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Gene: Mc3r MGI:96929

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Gene Summary

Name:
melanocortin 3 receptor
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
decreased heart weight Mc3rem1(IMPC)Mbp HOM Early adult 4.14×10-05
abnormal kidney morphology Mc3rem1(IMPC)Mbp HOM Early adult 0.00
small kidney Mc3rem1(IMPC)Mbp HOM Early adult 0.00
increased total body fat amount Mc3rem1(IMPC)Mbp HOM Early adult 3.90×10-13
small testis Mc3rem1(IMPC)Mbp HOM Early adult 0.00
decreased bone mineral density Mc3rem1(IMPC)Mbp HOM   Early adult 1.19×10-05
decreased body length Mc3rem1(IMPC)Mbp HOM   Early adult 6.04×10-05
abnormal skin morphology Mc3rem1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Mc3rem1(IMPC)Mbp HOM Early adult 0.00
decreased lean body mass Mc3rem1(IMPC)Mbp HOM Early adult 5.28×10-13
decreased bone mineral content Mc3rem1(IMPC)Mbp HOM   Early adult 1.76×10-11

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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 Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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Human diseases caused by Mc3r 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 Mc3r by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia ORPHA:329249
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia OMIM:618406
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Excessive insulin response to gl... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Obesity And Hypopigmentation
Overgrowth, Obesity, Polyphagia OMIM:620195
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276580
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276575
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity OMIM:620270
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Excessiv... ORPHA:276556
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Short toe, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Broad foot, Brachydacty... ORPHA:3085
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity ORPHA:300305
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... OMIM:619598
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Polyphagia OMIM:617885
Fibular Hemimelia
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... ORPHA:93323
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Reduced subcutaneou... ORPHA:363400
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... ORPHA:174
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Micrognathia, Type I... OMIM:619326
Leptin Receptor Deficiency
Aggressive behavior, Obesity, Abnormal eating behavior, Polyphagia OMIM:614963
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia, F... ORPHA:35878
Mandibuloacral Dysplasia
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... ORPHA:2457
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic isl... ORPHA:263455
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Broad-based gait, Congenital hypothyroidism, Increased body weight, I... OMIM:614450
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Equinovarus deformity, Micrognathia, Genu valgum, Broad phalanx, ... ORPHA:56304
Perlman Syndrome
Tall stature, Hyperinsulinemia, Micrognathia, Inguinal hernia, Femoral hernia ORPHA:2849
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Aggressive behavior ORPHA:261229
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Long foot, Hyperinsulinemia... ORPHA:528
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Decreased adipo... OMIM:608612
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity OMIM:301013
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Decreased fibular diameter, Arachnodactyly, Long toe, Long fingers OMIM:619489
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Decreased fibular diameter, Micrognathia, Short ribs, Limb undergrowth, Adduct... OMIM:616897
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity ORPHA:411515
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Intellectual Developmental Disorder, X-Linked 108
Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder, Pes planus, Clino... OMIM:301024
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Failure to thrive, Sandal gap, Hypoglycemia, Short humerus, Short ribs, ... OMIM:607143
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Long foot, Hyperglycemia, Hyperinsulinemia, Pancr... OMIM:246200
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Nephronophthisis 15
Obesity OMIM:614845
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Symphalangism of the thumb, Short toe, Failure to thrive, Clinodactyly, ... OMIM:620494
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Aggressive behavior, Hyperactivity, Anorexia ORPHA:3077
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Long ... ORPHA:300373
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Omphalocele, Short femur OMIM:601357
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... ORPHA:93333
Mehmo Syndrome
Obesity, Agitation ORPHA:85282
Mehmo Syndrome
Aggressive behavior, Obesity, Small for gestational age OMIM:300148
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Increased adipose tissue around the neck, Increased facial adipos... OMIM:248370
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Aggressive behavior, Large for gestational age, Agitation OMIM:616116
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Trisomy 5P
Obesity ORPHA:1742
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... ORPHA:240094
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to... ORPHA:370010
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Schaaf-Yang Syndrome
Small hand, Rocker bottom foot, Clinodactyly, Failure to thrive in infancy, Inability to walk, Ob... OMIM:615547
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Knee dislocation, Obesity, Micrognathia, Genu valgum, Inguinal hernia, Hip con... OMIM:618363
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Impulsivity OMIM:617991
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Temple Syndrome
Precocious puberty, Small hand, Recurrent hypoglycemia, Decreased response to growth hormone stim... ORPHA:254516
Biemond Syndrome Type 2
Obesity ORPHA:141333
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Tall stature, Obesity, Genu valgum, Short 4th metacar... ORPHA:3210
Pseudopseudohypoparathyroidism
Short 5th finger, Short distal phalanx of the thumb, Short 5th metacarpal, Obesity, Short 4th met... ORPHA:79445
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Pica, Overweight, Recurrent hand flapping OMIM:615032
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Morbid Obesity And Spermatogenic Failure
Obesity OMIM:615703
Spastic Paraplegia 47, Autosomal Recessive
Genu recurvatum, Inability to walk, Acetabular dysplasia, Talipes equinovarus, Pes planus, Flexio... OMIM:614066
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity, Oral-pharyngeal dysphagia ORPHA:480907
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Small for gestational ag... ORPHA:79237
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Estrogen Resistance
Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Increased circulating osteocalc... OMIM:615363
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Narcolepsy Type 1
Attention deficit hyperactivity disorder, Obesity, Restlessness, Restless legs ORPHA:2073
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Absence of secondary sex characteristics, Tall stature, Hyperins... ORPHA:785
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Long foot, Tall stature, Hyperinsulinemia, Reduced subcutaneous adipose tissue,... OMIM:608594
Clark-Baraitser Syndrome
Aggressive behavior, Obesity, Hyperactivity OMIM:617752
Spinocerebellar Ataxia Type 27
Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia ORPHA:98764
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased a... ORPHA:435660
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Abnormal foot morphology, Upper limb under... ORPHA:94068
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint... ORPHA:1860
Prader-Willi Syndrome
Small hand, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Polyphagia, S... OMIM:176270
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Joubert Syndrome 10
Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight OMIM:300804
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity, Hyperactivity ORPHA:397973
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Rafiq Syndrome
Aggressive behavior, Obesity, Flexion contracture, Truncal obesity OMIM:614202
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi... OMIM:251450
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia, Bradykinesia ORPHA:391411
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Small hand, Shuffling gait, Male hypogonadism, Bradykinesia, Bruxism, Obesity, Micrognathia, Pes ... OMIM:300055
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... OMIM:600430
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand, Ulnar bowing, Short r... OMIM:100800
Temple Syndrome
Precocious puberty, Small hand, Clinodactyly, Maturity-onset diabetes of the young, Obesity, Micr... OMIM:616222
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Orofaciodigital Syndrome Vi
Toe syndactyly, Failure to thrive, Clinodactyly, Preaxial hand polydactyly, Radial deviation of f... OMIM:277170
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Long foot, Tall stature, Hyperinsulinemia, Type II diabetes mellitus, Reduced s... OMIM:269700
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habi... OMIM:308750
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi... OMIM:211350
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, 2-3 toe syndactyly, Attention deficit hyperactivity disorder, Gait disturb... ORPHA:589905
Angelman Syndrome Due To A Point Mutation
Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust... ORPHA:411511
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Lipodystrophy, Flexion contracture, Dysp... OMIM:613327
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Small hand, Clinodactyly, Obesity, Micrognathia, Acromicria, Short foot ORPHA:254525
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Self-mutilation, Hyperactivity, Camp... ORPHA:412035
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Obesity, Congenital hypothyroidism, Brachydactyly, Short metatarsal, Hyper... OMIM:614613
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Parkinson Disease 17
Akinesia, Bradykinesia OMIM:614203
Pseudopseudohypoparathyroidism
Obesity, Pseudohypoparathyroidism, Enamel hypoplasia, Brachydactyly, Short metatarsal, Short meta... OMIM:612463
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Rhizomelia, Micromelia, Genu valgum, Micrognathia, Fibular bowing, Ing... OMIM:613848
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Decreased serum leptin, Diabeti... OMIM:615238
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Laurence-Moon Syndrome
Obesity OMIM:245800
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Fractured rib, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Inguinal... OMIM:618188
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Atelosteogenesis Type I
Rhizomelia, Micrognathia, Talipes equinovarus, Limb undergrowth, Abnormal ossification involving ... ORPHA:1190
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Congenital diaphragmatic hernia, Omphalocele, Decreased skull ossification OMIM:601163
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Obes... ORPHA:65759
Hemochromatosis, Type 1
Cardiomyopathy, Azoospermia, Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Testicular ... OMIM:235200
48,Xxyy Syndrome
Ataxia, Abnormal dental enamel morphology, Tall stature, Obesity, Abnormal shoulder morphology, T... ORPHA:10
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... OMIM:615830
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy OMIM:618430
Baralle-Macken Syndrome
Obesity OMIM:619255
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Small hand, Clinodactyly, Maturity-onset diabetes of the young, Obesity, Micr... ORPHA:254531
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hypoglycemia, Short humerus, Polydactyly, Aggressive behavior, Unsteady gait, ... ORPHA:17
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism, Brachydactyly,... OMIM:603233
Shox-Related Short Stature
Obesity, Micrognathia, Genu valgum, Tibial bowing, Ulnar radial head dislocation, Lower limb unde... ORPHA:314795
Laurence-Moon Syndrome
Finger syndactyly, Obesity, Type II diabetes mellitus, Hand polydactyly, Brachydactyly, Ataxia ORPHA:2377
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Failure to thrive, Fasting hyperinsulinemia, Hypoket... ORPHA:71212
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Hyperinsulinemia ORPHA:66518
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim... ORPHA:226313
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Luscan-Lumish Syndrome
Overgrowth, Obesity, Polyphagia, Aggressive behavior OMIM:616831
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Abdominal obesity OMIM:615980
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Attention deficit hyperactivity disorder, Abdominal obesity, Camptodactyly, ... OMIM:301039
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity, Hyperactivity OMIM:618089
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Obesity OMIM:601794
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Freezing of gait OMIM:619911
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Perry Syndrome
Short stepped shuffling gait, Bradykinesia, Weight loss, Akinesia OMIM:168605
Microtriplication 11Q24.1
Bruxism, Obesity ORPHA:289522
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Femoral bowing, Osteosclerosis of the ulna, Bowing of the long bones... OMIM:602080
Wagr Syndrome
Obesity ORPHA:893
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant... ORPHA:769
Retinitis Pigmentosa 51
Obesity OMIM:613464
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Mpi-Cdg
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia ORPHA:79319
Pde4D Haploinsufficiency Syndrome
Cone-shaped epiphysis, Elevated circulating parathyroid hormone level, Short toe, Broad hallux, U... ORPHA:439822
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Short toe, Short finger, Hypogonadism, Obesity, P... OMIM:103580
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Smith-Magenis Syndrome
Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Increased body... OMIM:182290
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Absent Achilles reflex, Obesity, Dysmetria, Pes planus, Gait disturbance, Hypo... ORPHA:93952
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust... ORPHA:98794
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Intellectual Developmental Disorder, Autosomal Dominant 53
Overgrowth, Unsteady gait, Genu valgum, Short femur OMIM:617798
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Joint stiffness, Decreased libido, Ca... ORPHA:465508
X-Linked Intellectual Disability, Cabezas Type
Small hand, Toe syndactyly, Broad-based gait, Sandal gap, Camptodactyly of finger, Hypogonadism, ... ORPHA:85293
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Aggressive behavior, Obesity OMIM:619056
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Talipes equinovarus, Radioulnar synostosis... OMIM:134780
Corticobasal Syndrome
Bradykinesia, Gait disturbance, Akinesia ORPHA:454887
Osteogenesis Imperfecta, Type Xxiii
Truncal obesity OMIM:620639
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Obesity, Aggressive behavior OMIM:620191
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Obesity, Self-mutilation, Stereotypical hand wringing, Skin-picking, Ag... ORPHA:163681
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Obesity, Eunuchoid habitus ORPHA:2234
Rett Syndrome
Failure to thrive, Difficulty walking, Inability to walk, Increased serum leptin, Bruxism, Stereo... ORPHA:778
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:94086
Wiedemann-Rautenstrauch Syndrome
Clinodactyly, Micrognathia, Reduced subcutaneous adipose tissue, Talipes equinovarus, Large hands... OMIM:264090
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Lethargy, Short tibia, Short femur OMIM:620306
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Congenital Myopathy 12
Joint contracture of the hand, Akinesia, Camptodactyly, Jaw contracture, Small for gestational age OMIM:612540
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hip contracture, Bowing of th... OMIM:210710
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Obesity, Genu valgum, Broad foot,... OMIM:250420
Non-Acquired Isolated Growth Hormone Deficiency
Abdominal obesity ORPHA:631
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity ORPHA:261222
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Abdominal obesity OMIM:300869
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Small hand, Failure to thrive, Hypogonadism, Obsessive-compulsive trait... ORPHA:500055
Spinocerebellar Ataxia 21
Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia OMIM:607454
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Insulin-resistant diabetes mellitus, Chronic active hepatitis, De... OMIM:203800
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Megalencephaly
Truncal obesity ORPHA:2477
Joubert Syndrome 32
Postaxial foot polydactyly, Tall stature, Large for gestational age, Ataxia, Postaxial hand polyd... OMIM:617757
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Dysphagia, Hyperactivity, Decreased body weight ORPHA:589821
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia, Truncal obesity, Umbil... ORPHA:284180
Magel2-Related Prader-Willi-Like Syndrome
Small hand, Absence of pubertal development, Type II diabetes mellitus, Increased body weight, Po... ORPHA:398069
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Broad hallux, Increased body weight, 2-3 toe syndactyly, Aggressive beha... OMIM:300860
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
Myofibrillar Myopathy 11
Overweight, Dysphagia OMIM:619178
Arthrogryposis Multiplex Congenita 6
Akinesia, Arthrogryposis multiplex congenita OMIM:619334
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... ORPHA:280365
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Micrognathia, T... ORPHA:79474
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Talipes, Pes planus, Short hallux, Tics, Dysphagia, Short 5th finger... ORPHA:508488
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Ulnar deviation of the 2nd finger, ... OMIM:616145
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short femoral neck, Knee dislocation, Obesity, Carpal bone hypoplasia, Pes planus, Hypoplasia of ... OMIM:618395
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Large for gestational age, Micrognathia, Inguinal hernia, Overgrowth OMIM:618272
Subaortic Stenosis-Short Stature Syndrome
Obesity, Inguinal hernia ORPHA:3191
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small hand, Clinodactyly, Maturity-onset diabetes of the young, Obesity, Micr... ORPHA:96184
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Micrognathia, Genu valg... OMIM:201000
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ... ORPHA:3455
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:98793
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Combined Oxidative Phosphorylation Deficiency 54
Obesity OMIM:619737
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia OMIM:300894
Narcolepsy 7
Obesity OMIM:614250
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Broad hallux, Umbilical hernia, Large for gestational a... OMIM:239850
15Q24 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Hernia, Small for gestational age ORPHA:94065
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Hypothyroidism, Small for gestational age, Failure to thrive OMIM:619147
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:98754
Manganese Poisoning
Bradykinesia, Gait disturbance, Akinesia ORPHA:306682
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... ORPHA:177901
Tatton-Brown-Rahman Syndrome
Aggressive behavior, Obesity, Umbilical hernia, Proportionate tall stature ORPHA:404443
Lethal Congenital Contracture Syndrome 2
Akinesia, Arthrogryposis multiplex congenita OMIM:607598
Marbach-Schaaf Neurodevelopmental Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Recurrent hand flapping OMIM:619680
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small hand, Small pituitary gland, Central hypothyroidi... ORPHA:398079
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Finger syndactyly, Umbilical hernia, Obesity, Congenital diaphragmati... ORPHA:1001
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Long f... ORPHA:508
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Aggressive behavior, Hyperactivity, Abdominal obesity OMIM:300354
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Self-mutilation, Flexion contracture of digit, Reduced subcutaneous adipose tissue, Truncal obesity ORPHA:3041
Kufor-Rakeb Syndrome
Bradykinesia, Gait disturbance, Akinesia, Ataxia OMIM:606693
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Failure to thrive, Choreoathetosis OMIM:618249
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Large for gestational age, Overgrowth, Omphalocele, Small for gestational age ORPHA:254534
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hyporeflexia of lower limbs, Tip-toe gait, Elbow flexion contracture, Obesity, Decreased cervical... ORPHA:98855
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Polydipsia, Hypogonadism, Mesoaxial hand polydactyly, Obesity, Polyda... OMIM:615994
Radio-Tartaglia Syndrome
Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Motor stereoty... OMIM:619312
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Achilles tendon contracture OMIM:615418
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Increased body mass index OMIM:300957
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Chromosome 16P13.3 Deletion Syndrome, Proximal
Obesity, Failure to thrive OMIM:610543
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Attention deficit hyperactivity disorder, Hyperactivity, Truncal obesity, Smal... ORPHA:73272
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
48,Xxxy Syndrome
Abnormal epiphysis morphology, Abnormal dental enamel morphology, Tall stature, Obesity, Hypogona... ORPHA:96263
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity, Aggressive behavior OMIM:620250
Angelman Syndrome
Self-injurious behavior, Obesity, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... ORPHA:72
Atelis Syndrome 2
Clinodactyly, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, M... OMIM:620185
Fliedner-Zweier Syndrome
Self-injurious behavior, Aggressive behavior, Obesity OMIM:620511
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Gait imbalance, Falls, Akinesia ORPHA:240071
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Micrognathia, Mesomelic/rhizom... ORPHA:2839
Thalidomide Embryopathy
Insulin resistance, Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humeru... ORPHA:3312
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Senior-Loken Syndrome 9
Obesity OMIM:616629
Fetal Akinesia Deformation Sequence
Akinesia, Arthrogryposis multiplex congenita, Multiple joint contractures, Camptodactyly of finger ORPHA:994
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Genu valgum, Glucose intolerance, Short ribs, Brachydactyly, Short long bone, Postaxial ... OMIM:615630
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Attention deficit hyperactivity diso... ORPHA:261197
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes mellitus, Pes planus, Splayed toes,... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes mellitus, Pes planus, Splayed toes,... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes mellitus, Pes planus, Splayed toes,... ORPHA:99228
Monosomy X
Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes mellitus, Pes planus, Splayed toes,... ORPHA:99226
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... ORPHA:226307
Congenital Analbuminemia
Obesity, Lipodystrophy, Small for gestational age ORPHA:86816
Wolfram Syndrome 1
Hydroureter, Cardiomyopathy, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Testicular atrop... OMIM:222300
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Obesity, Arthrogryposis multiplex congenita, Hyperactivity ORPHA:254346
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98853
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Smith-Magenis Syndrome
Self-injurious behavior, Failure to thrive in infancy, Obesity, Attention deficit hyperactivity d... ORPHA:819
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Truncal obesity, Agita... OMIM:270450
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Aceruloplasminemia
Akinesia, Limb ataxia, Gait ataxia, Ataxia, Diabetes mellitus ORPHA:48818
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Obesity ORPHA:251004
White-Sutton Syndrome
Self-injurious behavior, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Overfriendl... OMIM:616364
Achondroplasia
Rhizomelia, Hip joint hypermobility, Obesity, Trident hand, Knee joint hypermobility, Narrow grea... ORPHA:15
Perrault Syndrome 4
Obesity, Disproportionate tall stature OMIM:615300
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Den Hoed-De Boer-Voisin Syndrome
Obesity, Decreased body weight, Stereotypical hand wringing, Amelogenesis imperfecta, Enamel hypo... OMIM:619229
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Obesity, Motor stereotypy OMIM:610253
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Rhinitis, Hypoglycemia, Hyperinsulinemia ORPHA:230
Joubert Syndrome 37
Obesity OMIM:619185
Morgagni-Stewart-Morel Syndrome
Obesity ORPHA:77296
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Self-injurious behavior, Failure to thrive, Umbilical hernia, Large for gesta... ORPHA:261652
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Akinesia, Gait ataxia, Ataxia, Dysdiadochokinesis ORPHA:247234
White-Sutton Syndrome
Self-injurious behavior, Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Aggressive be... ORPHA:468678
Postencephalitic Parkinsonism
Bradykinesia, Akinesia ORPHA:97349
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Flexion contracture OMIM:253290
Pituitary Adenoma 4, Acth-Secreting
Obesity, Abnormal fear-induced behavior, Abdominal obesity OMIM:219090
Laron Syndrome
Truncal obesity ORPHA:633
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Pituitary resistance to thyroid hormon... ORPHA:79444
Angelman Syndrome
Obesity, Paroxysmal bursts of laughter, Hyperactivity OMIM:105830
Wilson Disease
Failure to thrive, Increased body weight, Aggressive behavior, Weight loss, Hypersexuality ORPHA:905
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Joint contracture OMIM:225790
Bardet-Biedl Syndrome 1
Ataxia, Insulin resistance, Postaxial foot polydactyly, Radial deviation of finger, Hypogonadism,... OMIM:209900
Momo Syndrome
Tall stature, Obesity, Large for gestational age, Overgrowth ORPHA:2563
Acth-Independent Macronodular Adrenal Hyperplasia
Agitation, Truncal obesity OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Agitation, Truncal obesity OMIM:610475
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Bradykinesia, Weight loss, Akinesia ORPHA:411602
Sotos Syndrome
Long metacarpals, Long foot, Tall stature, Genu valgum, Glucose intolerance, Increased body weigh... OMIM:117550
Septo-Optic Dysplasia Spectrum
Obesity, Polydipsia ORPHA:3157
Kleefstra Syndrome
Self-injurious behavior, Obesity, Self-mutilation, Hernia, Aggressive behavior, Motor stereotypy ORPHA:261494
Pseudohypoparathyroidism Type 1A
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Pituitary resist... ORPHA:79443
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
9Q31.1Q31.3 Microdeletion Syndrome
Small hand, Type II diabetes mellitus, Short clavicles, Overweight, Tapered finger ORPHA:401923
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Compulsive behaviors, Obesity OMIM:618443
Joubert Syndrome 8
Obesity OMIM:612291
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Micrognathia, Absence of subcutaneous fat, Lack of ... OMIM:614098
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Adiposis Dolorosa
Obesity ORPHA:36397
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Tapered finger, Dysphagia, Short humerus, Short femur OMIM:618367
Gaucher Disease, Perinatal Lethal
Akinesia, Arthrogryposis multiplex congenita, Decreased body weight OMIM:608013
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Obesity, Absent hand, Postaxial hand pol... ORPHA:3138
Retinitis Pigmentosa 74
Obesity OMIM:616562
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Type I diabetes mellitus, Short toe, Obesity, Clin... OMIM:619269
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Falls, Oral-pharyngeal dysphagia, Inability to walk, Decre... ORPHA:273
Kleefstra Syndrome Due To 9Q34 Microdeletion
Obesity, Inguinal hernia, Femoral hernia, Failure to thrive ORPHA:96147
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Micrognathia, Talipes, Talipes equinovarus, Pes planus, Clinodact... OMIM:300990
Intellectual Developmental Disorder, Autosomal Dominant 29
Self-injurious behavior, Frequent temper tantrums, Obesity, Aggressive behavior, Attention defici... OMIM:616078
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Anterior pituitary hypoplasia, ... OMIM:181450
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity ORPHA:127
Rabin-Pappas Syndrome
Failure to thrive in infancy, Overgrowth, Obesity OMIM:620155
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Failure to thrive, Decreased serum leptin, Micrognathia, Osteolytic defects of... OMIM:614008
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
African Trypanosomiasis
Myelitis, Keratitis, Difficulty walking, Akinesia, Abnormality of circulating cortisol level, Opt... ORPHA:3385
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight ORPHA:69663
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Self-injurious behavior, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:466950
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Obesity, Hip contracture OMIM:618493
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight, Dysphagia ORPHA:2822
Arthrogryposis Multiplex Congenita 5
Umbilical hernia, Elbow flexion contracture, Akinesia, Inguinal hernia, Camptodactyly, Flexion co... OMIM:618947
Lesch-Nyhan Syndrome
Nephrocalcinosis, Podagra, Nephrolithiasis, Hyperuricosuria, Testicular atrophy OMIM:300322
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Aggressive be... ORPHA:96121
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Pigmented Nodular Adrenocortical Disease, Primary, 1
Agitation, Truncal obesity OMIM:610489
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Obesity, Overweight, Small for gestational age ORPHA:26793
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity ORPHA:813
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency