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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
decreased bone mineral density Mc3rem1(IMPC)Mbp HOM   Early adult 1.28×10-05
abnormal testis morphology Mc3rem1(IMPC)Mbp HOM Early adult 0.00
increased total body fat amount Mc3rem1(IMPC)Mbp HOM Early adult 4.16×10-13
decreased bone mineral content Mc3rem1(IMPC)Mbp HOM   Early adult 2.02×10-11
abnormal skin morphology Mc3rem1(IMPC)Mbp HOM Early adult 0.00
decreased body length Mc3rem1(IMPC)Mbp HOM   Early adult 5.96×10-05
small testis Mc3rem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Mc3rem1(IMPC)Mbp HOM Early adult 0.00
small kidney Mc3rem1(IMPC)Mbp HOM Early adult 0.00
decreased lean body mass Mc3rem1(IMPC)Mbp HOM Early adult 5.62×10-13

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images 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
Overweight, Obesity OMIM:613375
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Obesity
Increased waist to hip ratio, Obesity 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
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... ORPHA:71529
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Tall stature OMIM:618406
Summitt Syndrome
Obesity OMIM:272350
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Obesity And Hypopigmentation
Polyphagia, Overgrowth, Obesity OMIM:620195
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Agi... ORPHA:276575
Narcolepsy Type 1
Obesity ORPHA:2073
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia OMIM:240800
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... ORPHA:369873
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
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
Cyanosis, Obesity OMIM:257500
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short toe, Hyperinsulinemia, Obesity, Type II diabetes mellitus, ... ORPHA:3085
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia ORPHA:79084
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Decreased serum leptin, Obesity OMIM:614962
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Obesity, Aggressive behavior OMIM:616521
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Ataxia... ORPHA:363400
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphol... ORPHA:1988
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Hyperin... OMIM:619326
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior OMIM:614963
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... ORPHA:35878
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... ORPHA:263455
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Broad-based gait, Congenital hip dislocation, Increased T... OMIM:614450
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Perlman Syndrome
Inguinal hernia, Femoral hernia, Micrognathia, Hyperinsulinemia, Tall stature ORPHA:2849
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Acute pancreat... OMIM:151660
Congenital Generalized Lipodystrophy
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Long foot, Adipose tissue loss, ... ORPHA:528
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi... OMIM:608612
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435660
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity ORPHA:411515
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Small for gestational age, Fractured radius, Decreased fibular diameter, Micrognathi... OMIM:616897
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Short Stature, Dauber-Argente Type
Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Fasting hyperinsulinemia OMIM:619489
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Small for gestational age, Hypoglycemia, Rhizomelia, Sandal gap, Shor... OMIM:607143
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Large hands, Severe failure to thrive,... OMIM:246200
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Nephronophthisis 15
Obesity OMIM:614845
Intellectual Developmental Disorder, X-Linked 108
Pes planus, Broad-based gait, Overweight, Difficulty walking, Attention deficit hyperactivity dis... OMIM:301024
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity ORPHA:3077
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Short femur, Foot oligodactyly, Amelia OMIM:601357
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... ORPHA:1227
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:248370
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Agitation, Aggressive behavior, Large for gestational age OMIM:616116
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... OMIM:615238
Mehmo Syndrome
Agitation, Obesity ORPHA:85282
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hyp... ORPHA:2298
Mehmo Syndrome
Small for gestational age, Obesity, Aggressive behavior OMIM:300148
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Trisomy 5P
Obesity ORPHA:1742
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... ORPHA:370010
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Impulsivity, Tapered finger, Inability to walk,... OMIM:615547
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Hip contracture, Inguinal hernia, Pes planus, Micrognathia, Coxa valga, Obesit... OMIM:618363
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior OMIM:617991
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Intellectual Developmental Disorder With Autism And Macrocephaly
Overweight, Recurrent hand flapping, Pica, Tall stature OMIM:615032
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, Ob... ORPHA:79445
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Biemond Syndrome Type 2
Obesity ORPHA:141333
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the... ORPHA:3210
Morbid Obesity And Spermatogenic Failure
Obesity OMIM:615703
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr... OMIM:615363
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Pes planus, Genu recurvatum, Overweight, Inability to walk, Flexion contracture, T... OMIM:614066
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity, Oral-pharyngeal dysphagia ORPHA:480907
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Bradykinesia, Falls, Gait imbalance, Loss of ambulatio... ORPHA:240094
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hyperc... ORPHA:79237
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogonadotropic h... OMIM:176270
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Short femur, Micrognathia, Abnormal foot morphology, Upper limb undergrowth, Flat ... ORPHA:94068
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Rett Syndrome
Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, Increased serum... ORPHA:778
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Alstrom Syndrome
Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to growth hormone st... OMIM:203800
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Bradykinesia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Abnormal repe... OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Ataxia, Micrognathia, Flexion contracture, Small hand, Obesity, Choreoathetosis, Br... OMIM:300055
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity, Aggressive behavior OMIM:614202
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty... OMIM:616222
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... OMIM:100800
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... OMIM:269700
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Tapered finger, Increased body weight, 2-3 toe syndactyly, Gait disturbance, Attenti... ORPHA:589905
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... ORPHA:411511
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Osteoporosis, Cardiomyopathy, Azo... OMIM:235200
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Precocious puberty, Acromicria, Small hand, Obesity, Short foot, Clinodactyly ORPHA:254525
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Decreased skull ossification, Testicular atrophy, Congenital diaphragmatic hernia OMIM:601163
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... ORPHA:412035
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, Dysphagia, Failure to t... OMIM:613327
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Short metacarpal, Short metatarsal, Obesity, Advanced ossificat... OMIM:614613
Pseudopseudohypoparathyroidism
Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Obesity, Enamel hypoplasia, Brachyd... OMIM:612463
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Parkinson Disease 17
Bradykinesia, Akinesia OMIM:614203
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Osteogenesis Imperfecta, Type X
Inguinal hernia, Short femur, Rhizomelia, Bowing of the long bones, Micromelia, Micrognathia, Tib... OMIM:613848
Laurence-Moon Syndrome
Obesity OMIM:245800
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus... ORPHA:79086
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Hyperparathyroidism, Transient Neonatal
Inguinal hernia, Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing, Short long ... OMIM:618188
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Small hand, Obesity, Shor... ORPHA:254531
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
48,Xxyy Syndrome
Pes planus, Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, A... ORPHA:10
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Postaxial hand polydactyly, Obesity, Preaxial foot... ORPHA:65759
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Baralle-Macken Syndrome
Obesity OMIM:619255
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... OMIM:618430
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone lev... OMIM:603233
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Hypoglycemia, Aggressive behavior, Unsteady gait, Flexion contracture... ORPHA:17
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... ORPHA:226313
Laurence-Moon Syndrome
Finger syndactyly, Ataxia, Obesity, Hand polydactyly, Type II diabetes mellitus, Brachydactyly ORPHA:2377
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Shox-Related Short Stature
Micrognathia, Obesity, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb un... ORPHA:314795
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Micrognathia, Obesity, Short foot, Abnormal diaphysis mo... ORPHA:3409
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Obesity, Tall stature OMIM:618089
Luscan-Lumish Syndrome
Polyphagia, Overgrowth, Obesity, Aggressive behavior OMIM:616831
Smith-Magenis Syndrome
Pes planus, Hyperactivity, Abnormality of the thyroid gland, Self hugging, Increased body weight,... OMIM:182290
Perry Syndrome
Bradykinesia, Short stepped shuffling gait, Akinesia, Weight loss OMIM:168605
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyp... ORPHA:71212
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lipodystrophy OMIM:615980
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi... OMIM:602080
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Bradykinesia, Akinesia OMIM:619911
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Short 5th metacarpal ORPHA:66518
Wagr Syndrome
Obesity ORPHA:893
Pde4D Haploinsufficiency Syndrome
Pes planus, Short metacarpal, Broad hallux, Abnormal dental enamel morphology, Micrognathia, Shor... ORPHA:439822
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... ORPHA:769
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Microtriplication 11Q24.1
Obesity, Bruxism ORPHA:289522
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Short metatarsal, Pseudohypoparathyroidism, Obesity, Elevated circul... OMIM:103580
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... ORPHA:98794
Retinitis Pigmentosa 51
Obesity OMIM:613464
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Decreased cir... ORPHA:453533
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact... OMIM:301039
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Elevated circulating thyroid-stimulating hormone concentration, Short metatarsa... OMIM:612462
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
X-Linked Intellectual Disability, Hedera Type
Pes planus, Inability to walk, Unsteady gait, Calcaneovalgus deformity, Obesity, Dysmetria, Absen... ORPHA:93952
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Broad-based gait, Camptodactyly of finger, Cachexia, Aggressive b... ORPHA:85293
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Aggressive behavior OMIM:619056
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Obesity, Aggressive behavior OMIM:620191
Intellectual Developmental Disorder, Autosomal Dominant 53
Unsteady gait, Overgrowth, Short femur, Genu valgum OMIM:617798
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Corticobasal Syndrome
Bradykinesia, Gait disturbance, Akinesia ORPHA:454887
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Obesity, Abnormal temper tantrums, Skin-picking, Self-mutilat... ORPHA:163681
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity ORPHA:2234
Narcolepsy 7
Obesity OMIM:614250
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Short tibia, Short femur, Talipes equinovarus OMIM:620306
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Joint stiffness, Cardiomega... ORPHA:465508
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Absence of sub... OMIM:264090
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Congenital Myopathy 12
Small for gestational age, Akinesia, Jaw contracture, Camptodactyly, Joint contracture of the hand OMIM:612540
Distal 16P11.2 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Increased body weight, Compulsive behaviors, Lethargy, Hypothalamic luteiniz... ORPHA:398069
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Joubert Syndrome 32
Ataxia, Large for gestational age, Postaxial hand polydactyly, Postaxial foot polydactyly, Tall s... OMIM:617757
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Obesity, Dysphagia, Decreased body weight ORPHA:589821
Megalencephaly
Truncal obesity ORPHA:2477
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia, Attention deficit hyperactivi... ORPHA:284180
Atypical Werner Syndrome
Micrognathia, Fasting hyperinsulinemia, Finger clinodactyly, Short palm, Hyperglycemia, Abnormal ... ORPHA:79474
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Flexion contracture, Small hand,... ORPHA:500055
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Finger clinodactyly, Tics, C... ORPHA:508488
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Akinesia OMIM:619334
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty... ORPHA:96184
Catel-Manzke Syndrome
Short humerus, Inguinal hernia, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valg... OMIM:616145
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pedal edema... ORPHA:98793
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Obesity, Knee dislocation, D... OMIM:618395
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Micrognathia, Large for gestational age, Overgrowth, Umbilical hernia OMIM:618272
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Obesity ORPHA:3191
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Pes planus, Broad hallux, Aggressive behavior, 2-3 toe syndactyly, Increased body weight, Short f... OMIM:300860
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pedal edema... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pedal edema... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pedal edema... ORPHA:177901
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ... OMIM:201000
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Failure to thrive, Hypothyroidism, Akinesia OMIM:619147
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Small hand, Obesity, Absen... ORPHA:398079
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Obesity, Hernia, Failure to thrive ORPHA:94065
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Steatorrhea, Hyperinsulinemic hypoglycemia OMIM:602579
Combined Oxidative Phosphorylation Deficiency 54
Obesity OMIM:619737
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia OMIM:300894
Cantu Syndrome
Broad hallux, Short hallux, Large for gestational age, Coxa valga, Metaphyseal widening, Broad fi... OMIM:239850
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, Loss of faci... ORPHA:3455
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619680
Manganese Poisoning
Bradykinesia, Gait disturbance, Akinesia ORPHA:306682
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Akinesia OMIM:607598
Leprechaunism
Reduced subcutaneous adipose tissue, Long foot, Insulin resistance, Hyperinsulinemia, Central hyp... ORPHA:508
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Self-mutilation, Flexion contracture of digit ORPHA:3041
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Abdominal obesity, Aggressive behavior OMIM:300354
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Proportionate tall stature, Aggressive behavior, Obesity ORPHA:404443
Kufor-Rakeb Syndrome
Akinesia, Bradykinesia, Ataxia, Gait disturbance OMIM:606693
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... ORPHA:98855
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Dysphagia, A... OMIM:619312
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
2Q37 Microdeletion Syndrome
Short palm, Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia,... ORPHA:1001
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity OMIM:615418
48,Xxxy Syndrome
Pes planus, Inguinal hernia, Abnormal dental enamel morphology, Down-sloping shoulders, Coxa valg... ORPHA:96263
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Failure to thrive, Akinesia, Truncal ataxia OMIM:618249
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Micrognathia, Flexion contracture, Absen... OMIM:614098
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Truncal obesity, Attention deficit hyperactivity disord... ORPHA:73272
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, In... ORPHA:3312
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Cardiomyopathy, Hypothyro... OMIM:222300
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity, Aggressive behavior OMIM:620250
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... ORPHA:72
Atelis Syndrome 2
Pes planus, Micrognathia, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... OMIM:620185
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Falls, Gait imbalance, Akinesia ORPHA:240071
Pelvis-Shoulder Dysplasia
Waddling gait, Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, C... ORPHA:2839
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Impaired glucose tolerance, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the pha... OMIM:615630
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Senior-Loken Syndrome 9
Obesity OMIM:616629
Fetal Akinesia Deformation Sequence
Arthrogryposis multiplex congenita, Multiple joint contractures, Camptodactyly of finger, Akinesia ORPHA:994
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Elevated circulating lute... OMIM:305400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Obesity ORPHA:86816
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Failure to th... ORPHA:261197
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98863
Turner Syndrome Due To Structural X Chromosome Anomalies
Micrognathia, Glucose intolerance, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of ... ORPHA:99413
Turner Syndrome
Micrognathia, Glucose intolerance, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of ... ORPHA:881
Mosaic Monosomy X
Micrognathia, Glucose intolerance, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of ... ORPHA:99228
Monosomy X
Micrognathia, Glucose intolerance, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of ... ORPHA:99226
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98853
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity, Self-injurious behavior, Attention deficit hyperactivity d... ORPHA:819
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Lipodystrophy, Truncal obesity, Agitation, Decreased body we... OMIM:270450
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Arthrogryposis multiplex congenita, Obesity ORPHA:254346
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Obesity ORPHA:251004
White-Sutton Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Self-injurious beha... OMIM:616364
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Lipoatrophy, Decreased serum leptin, Micrognathia, Flexion contracture, Osteol... OMIM:614008
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Perrault Syndrome 4
Disproportionate tall stature, Obesity OMIM:615300
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Aceruloplasminemia
Diabetes mellitus, Ataxia, Akinesia, Limb ataxia, Gait ataxia ORPHA:48818
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior OMIM:610253
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Agitation, Dysphagia, Enamel hypoplasia, Decreased body weight, Abnormal rep... OMIM:619229
Achondroplasia
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... ORPHA:15
Joubert Syndrome 37
Obesity OMIM:619185
Morgagni-Stewart-Morel Syndrome
Obesity ORPHA:77296
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Rhinitis, Hypoglycemia, Hyperinsulinemia ORPHA:230
Pseudohypoparathyroidism Type 1C
Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:79444
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait ORPHA:247234
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Akinesia OMIM:253290
White-Sutton Syndrome
Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav... ORPHA:468678
Laron Syndrome
Truncal obesity ORPHA:633
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Large for gestational age, Precocious puberty, Tapered finger, Self-injurious be... ORPHA:261652
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Obesity OMIM:105830
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive ORPHA:905
Postencephalitic Parkinsonism
Bradykinesia, Akinesia ORPHA:97349
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Shuffling gait, Akinesia, Weight loss ORPHA:411602
Bardet-Biedl Syndrome 1
Syndactyly, Diabetes mellitus, Ataxia, Postaxial polydactyly, Nephrogenic diabetes insipidus, Ins... OMIM:209900
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Joint contracture, Akinesia OMIM:225790
Momo Syndrome
Overgrowth, Obesity, Tall stature, Large for gestational age ORPHA:2563
Pseudohypoparathyroidism Type 1A
Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:79443
Sotos Syndrome
Pes planus, Tall stature, Aggressive behavior, Long metacarpals, Increased body weight, Genu valg... OMIM:117550
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Agitation OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Agitation OMIM:610475
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity ORPHA:3157
9Q31.1Q31.3 Microdeletion Syndrome
Tapered finger, Overweight, Small hand, Type II diabetes mellitus, Short clavicles ORPHA:401923
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Hernia, Abnormal repetitive mannerisms, Se... ORPHA:261494
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Joubert Syndrome 8
Obesity OMIM:612291
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Tapered finger, Short femur, Short humerus, Dysphagia OMIM:618367
Adiposis Dolorosa
Obesity ORPHA:36397
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Compulsive behaviors OMIM:618443
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial... ORPHA:3138
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Akinesia, Decreased body weight OMIM:608013
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Retinitis Pigmentosa 74
Obesity OMIM:616562
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing... OMIM:300990
Tenorio Syndrome
Hypoglycemia, Recurrent pneumonia, Keratoconjunctivitis sicca, Gait disturbance, Recurrent aphtho... OMIM:616260
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... OMIM:181450
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... OMIM:616078
African Trypanosomiasis
Pericarditis, Akinesia, Keratitis, Myocarditis, Abnormality of the endocrine system, Abnormal gro... ORPHA:3385
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Type ... OMIM:619269
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity ORPHA:127
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Bardet-Biedl Syndrome
Obesity ORPHA:110
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Podagra, Testicular atrophy OMIM:300322
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity, Dysphagia ORPHA:2822
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Obesity OMIM:219090
Low Phospholipid-Associated Cholelithiasis
Overweight, Obesity ORPHA:69663
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Aggressive behavior, Obesity, Truncal obesity, Self-injurious behavior, Attention deficit hyperac... ORPHA:466950
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Arthrogryposis Multiplex Congenita 5
Inguinal hernia, Akinesia, Flexion contracture, Elbow flexion contracture, Camptodactyly, Umbilic... OMIM:618947
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Agitation OMIM:610489
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Small for gestational age, Obesity ORPHA:26793
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Pes planus, Hypoglycemia, Aggressive behavior, Precocious puberty, Tapered finger, Hip dislocatio... OMIM:301066
Down Syndrome
Umbilical hernia, Obesity ORPHA:870
Generalized Pustular Psoriasis
Overweight, Obesity ORPHA:247353
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, ... ORPHA:96253
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Prader-Willi Syndrome Due To Translocation
Obesity, Head-banging, Abnormal temper tantrums, Compulsive behaviors, Attention deficit hyperact... ORPHA:177907
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Recurrent fractures, Ectopic kidney, Cryptorchidism, Osteoporosis, Abnormality of th... ORPHA:3063
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Broad hallux, Maturity-onset diab... ORPHA:96149
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Aggressive behavior, Tongue thrusting, Obesity, Compulsive behaviors, Failure to thrive ORPHA:369950
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss ORPHA:2126
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Adnp Syndrome
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper... ORPHA:404448
Dpagt1-Cdg
Ataxia, Lipodystrophy, Akinesia, Inability to walk, Flexion contracture, Camptodactyly, Failure t... ORPHA:86309
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity OMIM:216550
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:466943
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Female hypogonadism, Decreased serum leptin, Coxa valga, Microg... ORPHA:740
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Inguinal hernia, Short fourth metatarsal, Toe syndactyly, ... OMIM:134780
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Monosomy 13Q34
Obesity ORPHA:96168
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Obesity, Bruxism, Dysphagia, Truncal obesity, Comp... OMIM:615873
Peripartum Cardiomyopathy
Obesity ORPHA:563
Supranuclear Palsy, Progressive, 2
Bradykinesia, Falls, Gait imbalance, Akinesia OMIM:609454
Webb-Dattani Syndrome
Obesity OMIM:615926
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... ORPHA:2968
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Overweight, Repetitive com... OMIM:619475
Cohen Syndrome
Failure to thrive in infancy, Obesity ORPHA:193
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Abnormal repetitive mannerisms, Obesity OMIM:618653
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydipsia... ORPHA:293987
Craniopharyngioma
Polyphagia, Obesity ORPHA:54595
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Delayed epiphyseal ossific... ORPHA:91
Supranuclear Palsy, Progressive, 1
Bradykinesia, Falls, Gait imbalance, Akinesia OMIM:601104
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Xylt1-Cdg
Truncal obesity ORPHA:370930
Neutral Lipid Storage Disease With Ichthyosis
Obesity ORPHA:98907
Dysbetalipoproteinemia
Obesity ORPHA:412
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Attention deficit hyperactivity disorder ORPHA:2637
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Limb joint contracture, Decreased resting energy expenditure, Inabilit... ORPHA:404454
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Inguinal hernia OMIM:616541
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Choreoathetosis, Bradykinesia, Gait disturbance OMIM:234200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Large for gestational age, Abnormal thumb morphology, Metatarsus adductus, Tibia... ORPHA:500095
Chops Syndrome
Obesity OMIM:616368
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Polyphagia, Attention deficit hyperactivity disorder ORPHA:739
Kallmann Syndrome
Obesity ORPHA:478
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353281
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Increased body weight, Fasting hypoglycemia, Delayed puberty, Failure to thrive ORPHA:264580
Thauvin-Robinet-Faivre Syndrome
Pes planus, Inguinal hernia, Bowing of the legs, Large for gestational age, Pedal edema, Large ha... OMIM:617107
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia ORPHA:48652
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger OMIM:619562
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Increased body weight, Ketotic hypoglycemia, Fasting hypoglycemia ORPHA:79240
Alström Syndrome
Pes planus, Dorsocervical fat pad, Decreased response to growth hormone stimulation test, Precoci... ORPHA:64
Pmm2-Cdg
Pes planus, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated c... ORPHA:79318
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity ORPHA:369837
White-Kernohan Syndrome
Obesity, Attention deficit hyperactivity disorder OMIM:619426
Bardet-Biedl Syndrome 20
Obesity OMIM:619471
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity, Enamel hypoplasia OMIM:210720
Sheehan Syndrome
Obesity ORPHA:91355
Liver Disease, Severe Congenital
Chronic gastritis, Inguinal hernia, Pneumonia, Eczema, Abnormal circulating thyroid hormone conce... OMIM:619991
Pallister-Hall Syndrome
Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Paroxysmal bursts of laug... ORPHA:672
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy, Aggressive behavior ORPHA:529962
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Micrognathia, Aplastic c... ORPHA:2636
Kabuki Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Gaisböck Syndrome
Overweight, Obesity ORPHA:90041
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity, Flexion contracture, Limb joint contracture OMIM:301072
Bloom Syndrome
Adipose tissue loss, Abdominal obesity, Small for gestational age ORPHA:125
1P36 Deletion Syndrome
Camptodactyly of finger, Polyphagia, Obesity, Self-injurious behavior, Dysphagia, Failure to thri... ORPHA:1606
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Chronic Thromboembolic Pulmonary Hypertension
Obesity, Hypocapnia ORPHA:70591
22Q11.2 Deletion Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Attention deficit hyperactivity diso... ORPHA:567
Carney Complex
Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma,... ORPHA:1359
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... ORPHA:353277
Xq21 Microdeletion Syndrome
Obesity ORPHA:1435
Myhre Syndrome
Small for gestational age, Obesity, Camptodactyly OMIM:139210
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Large for gestational age, Obesity... ORPHA:116
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Obesity, Camptodactyly, Dysphagia, Polyphagia, Self... OMIM:607872
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Obesity OMIM:614231
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Rubinstein-Taybi Syndrome 1
Hyperactivity, Small for gestational age, Impulsivity, Flexion contracture, Truncal obesity, Kelo... OMIM:180849
Lysinuric Protein Intolerance
Truncal obesity, Failure to thrive OMIM:222700
Neutral Lipid Storage Myopathy
Obesity ORPHA:98908
Witteveen-Kolk Syndrome
Hyperactivity, Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Aggre... OMIM:613406
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Obesity ORPHA:444077
Meningioma
Obesity ORPHA:2495
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Bifid femur, Aplasia/hypoplasia of the femur, Clinodactyly of th... ORPHA:2769
Hellp Syndrome
Increased body weight ORPHA:244242
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity OMIM:617157
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity ORPHA:1772
Carpenter Syndrome 2
Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture OMIM:614976
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Obesity, Attention deficit hyperactivity disorder, Umbilical hernia OMIM:188400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Self-injurious behavior, Camptodactyly, Failure to thrive, Abnormal repetitive m... OMIM:612474
Williams Syndrome
Inguinal hernia, Failure to thrive in infancy, Abnormal dental enamel morphology, Obesity, Compul... ORPHA:904
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Flexion contracture OMIM:619321
Williams-Beuren Syndrome
Inguinal hernia, Failure to thrive in infancy, Flexion contracture, Obesity, Attention deficit hy... OMIM:194050
Primrose Syndrome
Restlessness, Hip contracture, Aggressive behavior, Flexion contracture, Knee flexion contracture... OMIM:259050
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Compulsive behaviors, Attention deficit hyperac... ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Paroxysmal bursts of laughter, Obesity OMIM:309580
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp... OMIM:601803

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 Mc3r

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 Mc3r.

No publications found that use IMPC mice or data for Mc3r.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mc3rtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mc3rtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mc3rtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mc3rem1(IMPC)Mbp Whole-gene deletion Mice

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