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:
CDP138,  5730419I09Rik,  C030008B15Rik

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
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Gait disturbance, Insulin res... ORPHA:2398
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Loss... OMIM:604367
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypercholesterolemia... ORPHA:181393
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... ORPHA:435660
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Proportionate t... ORPHA:528
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... OMIM:615381
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Insulin resistance, Cirrhosis, Maternal di... ORPHA:79083
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Cellulitis, Lipodystrophy, Hypertriglyceri... ORPHA:2348
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis ORPHA:79087
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystr... OMIM:615238
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Primary Lipodystrophy
Angina pectoris, Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Hyperlipidemia, Splenomega... ORPHA:90970
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... ORPHA:435651
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... ORPHA:79086
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Ketotic hypoglycemia, Hepati... ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... OMIM:619386
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Lip... ORPHA:280365
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Eleva... OMIM:606069
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Excessive insulin response to glucagon test, Large for gestationa... ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... ORPHA:95716
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189427
Idiopathic Congenital Hypothyroidism
Hypothermia, Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hor... ORPHA:95717
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189439
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hypothermia, Hepatomegaly, Micronodular cirrhosis, Pe... OMIM:251880
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, H... OMIM:619048
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Increased circulating free fatty acid level, Prolonged QT interval, Jaundice, Atrio... ORPHA:26793
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Tachycardia... OMIM:613327
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Hypertrigl... OMIM:610947
Mehmo Syndrome
Inability to walk, Decreased response to growth hormone stimulation test, Small for gestational a... OMIM:300148
Riboflavin Deficiency
Hypoglycemia, Hypothermia, Elevated circulating acylcarnitine concentration, Lethargy OMIM:615026
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Diabetes mellitus OMIM:144800
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypothermia, Hypertaurinemia, Elevated circulating aspartate aminotransferase ... OMIM:245400
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Orthostati... ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestati... ORPHA:226313
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... ORPHA:179494
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hepatomegaly, Hepatic failure, Hyp... ORPHA:159
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachyc... ORPHA:369873
Alstrom Syndrome
Hyperinsulinemia, Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone st... OMIM:203800
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... ORPHA:276608
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Ataxia, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating cr... ORPHA:42
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Ele... OMIM:617253
Laurence-Moon Syndrome
Obesity, Ataxia, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity ORPHA:791
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Adrenal insufficiency, Central adrenal insufficiency, Flexio... OMIM:612079
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... ORPHA:77296
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia, Lethargy OMIM:610006
Familial Multiple Lipomatosis
Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration, Arrhythmia,... ORPHA:3191
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increas... ORPHA:90673
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Dysbetalipoproteinemia
Angina pectoris, Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol... ORPHA:412
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism ORPHA:85274
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism OMIM:615983
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity OMIM:618160
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Narcolepsy Type 1
Obesity, Syncope ORPHA:2073
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Bardet-Biedl Syndrome 2
Obesity, Dilated cardiomyopathy, Hypogonadism, Diabetes mellitus OMIM:615981
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ataxia, Obesity, Unsteady gait OMIM:614947
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Inguinal hernia, Dysmetria, Abnormal circulating lipid concentration, D... OMIM:616541
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Umbilical hernia, Prolonged neon... ORPHA:226307
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Neonatal hyperbilirubinemia, Small for gestational age, Truncal obesity, Hypog... ORPHA:73272
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:269700
Ddost-Cdg
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Hepatic ... ORPHA:300536
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... OMIM:615954
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Increased body weight, Elevated circula... ORPHA:264580
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... ORPHA:3163
Whipple Disease
Fever, Ataxia, Hepatomegaly, Splenomegaly, Cachexia, Myocarditis, Hypotension, Hypothyroidism, My... ORPHA:3452
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... OMIM:214150
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circ... ORPHA:370
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Hypothermia, Lipid accumulation in hepatocytes, Hepatomegaly, Fever, Ataxia, Hype... ORPHA:20
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Orthostatic hypotension, Lipodystrophy, Lack of facial subcu... OMIM:606721
Immunodeficiency 61
Recurrent fever, Obesity OMIM:300310
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Supraventricular arrhythmia, Multiple joint contractures, Broad-based g... ORPHA:2959
Permanent Congenital Hypothyroidism
Hypothermia, Thyroid dysgenesis, Hypothyroidism, Umbilical hernia, Goiter, Jaundice ORPHA:226292
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Ataxia, Inability to walk, Waddling gait, Obesity OMIM:616756
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal... ORPHA:263455
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Increased serum testosterone lev... ORPHA:769
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Failure to thrive, Hypothermia, Macrovesicular hepatic steatosis, Hypog... OMIM:618329
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Increased body weight, Adrenal hyperplasia, Primary hyperco... OMIM:615830
Werner Syndrome
Slender build, Telangiectasia of the skin, Type II diabetes mellitus, Lipoatrophy, Thyroid carcin... ORPHA:902
Laron Syndrome
Abnormality of the endocrine system, Hypohidrosis, Truncal obesity, Hypoglycemia, Delayed puberty... ORPHA:633
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... ORPHA:226316
Aromatase Deficiency
Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Tall stature, Hypergonadotropic hyp... ORPHA:91
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... ORPHA:96184
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Pulmonary... ORPHA:444490
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Ataxia, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure,... OMIM:256810
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, C... OMIM:618234
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Ataxia, Hepatomegaly, Flexion contracture, Steatorrhea, Dysmetria, Pancreatic ... OMIM:616263
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Pulmonic stenosis, Cholestasis, ... OMIM:614300
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Syncope, H... ORPHA:230
Spontaneous Periodic Hypothermia
Hypothermia, Ataxia, Arrhythmia, Gait disturbance, Hyperhidrosis ORPHA:29822
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance ORPHA:90154
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Bardet-Biedl Syndrome 16
Obesity, Hypogonadism OMIM:615993
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Hernia of the abdominal wall ORPHA:3055
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Sudden cardiac death, Elevat... OMIM:614921
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanin... OMIM:618805
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circula... OMIM:212138
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Cyanosis, Low plasma citrulline, Hypoglycemia, Elevated circulatin... OMIM:261680
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Delayed pu... OMIM:614963
Leprechaunism
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Failure to thrive, Hyperinsuline... ORPHA:508
Porphyria Cutanea Tarda
Corneal scarring, Increased circulating ferritin concentration, Viral hepatitis, Periportal fibro... ORPHA:101330
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
Placental Insufficiency
Insulin resistance, Hypoxemia, Small for gestational age ORPHA:439167
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Sudden cardiac death,... OMIM:201475
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbu... OMIM:619013
Bardet-Biedl Syndrome 1
Abdominal obesity, Gait imbalance, Nephrogenic diabetes insipidus, Ataxia, Truncal obesity, Bilia... OMIM:209900
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia, Adrenocorticotropic hormone deficiency, Hyperlipidemia, Fever, Decreased response to... ORPHA:293987
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency, Failure to thrive, Choreoathetosis, Aplasia of the left hemidiaphragm OMIM:618238
48,Xxyy Syndrome
Ataxia, Type II diabetes mellitus, Tall stature, Inguinal hernia, Hypergonadotropic hypogonadism,... ORPHA:10
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Impaired glucose t... OMIM:615630
Gitelman Syndrome
Graves disease, Type I diabetes mellitus, Primary hyperaldosteronism, Prolonged QT interval, Hype... ORPHA:358
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Ataxia, Inability to walk, Hypertrophic cardiomyopat... ORPHA:70472
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Ataxia, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemi... OMIM:617575
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Abnormality of the thyroid gland, Eunuchoid habitus, Hypogonadism, Obe... ORPHA:2234
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity, Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity, Hypertension OMIM:605572
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Monosomy 13Q34
Infantile hypercalcemia, Pulmonic stenosis, Hematochezia, Insulin resistance, Obesity, Hepatic st... ORPHA:96168
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, Recurrent fever, High-output congestive heart failure,... ORPHA:231226
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Ataxia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellul... OMIM:220111
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Tachycardia, Hyperglycemia OMIM:619737
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Cerebellar hemorrhage, Acute... ORPHA:99901
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Hypogonadism ORPHA:261483
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Hypogonadotropic hypogonadism, Absence of pubertal development, Diabetes mellitus OMIM:610628
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Truncal ataxia, Abnormal circulating creatine kinase concentration, Elevated hepati... ORPHA:369840
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... OMIM:233805
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... ORPHA:228305
Central Precocious Puberty
Premature thelarche, Increased body weight, Isosexual precocious puberty, Overgrowth, Obesity, In... ORPHA:759
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Precocious puberty, Mitral regurgitation, Arrhythmia, Hypothyroidism, Aortic regu... ORPHA:254346
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Wolman Disease
Adrenal insufficiency, Fever, Hepatomegaly, Steatorrhea, Splenomegaly, Hepatic failure, Adrenal c... ORPHA:75233
Congenital Hypothyroidism
Hypothermia, Abnormality of the thyroid gland, Prolonged neonatal jaundice, Thyroid dysgenesis, A... ORPHA:442
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Tip-toe gait, Hypoketotic hypoglycemia... ORPHA:746
Silver-Russell Syndrome
Precocious puberty, Cachexia, Failure to thrive in infancy, Insulin resistance, Recurrent hypogly... ORPHA:813
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:608836
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Malignant hyperthermia, Congenital hypothyroidism ORPHA:352530
Halothane Hepatitis
Fever, Viral hepatitis, Hepatitis, Obesity, Jaundice OMIM:234350
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... ORPHA:199299
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Hyperglycemia, Reduced C-peptide level OMIM:618856
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Ataxia, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypo... OMIM:212065
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Left bundle branch block, ... ORPHA:563
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... OMIM:603471
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, Recurrent fever, High-output congestive heart failure,... ORPHA:231214
Alexander Disease
Failure to thrive, Hypothermia, Precocious puberty, Ataxia, Sudden cardiac death, Hypotension, Hy... ORPHA:58
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Truncal obesity, Obesity, Amelogenesis imperfecta OMIM:618363
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... OMIM:246200
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased body weight, Elevated hepatic transaminase, Ele... ORPHA:94086
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Leptin Deficiency Or Dysfunction
Obesity, Decreased serum leptin, Hypogonadism OMIM:614962
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hypothermia, Hepatomegaly, Flexion contracture, Hypoglycemia, Elevated hepatic... ORPHA:17
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia, Abnormality of temperature regulation, Fever, Hip contracture, Inability to walk, El... OMIM:618493
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital ... OMIM:614450
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased plasma carnitine, Hepatic st... OMIM:201450
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hypoparathyroidism, High-output congestive heart failur... ORPHA:231222
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Wilson Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic... ORPHA:905
Patent Ductus Venosus
Decreased liver function, Persistent patent ductus venosus, Hyperammonemia, Hypergalactosemia, Co... OMIM:601466
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Hypothermia, Ataxia, Subdural hemorrhage, Hyperammonemia, Hypomethioninemia, E... ORPHA:79282
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Large for gestational age OMIM:248100
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Hypoadrenocorticism, Familial
Adrenal insufficiency, Cyanosis, Hypoglycemia, Adrenal hypoplasia, Hyponatremia, Hyperkalemia OMIM:240200
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity, Lipoma ORPHA:480907
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steat... ORPHA:79303
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Difficulty walking, Waddling gait, Unsteady gait, Obesity, Puberty and gonadal disorders ORPHA:464282
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hypotension, Adrenal hypoplasia, Hepatitis, Hypoglycemic se... ORPHA:199296
Flynn-Aird Syndrome
Ataxia, Type II diabetes mellitus, Abnormality of the thyroid gland, Cachexia, Primary adrenal in... ORPHA:2047
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Pearson Syndrome
Exocrine pancreatic insufficiency, Ataxia, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria... ORPHA:699
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Bradykinesia, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Bardet-Biedl Syndrome 19
Obesity, Hypogonadism OMIM:615996
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Chronic active hepatitis, Decreased ci... OMIM:240300
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Primary Erythromelalgia
Hypothermia, Vasculitis ORPHA:90026
Developmental And Epileptic Encephalopathy 78
Hypothermia, Inability to walk OMIM:618557
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Hypotension, Hyponat... OMIM:264350
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Flexion contracture, Wrist flexion contracture, Shuffling gait, Choreoathet... OMIM:300055
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Decreased body weight, Truncal obesity, Lipodystrophy, Diabe... OMIM:270450
Congenital Analbuminemia
Hyperlipidemia, Low pulse pressure, Hypoproteinemia, Small for gestational age, Increased alpha-g... ORPHA:86816
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis OMIM:300270
Summitt Syndrome
Obesity OMIM:272350
Congenital Enterovirus Infection
Hypothermia, Fever, Hepatic failure, Hyperammonemia, Myocarditis, Hypotension, Cholestasis, Hepat... ORPHA:292
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Bardet-Biedl Syndrome 4
Obesity, Hypogonadism OMIM:615982
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... ORPHA:2088
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Hypotension, Increas... OMIM:177735
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Hypoglycemic seizure... OMIM:231530
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT... OMIM:219090
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Delayed puberty, Hypogonadism ORPHA:141333
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Pancreatitis, Tall stature, Disproportionate tall stature, Inguinal hernia, Hy... OMIM:236200
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Type II diabetes mellitus, Cardiomyopathy, Hyperglycemia OMIM:520000
Abetalipoproteinemia
Ataxia, Hepatomegaly, Steatorrhea, Broad-based gait, Abnormal circulating apolipoprotein concentr... ORPHA:14
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concentration, Ortho... OMIM:223360
Non-Functioning Pituitary Adenoma
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Adrenal insufficiency, A... ORPHA:91349
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Loss of ambulation, Obesity, Ataxia, Unsteady gait OMIM:618124
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... ORPHA:2089
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:228308
Dpm1-Cdg
Failure to thrive, Ataxia, Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase... ORPHA:79322
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Pulmonary venous hypertension, Hyperlipidemia, Pancreatitis, Hepatomegaly, Inc... ORPHA:79259
Meningococcal Meningitis
Hypothermia, Fever, Elevated circulating C-reactive protein concentration, Hypotension, Shock, Le... ORPHA:33475
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... OMIM:614582
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... ORPHA:98908
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Fever, Orthostatic hypotension, Eleva... ORPHA:556037
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Pulmonary insufficiency, Right bundle branch block, Insulin ... OMIM:619322
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia, Aortic regurgitation, Hypertrophic cardiomyopathy, Tricuspid regurgitation OMIM:616501
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration OMIM:145295
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Poems Syndrome
Abnormality of the endocrine system, Increased circulating prolactin concentration, Lipodystrophy... ORPHA:2905
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Elevated hepatic transaminase, Choreoathetosis, Neonatal hypoglycemia, Hepatic st... ORPHA:445038
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Persistent fetal circulation, Hypothermia, Small for gestational age, Elevated ci... OMIM:618775
Rafiq Syndrome
Obesity, Ataxia, Flexion contracture, Truncal obesity OMIM:614202
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... ORPHA:95409
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... ORPHA:398079
Gaisböck Syndrome
Angina pectoris, Hypovolemia, Hyperproteinemia, Elevated diastolic blood pressure, Increased circ... ORPHA:90041
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Hypoglycemia, Elev... ORPHA:348
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypothyroidism, Enamel hypoplasia, Hypocalcemic t... OMIM:612462
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level... ORPHA:79474
Schaaf-Yang Syndrome
Inability to walk, Flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, Hypogo... OMIM:615547
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia OMIM:615986
Bloom Syndrome
Abdominal obesity, Small for gestational age, Adipose tissue loss, Diabetes mellitus, Insulin res... ORPHA:125
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98754
Fryns Macrocephaly
Knee flexion contracture, Truncal obesity OMIM:600302
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Flexion contracture of digit, Dysmetria, Truncal obesity, Un... ORPHA:3041
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... OMIM:603233
Short Syndrome
Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Insu... OMIM:269880
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98793
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hyperammonemia, Hypoglycemia, Acute hepatic steatosis, Lethargy OMIM:210200
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177904
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177901
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Truncal obesity ORPHA:2429
Addison Disease
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... ORPHA:85138
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Obesity, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Acute pancreatitis, Elevated hepatic transam... OMIM:619487
Trisomy 5P
Obesity ORPHA:1742
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Ataxia, Spastic gait, Tip-toe gait OMIM:604360
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Truncal obesity, Adrenal ... OMIM:219080
Adrenomyodystrophy
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis ORPHA:977
Immunodeficiency 54
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Hepatomegaly, Splen... OMIM:609981
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... ORPHA:90793
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypothyroidism, Enamel hypoplasia, Hypocalcemic t... OMIM:103580
Nephronophthisis 15
Obesity, Hepatic failure OMIM:614845
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Hypertriglyceridemia, Gait disturbance, Delayed puberty, Hype... ORPHA:819
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Cirrhosis, Hypogonadotropic hypogonadism, Cachexia, Macrovesicula... ORPHA:298
Steinert Myotonic Dystrophy
Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Inability to walk, Hypergonadotropic hypogo... ORPHA:273
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Fever, Hypothermia, Hepatomegaly, Ataxia, Hepatic failure, Low plasma citrulli... ORPHA:255210
48,Xxxy Syndrome
Type II diabetes mellitus, Tall stature, Inguinal hernia, Pulmonary embolism, Hypogonadism, Obesi... ORPHA:96263
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Camptodactyly of finger, Arrhythmia, Truncal obesity ORPHA:2928
Tbck-Related Intellectual Disability Syndrome
Hypothermia, Inability to walk, Decreased response to growth hormone stimulation test, Central ad... ORPHA:488632
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Graves disease, Hyperthyroidism, Episodic hypokalemia... ORPHA:79102
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism OMIM:612463
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Dilated Cardiomyopathy With Ataxia
Ataxia, Microvesicular hepatic steatosis, Elevated circulating glutaric acid concentration, Hypot... ORPHA:66634
Morm Syndrome
Truncal obesity ORPHA:75858
Prader-Willi-Like Syndrome
Failure to thrive, Abnormality of the endocrine system, Precocious puberty, Decreased circulating... ORPHA:398073
Down Syndrome
Type II diabetes mellitus, Hypothyroidism, Gait disturbance, Umbilical hernia, Obesity ORPHA:870
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... ORPHA:3143
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Increased ci... OMIM:610600
Marburg Hemorrhagic Fever
Pancreatitis, Elevated circulating creatinine concentration, Pericarditis, Jaundice, Hypothermia,... ORPHA:99826
Cortisone Reductase Deficiency 1
Obesity, Precocious puberty OMIM:604931
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diab... OMIM:609069
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:2233
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Hyperbilirubinemia, Increased circulating thyroglobulin level, Congenital hypothyroi... OMIM:218700
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Hypothermia, Arrhythmia ORPHA:168593
Baralle-Macken Syndrome
Obesity, Inability to walk OMIM:619255
Summitt Syndrome
Obesity, Camptodactyly of finger, Tall stature ORPHA:3210
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Small for gestational age, Hypogon... OMIM:300869
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... ORPHA:289548
Menkes Disease
Hypothermia, Intracranial hemorrhage, Decreased circulating ceruloplasmin concentration OMIM:309400
Familial Hypoaldosteronism
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Recurrent feve... ORPHA:427
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... OMIM:618858
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep... ORPHA:71
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Paragangliomas 1
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:168000
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Failure to thrive, Precocious puberty, Decreased response to growth hormone stimulation test, Ins... ORPHA:96182
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Sple... OMIM:300972
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Waddling gait, Hepatic steatosis, Cardiomyopa... ORPHA:52430
Chung-Jansen Syndrome
Obesity OMIM:617991
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Cushing Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:96253
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated circulating... OMIM:615486
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... ORPHA:168558
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... OMIM:606176
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Tall stature, Decreased circulating cortisol level, Abnorma... ORPHA:90794
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Paragangliomas 3
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:605373
Neuroleptic Malignant Syndrome
Hypothermia, Fever, Hypomagnesemia, Hypocalcemia, Tachycardia, Pulmonary embolism, Arrhythmia, Hy... ORPHA:94093
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Glycosuria, Elevated circulating glutaric acid concentration, Hypoglycemi... OMIM:231680
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity, Hypogonadism OMIM:268050
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Precocious puberty ORPHA:254525
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... ORPHA:398069
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Failure to thrive, Ataxia, Hepatomegaly, Glycosuria, Gait disturbance, ... ORPHA:436271
Menkes Disease
Hypothermia, Inguinal hernia, Chondrocalcinosis, Intracranial hemorrhage, Hypoglycemia, Atypical ... ORPHA:565
Adult-Onset Autosomal Dominant Leukodystrophy
Hypothermia, Ataxia, Flexion contracture, Dysmetria, Decreased sweating due to autonomic dysfunct... ORPHA:99027
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Ataxia, Microvesicular hepatic steatosis, Cholestasi... OMIM:124000
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... ORPHA:54595
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... ORPHA:556030
Lysosomal Acid Lipase Deficiency
Hepatic failure, Steatorrhea, Weight loss, Jaundice, Elevated hepatic transaminase, Primary adren... ORPHA:275761
Bardet-Biedl Syndrome 21
Obesity, Elevated hepatic transaminase, Overweight OMIM:617406
Senior-Loken Syndrome 9
Obesity, Hepatic fibrosis, Cholestasis, Hypogonadism OMIM:616629
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus OMIM:222100
8P23.1 Duplication Syndrome
Pulmonic stenosis, Adrenal insufficiency ORPHA:251076
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Ataxia ORPHA:411515
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Flexion contracture, Choreoathetosis, Neonatal hypoglycemia, Hepatic steatosis, Congestiv... OMIM:616271
Bardet-Biedl Syndrome 8
Obesity, Hypogonadism OMIM:615985
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Obesity, Shuffling gait, Congestive heart failure ORPHA:3077
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Pubertal developmental failure in females, Myocardial infarction, Weight loss, T... ORPHA:740
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... ORPHA:293978
Clark-Baraitser Syndrome
Obesity OMIM:617752
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration,... ORPHA:98907
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis OMIM:615918
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, D... OMIM:611126
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Dysmetria, Gait disturbance, Unsteady gait, Obesity ORPHA:93952
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased body weight, Hepatocellula... ORPHA:79240
Prader-Willi Syndrome
Adrenal insufficiency, Abdominal obesity, Hyperinsulinemia, Precocious puberty, Type II diabetes ... OMIM:176270
6Q16 Microdeletion Syndrome
Broad-based gait, Obesity ORPHA:171829
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Steatorrh... OMIM:269200
Cimdag Syndrome
Cholelithiasis, Ataxia, Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Hypogonadism OMIM:619273
Urban-Rogers-Meyer Syndrome
Obesity, Camptodactyly of finger, Flexion contracture of toe, Hypogonadism ORPHA:3409
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Sudden cardiac death, Nonprogressive cerebellar ataxia, Dilated... OMIM:610198
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity, Abnormality of the endocrine system, Pseudohypoparathyroidism ORPHA:464288
15Q24 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Decreased response to growth hormone stimulat... ORPHA:94065
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Kearns-Sayre Syndrome
Hypoparathyroidism, Ataxia, Arrhythmia, Third degree atrioventricular block, Primary adrenal insu... OMIM:530000
Ethylene Glycol Poisoning
Hypothermia, Ataxia, Hypocalcemia, Cyanosis, Tachycardia, Hypotension, Shock, Hypertension, Atria... ORPHA:31826
Septo-Optic Dysplasia Spectrum
Abnormality of the hypothalamus-pituitary axis, Maternal diabetes, Hypohidrosis, Obesity, Anterio... ORPHA:3157
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Cerebral ischemia, Syncope, Prolonged QTc interval, M... ORPHA:90065
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Hypergonadotropic hypogonadism, Intracranial hemorr... OMIM:617053
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Hepatomegaly, Jaundice, Hyperbilirubinemia, Cirrhosis, Glyco... OMIM:229600
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Perrault Syndrome 4
Hypoplasia of the ovary, Disproportionate tall stature, Gait ataxia, Decreased serum estradiol, O... OMIM:615300
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Heart murmur, Hyperalaninemia, Obesity, Hyper... OMIM:615418
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology, Gait ... ORPHA:43
Necrotizing Enterocolitis
Small for gestational age, Peritonitis, Hypotension, Shock, Abnormal glucose homeostasis, Tempera... ORPHA:391673
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Obesity, Abnormal dental enamel morphology, Hypot... ORPHA:439822
Ane Syndrome
Multiple joint contractures, Decreased serum testosterone concentration, Lipoatrophy, Reduced cir... ORPHA:157954
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... ORPHA:739
Pure Autonomic Failure
Orthostatic hypotension, Anhidrosis, Abnormality of circulating catecholamine level, Syncope ORPHA:441
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... OMIM:618641
Ataxia-Oculomotor Apraxia Type 4
Obesity, Ataxia ORPHA:459033
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Gait ataxia, Delayed puberty, Hypogonadism OMIM:300354
Coenzyme Q10 Deficiency, Primary, 2
Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension, Obesity OMIM:614651
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis, Cardiomyopathy, Lethargy OMIM:614922
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Myocardial infarcti... ORPHA:99889
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... OMIM:619991
Idiopathic Intracranial Hypertension
Obesity, Lethargy ORPHA:238624
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, High urinary gonadotropin level, Myocardial infarction, Prolonged QT interval, ... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, High urinary gonadotropin level, Myocardial infarction, Prolonged QT interval, ... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, High urinary gonadotropin level, Myocardial infarction, Prolonged QT interval, ... ORPHA:99228
Monosomy X
Hyperinsulinemia, High urinary gonadotropin level, Myocardial infarction, Prolonged QT interval, ... ORPHA:99226
Alström Syndrome
Ataxia, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure,... ORPHA:64
X-Linked Cerebral Adrenoleukodystrophy
Hamstring contractures, Ataxia, Inability to walk, Abnormal circulating fatty-acid concentration,... ORPHA:139396
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Pseudohypoparathyroidism OMIM:617157
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Triple A Syndrome
Adrenal insufficiency, Ataxia, Anterior hypopituitarism ORPHA:869
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... ORPHA:93111
D-Bifunctional Protein Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Primar... OMIM:261515
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Hyperph... ORPHA:457059
Sarcoidosis
Decreased liver function, Fever, Hypothermia, Hepatomegaly, Scarring, Hyperthyroidism, Hepatic fa... ORPHA:797
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Aa Amyloidosis
Adrenal insufficiency, Hepatomegaly, Hypotension, Cholestasis, Hypothyroidism ORPHA:85445
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Meningioma
Ataxia, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hypot... ORPHA:2495
Myasthenia Gravis
Hyperthyroidism, Raynaud phenomenon, Glycosuria, Primary adrenal insufficiency, Hepatitis, Abnorm... ORPHA:589
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Ataxia, Truncal ataxia, Increased circulating prolactin conc... ORPHA:3455
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hepatic fibrosis, Hypogonadism, Obesity, Hypertension ORPHA:110
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Decreased liver function, Failure to thrive, Hypocalcemia, Inguinal hernia, Small ... OMIM:613658
Radio-Tartaglia Syndrome