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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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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

14 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Eye Morphology

VIP of right fundus

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A 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, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... 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
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept... OMIM:617885
Obesity And Hypopigmentation
Hyperinsulinemia, Overgrowth, Polyphagia, Obesity, Hepatic steatosis OMIM:620195
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Agitation, Diffuse pancreatic... ORPHA:276575
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Agitation, Hepatomegaly, Diffuse pancreatic isl... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatic steatosis, Generalized lipodystrophy, Hepatomegaly, Hypocalcemia, R... OMIM:612526
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Obesity, Hypogonadism OMIM:614962
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus, Lipodystrophy OMIM:246650
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Increased LDL c... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Tremor, Polyphagia, Prima... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Generalized lipodystrophy, Hepatomegaly, Hyper... ORPHA:363400
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Lipodystro... OMIM:615238
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Polyphagia, Hyperleucinemia, Increased... OMIM:620085
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Maturity-onset diabetes of the young, Overweight OMIM:613375
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh... ORPHA:276608
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-... OMIM:613877
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo... ORPHA:435651
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Abnorm... OMIM:275000
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c... OMIM:608594
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Hyperactivity, Tremor, Dystonia OMIM:615924
Temple Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, T... ORPHA:254516
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol ... OMIM:222100
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
14Q11.2 Microduplication Syndrome
Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c... OMIM:269700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Agitation, Hypophosphatemic r... ORPHA:263455
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Precocious puberty in femal... ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Obesity, Polyphagia, Aggressive behavior OMIM:616521
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1 ORPHA:140941
Huntington Disease
Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Abnormal circulating cholesterol... ORPHA:399
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intram... OMIM:151660
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Obesity, Aggressive behavior OMIM:620270
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
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
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Polyphagia, Central hypothyr... ORPHA:398079
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... ORPHA:300373
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,... OMIM:615381
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Increased body weight, Compu... ORPHA:398069
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Schaaf-Yang Syndrome
Polyphagia, Camptodactyly, Impulsivity, Obesity, Skin-picking, Flexion contracture, Hypogonadism,... OMIM:615547
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Increased circulating insulin-like growth factor 1 concentration, Overgrowth, Polyp... OMIM:300942
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Osteoporosis
Osteoporosis OMIM:166710
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce... ORPHA:35878
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious pube... OMIM:616222
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... ORPHA:79237
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Obesity, Motor stereotypy, Self-injurious... OMIM:613670
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-... ORPHA:552
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Obesity, Polyphagia ORPHA:171829
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous a... ORPHA:2457
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elbow flexion contracture, Elevate... OMIM:616516
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Polyphagia, Obesity, Overfriendliness, Attention deficit hyperactivity disorder OMIM:620439
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Polydipsia, Jaundice, Elev... ORPHA:525731
Perlman Syndrome
Tall stature, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femo... ORPHA:2849
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Acute hepatic failure... OMIM:278000
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Polyp... OMIM:606407
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h... ORPHA:231720
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Hype... ORPHA:79083
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Generalized lipodystro... ORPHA:79086
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu... ORPHA:2348
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Joubert Syndrome 10
Obesity, Decreased body weight, Polyphagia, Frequent temper tantrums OMIM:300804
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:607616
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, ... OMIM:613327
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism OMIM:615983
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Abnormal dental enamel morphology, Polyphagia, Increased blood ... ORPHA:251004
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism ORPHA:85274
Secondary Short Bowel Syndrome
Steatorrhea, Primary hypothyroidism, Cholestasis, Polyphagia, Central hypothyroidism, Failure to ... ORPHA:95427
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal... OMIM:605814
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir... ORPHA:2298
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Hypoglycemia, Ma... OMIM:300148
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Smith-Magenis Syndrome
Hypertriglyceridemia, Hyperactivity, Head-banging, Increased body weight, Self hugging, Abnormali... OMIM:182290
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Pa... ORPHA:280365
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia OMIM:600274
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Prader-Willi Syndrome
Delayed puberty, Self-injurious behavior, Decreased response to growth hormone stimulation test, ... OMIM:176270
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H... ORPHA:79319
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... ORPHA:890
Morm Syndrome
Hyperactivity, Truncal obesity, Aggressive behavior ORPHA:75858
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Increas... ORPHA:412
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Man1B1-Cdg
Resting tremor, Truncal obesity, Polyphagia ORPHA:397941
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Lipoma, Tremor, Obesity, Dystonia ORPHA:480907
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperglycemi... OMIM:615812
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Increased circulating ferritin concen... OMIM:603552
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Inguinal hernia, Biliary tract abnormality, Obesity, Ty... ORPHA:3191
Mehmo Syndrome
Obesity, Diabetes mellitus, Agitation ORPHA:85282
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Renal Glucosuria
Polydipsia, Glycosuria, Polyphagia OMIM:233100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Loss of subcutaneous adipose ti... OMIM:248370
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He... OMIM:619013
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98855
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Luscan-Lumish Syndrome
Obesity, Overgrowth, Polyphagia, Aggressive behavior OMIM:616831
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Angelman Syndrome
Precocious puberty in females, Tongue thrusting, Hyperactivity, Tremor, Delayed menarche, Recurre... ORPHA:72
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating he... ORPHA:264580
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Action tremor, Obesity, Abnor... ORPHA:77296
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Panniculitis, Elevated circulating hepatic transaminase conce... OMIM:617591
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Hypogonadism ORPHA:261483
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Hyperactivity, Resting tremor, Tremor, Obesity, Aggress... ORPHA:3077
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98853
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Cirrhosis, Hepatomegaly, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypogl... OMIM:602579
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Neonatal hypoglycemia, Anterior hypopituitarism, Prolonged neonatal jaundice, Ab... ORPHA:631
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end... ORPHA:93924
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... ORPHA:251937
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... ORPHA:86816
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparathyroidism, Obesity, ... OMIM:603233
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... ORPHA:94086
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Bardet-Biedl Syndrome 16
Obesity, Hypogonadism OMIM:615993
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Resting tremor, Tremor, Wrist flexion contracture, Obesity, Dystonia, Flexion ... OMIM:300055
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Dystonia OMIM:616756
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Elbow flexion contracture, Motor stereotypy, Aggressive behavior OMIM:619470
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Omphalocele, Impaired se... OMIM:614450
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, ... ORPHA:444490
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Obesity, Aggressive behavior OMIM:612469
Rett Syndrome
Agitation, Increased serum pyruvate, Stereotypical hand wringing, Failure to thrive, Hyperammonem... ORPHA:778
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration, Panniculitis, Splenomegaly OMIM:618398
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Increased ... OMIM:267700
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, De... OMIM:203800
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis, Type II diabetes mellitus ORPHA:2377
48,Xxyy Syndrome
Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Tremor, Hypergonadotropic hypog... ORPHA:10
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Smith-Magenis Syndrome
Delayed puberty, Hypertriglyceridemia, Precocious puberty, Hypothyroidism, Obesity, Motor stereot... ORPHA:819
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly OMIM:613101
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Biemond Syndrome Type 2
Delayed puberty, Obesity, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Abnormal circulating ho... ORPHA:785
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Microtriplication 11Q24.1
Obesity, Bruxism, Hyperlipidemia ORPHA:289522
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Bardet-Biedl Syndrome 4
Obesity, Hypogonadism OMIM:615982
Narcolepsy Type 1
Precocious puberty, Restless legs, Obesity, Restlessness, Attention deficit hyperactivity disorder ORPHA:2073
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly OMIM:620603
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior OMIM:617991
Pigmented Nodular Adrenocortical Disease, Primary, 2
Agitation, Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenoc... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Obesity OMIM:301900
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Rafiq Syndrome
Obesity, Truncal obesity, Flexion contracture, Aggressive behavior OMIM:614202
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Splenomegaly OMIM:620282
Pigmented Nodular Adrenocortical Disease, Primary, 1
Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente... OMIM:610489
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Reduced circulating prolactin concentr... ORPHA:2235
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Stereotypical hand wringing, Hypothyroidism, Obesity, Skin-picking, Motor stereoty... OMIM:600430
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Overfriendliness, Aggressive behavior OMIM:618010
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... OMIM:617253
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty, Obesity, Truncal ... ORPHA:96184
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... OMIM:214900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Impaired glucose tolerance, Obesity, Splenomegaly, Hepatic fibrosis, G... OMIM:615630
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis, Hypogonadism OMIM:615996
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
19P13.12 Microdeletion Syndrome
Hyperactivity, Hyperlipidemia, Hypothyroidism, Precocious puberty, Obesity, Self-injurious behavi... ORPHA:254346
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Abdominal obesity, Increased circulating gonadotropin level, Small for gestational ... OMIM:300869
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... ORPHA:158057
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Truncal obe... OMIM:618160
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevated c... OMIM:232400
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypoglycemia, Hypercholest... ORPHA:633
Rabson-Mendenhall Syndrome
Polydipsia, Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Enlarged ovari... ORPHA:769
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... OMIM:606721
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ... ORPHA:470
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Stereotypical hand wringing, Precocious pu... ORPHA:163681
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hepatic failure OMIM:177000
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome... OMIM:603553
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Abnormal circulating thyro... ORPHA:99832
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Enamel hypoplasia, Obesity OMIM:612463
Acth-Independent Macronodular Adrenal Hyperplasia
Agitation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hy... OMIM:219080
Bardet-Biedl Syndrome 8
Obesity, Hypogonadism OMIM:615985
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ... OMIM:615558
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Failure to thrive, Hypogonadism, Neonatal hyperbilirubinemia, Attention deficit hy... ORPHA:73272
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:2233
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Tremor, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Impaired glucose tolerance, Obesity, Pituitary adeno... OMIM:219090
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Flexion contracture of digit, Reduced subcutaneous adipose tissue, Hypogonadism, Hand tremor, Tru... ORPHA:3041
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Trisomy 5P
Obesity ORPHA:1742
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity, Type II diabetes mellitus, Abnormality of the thyroid gland, Hypogona... ORPHA:2234
H Syndrome
Delayed puberty, Hypertriglyceridemia, Enlarged kidney, Camptodactyly, Hepatosplenomegaly, Lipody... ORPHA:168569
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypothyroidism, Obesity... OMIM:103580
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity, Diabetes mellitus, Congenital hypothyroidism OMIM:614613
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Bruxism, Truncal obesity, Recurrent hand flapping OMIM:613192
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Enamel hypoplasia, Obesity, Hip contracture, Truncal ob... OMIM:618363
Ataxia-Oculomotor Apraxia 4
Obesity, Dystonia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperch... OMIM:616267
Insulin-Like Growth Factor I, Resistance To
Agitation, Decreased body weight, Reduced subcutaneous adipose tissue, Lipodystrophy, Increased c... OMIM:270450
Bardet-Biedl Syndrome 21
Obesity, Overweight, Elevated circulating hepatic transaminase concentration OMIM:617406
Adnp Syndrome
Abnormal temper tantrums, Inguinal hernia, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyp... ORPHA:404448
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Obesity, Abnormal circulating acylcarnitine concentration, Aggressive behavior OMIM:620191
Weaver Syndrome
Inguinal hernia, Overgrowth, Polyphagia, Camptodactyly, Umbilical hernia, Joint contracture of th... OMIM:277590
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Elevated circulating creatine kinase concentration, Obesity, Achilles tendon con... OMIM:615418
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Failure to thrive, Obesity, Self-m... ORPHA:412035
Foxp1 Syndrome
Hypothyroidism, Failure to thrive, Diabetes mellitus, Flexion contracture, Repetitive compulsive ... ORPHA:391372
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Elevated circulating C-reactive pro... ORPHA:158061
Familial Multiple Lipomatosis
Increased adipose tissue, Hyperlipidemia, Overgrowth, Lipodystrophy, Insulin resistance ORPHA:199276
Baralle-Macken Syndrome
Obesity, Dystonia OMIM:619255
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism OMIM:610628
Intellectual Developmental Disorder, Autosomal Dominant 1
Recurrent hand flapping, Polyphagia, Inappropriate laughter, Self-injurious behavior, Bruxism, Ag... OMIM:156200
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality OMIM:607485
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity, Torticollis OMIM:620639
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Dystonia, Puberty and gonadal disorders ORPHA:464282
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Hyperactivity, Polyphagia, Obesity, Collectioni... ORPHA:96121
Senior-Loken Syndrome 9
Obesity, Cholestasis, Hepatic fibrosis, Hypogonadism OMIM:616629
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Elevated circulating he... ORPHA:275761
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ... OMIM:619418
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308700
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Decreased bod... ORPHA:508
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Hypoalbuminemia, Hypoglycemia, Adrenal insuff... OMIM:617575
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hyperactivity, Tremor, Hypogonadism, Abdominal obesity, Aggressive behavior OMIM:300354
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... ORPHA:26793
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Hand tremor, Increased body weight, Impulsivity ORPHA:589905
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Obesit... ORPHA:90041
Vipoma
Neoplasm of the pancreas, Ascites, Pituitary adenoma, Parathyroid adenoma, Subcutaneous lipoma, N... ORPHA:97282
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Failure t... ORPHA:94065
Ppoma
Neoplasm of the pancreas, Ascites, Pituitary adenoma, Parathyroid adenoma, Subcutaneous lipoma, I... ORPHA:97278
Ataxia-Oculomotor Apraxia Type 4
Obesity, Dystonia ORPHA:459033
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Enlarged kidney, Hyperactivity, Polyphagia... OMIM:615873
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased H... OMIM:256040
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Obesity, Umbilical hernia, Neuroendocrine neoplasm, Aggressive behavior ORPHA:404443
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Hyperactivity, Compulsive behaviors, Obesity, Motor stereotypy, Aggressive behavior OMIM:618430
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Hyperuricemia ORPHA:261222
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Somatostatinoma
Steatorrhea, Neoplasm of the pancreas, Ascites, Pituitary adenoma, Parathyroid adenoma, Medullary... ORPHA:97283
Chronic Visceral Acid Sphingomyelinase Deficiency
Delayed puberty, Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL ch... ORPHA:77293
Angelman Syndrome Due To A Point Mutation
Tongue thrusting, Recurrent hand flapping, Obesity, Inappropriate laughter, Dysphagia, Abnormal e... ORPHA:411511
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... OMIM:610717
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
48,Xxxy Syndrome
Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Tremor, Obesity, Type II diabet... ORPHA:96263
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tongue thrusting, Hyperactivity, Tremor, Recurrent hand flapping, Obesity, Inappropriate laughter... ORPHA:98794
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Elevated cir... ORPHA:540
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Sheehan Syndrome
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:91355
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Torticollis, Tremor, Recurrent hand flapping, Obesity, Attention deficit hyperactiv... OMIM:619680
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Tall stature, Obesity OMIM:618089
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Hyperactivity, Cachexia, Tremor, Camptodactyly of finger, Obesity, Hypogonadism,... ORPHA:85293
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries OMIM:184700
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Congen... ORPHA:226313
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum ... OMIM:618841
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Self-mutilation, Polyphagia, Restlessness, Aggressive behavior ORPHA:251028
Perrault Syndrome 4
Hypoplasia of the ovary, Obesity, Disproportionate tall stature, Decreased serum estradiol, Incre... OMIM:615300
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Obesity, Flexion contracture of toe, Hypogonadism ORPHA:3409
Aromatase Deficiency
Tall stature, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Eunuch... ORPHA:91
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma... ORPHA:79259
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Septo-Optic Dysplasia Spectrum
Polydipsia, Maternal diabetes, Diabetes insipidus, Anterior pituitary hypoplasia, Abnormality of ... ORPHA:3157
Radio-Tartaglia Syndrome
Tremor, Impulsivity, Precocious puberty, Obesity, Dysphagia, Motor stereotypy, Attention deficit ... OMIM:619312
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... ORPHA:363618
Werner Syndrome
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Elevated hemog... OMIM:277700
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Obesity, Dystonia, Motor stereotypy, Attentio... ORPHA:261197
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Truncal obesity, Umbil... ORPHA:284180
Intellectual Developmental Disorder, X-Linked 21
Joint hypermobility, Hyperactivity, Impulsivity OMIM:300143
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Hand tremor, Hyperglycemia OMIM:604484
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Disproportionate tall stature, Attention deficit hyperactivity disorder, Abdominal... OMIM:301039
X-Linked Intellectual Disability, Hedera Type
Action tremor, Obesity, Left ventricular hypertrophy ORPHA:93952
1P36 Deletion Syndrome
Annular pancreas, Polyphagia, Hypothyroidism, Failure to thrive, Obesity, Camptodactyly of finger... ORPHA:1606
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia, Class III obesity OMIM:616418
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hypogonadism OMIM:601794
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
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, Tremor, Motor stereotypy, Overweight, Self... ORPHA:457240
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Grfoma
Neoplasm of the pancreas, Pheochromocytoma, Ascites, Pituitary adenoma, Parathyroid adenoma, Subc... ORPHA:97261
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Overgrowth, Obesity, Splenomegaly OMIM:605309
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoplasia of the thymus, Hyp... OMIM:619313
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Inguinal hernia, Overgrowth, Umbilical hernia OMIM:618272
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:615926
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Hypocalcemi... OMIM:618183
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Dystonia, Hypercholes... OMIM:277460
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Obesity, Abnormality of the endocrine system ORPHA:464288
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Exaggerated startle response OMIM:618201
Joubert Syndrome 37
Obesity, Hepatomegaly OMIM:619185
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... ORPHA:98908
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Kallmann Syndrome
Delayed puberty, Anterior hypopituitarism, Tremor, Obesity, Hypogonadotropic hypogonadism, Hypoth... ORPHA:478
Solitary Fibrous Tumor
Pelvic mass, Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Weight lo... ORPHA:2126
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micr... ORPHA:98907
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Failure to th... OMIM:614098
Methanol Poisoning
Type I diabetes mellitus, Addictive alcohol use, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Intellectual Developmental Disorder, X-Linked 12
Tremor, Truncal obesity, Small for gestational age, Increased body mass index OMIM:300957
Wagr Syndrome
Obesity ORPHA:893
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Obesity, Decreased body weight, Dysphagia ORPHA:589821
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Precocious puberty, Obesity, Hepatosplenomegaly, Motor stereotypy, ... OMIM:301066
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Hypocalcemia, Polyphagia, Fixated interests, Dystonia, Motor stereotyp... OMIM:620330
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Compulsive behaviors, Obesity, Motor stereotypy, Umbilical herni... ORPHA:1001
Bardet-Biedl Syndrome 17
Polydipsia, Obesity, Hypogonadism OMIM:615994
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hypoglycemic seizures, Hyperactivity, Tics, Failure to thrive, O... OMIM:616364
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Primary adrenal insuffi... ORPHA:261476
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia OMIM:610543
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Ventral hernia, Inguinal hernia, Widened atrophic scar, Umbilical hernia, C... ORPHA:536532
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Agitation, Tremor, Decreased body weight, Stereotypical hand wringing, E... OMIM:619229
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly OMIM:619802
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Retinitis Pigmentosa 51
Obesity OMIM:613464
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Laurence-Moon Syndrome
Obesity OMIM:245800
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Adrenocortical hypoplasia, Hypogly... OMIM:307030
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Obesity, Overgrowth, Aggressive behavior OMIM:620250
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, I... ORPHA:230
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Generalized lipodystrophy, Elevated circulating hepatic transaminase concen... OMIM:619127
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Hepatomegaly, Compulsive behaviors OMIM:618443
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia, Small for gestational age OMIM:256300
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... ORPHA:247353
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Tremor... ORPHA:79102
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Inguinal hernia, Hypothyroidism, Insulin resistance, Di... OMIM:616541
Angelman Syndrome
Hyperactivity, Limb tremor, Obesity, Paroxysmal bursts of laughter OMIM:105830
Carpenter Syndrome 1
Camptodactyly, Omphalocele, Precocious puberty, Obesity, Umbilical hernia, Polysplenia, Joint con... OMIM:201000
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Ascites, Biliary hyperp... OMIM:619991
White-Sutton Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Inguinal hernia, Hyperactivity, Compulsive behav... ORPHA:468678
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia, Hepatic steatosis ORPHA:96168
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Left ventricular hypertrophy, Biliary tract abnormality, Obesity,... OMIM:209900
Fliedner-Zweier Syndrome
Self-injurious behavior, Obesity, Aggressive behavior OMIM:620511
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypoparathyroidism, Precocious puberty, Obesity, Hypercalcemia ORPHA:369837
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Elevated circulating C-reactive protein concentrati... OMIM:619573
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Ascites OMIM:603278
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Megalencephaly
Truncal obesity ORPHA:2477
Silver-Russell Syndrome
Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr... ORPHA:813
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Inguinal hernia, Overgrowth, Precocious puberty, Failure to thrive, Um... ORPHA:261652
Shox-Related Short Stature
Obesity ORPHA:314795
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99413
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99226
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Distal Deletion 12Q
Obsessive-compulsive trait, Annular pancreas, Maturity-onset diabetes of the young, Biliary atres... ORPHA:96149
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Chromosome 1P36 Deletion Syndrome, Distal
Polyphagia, Camptodactyly, Congenital hypothyroidism, Hypothyroidism, Camptodactyly of finger, Ob... OMIM:607872
Kleefstra Syndrome
Obesity, Motor stereotypy, Self-injurious behavior, Hernia, Self-mutilation, Aggressive behavior ORPHA:261494
Congenital Myopathy 9A
Obesity OMIM:618822
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... ORPHA:99889
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Decreased serum leptin, Flexion contracture OMIM:614008
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc... OMIM:118450
Cushing Disease
Increased urinary cortisol level, Increased body weight, Impaired glucose tolerance, Adrenal hype... ORPHA:96253
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Joint contracture, Exaggerated startle response OMIM:616881
Ring Chromosome Y Syndrome
Obesity, Streak ovary, Male hypogonadism ORPHA:261529
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Weight loss, Attention deficit hyperactivity disorder ORPHA:251071
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Obsessive-compulsive trait, Abnormal temper tantrums, Impulsivity, Failure to thrive, Skin-pickin... ORPHA:500055
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Loss of... ORPHA:3455
Kleefstra Syndrome 1
Obesity, Compulsive behaviors, Motor stereotypy, Aggressive behavior OMIM:610253
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H... ORPHA:273
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Calcinosis, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:90154
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Agitation, Hyperactivity, Impulsivity, Exaggerated startle response, Hy... OMIM:620423
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Pancreatitis, Obesity, Male hypogonadism... OMIM:619471
Griscelli Syndrome Type 2
Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly ORPHA:79477
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... ORPHA:158048
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight, Dysphagia, Hypothalamic atrophy ORPHA:2822
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia, Small for gestational age ORPHA:254534
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Tall stature, Enlarged kidney, Splenomegaly, Umbilical hernia, C... ORPHA:116
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Hypertriglyceridemia, Increased serum testosterone level, Hypoplasia of the thymus, ... OMIM:264090
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Exaggerated startle response, Hip contracture, Flexion contracture, Dy... OMIM:617301
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity, Streak ovary OMIM:194072
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased liver function, Jaundice, Elevated circulating hepatic transamina... ORPHA:167
Bardet-Biedl Syndrome
Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholesterol concentration, I... ORPHA:110
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transam... OMIM:232200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Elevated circulating hepatic transaminase concentration, Hyperactivity, Impulsiv... OMIM:619475
1P21.3 Microdeletion Syndrome
Obesity, Self-injurious behavior, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Congenital hypothyroidism, Failure to thrive, Dysphagia, Contractur... OMIM:617527
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Attention deficit hyperactivity d... OMIM:620185
Histidinemia
Hyperactivity ORPHA:2157
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity, Femoral hernia, Inguinal hernia ORPHA:96147
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Abnormality of the diencephalon, Multiple joint contractures ORPHA:2570
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ascites, Limb joint contracture, Splenomegaly, Flexion contracture, Micronodular ci... OMIM:301072
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity, Left ventricular hypertrophy ORPHA:563
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Decreased response to growth hormone stimulation test, Head-banging, An... ORPHA:177907
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Exaggerated startle response ORPHA:3198
Rabin-Pappas Syndrome
Failure to thrive in infancy, Obesity, Hyponatremia, Overgrowth OMIM:620155
Sotos Syndrome
Neonatal hypoglycemia, Tall stature, Increased body weight, Overgrowth, Prolonged neonatal jaundi... OMIM:117550
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia, Obesity OMIM:608624
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Increased serum beta-hexosaminidase, Tremor, Exaggerated ... ORPHA:845
Developmental And Epileptic Encephalopathy 8
Overgrowth, Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Joint contracture, Exaggerated startle response OMIM:617864
Momo Syndrome
Large for gestational age, Tall stature, Overgrowth, Obesity ORPHA:2563
Cohen Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Childhood-onset truncal o... OMIM:216550
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Reduced circulating growth hormone concentration, Obesity, Inguinal hernia, Umbilical hernia OMIM:620654
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Obesity, Dentinogenesis imperfecta OMIM:619269
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transam... OMIM:232220
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase conc... ORPHA:157
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity, Elbow flexion contracture, Hip contracture OMIM:618493
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating c... ORPHA:228308
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Failure to thrive, Impaired oropharyngeal swallow response, Dystoni... ORPHA:521426
Hyperekplexia 1
Exaggerated startle response, Inguinal hernia, Umbilical hernia OMIM:149400
Bardet-Biedl Syndrome 12
Abdominal mass, Obesity, Hypogonadism OMIM:615989
Desbuquois Dysplasia 1
Obesity OMIM:251450
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Tongue thrusting, Abnormality of the pineal gland, Compulsive behaviors, Failure to thrive, Obesi... ORPHA:369950
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Frequent temper tantrums, Obesity, Attention deficit hyperactivity disorder, Self-... OMIM:616078
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Exaggerated startle response OMIM:609541
Ulnar-Mammary Syndrome
Delayed puberty, Hernia of the abdominal wall, Obesity, Camptodactyly of finger ORPHA:3138
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Tremor, Inguinal hernia OMIM:614947
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Dysphagia, Attention deficit hyperactivity disorder, Self-injurious behavior, Truncal ob... ORPHA:466950
Momo Syndrome
Obesity, Overgrowth OMIM:157980
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Stiff-Person Syndrome
Diabetes mellitus, Opisthotonus, Exaggerated startle response OMIM:184850
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Failure to thrive, Hyperammonemia, Splenomegaly, Hypolysinemia, Incre... OMIM:222700
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy ORPHA:31150
Down Syndrome
Delayed puberty, Obesity, Type II diabetes mellitus, Hyperthyroidism, Umbilical hernia ORPHA:870
Carney Complex
Thyroid carcinoma, Tall stature, Increased circulating insulin-like growth factor 1 concentration... ORPHA:1359
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Digeorge Syndrome
Inguinal hernia, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Femoral hernia, Hypothyr... OMIM:188400
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Bloom Syndrome
Adipose tissue loss, Abdominal obesity, Insulin resistance, Diabetes mellitus, Small for gestatio... ORPHA:125
Achondroplasia
Obesity ORPHA:15
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Agitation, Tremor, Exaggerated startle response OMIM:618056
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Jaundice, Elevated circulating hepatic transaminase concentration, Obesity, Hypogonadism, Diabete... OMIM:614231
Cohen Syndrome
Delayed puberty, Failure to thrive in infancy, Obesity ORPHA:193
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Limb joint contracture, Exaggerated startle response OMIM:620327
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Enamel hypoplasia, Truncal obesity, Type II diabetes mellitus OMIM:210720
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hyperlipidemia, Hypergonadotropic... OMIM:241080
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Motor stereotypy, Inguinal hernia OMIM:618653
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Pancreatitis, Hyperlipidemia, Failure to thrive, Small for ges... ORPHA:1830
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Attention deficit hyperactivity disorder, Truncal obesity ORPHA:2637
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Dysphagia, Attention deficit hyperactivity disorder, Self-injurious behavior, Aggressive... ORPHA:466943
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Hypoplasia of the ovary, Flexion contracture, Abdominal obesity, Hepatic steatosis OMIM:619321
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal subcutaneous fat tissue ... ORPHA:79318
Kagami-Ogata Syndrome
Large for gestational age, Inguinal hernia, Overgrowth, Omphalocele, Dysphagia, Hepatoblastoma ORPHA:254519
Perlman Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Visceromegaly, Ascites, Hypoglycemia,... OMIM:267000
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Abnormal odontoid tissue morphology, Exaggerated startle response ORPHA:79255
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Anterio... ORPHA:1435
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Cholelithiasis, Hypocalcemia, Abnormal dental enamel morphol... ORPHA:567
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Chops Syndrome
Obesity, Splenomegaly OMIM:616368
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular c... OMIM:232240
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia, Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Asparagine Synthetase Deficiency
Failure to thrive, Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Obesity, Umbilical hernia, Bruxism ORPHA:48652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Flexion contracture, Exaggerated startle resp... OMIM:253800
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
White-Kernohan Syndrome
Hypothyroidism, Obesity, Attention deficit hyperactivity disorder OMIM:619426
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Truncal obesity, Pineal cyst, Aggressive behavior ORPHA:529962
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Failure to thri... ORPHA:353281
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Hyperlipidemia, Elevated circulating creatine kinase concentration, S... ORPHA:565612
Williams Syndrome
Abnormal circulating lipid concentration, Cardiomegaly, Inguinal hernia, Cholelithiasis, Abnormal... ORPHA:904
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Hypothyroidism, Obesity, Increased circulating gonadotropin level, Streak ovary,... ORPHA:1772
Primrose Syndrome
Delayed puberty, Tics, Hypergonadotropic hypogonadism, Hypothyroidism, Diabetes mellitus, Hip con... OMIM:259050
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... ORPHA:740
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Williams-Beuren Syndrome
Obsessive-compulsive trait, Glucose intolerance, Inguinal hernia, Portal hypertension, Hypothyroi... OMIM:194050
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Inguinal ... OMIM:613406
Retinitis Pigmentosa 74
Obesity OMIM:616562
Ulnar-Mammary Syndrome
Delayed puberty, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contracture, Obesi... OMIM:181450
Rubinstein-Taybi Syndrome 1
Hepatic hemangioma, Accessory spleen, Hyperactivity, Self-mutilation, Keloids, Impulsivity, Prema... OMIM:180849
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Stereotypical hand wringing, Exaggerated startle response, H... ORPHA:438213
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Tako-Tsubo Cardiomyopathy
Mildly elevated creatine kinase, Obesity, Abnormal circulating B-type natriuretic peptide concent... ORPHA:66529
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity ORPHA:444077
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
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
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Corneal scarring, Compulsive behaviors, Impulsivit... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Corneal scarring, Compulsive behaviors, Impulsivit... ORPHA:353277
Chronic Thromboembolic Pulmonary Hypertension
Obesity, Increased HDL cholesterol concentration, Elevated circulating C-reactive protein concent... ORPHA:70591
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Myhre Syndrome
Obesity, Small for gestational age, Camptodactyly OMIM:139210
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Fabry Disease
Delayed puberty, Abnormal circulating lipid concentration, Anorexia, Diabetes insipidus, Hyperlip... ORPHA:324
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Camptodactyly, Failure to thrive, Motor stereotypy, Self-injurious behavior, Truncal obesity OMIM:612474
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Pseudohypoparathyroidism, Failure to thrive, Obesity OMIM:617157
Hellp Syndrome
Increased body weight, Elevated circulating hepatic transaminase concentration ORPHA:244242
Cornelia De Lange Syndrome
Delayed puberty, Congenital diaphragmatic hernia, Compulsive behaviors, Failure to thrive, Attent... ORPHA:199
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Ascites ORPHA:567546
Carpenter Syndrome 2
Obesity, Knee flexion contracture, Camptodactyly, Umbilical hernia OMIM:614976
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Norrie Disease
Delayed puberty, Cachexia, Failure to thrive, Abnormality of the diencephalon, Motor stereotypy, ... ORPHA:649
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Obesity, Paroxysmal bursts of laughter, Hypogonadism OMIM:309580
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response OMIM:618367
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Peritonitis ORPHA:2968
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response, Dysphagia, Motor stereotypy OMIM:619522
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of 2nd-5th fingers, Omphalocele, ... OMIM:601803
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia 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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