Gene Summary

Name:
neuropeptide Y receptor Y5
Synonyms:
Y5R

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Npy5rem1(IMPC)H HOM Early adult 9.80×10-10
increased circulating HDL cholesterol level Npy5rem1(IMPC)H HOM   Early adult 6.12×10-05
decreased lean body mass Npy5rem1(IMPC)H HOM Early adult 4.15×10-07
increased circulating alkaline phosphatase level Npy5rem1(IMPC)H HOM   Early adult 2.39×10-05
decreased bone mineral density Npy5rem1(IMPC)H HOM Early adult 3.86×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Npy5r mutations

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

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

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

The table below shows human diseases predicted to be associated to Npy5r by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... ORPHA:71529
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age OMIM:248100
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Tall stature OMIM:618406
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71526
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia ORPHA:329249
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Large for gestational age OMIM:617119
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Leptin Deficiency Or Dysfunction
Obesity, Abnormal eating behavior, Polyphagia OMIM:614962
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Cholestasis, Polyphagia OMIM:609734
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal obesity OMIM:618160
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Exc... ORPHA:324575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Lipodystrophy, Abdominal obesity OMIM:615980
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Carcinoma Of Esophagus
Weight loss, Dysphagia, Obesity ORPHA:70482
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Summitt Syndrome
Obesity OMIM:272350
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Diabetes mellitus, Insulin resistance ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:276580
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia OMIM:610947
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Polyphagia OMIM:614963
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia ORPHA:177910
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... ORPHA:276575
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Narcolepsy Type 1
Obesity ORPHA:2073
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Hepatic steatosis OMIM:615238
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Failure to thrive, Increased circulating corticosterone ... OMIM:610600
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Glycogen Storage Disease Vi
Hypercholesterolemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Decreased... ORPHA:79085
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Polyphagia, Large for gestational age ORPHA:276556
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Obesity OMIM:615703
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... OMIM:604367
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Bardet-Biedl Syndrome 9
Obesity, Polydipsia, Truncal obesity, Polyphagia OMIM:615986
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia ORPHA:411515
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Failure to thrive, Cirrhosis, Cholestasis, Hepatic failure, Ele... OMIM:617156
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Failure to thrive, Abno... ORPHA:556037
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Central Precocious Puberty
Overgrowth, Increased circulating gonadotropin level, Isosexual precocious puberty, Premature the... ORPHA:759
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, Insulin-resista... ORPHA:435660
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Temple Syndrome
Obesity, Small for gestational age, Polyphagia ORPHA:254516
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy OMIM:613877
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... ORPHA:435651
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Failure to thrive, Abno... ORPHA:556030
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Sple... OMIM:612526
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Graves Disease, Susceptibility To, 1
Weight loss, Polyphagia OMIM:275000
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Schaaf-Yang Syndrome
Failure to thrive in infancy, Polyphagia, Arthrogryposis multiplex congenita, Flexion contracture... OMIM:615547
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Cortisone Reductase Deficiency 1
Obesity, Precocious puberty OMIM:604931
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Immunodeficiency 61
Obesity OMIM:300310
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:141333
Pick Disease Of Brain
Polyphagia OMIM:172700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Estrogen Resistance Syndrome
Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Absence of second... ORPHA:785
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Frontotemporal Dementia
Polyphagia OMIM:600274
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... OMIM:301045
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... ORPHA:263455
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Cholecystitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstr... ORPHA:69663
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Hepatic steatosis, Choleste... ORPHA:209902
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy, Adipose tiss... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:151660
Perlman Syndrome
Femoral hernia, Inguinal hernia, Hyperinsulinemia, Tall stature ORPHA:2849
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Decreased liver function, Hepatic steatosis, Cholestasis, Ele... OMIM:614300
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Huntington Disease
Polyphagia, Decreased body mass index, Choking episodes, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:619048
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Tall stature, Reduced intrathoracic adipose tissue, Lipodystrophy, Redu... OMIM:608594
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Truncal obesity, Failure to thrive ORPHA:261483
Nephronophthisis 15
Obesity, Hepatic failure OMIM:614845
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Male hypogonadism, Obesity, Decreased response to growth... OMIM:300148
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy ORPHA:79087
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... ORPHA:905
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... ORPHA:2298
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis ORPHA:26792
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610489
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Polyphagia, Tall stature, Reduced intrathoracic adipose tissue, Lipodystrophy, Redu... OMIM:269700
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Dysphagia, Elevated hepatic transaminase OMIM:264470
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Hypogonadism, Abdominal obes... OMIM:300869
Galactokinase Deficiency
Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolemia, Hypergonadotrop... ORPHA:79237
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia OMIM:606407
Glucocorticoid Deficiency 1
Tall stature, Failure to thrive, Recurrent hypoglycemia, Increased circulating ACTH level, Decrea... OMIM:202200
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Luscan-Lumish Syndrome
Obesity, Overgrowth, Polyphagia OMIM:616831
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Morm Syndrome
Truncal obesity ORPHA:75858
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:610717
Ddost-Cdg
Failure to thrive, Hepatic steatosis, Lipodystrophy, Elevated hepatic transaminase ORPHA:300536
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis ORPHA:139491
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, In... OMIM:248370
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Impaire... OMIM:614450
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Adipose tissue loss, Precocious puberty, Pancreatic islet-ce... OMIM:246200
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Pediatric-Onset Graves Disease
Hepatomegaly, Polydipsia, Polyphagia, Failure to thrive, Splenomegaly, Elevated hepatic transamin... ORPHA:525731
Mental Retardation With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Increased body weight, Jaundice ORPHA:890
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Failure to thrive, Depletion of mitochondrial DNA in liver... OMIM:251880
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Failure to thrive, Splenomegaly, ... OMIM:278000
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive,... OMIM:256810
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Precocious puberty ORPHA:254531
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss, Cholestasis, Polyphagia ORPHA:95427
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Truncal obesity, Amelogenesis imperfecta, Obesity, Inguinal hernia OMIM:618363
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Chromosome Xq26.3 Duplication Syndrome
Overgrowth, Polyphagia, Tall stature OMIM:300942
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:614582
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Trisomy 5P
Obesity ORPHA:1742
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Dysphagia, Decreased liver function ORPHA:70472
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Fryns Macrocephaly
Knee flexion contracture, Truncal obesity OMIM:600302
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Cholestasis, Macrovesicular hepatic steatosis OMIM:614924
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Abnormal dental enamel morphology, Polyphagia ORPHA:251004
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Dorsocervica... OMIM:615830
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Obesity, Overweight OMIM:617406
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated ... OMIM:212140
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Truncal obesity OMIM:268050
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Eunuchoid habitus, Hypogonadism, Abnormality of the thyroid gland, Obe... ORPHA:2234
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Macrocephaly/Autism Syndrome
Obesity, Hepatomegaly, Splenomegaly OMIM:605309
Senior-Loken Syndrome 9
Obesity, Hepatic fibrosis, Cholestasis OMIM:616629
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Obesity, Lipoma ORPHA:480907
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Splenomegaly, Biliary ... ORPHA:567983
Blue Diaper Syndrome
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... ORPHA:94086
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Hepatic steatosis OMIM:606069
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus ORPHA:2377
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hypercholesterolemia, Diabetes mellitus, Hypothyroidism, Abn... ORPHA:77296
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Summitt Syndrome
Obesity, Camptodactyly of finger, Tall stature ORPHA:3210
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus, Hypertriglyceridemia OMIM:618620
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... ORPHA:96184
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... ORPHA:2235
Perrault Syndrome 4
Disproportionate tall stature, Hypoplasia of the ovary, Decreased serum estradiol, Increased circ... OMIM:615300
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Trisomy 18P
Polyphagia ORPHA:1715
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Precocious puberty ORPHA:254525
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Delayed... ORPHA:633
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypogonadism, Enamel hypoplasia, Pseudohypoparath... OMIM:612462
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Pancreatitis, Splenome... ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Ele... OMIM:619386
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Clark-Baraitser Syndrome
Obesity OMIM:617752
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Hepatomegaly, Decreased liver function, Hepatic steatosis, Eleva... ORPHA:42
Alstrom Syndrome
Diabetes insipidus, Insulin-resistant diabetes mellitus, Multinodular goiter, Truncal obesity, Hy... OMIM:203800
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Generalized lipodystrophy,... ORPHA:79086
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Sim1-Related Prader-Willi-Like Syndrome
Failure to thrive, Obesity, Abdominal obesity, Polyphagia ORPHA:398079
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Lipodystrophy, Hepatic steatosis, Flexion contracture, Elevated hepatic transaminase OMIM:615381
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic failure, Obesity OMIM:615630
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Lipodystrophy, Hypertriglyceridemia, Flexion contracture, ... OMIM:613327
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:280365
Chylomicron Retention Disease
Failure to thrive, Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic t... ORPHA:71
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia, Failure to thrive, Abdominal obesity, Flexion contracture, Increased body weight ORPHA:398069
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Enamel hypoplasia, Pseudohypoparath... OMIM:103580
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating follicle stimulating hormone level, Failure to thrive, Absence of secondary ... ORPHA:90796
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Baralle-Macken Syndrome
Obesity OMIM:619255
Angelman Syndrome
Obesity, Dysphagia, Polyphagia ORPHA:72
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Pancreatitis, Splenomegaly, Cirrhosis... ORPHA:79083
Primary Lipodystrophy
Lipodystrophy, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Lipoatrophy ORPHA:90970
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hepatocellular adenoma, Splen... ORPHA:264580
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Obesity ORPHA:98754
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia... ORPHA:71212
Prader-Willi Syndrome
Obesity, Failure to thrive in infancy, Abdominal obesity, Polyphagia OMIM:176270
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Failure to thrive, Hep... ORPHA:370
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Obesity ORPHA:98793
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Weight loss, Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic t... ORPHA:298
Rafiq Syndrome
Obesity, Flexion contracture, Truncal obesity OMIM:614202
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Disproportionate tall stature, Tall stature, Failure to thrive, Pancreatitis, Hepatic steatosis, ... OMIM:236200
Chung-Jansen Syndrome
Obesity OMIM:617991
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Obesity ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Obesity ORPHA:177901
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity OMIM:618822
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia OMIM:156200
48,Xxyy Syndrome
Type II diabetes mellitus, Tall stature, Abnormal dental enamel morphology, Hypergonadotropic hyp... ORPHA:10
Wagr Syndrome
Obesity ORPHA:893
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Decreased body mass index, Pancreatitis... ORPHA:247585
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Mental Retardation, Autosomal Recessive 13
Truncal obesity OMIM:613192
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Knee flexion contracture, Hepatic steatosis, H... ORPHA:79322
Prader-Willi-Like Syndrome
Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Obesity ORPHA:398073
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Abdominal obesity, Obesity, I... OMIM:219090
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Puberty and gonadal disorders ORPHA:464282
Porphyria Cutanea Tarda
Scarring, Elevated hepatic iron concentration, Hepatocellular carcinoma, Corneal scarring, Chroni... ORPHA:101330
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Cirrhosis, Hepatic steatosis, Elevated circula... OMIM:615486
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Lipodystrophy, Reduced subcutaneous adipose tissue,... OMIM:270450
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Disproportionate tall stature, Elevated ... ORPHA:95699
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Urban-Rogers-Meyer Syndrome
Hypogonadism, Obesity, Flexion contracture of toe, Camptodactyly of finger ORPHA:3409
7Q11.23 Microduplication Syndrome
Obesity, Inguinal hernia, Polyphagia, Congenital diaphragmatic hernia ORPHA:96121
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:769
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased circulatin... ORPHA:99832
Atkin-Flaitz Syndrome
Obesity, Tall stature OMIM:300431
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly OMIM:619013
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Megalencephaly
Truncal obesity ORPHA:2477
Prader-Willi Syndrome
Failure to thrive, Abdominal obesity, Polyphagia ORPHA:739
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, C... OMIM:300972
Adnp Syndrome
Polyphagia, Inguinal hernia, Truncal obesity, Oral-pharyngeal dysphagia, Umbilical hernia ORPHA:404448
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:255120
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Obesity, Abnormality of the endocrine system ORPHA:464288
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Truncal obesity, ... ORPHA:73272
Craniopharyngioma
Obesity, Polyphagia ORPHA:54595
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
Pseudohypoparathyroidism Type 1C
Obesity, Enamel hypoplasia, Polyphagia ORPHA:79444
Angelman Syndrome Due To A Point Mutation
Obesity, Dysphagia, Abnormal eating behavior ORPHA:411511
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Abnormality of circulating cortisol l... ORPHA:320
Gangliocytoma
Polyphagia ORPHA:251937
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity, Male hypogonadism, Flexion contracture, Wrist flexion contracture OMIM:300055
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Pseudohypoparathyroidism OMIM:617157
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Diabetes mellitus, Hypothyroidism, Obesity ORPHA:412
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Neoplasm of the thyroid gland, Hyperthyroidism, Abnormal calcium-phosphate regulating hor... ORPHA:457059
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis OMIM:231530
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
15Q24 Microdeletion Syndrome
Small for gestational age, Failure to thrive, Congenital diaphragmatic hernia, Hernia, Obesity, D... ORPHA:94065
Shox-Related Short Stature
Obesity ORPHA:314795
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia OMIM:610543
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:600649
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Abnormal subcutaneous fat tissue distribution,... OMIM:212065
19P13.12 Microdeletion Syndrome
Obesity, Arthrogryposis multiplex congenita, Hepatic steatosis ORPHA:254346
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Joubert Syndrome 37
Obesity, Hepatomegaly OMIM:619185
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Sheehan Syndrome
Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decreased circulat... ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Autoimmune Hepatitis
Hepatocellular carcinoma, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse hepatic ste... ORPHA:2137
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Hepatomegaly, Periportal fibrosis OMIM:201475
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis OMIM:210200
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity, Abnormal dental enamel morphology ORPHA:2180
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Weight loss, Hepatic steatosis, Hepatosplenome... OMIM:619487
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Failure to thrive, Weight lo... OMIM:619377
Leprechaunism
Central hypothyroidism, Fasting hypoglycemia, Insulin resistance, Failure to thrive, Reduced subc... ORPHA:508
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hypogonadism, Flexion contracture of digit, Reduced subcutaneous adipose tissue, Truncal obesity ORPHA:3041
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Failure to thrive in infancy, Hepatomegaly, Macronodular cirrho... OMIM:619418
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity OMIM:600122
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity, Streak ovary OMIM:194072
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
1P36 Deletion Syndrome
Abnormality of the spleen, Dysphagia, Polyphagia, Annular pancreas, Failure to thrive, Abnormalit... ORPHA:1606
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Small for gestational age, Elevated hepatic transaminase, Neopla... ORPHA:2959
Woodhouse-Sakati Syndrome
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hyp... ORPHA:3464
X-Linked Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98863
Familial Chylomicronemia Syndrome
Failure to thrive, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Acute pancreati... ORPHA:444490
Pseudohypoparathyroidism Type 1A
Obesity, Enamel hypoplasia, Polyphagia ORPHA:79443
Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:261
Cornelia De Lange Syndrome 5
Hypogonadism, Truncal obesity OMIM:300882
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98853
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Tall stature, Insulin resistance, Eunuchoid habitus, H... ORPHA:91
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Achilles tendon contracture OMIM:615418
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Obesity, Abnormal dental enamel morphology ORPHA:439822
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:261680
Bardet-Biedl Syndrome 17
Obesity, Polydipsia OMIM:615994
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Obesity ORPHA:34527
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Flexion contracture, Pancre... OMIM:616263
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase ORPHA:99901
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatic failure ORPHA:228305
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Abdominal obesity, Delayed puberty OMIM:300354
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly OMIM:614922
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive, Bile duct proliferation, Micro... OMIM:203700
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Umbilical hernia, Truncal obesity ORPHA:284180
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Diabetes mellitus, Glycosuria, Large for gestational age OMIM:616026
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Insulin resistance, Premature adrenarche, Recurrent hypog... ORPHA:813
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Smith-Magenis Syndrome
Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceridemia, Hypothyroidism, Obesity... ORPHA:819
Monosomy 13Q34
Obesity, Hepatic steatosis ORPHA:96168
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatitis, Hepat... OMIM:614921
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
X-Linked Non-Syndromic Intellectual Disability
Obesity, Small for gestational age ORPHA:777
Rett Syndrome
Failure to thrive, Increased serum leptin ORPHA:778
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepatic failure, Elevated h... ORPHA:541423
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity, Dysphagia, Abnormal eating behavior ORPHA:98794
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Obesity, Polydipsia, Polyphagia ORPHA:293987
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Failure to thrive, Obesity, Umbilical hernia OMIM:612938
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Anterior p... ORPHA:3157
Bardet-Biedl Syndrome
Obesity, Hepatic fibrosis ORPHA:110
Bardet-Biedl Syndrome 1
Insulin resistance, Truncal obesity, Hypogonadism, Nephrogenic diabetes insipidus, Diabetes melli... OMIM:209900
Ring Chromosome Y Syndrome
Obesity, Male hypogonadism, Streak ovary ORPHA:261529
Adiposis Dolorosa
Obesity, Hypothyroidism ORPHA:36397
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Helsmoortel-Van Der Aa Syndrome
Obesity, Decreased response to growth hormone stimulation test OMIM:615873
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Hypoglycemia OMIM:608624
Sitosterolemia 1
Hypercholesterolemia, Elevated circulating sitosterol concentration, Arthritis, Hyperapobetalipop... OMIM:210250
Atypical Werner Syndrome
Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin level, Insulin-re... ORPHA:79474
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Proportionate tall stature, Umbilical hernia, Obesity ORPHA:404443
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Momo Syndrome
Obesity, Overgrowth, Large for gestational age, Tall stature ORPHA:2563