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Gene: Ctf1 MGI:105115

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cardiotrophin 1

Synonyms:

CT-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ctf1 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.

Human diseases associated with Ctf1 (0 diseases)
Human diseases predicted to be associated with Ctf1 (676 diseases)

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

The table below shows human diseases predicted to be associated to Ctf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:608030
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo...	OMIM:615703
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy	OMIM:105500
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, H...	OMIM:232700
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis	OMIM:612577
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy	OMIM:617892
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas	ORPHA:2398
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Increased C-peptide level, Hyperinsulinemia, Hypoglycemi...	ORPHA:276575
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c...	OMIM:105400
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod...	OMIM:612526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Increased C-peptide level, Hyperinsul...	ORPHA:276580
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616437
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov...	ORPHA:79084
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Increased C-peptide level, Hypogl...	ORPHA:276556
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:151660
Obesity And Hypopigmentation	Hyperinsulinemia, Polyphagia, Obesity, Overgrowth, Hepatic steatosis	OMIM:620195
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu...	OMIM:301033
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells	OMIM:253550
Monomelic Amyotrophy	Degeneration of anterior horn cells	ORPHA:65684
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ...	ORPHA:412066
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity, Tall stature	OMIM:618406
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Neuronal loss in central n...	OMIM:105550
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop...	ORPHA:528
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Type 1 Diabetes Mellitus	Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po...	OMIM:222100
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious...	OMIM:616222
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:600274
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul...	ORPHA:79237
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h...	ORPHA:35878
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsu...	ORPHA:263455
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty...	ORPHA:3085
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe fail...	OMIM:246200
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab...	ORPHA:791
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype...	ORPHA:2849
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:612069
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem...	OMIM:615381
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem...	ORPHA:79083
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Hypogonadism, Polyphagia, Decreased testicular size	OMIM:614962
Acquired Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Hepatic steatosis	ORPHA:79087
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip...	OMIM:248370
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem...	ORPHA:2348
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:608627
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Hypogonadism, Obesity	ORPHA:85274
Low Phospholipid-Associated Cholelithiasis	Diabetes mellitus, Liver abscess, Cholangitis, Hypercholesterolemia, Overweight, Intrahepatic cho...	ORPHA:69663
Mehmo Syndrome	Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A...	OMIM:300148
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Hsd10 Mitochondrial Disease	Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior...	OMIM:300438
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu...	ORPHA:79086
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Spinal Muscular Atrophy, Type Iii	Degeneration of anterior horn cells	OMIM:253400
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi...	ORPHA:96184
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration	ORPHA:803
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Cryptorchidism, Obesity	OMIM:309585
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Acute pa...	OMIM:608594
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati...	ORPHA:280365
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, In...	ORPHA:71212
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the testes, Hernia of the abdominal wall, Obesity	ORPHA:3055
Short Syndrome	Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul...	OMIM:269880
Mehmo Syndrome	Cryptorchidism, Diabetes mellitus, Agitation, Obesity	ORPHA:85282
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Decreased activity of mitochondrial complex IV, Obesity	OMIM:619058
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Obesity, Aggressive behavior	OMIM:620270
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo...	OMIM:182290
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint con...	OMIM:175700
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Hypertr...	OMIM:269700
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp...	ORPHA:75234
Citrullinemia Type Ii	Hypoproteinemia, Restlessness, Hyperactivity, Hepatomegaly, Decreased body mass index, Hypertrigl...	ORPHA:247585
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity	OMIM:615987
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypo...	ORPHA:73272
Bardet-Biedl Syndrome 5	Hypogonadism, Obesity	OMIM:615983
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:615911
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hyp...	ORPHA:465508
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased HDL choleste...	ORPHA:412
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentra...	OMIM:613327
Narcolepsy Type 1	Obesity	ORPHA:2073
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Degeneration of anterior horn cells	OMIM:159950
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceride...	ORPHA:2088
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size	ORPHA:261483
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Brain atrophy	ORPHA:52430
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Addictive alcohol use, Hypercholesterolemia, Hyperglycemia, Hypothyroidism	ORPHA:90065
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion...	OMIM:214150
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Alstrom Syndrome	Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea...	OMIM:203800
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Elevated creatine kinase after exercise, Decreased mitochondrial num...	ORPHA:352470
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells	OMIM:301830
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth	ORPHA:199276
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Obesity	OMIM:300209
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ...	OMIM:609069
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Neonatal hyperbilirubinemia, Decr...	ORPHA:90674
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ...	ORPHA:769
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Cholesteryl Ester Storage Disease	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Decreased HDL cholesterol concentration, A...	OMIM:278000
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Placental Insufficiency	Hypoxemia, Insulin resistance, Small for gestational age	ORPHA:439167
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st...	OMIM:615710
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hypoglycemia, Hyperammonemia, Decreased activity of mitochondrial complex III, Hyperglycemia, Fai...	OMIM:615453
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated circulating creatine kinase co...	ORPHA:79240
Spinal Muscular Atrophy, Type Iv	Degeneration of anterior horn cells	OMIM:271150
11P15.4 Microduplication Syndrome	Obesity, Aggressive behavior	ORPHA:300305
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral...	ORPHA:134
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Hernández-Aguirre Negrete Syndrome	Obesity, Delayed puberty	ORPHA:2139
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Laurence-Moon Syndrome	Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity	ORPHA:2377
Pontocerebellar Hypoplasia, Type 1A	Degeneration of anterior horn cells, Cerebral cortical atrophy	OMIM:607596
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Elevated...	OMIM:617253
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Hyperinsulinemic hypoglycem...	ORPHA:79319
Aromatase Deficiency	Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys...	ORPHA:91
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes i...	ORPHA:293987
Pontocerebellar Hypoplasia Type 1	Degeneration of anterior horn cells, Cerebral cortical atrophy	ORPHA:2254
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl...	ORPHA:436182
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased...	ORPHA:189427
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
48,Xxyy Syndrome	Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Cryptorchidis...	ORPHA:10
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyperinsulinemic hypogly...	OMIM:602579
Bardet-Biedl Syndrome 16	Hypogonadism, Obesity	OMIM:615993
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat...	ORPHA:3191
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de...	OMIM:610628
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Failure to thrive, Hyperglutamatemia, Hypoglycemia, Hyperalaninem...	ORPHA:3008
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li...	ORPHA:440713
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate...	OMIM:603233
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
14Q11.2 Microduplication Syndrome	Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism	ORPHA:261229
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Obesity, Delayed puberty	OMIM:301900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Bardet-Biedl Syndrome 4	Cryptorchidism, Hypogonadism, Obesity	OMIM:615982
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Chung-Jansen Syndrome	Impulsivity, Aggressive behavior, Cryptorchidism, Obesity, Attention deficit hyperactivity disorder	OMIM:617991
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, ...	ORPHA:819
Cog4-Cdg	Hypercholesterolemia, Failure to thrive in infancy, Cirrhosis, Hepatosplenomegaly	ORPHA:263501
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors	ORPHA:444002
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia	ORPHA:391673
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number, Mildly elevated creatine kinase	ORPHA:457050
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Hypogona...	OMIM:615547
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co...	ORPHA:99885
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology	ORPHA:1145
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypoph...	OMIM:227810
Morm Syndrome	Truncal obesity, Hyperactivity, Aggressive behavior	ORPHA:75858
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin...	ORPHA:681
Werner Syndrome	Lipodystrophy, Lipoatrophy, Insulin resistance, Ovarian neoplasm, Thyroid carcinoma, Hypogonadism...	ORPHA:902
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin resistance, O...	ORPHA:813
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c...	OMIM:615830
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Congenital hypothyroidism	ORPHA:88643
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Cryptorchidism, Obesity, Congenital hypothyroidism	OMIM:614613
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob...	OMIM:300869
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity, Hypogonadotropic hypogonadism	ORPHA:177910
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Lipoma, Obesity, Oral-pharyngeal dysphagia	ORPHA:480907
Summitt Syndrome	Obesity	OMIM:272350
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity...	OMIM:612462
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Macroorchi...	ORPHA:3077
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins...	ORPHA:508
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Bardet-Biedl Syndrome 7	Hypogonadism, Obesity	OMIM:615984
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugat...	OMIM:619662
Ane Syndrome	Motor neuron atrophy	ORPHA:157954
Atypical Werner Syndrome	Hepatic steatosis, Decreased body weight, Diabetes mellitus, Failure to thrive, Hypertriglyceride...	ORPHA:79474
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Degeneration of anterior horn cells, ...	ORPHA:276244
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Truncal obesity, Abnormal...	OMIM:616541
Idiopathic Camptocormia	Cerebral atrophy, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis	ORPHA:1320
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Microtriplication 11Q24.1	Hyperlipidemia, Obesity, Bruxism	ORPHA:289522
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Degeneration of anterior horn cells, Axonal degeneration	OMIM:604320
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
Whipple Disease	Hyponatremia, Hepatomegaly, Anorexia, Cachexia, Splenomegaly, Insulin resistance, Polydipsia, Hyp...	ORPHA:3452
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty	ORPHA:90154
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance...	OMIM:615630
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal testis morphology, Hypogonadism, Obesity	ORPHA:2233
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:99013
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity	ORPHA:2183
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin...	OMIM:600430
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ...	OMIM:176270
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Inappropriate laughter, Obesity	ORPHA:411515
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Obesity, A...	ORPHA:398079
Wilson-Turner Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity	ORPHA:3459
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Pseudohypoparathyroidism, Obesity	OMIM:612463
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Hyperactivity, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Se...	ORPHA:254346
Rafiq Syndrome	Truncal obesity, Flexion contracture, Obesity, Aggressive behavior	OMIM:614202
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Clark-Baraitser Syndrome	Hyperactivity, Obesity, Aggressive behavior	OMIM:617752
Gitelman Syndrome	Neoplasm of the pancreas, Salt craving, Maternal diabetes, Hypomagnesemia, Insulin resistance, Hy...	ORPHA:358
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Incr...	ORPHA:26793
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc...	ORPHA:90041
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity	OMIM:614651
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,...	OMIM:209900
Bardet-Biedl Syndrome 19	Hepatic steatosis, Hypogonadism, Obesity	OMIM:615996
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ...	OMIM:103580
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Flexion contracture, Obesity, Bruxism, Macroorchidism, Male hypogonadism, Wrist fle...	OMIM:300055
Immunodeficiency 61	Obesity, Attention deficit hyperactivity disorder	OMIM:300310
Frontotemporal Dementia With Motor Neuron Disease	Disinhibition, Abnormal mitochondrial morphology, Dysphagia	ORPHA:275872
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	ORPHA:300605
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose...	OMIM:219090
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Monosomy 13Q34	Hypercalcemia, Insulin resistance, Hepatic steatosis, Obesity	ORPHA:96168
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc...	ORPHA:453533
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Trisomy 5P	Obesity	ORPHA:1742
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity, Congenital hypothyroidism	ORPHA:352530
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Summitt Syndrome	Camptodactyly of finger, Obesity, Tall stature	ORPHA:3210
13Q12.3 Microdeletion Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Failure t...	ORPHA:412035
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity	OMIM:604931
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia	OMIM:619063
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis	ORPHA:600
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper...	OMIM:618363
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Hepatomegaly, Failure to thrive, Hypoglycemia, Hypertriglyceridemia, Hepatocel...	ORPHA:79259
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu...	OMIM:270450
48,Xxxy Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Azoospermia, Hypogon...	ORPHA:96263
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture, Breast aplasia, Hyperlipidemia	ORPHA:90153
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp...	ORPHA:79445
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Polydipsia, Abnormalit...	ORPHA:3157
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap...	ORPHA:94065
Rett Syndrome	Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Failu...	ORPHA:778
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells	OMIM:271225
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cryptorchidism, Umbilical hernia, Obesity	ORPHA:171839
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Obesity	ORPHA:464288
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Dysphagia	OMIM:604360
Nephronophthisis 15	Obesity	OMIM:614845
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Obesity	OMIM:300238
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Cryptorchidism, Abdominal obesity, Hypogonadism, Delayed pube...	OMIM:300354
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Decreased activity...	OMIM:124000
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperactivity, Obesity	ORPHA:397973
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Congenital diaphragmat...	OMIM:600001
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri...	OMIM:618160
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Decreased activi...	OMIM:615418
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Decreased testicular size, Truncal obesity, Hypogonadism, Fl...	ORPHA:3041
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Bilateral cryptorchidism, Obesity, Male hypogonadism, Pancreatitis	OMIM:619471
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity	OMIM:615985
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Cryptorchidism, Obesity, Hypogonadism, Flexion contracture of toe	ORPHA:3409
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Cerebral atrophy	OMIM:611890
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abno...	ORPHA:163681
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms...	OMIM:618430
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Impulsivity, Precocious puberty, Cryptorchidism, Flexion contracture, Increas...	ORPHA:398069
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H...	ORPHA:470
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Obesity, Tall stature	OMIM:618089
Obesity-Hypoventilation Syndrome	Cyanosis, Obesity	OMIM:257500
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Attention deficit hyperacti...	ORPHA:284180
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Wagr Syndrome	Cryptorchidism, Obesity	ORPHA:893
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Hypogonadism, Obesity	ORPHA:363741
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Neuhauser Syndrome	Hypercholesterolemia, Primary hypothyroidism, Dysphagia	OMIM:249310
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hypogonadism, Obesity	OMIM:601794
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism, Obesity	OMIM:615633
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Obesity	ORPHA:1035
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Cerebral cortical atrophy	OMIM:606353
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Obesity	ORPHA:464282
Atkin-Flaitz Syndrome	Macroorchidism, Obesity	ORPHA:1193
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Failure to thrive, Decreased circulating copper concentration, Sp...	OMIM:300972
Cornelia De Lange Syndrome 5	Cryptorchidism, Hypogonadism, Decreased testicular size, Truncal obesity	OMIM:300882
Friedreich Ataxia	Mitochondrial malic enzyme reduced, Diabetes mellitus, Decreased pyruvate carboxylase activity	OMIM:229300
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t...	OMIM:615300
Clark-Baraitser syndrome	Macroorchidism, Obesity, Tall stature	OMIM:300602
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t...	ORPHA:2126
Tatton-Brown-Rahman Syndrome	Aggressive behavior, Cryptorchidism, Obesity, Proportionate tall stature, Umbilical hernia, Neuro...	ORPHA:404443
Baralle-Macken Syndrome	Obesity	OMIM:619255
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity	OMIM:184700
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Bloom Syndrome	Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Oligozoosp...	ORPHA:125
Carpenter Syndrome	Cryptorchidism, Umbilical hernia, Obesity, Polysplenia	ORPHA:65759
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Hypersplenism, Microvesicula...	ORPHA:275761
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Abnormal repetitive mannerisms, Hypercholesterolemia	ORPHA:2479
Angelman Syndrome Due To A Point Mutation	Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent...	ORPHA:411511
Senior-Loken Syndrome 9	Hypogonadism, Hepatic fibrosis, Cholestasis, Obesity	OMIM:616629
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Bardet-Biedl Syndrome 21	Overweight, Obesity	OMIM:617406
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Luscan-Lumish Syndrome	Aggressive behavior, Obesity, Polycystic ovaries, Overgrowth, Polyphagia	OMIM:616831
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated circulating creatine kin...	ORPHA:352447
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di...	OMIM:619312
White-Sutton Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Hypoglycemic seizur...	OMIM:616364
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology	OMIM:215470
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Pica, Obesity, Aggressive behavior	OMIM:620191
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Abnormal mitochondrial shape, Hypoglycemia, Aggressive beha...	ORPHA:17
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aggressive behavior, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Attention ...	OMIM:301039
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets...	OMIM:220111
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Camptodactyly of finger	ORPHA:2928
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Decreased fumarate hydratase activity, Intrahepatic cholesta...	OMIM:606812
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ...	ORPHA:85293
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry...	ORPHA:739
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph...	ORPHA:98794
Joubert Syndrome 37	Cryptorchidism, Obesity, Decreased testicular size, Hepatomegaly	OMIM:619185
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Compulsive behaviors, Abnormal repetitive mannerisms, Hyponat...	ORPHA:534
Neutral Lipid Storage Myopathy	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pancreatitis, Obesity, Pineal cyst...	ORPHA:98908
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity, Aggressive behavior	OMIM:619056
Ring Chromosome Y Syndrome	Streak ovary, Unilateral cryptorchidism, Cryptorchidism, Obesity, Azoospermia, Male hypogonadism	ORPHA:261529
Pde4D Haploinsufficiency Syndrome	Abnormal dental enamel morphology, Cryptorchidism, Elevated circulating parathyroid hormone level...	ORPHA:439822
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Angelman Syndrome	Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel...	ORPHA:72
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Polypha...	ORPHA:251004
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Obesity	ORPHA:85286
Megalencephaly	Macroorchidism, Truncal obesity	ORPHA:2477
Distal 16P11.2 Microdeletion Syndrome	Hyperuricemia, Obesity, Attention deficit hyperactivity disorder	ORPHA:261222
Pancreatic Agenesis 1	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc...	OMIM:260370
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251110
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor...	ORPHA:363618
Intellectual Developmental Disorder, X-Linked 12	Cryptorchidism, Increased body mass index, Small for gestational age, Truncal obesity	OMIM:300957
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity, Polysplenia	OMIM:610543
2Q37 Microdeletion Syndrome	Supernumerary nipple, Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity d...	ORPHA:1001
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Overgrowth	OMIM:605309
Congenital Myopathy 9A	Cryptorchidism, Obesity	OMIM:618822
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia, Decreased testicular size	OMIM:612469
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Diabetes mellitus, Hypothyroidism, Abnormal circulating creatine ...	ORPHA:263297
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Decreased body weight, Obesity, Dysphagia	ORPHA:589821
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:615926
Müllerian Aplasia And Hyperandrogenism	Obesity, Abnormality of the ovary, Increased serum testosterone level	ORPHA:247768
Scorpion Envenomation	Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Increased circul...	ORPHA:466677
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc...	ORPHA:99889
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Hepatosplenomegaly,...	OMIM:301066
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera...	ORPHA:96253
Distal Deletion 12Q	Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturi...	ORPHA:96149
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Bardet-Biedl Syndrome	Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis	ORPHA:110
Sitosterolemia 1	Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol concentration, Xanthel...	OMIM:210250
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Overgrowth, Obesity, Aggressive behavior	OMIM:620250
Down Syndrome	Umbilical hernia, Hypothyroidism, Type II diabetes mellitus, Obesity	ORPHA:870
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Truncal obesity, Hypogonadism, Camptodactyly of toe, Decreased testicular size	ORPHA:127
Carpenter Syndrome 1	Omphalocele, Precocious puberty, Cryptorchidism, Obesity, Polysplenia, Camptodactyly, Umbilical h...	OMIM:201000
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Obesity	ORPHA:2180
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251100
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape, Cyanosis	OMIM:610773
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity	ORPHA:444077
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic...	OMIM:620185
Bardet-Biedl Syndrome 17	Polydipsia, Hypogonadism, Obesity	OMIM:615994
Kleefstra Syndrome	Supernumerary nipple, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Hern...	ORPHA:261494
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abnormal rep...	OMIM:619229
Kleefstra Syndrome 1	Aggressive behavior, Cryptorchidism, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms	OMIM:610253
Man1B1-Cdg	Truncal obesity, Polyphagia	ORPHA:397941
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis, Failure to thri...	OMIM:615595
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesity, Abnormal circulating creatin...	ORPHA:98907
Laurence-Moon Syndrome	Obesity	OMIM:245800
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag...	OMIM:309000
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619680
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size	OMIM:610644
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Failure to thrive, Elevated circulating creatine kinase concentration	OMIM:619518
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Failure to th...	ORPHA:261197
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m...	OMIM:500013
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re...	ORPHA:2495
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Abnormality of Krebs cycle metabolism, Low plasma citrulline, Dysphagia, Hyperalani...	ORPHA:255210
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99413
Turner Syndrome	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:881
Mosaic Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99226
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Cryptorchidism, Streak ovary, Obesity	OMIM:194072
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Attention deficit hyperact...	ORPHA:251071
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Tall stature, Hypoglycemia, Inguinal hernia...	ORPHA:116
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Obesity, Compulsive behaviors	OMIM:618443
Alagille Syndrome 1	Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ...	OMIM:118450
White-Sutton Syndrome	Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav...	ORPHA:468678
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Caudate atrophy, Cerebral atrophy	OMIM:221770
Momo Syndrome	Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature	ORPHA:2563
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Femoral hernia, Cryptorchidism, Obesity, Failure to thrive, Abnormal testis morp...	ORPHA:96147
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling, Mildly elevated creatine kinase, Dysphagia	ORPHA:397744
Liver Disease, Severe Congenital	Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He...	OMIM:619991
Shox-Related Short Stature	Obesity	ORPHA:314795
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	ORPHA:478
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology	ORPHA:31
Peripartum Cardiomyopathy	Diabetes mellitus, Abnormality of thyroid physiology, Obesity	ORPHA:563
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Increased mitochondrial number	OMIM:615578
Barth Syndrome	Failure to thrive, Abnormal mitochondrial morphology	OMIM:302060
Carney Complex	Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ...	ORPHA:1359
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Hyperalaninemia, Failure to thrive, Mitochondrial ...	OMIM:618250
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Achondroplasia	Hypoxemia, Obesity	ORPHA:15
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con...	OMIM:614098
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi...	ORPHA:177907
Angelman Syndrome	Hyperactivity, Paroxysmal bursts of laughter, Obesity	OMIM:105830
Ulnar-Mammary Syndrome	Camptodactyly of finger, Cryptorchidism, Obesity, Breast aplasia, Hypoplastic nipples, Delayed pu...	ORPHA:3138
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou...	ORPHA:740
Adiposis Dolorosa	Hypothyroidism, Obesity	ORPHA:36397
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Cohen Syndrome	Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ...	OMIM:216550
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Failure to thrive, Hypoketotic hypoglycemia	OMIM:610768
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methylmalonyl-CoA mutase activity, Hyperhomo...	OMIM:277410
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Attention d...	OMIM:616078
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Decreased methy...	OMIM:277400
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Small for gestational age, Limb joint contracture, Decreased resting energy expendi...	ORPHA:404454
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb...	ORPHA:247353
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin	OMIM:614008
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity	ORPHA:369837
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity, Supernumerary nipple	ORPHA:3224
Rabin-Pappas Syndrome	Hyponatremia, Overgrowth, Obesity, Failure to thrive in infancy	OMIM:620155
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus	OMIM:619269
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Cryptorchidism, Abnormal re...	OMIM:615873
Combined Oxidative Phosphorylation Deficiency 15	Decreased activity of mitochondrial complex I, Inguinal hernia, Decreased activity of mitochondri...	OMIM:614947
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Dysphagia	ORPHA:412217
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behaviors, Abnormal...	ORPHA:369950
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration	OMIM:602541
Cohen Syndrome	Cryptorchidism, Failure to thrive in infancy, Obesity, Delayed puberty	ORPHA:193
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape, Dysphagia	ORPHA:485421
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Restrictive behavior, Hyperactivity, Hepatic steatosis, Failure to thrive, Impulsivity, Aggressiv...	OMIM:619475
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Elbow flexion contracture, Obesity	OMIM:618493
Adnp Syndrome	Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidism, Truncal obesity,...	ORPHA:404448
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, Hypogonadism	OMIM:614231
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit hyperac...	ORPHA:466950
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity	OMIM:150800
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus	OMIM:210720
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation	ORPHA:293948
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, ...	OMIM:619534
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Failure to thrive, Abnormal mitochondrial shape	ORPHA:543470
1P36 Deletion Syndrome	Hepatic steatosis, Camptodactyly of finger, Cryptorchidism, Hypothyroidism, Abnormality of the sp...	ORPHA:1606
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Supernumerary nipple, Cryptorchidism, Obesity, Abnormal repetitive mannerisms	OMIM:618653
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Obesity, Dysphagia	ORPHA:2822
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Digeorge Syndrome	Hepatic steatosis, Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating p...	OMIM:188400
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Obesity	OMIM:617296
Pmm2-Cdg	Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g...	ORPHA:79318
Chops Syndrome	Splenomegaly, Cryptorchidism, Obesity	OMIM:616368
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Cryptorc...	ORPHA:567
3Q29 Microduplication Syndrome	Camptodactyly of toe, Obesity	ORPHA:251038
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Increased circ...	ORPHA:1772
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ...	ORPHA:466943
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder	ORPHA:2637
Microcephalic Primordial Dwarfism, Dauber Type	Bilateral breast hypoplasia, Obesity	ORPHA:319675
Xylt1-Cdg	Hepatomegaly, Truncal obesity	ORPHA:370930
Kabuki Syndrome	Congenital diaphragmatic hernia, Precocious puberty, Cryptorchidism, Obesity, Failure to thrive	ORPHA:2322
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm...	OMIM:222700
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353281
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Primrose Syndrome	Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circul...	OMIM:259050
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ...	OMIM:301072
Friedreich Ataxia 2	Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activity	OMIM:601992
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b...	ORPHA:529962
Diamond-Blackfan Anemia 21	Obesity	OMIM:620072
Bardet-Biedl Syndrome 12	Hypogonadism, Obesity	OMIM:615989
White-Kernohan Syndrome	Hypothyroidism, Obesity, Attention deficit hyperactivity disorder	OMIM:619426
Witteveen-Kolk Syndrome	Hyperactivity, Inguinal hernia, Unilateral cryptorchidism, Decreased response to growth hormone s...	OMIM:613406
Williams-Beuren Syndrome	Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Portal hypertens...	OMIM:194050
Chronic Thromboembolic Pulmonary Hypertension	Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent...	ORPHA:70591
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Williams Syndrome	Inguinal hernia, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Hypercalcemia, Elev...	ORPHA:904
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Hypothyroidism, Obesity, Congenital...	OMIM:607872
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induced behavior, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induced behavior, ...	ORPHA:353277
Rubinstein-Taybi Syndrome 1	Accessory spleen, Hyperactivity, Small for gestational age, Impulsivity, Premature thelarche, Bil...	OMIM:180849
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contra...	OMIM:181450
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia	ORPHA:48652
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic steatosis, Dec...	OMIM:619321
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Myhre Syndrome	Cryptorchidism, Small for gestational age, Obesity, Camptodactyly	OMIM:139210
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Failure to thrive, Pseudohypoparathyroidism, Obesity	OMIM:617157
Carpenter Syndrome 2	Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Obesity, Knee flexion contracture...	OMIM:614976
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Truncal obesity, Hypoplastic nipples, Compulsive...	ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Decreased testicular size, Hyperactivity, Cryptorchidism, Obesity, Hypogonadism, Paroxysmal burst...	OMIM:309580
Tako-Tsubo Cardiomyopathy	Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration	ORPHA:66529
6Q Terminal Deletion Syndrome	Failure to thrive, Obesity	ORPHA:75857
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repetitive m...	OMIM:612474
Leukocyte Adhesion Deficiency	Peritonitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidi...	OMIM:601803

Histopathology

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

There is no histopathology data for Ctf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ctf1.

No publications found that use IMPC mice or data for Ctf1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ctf1^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ctf1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ctf1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ctf1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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