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Gene: Angptl6 MGI:1917976

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
angiopoietin-like 6
Synonyms:
Angiopoietin-related growth factor,  6330404E11Rik,  Arp5,  AGF

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 Angptl6 mutations

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

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

The table below shows human diseases associated to Angptl6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Cerebral Saccular Aneurysm
ORPHA:231160

The table below shows human diseases predicted to be associated to Angptl6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... OMIM:608600
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... OMIM:232700
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology ORPHA:2398
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
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, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Insu... OMIM:612526
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... OMIM:615980
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, De... ORPHA:276575
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:151660
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... OMIM:301033
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypogl... ORPHA:276580
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia ORPHA:79084
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Increased C-peptide level, Large for gestational age, Hypoglycemic seizure... ORPHA:276556
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia OMIM:615026
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... ORPHA:35878
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellitus, Adipose ti... ORPHA:528
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Analbuminemia
Lipodystrophy, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increase... OMIM:616000
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... ORPHA:363400
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Incre... ORPHA:26793
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Increa... ORPHA:79237
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Hypothermia, Thyroid defect in oxidation and organification ... ORPHA:95716
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Li... OMIM:248370
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... OMIM:610582
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... OMIM:615238
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Essential Fructosuria
Hyperglycemia ORPHA:2056
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... ORPHA:263455
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Diabetes melli... OMIM:615381
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... OMIM:246200
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hypothermia, Hyperglycinemia, Neonatal death, Failure to thrive, Hypertaurinemia OMIM:245400
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Diabetes mellitu... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, D... ORPHA:2348
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Small... ORPHA:73272
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Short Syndrome
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin resistance, Absen... OMIM:269880
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth ORPHA:199276
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia, Tall stature ORPHA:2849
Placental Insufficiency
Hypoxemia, Insulin resistance, Small for gestational age, Small placenta ORPHA:439167
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... ORPHA:90674
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... ORPHA:280365
Timothy Syndrome
Hypoglycemia, Hypothermia, Patent ductus arteriosus, Hypocalcemia, Hypothyroidism OMIM:601005
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O... OMIM:300148
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Goiter, Elev... ORPHA:90673
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... ORPHA:79086
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Narcolepsy Type 1
Obesity ORPHA:2073
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting ... ORPHA:159
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... OMIM:608594
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex... OMIM:214150
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hypothermia, Insulin resistance, Elevated circulating creatinine concentration, Hyp... ORPHA:230
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... OMIM:269700
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Fanconi-Bickel Syndrome
Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... ORPHA:2088
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... ORPHA:681
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Obesity, Increa... ORPHA:412
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia, Temperature... ORPHA:391673
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... ORPHA:769
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E... ORPHA:465508
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin ... OMIM:613327
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia, Hypopituitarism, Hypothyroidism ORPHA:90065
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia OMIM:615453
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism ORPHA:261483
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Abnormal circulating lipid concentration, Type II diabetes mellitus, Obesity ORPHA:3191
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Hypothermia OMIM:614654
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... ORPHA:94086
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Beta-Ketothiolase Deficiency
Fever, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia ORPHA:134
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypothermia OMIM:616501
Seckel Syndrome 10
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteini... OMIM:617253
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate... OMIM:603233
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity ORPHA:69663
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Primary Erythromelalgia
Hypothermia ORPHA:90026
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem... OMIM:227810
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Malignant hyperthermia, Congenital hypothyroidism ORPHA:352530
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Hyponatremia, Cyanosis, Decreased response to growth hormone stimulation test, Hypothermia... ORPHA:293987
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity ORPHA:2377
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, I... ORPHA:79240
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Hypothermia OMIM:614498
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T... ORPHA:91
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th... OMIM:218700
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Summitt Syndrome
Obesity OMIM:272350
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... ORPHA:90301
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased... ORPHA:264580
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Hypothermia, Hypoalbuminemia, Hyperalaninemia, Failure to thrive OMIM:618329
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... OMIM:609069
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Flexion contracture, Steatorrhea, Postprandial hyperglycemia, Arthrogryposis mul... ORPHA:440713
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Orthostatic Hypotension 1
Intermittent hypothermia, Reduced circulating prolactin concentration, Increased blood urea nitro... OMIM:223360
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Werner Syndrome
Lipoatrophy, Lipodystrophy, Insulin resistance, Thyroid carcinoma, Hypogonadism, Type II diabetes... ORPHA:902
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypothermia, Hypoalbuminemia,... OMIM:251880
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty,... ORPHA:819
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia, Steatorrhea OMIM:602579
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip... OMIM:616541
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac... OMIM:618493
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... ORPHA:813
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Hypogonadism, Obesity OMIM:615996
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy ORPHA:263501
Immunodeficiency 61
Obesity, Recurrent fever OMIM:300310
Atypical Werner Syndrome
Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus, Abnormal circulating lep... ORPHA:79474
Idiopathic Steroid-Resistant Nephrotic Syndrome
Fever, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid co... ORPHA:567548
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
48,Xxyy Syndrome
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Type... ORPHA:10
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Increased L... OMIM:278000
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... ORPHA:3008
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Nonketotic hypoglycemia, Hypothermia, Hyperammonemia, Weight loss, Recurrent hypoglycemia,... ORPHA:20
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp... ORPHA:79445
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Patent ductus arteriosus, Obesity ORPHA:171839
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Whipple Disease
Fever, Hyponatremia, Cachexia, Insulin resistance, Hypothyroidism ORPHA:3452
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur... ORPHA:99885
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... OMIM:219090
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Meningococcal Meningitis
Fever, Elevated circulating C-reactive protein concentration, Hypothermia ORPHA:33475
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
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
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Trisomy 5P
Obesity ORPHA:1742
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circula... ORPHA:90041
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Monosomy 13Q34
Insulin resistance, Hypercalcemia, Obesity ORPHA:96168
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hypoglycemia, Hypothermia, Patent ductus arteriosus, Flexion contracture,... ORPHA:17
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity OMIM:614202
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Solitary Fibrous Tumor
Fever, Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatem... ORPHA:2126
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Patent ductus arteriosus, Gl... OMIM:600001
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Nephronophthisis 15
Obesity OMIM:614845
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Morm Syndrome
Truncal obesity ORPHA:75858
Carpenter Syndrome
Umbilical hernia, Patent ductus arteriosus, Obesity ORPHA:65759
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Obesity OMIM:615630
Chung-Jansen Syndrome
Obesity OMIM:617991
Schaaf-Yang Syndrome
Failure to thrive in infancy, Flexion contracture, Obesity, Hypogonadism, Camptodactyly, Arthrogr... OMIM:615547
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... OMIM:270450
Congenital Enterovirus Infection
Fever, Hyperammonemia, Hypoalbuminemia, Hypothermia ORPHA:292
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hypothermia, Hyperammonemia, Hyperhomocy... ORPHA:79282
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Obesity, Truncal obesity, ... OMIM:209900
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... ORPHA:91355
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... ORPHA:3464
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia OMIM:618775
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Gitelman Syndrome
Maternal diabetes, Hypomagnesemia, Insulin resistance, Hypermagnesemia, Parathyroid adenoma, Gluc... ORPHA:358
Clark-Baraitser Syndrome
Obesity OMIM:617752
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine n... ORPHA:404443
Menkes Disease
Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, Hernia, Umbilical hernia, ... ORPHA:565
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
19P13.12 Microdeletion Syndrome
Precocious puberty, Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita, Hypothyroidism ORPHA:254346
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Alexander Disease
Diabetes mellitus, Hypothermia, Precocious puberty, Failure to thrive, Hypothyroidism ORPHA:58
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Baralle-Macken Syndrome
Obesity OMIM:619255
Retinal Dystrophy And Obesity
Obesity OMIM:616188
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Urban-Rogers-Meyer Syndrome
Hypogonadism, Flexion contracture of toe, Camptodactyly of finger, Obesity ORPHA:3409
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Achilles tendon contracture, Elevated circulating creatine kinase concentration,... OMIM:615418
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... ORPHA:125
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Central adre... ORPHA:488632
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Thyroiditis, Hypoglycemic seizures, Xanthelas... ORPHA:79259
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli... ORPHA:96263
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Pseudohypoparathyroidism, Obesity ORPHA:464288
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
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
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Flexion contracture, Wrist flexion contracture, Obesity OMIM:300055
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit ORPHA:3041
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Down Syndrome
Umbilical hernia, Hypothyroidism, Type II diabetes mellitus, Obesity ORPHA:870
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Recurrent hypoglycemia, Neonatal death, Hyperglycemia, Failure to... OMIM:124000
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
Atelis Syndrome 2
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... OMIM:620185
Neuroleptic Malignant Syndrome
Fever, Hyponatremia, Elevated circulating creatine kinase concentration, Hypothermia, Hyperkalemi... ORPHA:94093
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Truncal obesity, Congenital diaphragmatic hernia ORPHA:284180
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Carpenter Syndrome 1
Omphalocele, Precocious puberty, Patent ductus arteriosus, Spina bifida occulta, Obesity, Camptod... OMIM:201000
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity OMIM:600430
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Generalized Pustular Psoriasis
Fever, Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, ... ORPHA:247353
Wagr Syndrome
Obesity ORPHA:893
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor ORPHA:363618
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Male hypogonadism, Obesity OMIM:619471
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Primary adrenal insufficienc... ORPHA:275761
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Obesity, Hypergl... ORPHA:444077
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Abnormality of the hypothalamus-pituit... ORPHA:3157
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Abnormal dental enamel morphology, Obesity ORPHA:439822
Ethylene Glycol Poisoning
Cyanosis, Hyperkalemia, Hypocalcemia, Hypothermia ORPHA:31826
Scorpion Envenomation
Fever, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase MB is... ORPHA:466677
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
White-Sutton Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Obesity, Hypoglycemic seizures, Failur... OMIM:616364
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Precocious puberty, Flexion contracture, Increased body weight, Absence of pu... ORPHA:398069
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Obesity ORPHA:261222
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Hypogonadism, Delayed puberty OMIM:300354
Congenital-Onset Steinert Myotonic Dystrophy
Patent ductus arteriosus, Obesity, Decreased body weight ORPHA:589821
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased respons... ORPHA:470
Retinitis Pigmentosa 51
Obesity OMIM:613464
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Failure to thrive, Increased serum leptin ORPHA:778
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Paradoxical increas... ORPHA:96253
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Delayed... ORPHA:251004
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Inguinal hernia, Hyperparathyroidism, Hypercholesterolemia, Abnormal dental enamel ... ORPHA:534
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hypothermia, Low plasma citrulline, Hyperalaninemia, Failure to thrive ORPHA:255210
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Laurence-Moon Syndrome
Obesity OMIM:245800
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Marburg Hemorrhagic Fever
Fever, Hypoglycemia, Elevated circulating creatine kinase concentration, Hypothermia, Hyperamylas... ORPHA:99826
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature ORPHA:2563
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Flexion contracture, Hypothermia ORPHA:99027
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Small for gestational age, Hyperammonemia, Hyperglycemia, Failure ... OMIM:220111
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Angelman Syndrome Due To A Point Mutation
Obesity, Heat intolerance ORPHA:411511
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Joubert Syndrome 37
Obesity OMIM:619185
Megalencephaly
Truncal obesity ORPHA:2477
Shox-Related Short Stature
Obesity ORPHA:314795
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... OMIM:615926
2Q37 Microdeletion Syndrome
Umbilical hernia, Obesity, Congenital diaphragmatic hernia ORPHA:1001
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity, Hypogonadism ORPHA:85293
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
Neutral Lipid Storage Myopathy
Diabetes mellitus, Hypertriglyceridemia, Obesity, Pineal cyst, Abnormal circulating creatine kina... ORPHA:98908
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Patent ductus arteri... ORPHA:369837
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
Congenital Myopathy 9A
Obesity OMIM:618822
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Intermittent hypothermia OMIM:608643
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Rabin-Pappas Syndrome
Hyponatremia, Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Umbilical hernia, Hypoglycemia, Obesity OMIM:301066
Ulnar-Mammary Syndrome
Abnormality of temperature regulation, Camptodactyly of finger, Obesity, Delayed puberty, Hernia ... ORPHA:3138
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... ORPHA:198
Immunodeficiency 47
Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration OMIM:300972
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin OMIM:614008
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... ORPHA:740
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity, Heat intolerance ORPHA:98794
Man1B1-Cdg
Truncal obesity ORPHA:397941
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypogonadism, Obesity ORPHA:110
Desbuquois Dysplasia 1
Obesity OMIM:251450
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Tall stature, Congenital d... ORPHA:116
Liver Disease, Severe Congenital
Hyperalaninemia, Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentrat... OMIM:619991
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98907
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Obesity, Dentinogenesis imperfecta, Type I diabetes mellitus OMIM:619269
Distal Deletion 12Q
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Patent duc... ORPHA:96149
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Decreased body weight, Enamel hypoplasia, Amelogenesis imperfecta OMIM:619229
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity, Camptodactyly OMIM:301039
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
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia, Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Paten... ORPHA:438213
Achondroplasia
Hypoxemia, Obesity ORPHA:15
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Elevated circulating creatine k... OMIM:309000
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Sarcoidosis
Fever, Hyperthyroidism, Diabetes insipidus, Scarring, Hypothermia, Hypercalcemia, Weight loss, Ab... ORPHA:797
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... OMIM:216550
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, D... ORPHA:478
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Alagille Syndrome 1
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Papillary thyroid carcinoma OMIM:118450
Joubert Syndrome 8
Occipital encephalocele, Obesity OMIM:612291
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Kleefstra Syndrome
Obesity, Hernia ORPHA:261494
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:468678
Angelman Syndrome
Delayed menarche, Precocious puberty in females, Obesity ORPHA:72
Cohen Syndrome
Failure to thrive in infancy, Obesity, Delayed puberty ORPHA:193
Angelman Syndrome
Obesity OMIM:105830
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Spina bi... ORPHA:567
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Kleefstra Syndrome 1
Obesity OMIM:610253
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity, Patent ductus arteriosus ORPHA:2637
Pmm2-Cdg
Fever, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated circul... ORPHA:79318
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Chops Syndrome
Patent ductus arteriosus, Obesity OMIM:616368
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:96121
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Hypothermia, Corneal scarring, Atypical scarring of skin, Unexplained fevers, Recurren... ORPHA:642
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Abnormality of the pineal gland, Obesity, Heat intolerance ORPHA:369950
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulat... OMIM:619534
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating parathyroid hormone ... OMIM:188400
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Hypogonadism, Obesity OMIM:614231
Alström Syndrome
Hypertriglyceridemia, Dorsocervical fat pad, Decreased response to growth hormone stimulation tes... ORPHA:64
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Branchial anomaly, Obesity ORPHA:466950
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Fever, Overweight, Obesity, Hyperbilirubinemia, Decreased body weight, Failure to thrive, Delayed... OMIM:619475
Carney Complex
Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma,... ORPHA:1359
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Wagro Syndrome
Obesity OMIM:612469
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent... ORPHA:70591
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Obesity, Pineal cyst, Truncal obesity, Fai... OMIM:615873
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Patent ductu... ORPHA:529962
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Myhre Syndrome
Patent ductus arteriosus, Small for gestational age, Obesity, Camptodactyly OMIM:139210
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Obesity OMIM:618653
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum... ORPHA:1772
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Williams-Beuren Syndrome
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Flexion contract... OMIM:194050
Williams Syndrome
Inguinal hernia, Hypogonadotropic hypogonadism, Abnormal dental enamel morphology, Hypercalcemia,... ORPHA:904
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Xylt1-Cdg
Truncal obesity ORPHA:370930
Adnp Syndrome
Umbilical hernia, Inguinal hernia, Truncal obesity ORPHA:404448
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Hyperammonemia, Truncal obesity, Fai... OMIM:222700
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity, Flexion contracture, Limb joint contracture OMIM:301072
1P36 Deletion Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Obesity, Hypogonadism, Failure to thrive, Hypo... ORPHA:1606
Witteveen-Kolk Syndrome
Branchial fistula, Inguinal hernia, Small for gestational age, Decreased response to growth hormo... OMIM:613406
Rubinstein-Taybi Syndrome 1
Small for gestational age, Premature thelarche, Spina bifida, Patent ductus arteriosus, Flexion c... OMIM:180849
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Carpenter Syndrome 2
Patent ductus arteriosus, Obesity, Knee flexion contracture, Camptodactyly, Umbilical hernia OMIM:614976
Retinitis Pigmentosa 74
Obesity OMIM:616562
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Abdominal obesity, Flexion contracture, Hypoplasia of the ovary OMIM:619321
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Keloids, Patent ductus arteriosus, Failure to thrive, Obesity ORPHA:353281
Monosomy 22Q13.3
Umbilical hernia, Obesity ORPHA:48652
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Patent ductus arteriosus, Obesity, Congenital hypothyroidism, Camptodact... OMIM:607872
Tako-Tsubo Cardiomyopathy
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration ORPHA:66529
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Pseudohypoparathyroidism, Obesity OMIM:617157
Primrose Syndrome
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circulating alpha-fe... OMIM:259050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Patent ductus arteriosus, Obesity, Corneal scarring, Keloids, Failure to thrive ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Patent ductus arteriosus, Obesity, Corneal scarring, Keloids, Failure to thrive ORPHA:353277
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Truncal obesity, Camptodactyly, Truncus arteriosus, Failure to thrive OMIM:612474
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Cornelia De Lange Syndrome
Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia, Delayed puberty ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypogonadism, Obesity OMIM:309580
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Flexion ... OMIM:601803
Familial Cerebral Saccular Aneurysm
ORPHA:231160

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 Angptl6

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 Angptl6.

No publications found that use IMPC mice or data for Angptl6.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Angptl6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Angptl6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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