Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
C2 calcium-dependent domain containing 5
Synonyms:
C030008B15Rik,  CDP138,  5730419I09Rik

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 C2cd5 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 C2cd5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertension, Hypertriglyceridemia, ... OMIM:615703
Multiple Symmetric Lipomatosis
Insulin resistance, Gait disturbance, Hepatomegaly, Abnormal adipose tissue morphology, Multiple ... ORPHA:2398
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, A... OMIM:615980
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Orthosta... OMIM:606721
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hypertension, Hepatic fibrosis, Hypertriglyceri... ORPHA:280356
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes ... ORPHA:71529
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tiss... ORPHA:363400
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Hypertension, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hypertension, Hepatomegaly,... ORPHA:79084
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ... OMIM:604367
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis, Hepatomegaly, Hypertriglyce... OMIM:610717
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Proportionate tall stature, Insulin resistance... ORPHA:528
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystrophy, Flexion cont... OMIM:615381
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hyperuricemia, ... ORPHA:79083
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Hepatomegaly, Hype... ORPHA:2348
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive, Elevated circulat... ORPHA:26792
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, He... ORPHA:435651
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabete... ORPHA:436182
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal cardio... ORPHA:79086
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Angina pectoris, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Hy... ORPHA:90970
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insuli... ORPHA:2457
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hyperglycinemia, Hepatic steatosis, Elevated circulating alanine aminotransferase conce... OMIM:619386
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Increased facial adipose tissue, Insulin resistance, Increased adipose ti... ORPHA:280365
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Failure to thrive, ... OMIM:617872
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipodystr... OMIM:613327
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemic hypoglycemia, Small for gestational age, Syncope, Maternal diabetes, Episodic hy... ORPHA:324575
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Hyperbilirubinemia, Decreased response to growth hormo... OMIM:609734
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Lethargy, Elevated hepatic transaminase, Hepatic stea... OMIM:212140
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Familial Thyroid Dyshormonogenesis
Lethargy, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 level, Elevated c... ORPHA:95716
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Idiopathic Congenital Hypothyroidism
Lethargy, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concen... ORPHA:95717
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr... OMIM:615238
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function, Hyperalaninemia, Failure t... OMIM:618329
Mehmo Syndrome
Inability to walk, Gait ataxia, Male hypogonadism, Difficulty walking, Decreased response to grow... OMIM:300148
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Flexion contracture, Hype... OMIM:616222
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Lethargy, Hyperinsulinemic hypoglycemi... ORPHA:276575
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Arrhythmia, Elevated hepatic transaminase, Decreased plasma total carnitine, Hepatic st... ORPHA:42
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertension, Sudden cardi... OMIM:610947
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Overweight, Jaundice, Small for gestational age, Elevated circulating creatine kina... ORPHA:26793
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Lethargy, Hyperinsulinemic hyp... ORPHA:71212
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperglycinemia, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Hyper... OMIM:245400
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Lethargy, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficiency, S... OMIM:307030
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Postural hypotension with compensatory tachycardia, Hypote... ORPHA:369873
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Diffuse pancreatic ... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Neonatal hyperbilirubinemia, Small for gestati... ORPHA:73272
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypersplenism, Pulmonary arterial hypertension, Cirrhosis, Increased hepati... OMIM:278000
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Lethargy, Arrhythmia, Elevated hepatic transami... ORPHA:159
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Goiter, Increased pituitary glycoprotein hormone alpha subunit le... ORPHA:90674
Alstrom Syndrome
Elevated hepatic transaminase, Hyperinsulinemia, Chronic active hepatitis, Hypergonadotropic hypo... OMIM:203800
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Gait disturbance, Elevated hepatic transaminase, Mildly elevated creatine kinase OMIM:618400
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:66628
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:179494
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder, Recurrent fever OMIM:300310
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Arrhythmia, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis,... OMIM:255120
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypo... ORPHA:276608
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Obesity ORPHA:254531
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue, Hyperlipidemia ORPHA:199276
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Abnormal circulating lipid concentration, Biliary tract abnormality, Inguinal hernia,... ORPHA:3191
Laurence-Moon Syndrome
Ataxia, Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Flexion contracture, Central adrenal insufficiency, Adrenal insufficiency, Delayed puberty, Reduc... OMIM:612079
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Narcolepsy Type 1
Obesity, Syncope ORPHA:2073
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Decreased response to growth hormone stimuation test, Abdominal obesity OMIM:618160
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Angina pectoris, Hepatic steatosis, Hypothyroidism, Acute panc... ORPHA:412
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intra... OMIM:608594
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Lethargy, Increased radioactive iodine uptake, Decreased circulating ... ORPHA:90673
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Lethargy, Hypoglycemia OMIM:610006
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:615395
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Insulin resistance, Hypothyroidism, Gait disturbance, Abnormal circulating li... OMIM:616541
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intra... OMIM:269700
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Primary hypothyroidism, Failure ... ORPHA:300536
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Dystonia, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicu... OMIM:256810
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Insulin resistance, Hypotension, Hypothyroidism, Hypon... ORPHA:3452
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Ataxia, Obesity, Waddling gait, Broad-based gait OMIM:616756
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Lethargy, Elevated hepatic transaminase, Hypotension, Nonketotic hypoglycemia, Hy... ORPHA:20
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Gait disturbance, Lipodystrophy, Toe walking, Ventricular escape rhy... ORPHA:98855
Temple Syndrome
Decreased response to growth hormone stimuation test, Small for gestational age, Type II diabetes... ORPHA:254516
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypoglyc... ORPHA:99901
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Malignant hyperthermia, Hepatic steatosis, Intrahepatic cholestasi... OMIM:614921
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Elevated hepatic transaminase, Supraventricular arrhythmia, Hype... ORPHA:2959
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Congestive heart failure, Failure to thrive, Hype... OMIM:618234
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Tall stature, Type II diab... ORPHA:91
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Umbilical hernia, Thyroid dysgenesis, Jaundice, Hypothermia ORPHA:226292
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Unsteady gait, Ataxia, Obesity OMIM:614947
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Gait disturbance, Lipodystrophy, Toe walking, Ventricular escape rhy... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Gait disturbance, Lipodystrophy, Toe walking, Ventricular escape rhy... ORPHA:98853
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute pancreatitis, Jaundice, H... ORPHA:444490
Laron Syndrome
Hypercholesterolemia, Hypohidrosis, Hypoglycemia, Truncal obesity, Delayed puberty, Abnormality o... ORPHA:633
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Lethargy, Hypoproteinemia, Elevated hepatic tran... ORPHA:247585
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertension, Hypertriglyceridemia, Myocardial infarction, Type II diabe... OMIM:618620
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsuli... ORPHA:263455
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Decreased circulating dehydroepiandrosterone concentration, Impaired corti... ORPHA:361
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Truncal obesity, Small for gestationa... ORPHA:96184
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Hypertension, Dorsocervical fat p... OMIM:615830
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Gait disturbance, Lipodystrophy, Toe walking, Ventricular escape rhy... ORPHA:98863
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Genetic Transient Congenital Hypothyroidism
Lethargy, Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result,... ORPHA:226316
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:617093
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Flexion contracture, Pancreatic fibrosis, Steatorrhea, Hepatic... OMIM:616263
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Spontaneous Periodic Hypothermia
Arrhythmia, Gait disturbance, Ataxia, Hyperhidrosis, Hypothermia ORPHA:29822
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Rafiq Syndrome
Obesity OMIM:614202
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Orthostatic hypotension, Insulin resistance, Increased blood urea nitrogen, Ele... ORPHA:230
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decreased response to growth hormone st... OMIM:614963
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Lethargy, Hepatocellular necrosis, Hepatic... OMIM:201475
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Hypohidrosis, Elevated hepatic transaminase, Abnormality of the hypothal... ORPHA:293987
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Congenital hypothyroidism, Diabetes mellitus, Hyperactivity OMIM:614613
48,Xxyy Syndrome
Abnormal dental enamel morphology, Hypergonadotropic hypogonadism, Ataxia, Tall stature, Inguinal... ORPHA:10
Insulinoma
Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia... ORPHA:97279
19P13.12 Microdeletion Syndrome
Arrhythmia, Arthrogryposis multiplex congenita, Aortic regurgitation, Hepatic steatosis, Hypothyr... ORPHA:254346
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency, Generalized dystonia OMIM:619025
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hypopituitarism, Hypertriglycer... OMIM:619013
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm, Dystonia, Adrenal insufficiency, Failure to thrive OMIM:618238
Werner Syndrome
Slender build, Chondrocalcinosis, Insulin resistance, Lipodystrophy, Lipoatrophy, Hypertension, T... ORPHA:902
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Primary hyperaldosteronism, Abnormal T-wave, Delayed puberty, Type... ORPHA:358
Cushing Disease
Lethargy, Lipodystrophy, Hypertension, Telangiectasia of the skin, Truncal obesity, Hypokalemia, ... ORPHA:96253
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Truncal ataxia, Elevated hepatic transaminase... ORPHA:369840
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypogly... OMIM:261680
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Elevated hepatic transaminase, Neonatal hypoglycemia, Hypotension, Hepatic steatosis, V... OMIM:212138
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Abnormal subcut... OMIM:212065
Mental Retardation With Language Impairment And With Or Without Autistic Features
Obesity, Attention deficit hyperactivity disorder, Failure to thrive in infancy OMIM:613670
Dominant Beta-Thalassemia
Cirrhosis, Arrhythmia, Abnormality of iron homeostasis, Hypothyroidism, Hepatocellular carcinoma,... ORPHA:231226
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Ataxia, Hypoglycemia, ... OMIM:220111
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Decreased plasma total carnitine, Elevated hepatic transaminase, Hypoketotic hypoglyc... ORPHA:228305
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatos... OMIM:600649
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hep... OMIM:615630
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Dystonia, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Nephrotic Syndrome, Type 14
Hypothyroidism, Ataxia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceridemia, Hypoalbuminemi... OMIM:617575
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Lethargy, Arrhythmia, Hypoketotic hypoglycemia, Chronic hepatic failure, Toe walkin... ORPHA:746
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypogonadism, Eunuchoid habitus, Obe... ORPHA:2234
Monosomy 13Q34
Hematochezia, Insulin resistance, Hepatic steatosis, Epistaxis, Pulmonic stenosis, Infantile hype... ORPHA:96168
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity OMIM:610628
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Fever, Obesity OMIM:234350
Congenital Hypothyroidism
Arrhythmia, Goiter, Hypotension, Hypothyroidism, Umbilical hernia, Hypertension, Prolonged neonat... ORPHA:442
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Truncal obesity, Failure to thrive ORPHA:261483
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Hypertension, Truncal obesity, Failure to thrive, Diabetes mell... ORPHA:189427
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Lipoma, Obesity ORPHA:480907
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Failure to thrive in infancy, Hyperhidrosis, Cachexia, ... ORPHA:813
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Placental Insufficiency
Hypoxemia, Small for gestational age, Insulin resistance ORPHA:439167
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency OMIM:103230
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Palpitations, Abnorma... ORPHA:1501
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Beta-Thalassemia Major
Cirrhosis, Arrhythmia, Abnormality of iron homeostasis, Hypothyroidism, Hepatocellular carcinoma,... ORPHA:231214
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Malignant hyperthermia, Congenital hypothyroidism, Obesity ORPHA:352530
Sheehan Syndrome
Palpitations, Gonadotropin deficiency, Panhypopituitarism, Adrenocorticotropin deficient adrenal ... ORPHA:91355
Late-Onset Isolated Acth Deficiency
Low-grade fever, Lethargy, Adrenocorticotropin deficient adrenal insufficiency, Decreased circula... ORPHA:199299
Wolman Disease
Steatorrhea, Hepatomegaly, Adrenal insufficiency, Cachexia, Hepatic failure, Splenomegaly, Fever,... ORPHA:75233
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Weight loss, Elevated transferrin saturation, Cardi... ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Truncal obesity, Hip contracture, Obesity OMIM:618363
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Macrovesicular hepatic steatosis, Bradykinesia, Cholestasis, Hepatomegaly, Failure to t... OMIM:614924
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis,... ORPHA:905
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Obesity OMIM:301900
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Hypothyroidism, Hepatocellular carcinoma, Cholelithia... ORPHA:231222
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Cholesta... OMIM:246200
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Lipodystrophy, Decreased body weight, Truncal obesi... OMIM:270450
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Unsteady gait, Ataxia, Obesity OMIM:618443
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hypoglyce... OMIM:201450
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Elevated hepatic transaminase, Hepatic steatosis, Flexion contracture, Hypoglycemia, He... ORPHA:17
Alexander Disease
Hypotension, Hypothyroidism, Gait disturbance, Ataxia, Hypertension, Sudden cardiac death, Hypoth... ORPHA:58
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Puberty and gonadal disorders, Difficulty walking, Ataxia, Unsteady gait, Waddling gait... ORPHA:464282
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Lipodystr... OMIM:248370
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Obesity, Cardiogenic shock, Reduce... ORPHA:563
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Unsteady gait, Hip contracture, Abnormality of temperature regulation, Hypothe... OMIM:618493
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Obesity OMIM:248100
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Dilated cardiomyopathy, Subdural hemorrhage, Ataxia, Hypoglycemia, Jaundice, Pulmonary ... ORPHA:79282
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congenital hypothyro... OMIM:614450
Pearson Syndrome
Hypocalcemia, Cardiac conduction abnormality, Pancreatic fibrosis, Small for gestational age, Hyp... ORPHA:699
Hypoadrenocorticism, Familial
Adrenal hypoplasia, Hyponatremia, Hypoglycemia, Adrenal insufficiency, Cyanosis, Hyperkalemia OMIM:240200
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Antenatal intracerebral hemorrhage, Lethargy, Arrhythmia, Elevated hep... OMIM:608836
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenal hypoplasia, Neonatal hypoglycemia, Adrenocorticotropin deficient a... ORPHA:199296
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Pancreatitis, Obesity OMIM:616394
Adrenal Hypoplasia, Congenital
Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal insufficiency, Hyponatr... OMIM:300200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Male hypogonadism, Decreased circulating parathyroid hormone level, Chronic ac... OMIM:240300
Primary Erythromelalgia
Vasculitis, Hypothermia ORPHA:90026
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Failure to t... OMIM:264350
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hepatic steatosis, Hepat... OMIM:231530
Summitt Syndrome
Obesity OMIM:272350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Obesity ORPHA:88643
Flynn-Aird Syndrome
Primary adrenal insufficiency, Ataxia, Abnormality of the thyroid gland, Cachexia, Type II diabet... ORPHA:2047
Abetalipoproteinemia
Hypoalbuminemia, Abnormal circulating apolipoprotein concentration, Cirrhosis, Ataxia, Hypocholes... ORPHA:14
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Congenital Enterovirus Infection
Hypotension, Cardiomyopathy, Cholestasis, Hepatitis, Hypoalbuminemia, Hepatic failure, Myocarditi... ORPHA:292
Menkes Disease
Intracranial hemorrhage, Hypothermia OMIM:309400
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Delayed puberty, Obesity ORPHA:141333
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Decreased plasma total carnitine, Hypoketotic hypoglycemia, Hepatic steatosis, Decrea... ORPHA:228308
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Disproportionate tall stature, Hypermethioninemia, Tall stature, Myocardial in... OMIM:236200
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin leve... OMIM:177735
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Hypoglycemia, Acute hyperammonemia, Failure to thrive, Acute hepatic steatosis OMIM:210200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Fatigable weakness of swallowing muscles, Gait disturbance, Ataxia, Glycosuria, Hepatomegaly, Dec... ORPHA:436271
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, H... ORPHA:2088
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Hypertrophic cardiomyopathy OMIM:615418
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Obesity OMIM:618124
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Decreased serum ... ORPHA:541423
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre... ORPHA:98908
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Xanthelasma, Hypercholesterolemia, Hypothyroidism, Hepatocellular adenoma,... ORPHA:79259
Clark-Baraitser Syndrome
Obesity, Hyperactivity OMIM:617752
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycos... ORPHA:2089
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Hypertension, Increased circu... OMIM:219090
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Yellow Fever
Lethargy, Arrhythmia, Gastrointestinal hemorrhage, Malignant hyperthermia, Hypotension, Acute hep... ORPHA:99829
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Schaaf-Yang Syndrome
Inability to walk, Arthrogryposis multiplex congenita, Camptodactyly, Flexion contracture, Failur... OMIM:615547
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Hyponatremia, Increased ci... ORPHA:556037
Meningococcal Meningitis
Lethargy, Hypotension, Elevated circulating C-reactive protein concentration, Shock, Hypothermia,... ORPHA:33475
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Ataxia, Biliary tract abnormality, Hepatic fibrosis, Hypertension... OMIM:209900
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Hypogonadotropic hypogonadism, Premature pubarche, Premature adrenarche, Central hypoth... ORPHA:398079
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Reduced subcutaneous adipose tissue, Right bundle branch block, Insulin ... OMIM:619322
48,Xxxy Syndrome
Abnormal dental enamel morphology, Tall stature, Pulmonary embolism, Inguinal hernia, Type II dia... ORPHA:96263
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Obesity OMIM:617991
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Poems Syndrome
Acrocyanosis, Primary adrenal insufficiency, Hypothyroidism, Lipodystrophy, Weight loss, Increase... ORPHA:2905
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Mitochondrial Dna-Associated Leigh Syndrome
Low plasma citrulline, Dystonia, Gait ataxia, Cardiac conduction abnormality, Ataxia, Hepatomegal... ORPHA:255210
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hy... ORPHA:348
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Unsteady gait, Truncal obesity, Flexion contracture of digit, Dysmetria, Reduced subcutaneous adi... ORPHA:3041
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Orthostatic hypotension, Hypovolemia, Hypotension, De... ORPHA:95409
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Small for gestational age, Abdominal obesity, Diabetes m... ORPHA:125
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche OMIM:145295
Addison Disease
Hyperuricemia, Weight loss, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone lev... ORPHA:85138
Baralle-Macken Syndrome
Inability to walk, Dystonia, Obesity OMIM:619255
Short Syndrome
Glucose intolerance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circul... OMIM:612462
Dilated Cardiomyopathy With Ataxia
Dystonia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Neonatal hypoglycemia,... ORPHA:66634
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Gait disturbance, Arrhythmia, Truncal obesity ORPHA:2928
Nephronophthisis 15
Hepatic failure, Obesity OMIM:614845
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Hypothyroidism, Abnormal circulating lipid concentration, Central adrenal insu... ORPHA:488632
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency ORPHA:977
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Hypertroph... OMIM:616501
Adrenomyodystrophy
Hepatic steatosis, Pituitary corticotropic cell adenoma, Primary adrenal insufficiency OMIM:300270
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Ataxia, Hyperactivity ORPHA:411515
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperlipidemia, Insulin resistance ORPHA:90153
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Macrovesicular hepatic ... ORPHA:298
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Cardiac conduction abnormality, Falls, Insulin resistanc... ORPHA:273
Atypical Werner Syndrome
Delayed puberty, Type II diabetes mellitus, Generalized lipodystrophy, Telangiectasia of the skin... ORPHA:79474
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:98754
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphos... OMIM:603233
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Congestive heart failure, Waddling gait, Elevated circulating creatine kinase ... ORPHA:52430
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Congestive heart failure, Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Small for gestational age, Elevated circulating creatine kinase concentration, Hy... OMIM:618775
Trisomy 5P
Obesity ORPHA:1742
Neuroleptic Malignant Syndrome
Hyperkalemia, Hypocalcemia, Arrhythmia, Elevated hepatic transaminase, Hypotension, Hypernatremia... ORPHA:94093
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Adrenocorticotropic hormone excess, Failure to thrive, Splen... OMIM:609981
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Tip-toe gait, Ataxia, Obesity OMIM:604360
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:98793
Smith-Magenis Syndrome
Hypercholesterolemia, Hypothyroidism, Gait disturbance, Failure to thrive in infancy, Hypertrigly... ORPHA:819
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Obesity ORPHA:2183
Prader-Willi Syndrome
Temperature instability, Hyperinsulinemia, Decreased response to growth hormone stimuation test, ... OMIM:176270
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:177904
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circul... OMIM:103580
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Small for gestational age, Hyperh... ORPHA:96182
Autoimmune Polyendocrinopathy Type 2
Graves disease, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thyroid ... ORPHA:3143
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Gait disturbance ORPHA:2429
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypothyroidism, Cardiomy... ORPHA:445038
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:177901
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Small for gestational... OMIM:210740
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating glutaric acid concentration, Hypoglycemia, Glycosuria, He... OMIM:231680
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Increased circ... OMIM:610600
Thyrotoxic Periodic Paralysis
Palpitations, Thyrotoxicosis with toxic multinodular goiter, Graves disease, Hypomagnesemia, Post... ORPHA:79102
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Down Syndrome
Hypothyroidism, Gait disturbance, Umbilical hernia, Type II diabetes mellitus, Obesity ORPHA:870
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Reduced subcutaneous adipose tissue, Hype... OMIM:609069
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia, Cardiac arrest, Arrhythmia ORPHA:168593
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Familial Hypoaldosteronism
Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating ... ORPHA:427
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Neo... ORPHA:289548
Magel2-Related Prader-Willi-Like Syndrome
Temperature instability, Abdominal obesity, Lethargy, Premature pubarche, Flexion contracture, Ce... ORPHA:398069
Prader-Willi-Like Syndrome
Abnormality of the endocrine system, Premature pubarche, Premature adrenarche, Decreased circulat... ORPHA:398073
X-Linked Adrenoleukodystrophy
Gait disturbance, Increased circulating ACTH level, Adrenal insufficiency, Abnormality of adrenal... ORPHA:43
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Craniopharyngioma
Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insufficiency, Hypopituitaris... ORPHA:54595
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Ataxi... OMIM:124000
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Small for g... OMIM:300869
Cimdag Syndrome
Dystonia, Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Ataxia, Hepatomegaly, ... OMIM:619273
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Menkes Disease
Gastrointestinal hemorrhage, Chondrocalcinosis, Intracranial hemorrhage, Atypical scarring of ski... ORPHA:565
Bardet-Biedl Syndrome 21
Overweight, Elevated hepatic transaminase, Obesity OMIM:617406
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity, Hyperactivity ORPHA:397973
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Truncal obesity OMIM:268050
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Neo... ORPHA:168558
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Lethargy, Goiter, Hypothyroidism, Hyperbilirubinemia, Elevated circulating thyr... OMIM:218700
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Microvesicular hepatic steatosis, Weight loss, Jaundice, Decre... ORPHA:275761
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Stea... OMIM:269200
Senior-Loken Syndrome 9
Hepatic fibrosis, Hypogonadism, Obesity, Cholestasis OMIM:616629
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Lethargy, Elevated hepatic transaminase, Gastrointestinal hemorrhage... OMIM:229600
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Hyponatremia, Increased ci... ORPHA:556030
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Congestive heart f... OMIM:611126
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Dysdiadochokinesis, Gait ataxia, Orthostatic hypotension, Decreased swea... ORPHA:99027
8P23.1 Duplication Syndrome
Pulmonic stenosis, Adrenal insufficiency ORPHA:251076
Hutchinson-Gilford Progeria Syndrome
Intracranial hemorrhage, Weight loss, Pulmonary arterial hypertension, Transient ischemic attack,... ORPHA:740
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Ataxia, Obesity ORPHA:459033
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Type I diabetes mellitus, Small for gestational age, Hyperglycemia OMIM:618857
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity ORPHA:444002
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
6Q16 Microdeletion Syndrome
Obesity, Broad-based gait ORPHA:171829
Orthostatic Hypotension 1
Intermittent hypothermia, Neonatal hypoglycemia, Orthostatic hypotension OMIM:223360
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:618858
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Delayed puberty, Abdominal obesity, Hyperactivity, Hypogonadism OMIM:300354
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Prader-Willi Syndrome
Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituitary gland, Hyperten... ORPHA:739
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Spider hemangioma, Elevated hepatic transa... ORPHA:2137
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Micronodular cirrhosis, Dystonia, Microvesicular hepatic steatosis, Elevated h... ORPHA:404454
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Delayed puberty, Type... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Delayed puberty, Type... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Delayed puberty, Type... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Thyroiditis, Failure to thrive in infancy, Delayed puberty, Type... ORPHA:99226
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Gait disturbance, Unsteady gait, Dysmetria, Obesity ORPHA:93952
Short Stature-Obesity Syndrome
Obesity OMIM:269870
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimuation test, Hernia, Small for gestational age, Failure ... ORPHA:94065
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:606176
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Sudden cardiac death, Congestive ... OMIM:610198
Crimean-Congo Hemorrhagic Fever
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hepatic steatosis, Epistaxis, Jaundic... ORPHA:99827
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Abnormality of the endocrine system, Obesity ORPHA:464288
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Flexion contracture of toe, Obesity ORPHA:3409
Mirage Syndrome
Intracranial hemorrhage, Hypergonadotropic hypogonadism, Hyponatremia, Decreased body weight, Hyp... OMIM:617053
Kearns-Sayre Syndrome
Arrhythmia, Primary adrenal insufficiency, Ataxia, Third degree atrioventricular block, Diabetes ... OMIM:530000
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Decreased circulating cortisol level, G... ORPHA:139396
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Ataxia, Hypertension, Congestive heart failure, T... ORPHA:31826
Mental Retardation, Autosomal Recessive 13
Truncal obesity, Hyperactivity OMIM:613192
13Q12.3 Microdeletion Syndrome
Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Obesity ORPHA:412035
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Decrea... OMIM:615486
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Septo-Optic Dysplasia Spectrum
Hypohidrosis, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnormality o... ORPHA:3157
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Obesity OMIM:264120
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Hypothyroidism, ST segment depression, Hypertension, Hypop... ORPHA:90065
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Necrotizing Enterocolitis
Peritonitis, Temperature instability, Lethargy, Hypotension, Hyponatremia, Small for gestational ... ORPHA:391673
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Pde4D Haploinsufficiency Syndrome
Hypotension, Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, O... ORPHA:439822
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Hepatic steatosis, Hepatomegaly, Decreased liver function, Cardiomyopathy OMIM:614922
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Lethargy, Hypotension, Blepharospasm, Torticollis, Oculogyric crisis, Hy... OMIM:608643
Chromosome 2Q37 Deletion Syndrome
Obesity, Arrhythmia, Hyperactivity OMIM:600430
Cornelia De Lange Syndrome 5
Hypogonadism, Truncal obesity OMIM:300882
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Absence of secondary sex characteristics, Hypothalamic gonadotropi... ORPHA:2235
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Obesity ORPHA:166024
Idiopathic Intracranial Hypertension
Lethargy, Obesity ORPHA:238624
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Inguinal hernia, Hyperhidrosis, Cachexia, Hyperactivity, Hypogonadism, B... ORPHA:85293
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hyperuricemia, Jaundice, Abnorm... ORPHA:93111
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Pseudohypoparathyroidism, Decreased response to growth hormone stimuation test, Con... ORPHA:280651
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Pseudohypoparathyroidism, Obesity OMIM:617157
Perrault Syndrome 4
Increased circulating gonadotropin level, Gait ataxia, Disproportionate tall stature, Decreased s... OMIM:615300
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus, Large for gestational age OMIM:616026
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation, Obesity OMIM:614651
Radio-Tartaglia Syndrome
Gait imbalance, Ataxia, Precocious puberty, Attention deficit hyperactivity disorder, Obesity OMIM:619312
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Truncal obesity, Attention deficit hyperactivity disorder, Congenital diaphragm... ORPHA:284180
Helsmoortel-Van Der Aa Syndrome
Obesity, Decreased response to growth hormone stimuation test, Hyperactivity OMIM:615873
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism OMIM:613743
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Neoplasm of the thyroid gland, Hyper... ORPHA:457059
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased hepatocellular lipid droplets, Ataxia, Glycosuria, Hepatomegaly, Decreased liver functi... OMIM:220110
Aa Amyloidosis
Hypotension, Hypothyroidism, Cholestasis, Hepatomegaly, Adrenal insufficiency ORPHA:85445
Wagr Syndrome
Obesity ORPHA:893
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia, Obesity OMIM:608624
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Glucose intolerance, Elevated hemoglobin A1c, Macrovesicular hepat... OMIM:619127
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Increased circulating renin level, Decreased circulating aldosterone l... OMIM:203400
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Cerebral hemorrhage, Obesity, Syncope, Ataxia... ORPHA:2495
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Hypocalcemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholest... OMIM:613658
Myasthenia Gravis
Acrocyanosis, Primary adrenal insufficiency, Hashimoto thyroiditis, Glycosuria, Hyperthyroidism, ... ORPHA:589
Wiedemann-Rautenstrauch Syndrome
Congenital generalized lipodystrophy, Type II diabetes mellitus, Increased subcutaneous truncal a... ORPHA:3455
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Decrea... ORPHA:79444
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Supraventricular tachycardia with an accessory connection mediated pa... ORPHA:404443
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Increased circulating very long-chain fatty acid concentration, He... OMIM:261515
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature, Ataxia, Hyperactivity OMIM:618430
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Proportionate tall stature, Biliary atresia, Pituitary aden... ORPHA:96149
Atkin-Flaitz Syndrome
Tall stature, Obesity OMIM:300431
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918