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Gene: Gpr61 MGI:2441719

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Gene Summary

Name:
G protein-coupled receptor 61
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Gpr61em1(IMPC)Bay HOM Early adult 5.63×10-09
decreased bone mineral density Gpr61em1(IMPC)Bay HOM Early adult 7.39×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Eye Morphology

VIP of left fundus

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of right fundus

15 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

VIP of right eye

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Gpr61 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 Gpr61 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
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
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset ... ORPHA:324575
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia, Obesity, Overgrowth, Hepatic steatosis OMIM:620195
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypoglycemi... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Increased C-peptide level, Large for gestational age, Hyperinsul... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Large for gestational age, Hypogl... ORPHA:276556
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity, Tall stature OMIM:618406
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
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
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic isl... ORPHA:276608
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Acute pancreat... OMIM:608594
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Tremor, Dystonia OMIM:615924
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... OMIM:222100
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Hypertriglyce... OMIM:269700
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop... ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... OMIM:615980
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Obesity, Limb dystonia OMIM:620270
Huntington Disease
Dystonia, Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating chole... ORPHA:399
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Decreased HDL cho... OMIM:151660
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior, Overfriendliness OMIM:618010
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, Increased body weight, ... ORPHA:398069
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... OMIM:615547
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir... OMIM:300942
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Osteoporosis
Osteoporosis OMIM:166710
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hepatic fibrosis, Hypoalbu... ORPHA:247585
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... ORPHA:436182
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Asympt... ORPHA:35878
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... ORPHA:79237
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... ORPHA:525731
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia, Ta... ORPHA:2849
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypocalcem... OMIM:606407
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... ORPHA:79083
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... ORPHA:2348
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo... OMIM:182290
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Polypha... ORPHA:251004
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Wei... ORPHA:95427
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Narcolepsy Type 1
Obesity ORPHA:2073
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... OMIM:300148
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... ORPHA:280365
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hypoalbuminemia, H... ORPHA:79319
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... OMIM:246200
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Tremor, Obesity, Dystonia, Lipoma ORPHA:480907
Man1B1-Cdg
Truncal obesity, Polyphagia, Resting tremor ORPHA:397941
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... OMIM:203800
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased HDL cholesterol concentration, Hyp... ORPHA:412
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... ORPHA:2088
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ... ORPHA:890
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... ORPHA:369
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat... ORPHA:3191
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Mehmo Syndrome
Diabetes mellitus, Agitation, Obesity ORPHA:85282
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Hypercholesterolemi... ORPHA:69663
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu... OMIM:619013
Luscan-Lumish Syndrome
Overgrowth, Polyphagia, Obesity, Aggressive behavior OMIM:616831
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... ORPHA:264580
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tremor, Tongue thrusting, Obes... ORPHA:72
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... OMIM:617591
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
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
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism ORPHA:261483
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyper... OMIM:602579
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... ORPHA:189427
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyponatremia, Decreased response to growth hormone stimulation tes... ORPHA:293987
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated... ORPHA:79240
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Semilobar Holoprosencephaly
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:220386
Alobar Holoprosencephaly
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:93926
Lobar Holoprosencephaly
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:93924
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate... OMIM:603233
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... ORPHA:94086
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Tremor, Flexion contracture, Obesity, Choreoathetosis, Br... OMIM:300055
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Hypertriglyceridemia, Panniculitis, Increased circulating ferritin concentration OMIM:618398
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Dystonia OMIM:616756
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... ORPHA:1414
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Dysto... ORPHA:778
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Summitt Syndrome
Obesity OMIM:272350
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
48,Xxyy Syndrome
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Tremor, Obesi... ORPHA:10
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly OMIM:613101
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, ... ORPHA:819
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosple... ORPHA:444490
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior OMIM:617991
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Microtriplication 11Q24.1
Hyperlipidemia, Obesity, Bruxism ORPHA:289522
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... OMIM:617253
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity, Aggressive behavior OMIM:614202
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin... OMIM:600430
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
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
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... ORPHA:71
Bardet-Biedl Syndrome 19
Hepatic steatosis, Hypogonadism, Obesity OMIM:615996
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp... ORPHA:79445
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperactivity, Precocious puberty, Hyperlipidemia, Obesity, Self-injurious beh... ORPHA:254346
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... ORPHA:769
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... ORPHA:905
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abno... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia, Hyperch... OMIM:616267
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H... ORPHA:470
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Ja... OMIM:603553
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
H Syndrome
Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Hepatosplenomegaly, Camptodactyly, Hypogo... ORPHA:168569
Trisomy 5P
Obesity ORPHA:1742
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Hand tremor, Truncal obesity, Hypogonadism, Flexion contract... ORPHA:3041
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pan... ORPHA:98908
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypo... ORPHA:73272
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... OMIM:270450
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... ORPHA:412035
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Adnp Syndrome
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper... ORPHA:404448
Baralle-Macken Syndrome
Obesity, Dystonia OMIM:619255
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Overweight, Obesity OMIM:617406
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Weaver Syndrome
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... OMIM:277590
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Senior-Loken Syndrome 9
Hypogonadism, Hepatic fibrosis, Cholestasis, Obesity OMIM:616629
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Decreased serum iron, Overweight, Repetitive compulsive behavior, Flexion cont... ORPHA:391372
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... OMIM:156200
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... OMIM:619418
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosp... ORPHA:275761
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Left ve... OMIM:615418
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Hypoalbuminemia, Adrenal insufficiency, Hypothy... OMIM:617575
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth ORPHA:199276
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... ORPHA:90041
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... ORPHA:508
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity, Dystonia ORPHA:464282
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308700
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Aggressive behavior, Tremor, Abdominal obesity, Hypogonadism, Delayed puberty OMIM:300354
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join... OMIM:620141
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity, Hand tremor ORPHA:589905
Ppoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97278
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:26793
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Decreased HDL cholesterol concentrati... ORPHA:77293
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:256040
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... OMIM:615873
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Somatostatinoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97283
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... ORPHA:540
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... OMIM:618430
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Tremor, Tongue thrusting, Obesity, Inappropriate laughte... ORPHA:98794
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... ORPHA:411511
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Tremor, Obesity, Hypogonadism, Type II diabet... ORPHA:96263
Vipoma
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live... ORPHA:97282
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Tatton-Brown-Rahman Syndrome
Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm ORPHA:404443
Ataxia-Oculomotor Apraxia Type 4
Obesity, Dystonia ORPHA:459033
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Obesity, Tall stature OMIM:618089
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... ORPHA:91355
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention deficit hyperactivity ... OMIM:619680
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... OMIM:219090
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Tremor, O... ORPHA:85293
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior ORPHA:251028
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Attention deficit hyperactivity disorder, Obesity ORPHA:261222
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... OMIM:277700
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Obesity, Flexion contracture of toe ORPHA:3409
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Insulin resistanc... ORPHA:91
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... ORPHA:363618
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnormality of the hypotha... ORPHA:3157
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Precocious puberty, Tremor, Obesity, Attention deficit hyperact... OMIM:619312
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hepatocellular carcinoma, Hy... ORPHA:79259
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Carpenter Syndrome
Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Joint hypermobility, Impulsivity OMIM:300143
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia, Attention deficit hyperactivi... ORPHA:284180
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Choreoathetosis, Attention deficit hyperactivity disord... ORPHA:261197
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity, Action tremor ORPHA:93952
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Obesity, Aggressive behavior OMIM:620191
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia, Hand tremor OMIM:604484
Atypical Werner Syndrome
Hepatic steatosis, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Lipoatrophy, Abnor... ORPHA:79474
Grfoma
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... ORPHA:97261
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large... OMIM:616026
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
1P36 Deletion Syndrome
Hepatic steatosis, Camptodactyly of finger, Hypothyroidism, Abnormality of the spleen, Polyphagia... ORPHA:1606
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Woodhouse-Sakati Syndrome
Streak ovary, Dystonia, Decreased response to growth hormone stimulation test, Insulin-resistant ... ORPHA:3464
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Aggressive behavior OMIM:619056
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Overweight, Tremor, Abnormal repetitive ma... ORPHA:457240
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact... OMIM:301039
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Overgrowth, Umbilical hernia, Enlarged kidney OMIM:618272
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Dystonia, Hypercholes... OMIM:277460
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... OMIM:615926
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth OMIM:605309
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi... OMIM:619313
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:618183
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Pseudohypoparathyroidism, Obesity ORPHA:464288
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ... ORPHA:2126
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive, Flexion contracture OMIM:618201
Joubert Syndrome 37
Hepatomegaly, Obesity OMIM:619185
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Tremor, Ob... ORPHA:478
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl... OMIM:307030
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus ORPHA:31825
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Decreased body weight, Obesity, Dysphagia ORPHA:589821
Wagr Syndrome
Obesity ORPHA:893
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Hepatosplenomegaly,... OMIM:301066
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Intellectual Developmental Disorder, X-Linked 12
Tremor, Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity OMIM:615994
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis, Obesity ORPHA:110
White-Sutton Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Hypoglycemic seizur... OMIM:616364
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia OMIM:610543
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly OMIM:619802
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... ORPHA:536532
Den Hoed-De Boer-Voisin Syndrome
Overweight, Tremor, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abno... OMIM:619229
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:1001
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Laurence-Moon Syndrome
Obesity OMIM:245800
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi... OMIM:619127
Retinitis Pigmentosa 51
Obesity OMIM:613464
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity, Aggressive behavior OMIM:620250
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Obesity, Compulsive behaviors OMIM:618443
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity ORPHA:369837
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Angelman Syndrome
Hyperactivity, Limb tremor, Paroxysmal bursts of laughter, Obesity OMIM:105830
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip... OMIM:616541
Carpenter Syndrome 1
Omphalocele, Precocious puberty, Obesity, Polysplenia, Camptodactyly, Umbilical hernia, Joint con... OMIM:201000
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity ORPHA:96168
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ... OMIM:619991
White-Sutton Syndrome
Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav... ORPHA:468678
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Down Syndrome
Umbilical hernia, Hypothyroidism, Type II diabetes mellitus, Obesity ORPHA:870
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Megalencephaly
Truncal obesity ORPHA:2477
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... ORPHA:813
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... OMIM:118450
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... ORPHA:96149
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Ascites, Hypoalbuminemia OMIM:603278
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Obesity, Congenital hypothyroidism,... OMIM:607872
Shox-Related Short Stature
Obesity ORPHA:314795
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature ORPHA:2563
Congenital Myopathy 9A
Obesity OMIM:618822
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99226
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Hernia, Abnormal repetitive mannerisms, Se... ORPHA:261494
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, Precocious puberty, ... ORPHA:845
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Large for gestational age, Precocious puberty, Self-injurious behavior, Overgrow... ORPHA:261652
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... ORPHA:158048
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior OMIM:610253
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Failure to thrive, Exaggerated startle response OMIM:616881
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased re... ORPHA:3455
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... ORPHA:273
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Flexion contracture, Hypogonadis... ORPHA:500055
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Tremor, Splenomegaly, Jaundice... ORPHA:167
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Overweight, Obesity, Dysphagia ORPHA:2822
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin OMIM:614008
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy... OMIM:264090
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Obesity, Male hypogonadism, Pancreatitis OMIM:619471
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Cardiomegaly, Large for gestational age, Congenital diaphragmatic hernia, ... ORPHA:116
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Dy... OMIM:617301
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Histidinemia
Hyperactivity ORPHA:2157
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Postural tremor, Splenomegaly, Micronodular cirrhosis, Flex... OMIM:301072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Hepatic steatosis, Abnormal repetitive mannerisms, Intention tremor, ... OMIM:619475
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Abnormality of the diencephalon, Camptodactyly of finger ORPHA:2570
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Congenital hypothyroidism, Contractures of the large joints, Dyspha... OMIM:617527
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia ORPHA:79477
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Sandhoff Disease, Infantile Form
Exaggerated startle response, Abnormal thalamic MRI signal intensity, Hepatosplenomegaly ORPHA:309155
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Xanth... OMIM:232200
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Sotos Syndrome
Tall stature, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowth, Attent... OMIM:117550
Rabin-Pappas Syndrome
Hyponatremia, Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Hypothyroidism ORPHA:3198
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... OMIM:216550
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Overgrowth OMIM:300607
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Joint contracture, Failure to thrive, Exaggerated startle response OMIM:617864
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Desbuquois Dysplasia 1
Obesity OMIM:251450
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... OMIM:232220
Hyperekplexia 1
Umbilical hernia, Inguinal hernia, Exaggerated startle response OMIM:149400
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Contractures of the large joints, Dystonia, Impaired oropharyngeal ... ORPHA:521426
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behaviors, Abnormal... ORPHA:369950
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus OMIM:619269
Bardet-Biedl Syndrome 12
Hypogonadism, Abdominal mass, Obesity OMIM:615989
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... OMIM:616078
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Ulnar-Mammary Syndrome
Camptodactyly of finger, Hernia of the abdominal wall, Obesity, Delayed puberty ORPHA:3138
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Inguinal hernia, Obesity OMIM:614947
Tangier Disease
Left ventricular hypertrophy, Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly ORPHA:31150
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit hyperac... ORPHA:466950
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Carney Complex
Neoplasm of the pancreas, Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Fol... ORPHA:1359
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus OMIM:184850
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... ORPHA:125
Digeorge Syndrome
Hepatic steatosis, Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating p... OMIM:188400
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm... OMIM:222700
Achondroplasia
Obesity ORPHA:15
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Agitation, Truncal titubation OMIM:618056
Cohen Syndrome
Failure to thrive in infancy, Obesity, Delayed puberty ORPHA:193
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Abnormal repetitive mannerisms, Obesity OMIM:618653
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Obesity, Hypogonadism OMIM:614231
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Abnormal odontoid tissue morphology, Hepatosplenomegaly ORPHA:79255
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder ORPHA:2637
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody... ORPHA:79318
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Large for gestational age, Overgrowth, Dysphagia, Hepatoblastoma ORPHA:254519
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Exaggerated startle response, Cardiomegaly OMIM:268800
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:466943
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Pancreatic islet-cell h... OMIM:267000
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Abnormality of thyroid physiology, Hyperlipidemia, Failure to thrive, ... ORPHA:1830
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Splenome... ORPHA:567
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic steatosis OMIM:619321
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Chops Syndrome
Splenomegaly, Obesity OMIM:616368
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... ORPHA:529962
White-Kernohan Syndrome
Hypothyroidism, Obesity, Attention deficit hyperactivity disorder OMIM:619426
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Elevated circulating creatine kinase concentra... OMIM:253800
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353281
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep... OMIM:232240
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia ORPHA:48652
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Williams Syndrome
Abnormal circulating lipid concentration, Inguinal hernia, Hypogonadotropic hypogonadism, Hyperca... ORPHA:904
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration ORPHA:439232
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Williams-Beuren Syndrome
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Portal hypertens... OMIM:194050
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum... ORPHA:1772
Primrose Syndrome
Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circul... OMIM:259050
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... ORPHA:740
Retinitis Pigmentosa 74
Obesity OMIM:616562
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Witteveen-Kolk Syndrome
Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s... OMIM:613406
Rubinstein-Taybi Syndrome 1
Accessory spleen, Hyperactivity, Small for gestational age, Premature thelarche, Impulsivity, Fle... OMIM:180849
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia, Decreased serum iron, Abnormality of the endocrine system... ORPHA:438213
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... ORPHA:353277
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent... ORPHA:70591
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Myhre Syndrome
Small for gestational age, Obesity, Camptodactyly OMIM:139210
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Fabry Disease
Anorexia, Hyperlipidemia, Delayed puberty, Left ventricular hypertrophy, Abnormal circulating lip... ORPHA:324
Tako-Tsubo Cardiomyopathy
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration ORPHA:66529
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Pseudohypoparathyroidism, Obesity OMIM:617157
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repe... OMIM:612474
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Hellp Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:244242
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Compulsive behaviors, Attention deficit hyperac... ORPHA:199
Carpenter Syndrome 2
Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture OMIM:614976
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Norrie Disease
Failure to thrive, Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hypera... ORPHA:649
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Ascites, Hypoalbuminemia ORPHA:567546
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Hypogonadism, Paroxysmal bursts of laughter, Obesity OMIM:309580
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Dysphagia OMIM:618367
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp... OMIM:601803
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665

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 Gpr61

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 Gpr61.

No publications found that use IMPC mice or data for Gpr61.

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MGI Allele Allele Type Produced
Gpr61em1(IMPC)Bay Exon Deletion Mice
Gpr61tm282776(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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