... ORPHA:177901
Atrial Standstill 2
Atrial standstill, Scarring, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Ab... OMIM:615745
Premature Ovarian Failure 18
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... OMIM:619203
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610489
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Aggressive behavior, Hyperinsulinemia, Polyphagia ORPHA:329249
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Tachycardia, Bradycardia, Splenomegaly, Decreased liver ... ORPHA:90051
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Dysphagia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercho... ORPHA:64753
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... ORPHA:228308
Proximal Spinal Muscular Atrophy
Dysphagia, Bradycardia, Knee flexion contracture, Inability to walk, Flexion contracture, Multipl... ORPHA:70
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration OMIM:614025
Abetalipoproteinemia
Hypotriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hepatic fibrosis, Dysm... ORPHA:14
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Reduced dihydropyrimidine dehydrogenase level, Lethargy OMIM:274270
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Failure to th... ORPHA:79322
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, H... ORPHA:91
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Cardiac conduction abnormality, Diabetes mellitus, Oral-pharyngeal dyspha... ORPHA:273
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Adiposis Dolorosa
Obesity OMIM:103200
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin, Elevated hepatic transaminase, Increased body weight, Ja... ORPHA:890
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Infertility, Skin-picking, Self-injurious ... ORPHA:398073
Whipple Disease
Hepatomegaly, Splenomegaly, Hypothyroidism, Insulin resistance ORPHA:3452
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Pulmonary arterial hypertension, Decreased serum iron, Overweight, Diabetes me... ORPHA:391372
Rett Syndrome
Dystonia, Gait disturbance, Failure to thrive, Bradykinesia, Hyperammonemia, Increased serum lept... ORPHA:778
Mitochondrial Complex I Deficiency, Nuclear Type 37
Failure to thrive, Pulmonary arterial hypertension, Bradycardia, Inguinal hernia OMIM:619272
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Acholic stools, Biliary tract abnormality, Splenomegaly, Jaundice, ... ORPHA:1414
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Lipodystrophy, Panniculitis, Splenomegaly, Hypertriglyceridemia,... OMIM:617591
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hepatic fibrosis, Insulin resistance, Hypogonadism, Nephrogenic diabete... OMIM:209900
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Hepatomegaly, Lipid accumulation in hepatocytes, Weight loss, Apathy, Hyp... ORPHA:20
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Disproportionate tall stature, Hyperhomocystinemia, Tall stature, Failure to thrive, Pancreatitis... OMIM:236200
Monosomy 13Q34
Hepatic steatosis, Insulin resistance ORPHA:96168
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Infertility, Premature adrenarche, Decreas... ORPHA:739
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Hypoketotic hypog... OMIM:231530
Pearson Syndrome
Adrenal insufficiency, Cardiac conduction abnormality, Hypophosphatemia, Splenomegaly, Steatorrhe... ORPHA:699
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Elevated circulating creatine kinase concentration, Palpitations, Atr... OMIM:616812
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Abnormal circulating lipid concentration, Inguinal hernia, Obesity, Bi... ORPHA:3191
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Macro... OMIM:619418
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Diabetes mellitus, Hypothyroidism, Insulin resistance OMIM:616541
Short Syndrome
Diabetes mellitus, Insulin resistance ORPHA:3163
Marburg Hemorrhagic Fever
Hypoglycemia, Hyperammonemia, Capillary leak, Jaundice, Hyperamylasemia, Lethargy, Pericarditis, ... ORPHA:99826
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Dend Syndrome
Hyperglycemia ORPHA:79134
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Absent gallbladder, Patent ductus arteriosus, B... OMIM:600001
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Small for gestational age, Elevated circulating creatine kinase conc... OMIM:618775
Cln5 Disease
Dysmetria, Aggressive behavior, EEG with generalized slow activity, Multifocal epileptiform disch... ORPHA:228360
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Prolactinoma