Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
CEA cell adhesion molecule 2
Synonyms:
Bgp2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ceacam2 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.

The table below shows human diseases associated to Ceacam2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Fibrosis
Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis ORPHA:586

The table below shows human diseases predicted to be associated to Ceacam2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... OMIM:617885
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty ORPHA:140941
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Decreased ci... ORPHA:171706
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia, Tall stature OMIM:618406
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Insulin resistance, Obesit... OMIM:615703
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Generalized ... OMIM:612526
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Muscular dystrophy, Lower limb muscle weakness, Lipodystrophy,... OMIM:615980
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Skeletal muscle hypertrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant ... OMIM:613877
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... OMIM:614963
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Skeletal muscle hypertrop... ORPHA:435660
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... ORPHA:79085
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity OMIM:614962
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Temple Syndrome
Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormone stimulation t... ORPHA:254516
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Polyphagia, Adrenocortical adenoma OMIM:248100
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Macroglossia, S... ORPHA:528
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Skeletal muscle hypertrophy, Loss of gluteal subcutan... ORPHA:435651
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipoatrophy, Myopathy ORPHA:79087
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... ORPHA:99886
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Pancreatitis, Hepatomegaly, Insulin resistance, Skeletal muscle hypertrophy, Splenom... ORPHA:79083
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Pancreatitis, Cellulitis, Skeletal muscle hypertrophy, Hepatomegaly, Splenomegaly, A... ORPHA:2348
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity ORPHA:791
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia OMIM:615986
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Diabetes mellitus OMIM:144800
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Lipodystrophy, Hypertriglyceridemia, Diabetes mellitus, Insuli... OMIM:615381
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... OMIM:606407
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia,... OMIM:615238
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Primary Lipodystrophy
Hyperlipidemia, Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Skeletal muscle hypertrophy... ORPHA:90970
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Goite... OMIM:275000
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Loss of subcutane... ORPHA:280365
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Generalized lipodystrophy, Calf muscle pseudohypertrop... ORPHA:79086
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Tall stature, Femo... ORPHA:2849
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... ORPHA:263455
Placental Insufficiency
Insulin resistance, Hypoxemia, Small for gestational age ORPHA:439167
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Insulin resistance, Skele... OMIM:613327
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Schaaf-Yang Syndrome
Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex congenita, Hypogonadism,... OMIM:615547
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... OMIM:246200
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity OMIM:618160
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... ORPHA:2298
Familial Multiple Lipomatosis
Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98754
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia OMIM:616521
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Hypoglycemia, M... OMIM:300148
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98793
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177901
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Small pituit... ORPHA:398079
Bardet-Biedl Syndrome 2
Obesity, Hypogonadism, Diabetes mellitus OMIM:615981
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia ORPHA:411515
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism OMIM:615983
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism ORPHA:85274
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss ORPHA:70482
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Prader-Willi-Like Syndrome
Failure to thrive, Abnormality of the endocrine system, Precocious puberty, Decreased circulating... ORPHA:398073
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... OMIM:214150
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... ORPHA:785
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... OMIM:615954
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... ORPHA:73272
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Graves disease, Hepatomegaly, Splenomegaly, Increased circulating ... ORPHA:525731
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Flexion cont... ORPHA:398069
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Narcolepsy Type 1
Obesity ORPHA:2073
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:144600
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperchole... ORPHA:77296
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Elevated circulating growth hormone concentration, Tall stature, Overgrowth, I... OMIM:300942
Huntington Disease
Decreased body mass index, Polyphagia, Weight loss, Choking episodes, Oral-pharyngeal dysphagia ORPHA:399
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... ORPHA:739
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... OMIM:203800
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Secondary Short Bowel Syndrome
Failure to thrive, Steatorrhea, Cholestasis, Polyphagia, Primary hypothyroidism, Weight loss, Cen... ORPHA:95427
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... ORPHA:54595
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189427
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Seckel Syndrome 10
Glucose intolerance, Elevated circulating luteinizing hormone level, Glycosuria, Impaired glucose... OMIM:617253
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... ORPHA:96184
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Hypogonadotropic hypogonadism, Absence of pubertal development, Diabetes mellitus OMIM:610628
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... ORPHA:3163
Prader-Willi Syndrome
Abdominal obesity, Adrenal insufficiency, Hyperinsulinemia, Type II diabetes mellitus, Precocious... OMIM:176270
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Laron Syndrome
Abnormality of the endocrine system, Truncal obesity, Hypohidrosis, Hypoglycemia, Delayed puberty... ORPHA:633
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Obesity, Hypogonadotropic hypogonadism, Decreased circulating cortisol level OMIM:600955
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Abnormality of the thyroid gland, Eunuchoid habitus, Hypogonadism, Obe... ORPHA:2234
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189439
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Polydipsia, Precocious puberty, ... ORPHA:769
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Bardet-Biedl Syndrome 16
Obesity, Hypogonadism OMIM:615993
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hyperlipidemia, Adrenocorticotropic hormone deficiency, Decreased response to growth ... ORPHA:293987
Pick Disease Of Brain
Polyphagia OMIM:172700
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Obesity, Type II diabetes mellitus OMIM:618620
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... OMIM:233805
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Central Precocious Puberty
Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c... ORPHA:759
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Aromatase Deficiency
Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Tall stature, Hypergonadotropic hyp... ORPHA:91
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98855
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,... ORPHA:79319
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Insulin resistance, ... OMIM:606721
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Steatorrhea, Cirrhosis, Hepatic f... OMIM:602579
Silver-Russell Syndrome
Precocious puberty, Decreased muscle mass, Cachexia, Hyperhidrosis, Insulin resistance, Recurrent... ORPHA:813
Frontotemporal Dementia
Polyphagia OMIM:600274
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Werner Syndrome
Slender build, Type II diabetes mellitus, Lipoatrophy, Thyroid carcinoma, Chondrocalcinosis, Lipo... ORPHA:902
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia, Biliary tract abnormality ORPHA:3191
Immunodeficiency 61
Obesity OMIM:300310
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance ORPHA:90154
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... OMIM:615830
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Hypogonadism ORPHA:261483
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Dysbetalipoproteinemia
Hepatomegaly, Tendon xanthomatosis, Hypothyroidism, Hypertriglyceridemia, Acute pancreatitis, Xan... ORPHA:412
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Anhidrosis, Delayed puberty, Obesity, Abnormal dental enamel morphology ORPHA:251004
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98853
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Lower limb muscle weakness, Hyperglycemia OMIM:619737
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatomegaly, Splenomegaly, Cholestasis, Impaired glucose tolerance, Hepatic... OMIM:615630
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Truncal obesity, Obesity, Amelogenesis imperfecta OMIM:618363
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... ORPHA:71212
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
48,Xxyy Syndrome
Type II diabetes mellitus, Inguinal hernia, Tall stature, Hypergonadotropic hypogonadism, Obesity... ORPHA:10
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Bardet-Biedl Syndrome 19
Obesity, Hypogonadism OMIM:615996
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Luscan-Lumish Syndrome
Obesity, Polyphagia, Overgrowth OMIM:616831
Whipple Disease
Polydipsia, Hepatomegaly, Splenomegaly, Cachexia, Myositis, Hypothyroidism, Insulin resistance ORPHA:3452
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Macroglossia, Increased body mass index, Congenital hypo... OMIM:614450
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Summitt Syndrome
Obesity OMIM:272350
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity, Lipoma, Oral-pharyngeal dysphagia ORPHA:480907
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Truncal obesity, Hypothyroidism, Diabetes mellitus, Insulin resistance OMIM:616541
Gangliocytoma
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... ORPHA:251937
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Biemond Syndrome Type 2
Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypogonadism ORPHA:141333
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Leprechaunism
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Failure to thrive, Hyperinsuline... ORPHA:508
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Increased circulating ACTH level, Impa... OMIM:219090
Trisomy 18P
Polyphagia, Facial palsy ORPHA:1715
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Left ventricular hypertrophy, Truncal obesity,... OMIM:209900
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Bardet-Biedl Syndrome 4
Obesity, Hypogonadism OMIM:615982
Spastic Paraplegia 11, Autosomal Recessive
Lower limb muscle weakness, Thenar muscle atrophy, Dysphagia, Obesity, Skeletal muscle atrophy OMIM:604360
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Gitelman Syndrome
Neoplasm of the pancreas, Glucose intolerance, Polydipsia, Type II diabetes mellitus, Failure to ... ORPHA:358
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Failure to thrive, Precocious puberty, Oral aversion, Decreased response to growth hormone stimul... ORPHA:96182
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Proximal ... ORPHA:453533
Angelman Syndrome
Precocious puberty in females, Delayed menarche, Polyphagia, Dysphagia, Obesity ORPHA:72
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... ORPHA:94086
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Monosomy 13Q34
Insulin resistance, Obesity, Hepatic steatosis ORPHA:96168
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Atypical Werner Syndrome
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Hypogonadism, Skeletal mus... ORPHA:79474
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Decreased body weight, Truncal obesity, Lipodystrophy, Diabe... OMIM:270450
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Small for gestational age, Hypogon... OMIM:300869
Cortisone Reductase Deficiency 1
Obesity, Precocious puberty OMIM:604931
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Obesity, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Summitt Syndrome
Obesity, Camptodactyly of finger, Tall stature ORPHA:3210
Trisomy 5P
Obesity ORPHA:1742
Bangstad Syndrome
Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus, Small for gestational... OMIM:210740
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Weaver Syndrome
Diastasis recti, Joint contracture of the hand, Inguinal hernia, Overgrowth, Camptodactyly, Polyp... OMIM:277590
Morm Syndrome
Truncal obesity ORPHA:75858
Septo-Optic Dysplasia Spectrum
Polydipsia, Abnormality of the hypothalamus-pituitary axis, Maternal diabetes, Hypohidrosis, Obes... ORPHA:3157
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Ataxia-Oculomotor Apraxia Type 4
Obesity, Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy ORPHA:459033
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Obesity, Polyphagia OMIM:612469
Rafiq Syndrome
Obesity, Truncal obesity, Flexion contracture OMIM:614202
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism OMIM:612463
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:2233
Woodhouse-Sakati Syndrome
Hyperlipidemia, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response ... ORPHA:3464
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Bardet-Biedl Syndrome 8
Obesity, Hypogonadism OMIM:615985
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Foot dorsiflexor weakness OMIM:618124
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia, Macroglossia OMIM:156200
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... OMIM:219080
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity, Hypogonadism OMIM:268050
7Q11.23 Microduplication Syndrome
Obesity, Polyphagia, Congenital diaphragmatic hernia, Inguinal hernia ORPHA:96121
48,Xxxy Syndrome
Type II diabetes mellitus, Inguinal hernia, Tall stature, Hypogonadism, Obesity, Abnormal dental ... ORPHA:96263
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Precocious puberty ORPHA:254525
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Small for gestational age, Hypoketotic hypoglycemia, Exercise-induced rha... ORPHA:26793
Chung-Jansen Syndrome
Obesity OMIM:617991
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Enamel hypoplasia, Hypothyroidism, Hypogonadism, ... OMIM:612462
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Down Syndrome
Type II diabetes mellitus, Macroglossia, Hypothyroidism, Umbilical hernia, Obesity ORPHA:870
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Puberty and gonadal disorders ORPHA:464282
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Steinert Myotonic Dystrophy
Facial diplegia, Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Hypergonadotropic hypogona... ORPHA:273
Bloom Syndrome
Abdominal obesity, Small for gestational age, Adipose tissue loss, Diabetes mellitus, Insulin res... ORPHA:125
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Wrist flexion contracture, Male hypogonadism, Obesity, Facial hypotonia OMIM:300055
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
15Q24 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Decreased response to growth hormone stimulat... ORPHA:94065
19P13.12 Microdeletion Syndrome
Precocious puberty, Hyperlipidemia, Hypothyroidism, Arthrogryposis multiplex congenita, Obesity, ... ORPHA:254346
Nephronophthisis 15
Obesity OMIM:614845
Urban-Rogers-Meyer Syndrome
Obesity, Camptodactyly of finger, Flexion contracture of toe, Hypogonadism ORPHA:3409
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Hypertriglyceridemia, Acute hepatic steatosis, Hep... ORPHA:209902
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased body weight, Limb-girdle m... ORPHA:79240
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Clark-Baraitser Syndrome
Obesity OMIM:617752
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Flexion contracture of digit, Truncal obesity, Hypogonadism,... ORPHA:3041
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Obesity, Sk... OMIM:615418
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Hypertriglyceridemia, Delayed puberty, Hypercholesterolemia, ... ORPHA:819
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Enamel hypoplasia, Hypothyroidism, Hypogonadism, ... OMIM:103580
Adnp Syndrome
Inguinal hernia, Truncal obesity, Polyphagia, Umbilical hernia, Oral-pharyngeal dysphagia ORPHA:404448
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Increased sarcoplasmic glycogen, Choles... ORPHA:264580
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Baralle-Macken Syndrome
Obesity OMIM:619255
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Congenital Analbuminemia
Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, Obesity ORPHA:86816
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity, Abnormality of the endocrine system, Pseudohypoparathyroidism ORPHA:464288
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Abnormal muscle fiber morphology, Hyperthyroidism, Lo... ORPHA:79102
Gaisböck Syndrome
Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hypercholesterolemia, Obe... ORPHA:90041
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Macroglossia, Delayed puberty, Distal lower limb amyotrophy, Hypogonadism OMIM:300354
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia, Obesity OMIM:608624
Peripartum Cardiomyopathy
Obesity, Abnormality of thyroid physiology, Left ventricular hypertrophy, Diabetes mellitus ORPHA:563
Perrault Syndrome 4
Hypoplasia of the ovary, Disproportionate tall stature, Decreased serum estradiol, Obesity, Incre... OMIM:615300
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Abnormality of the liver, Camptodactyly of finger, Abnormali... ORPHA:1606
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
Senior-Loken Syndrome 9
Obesity, Hepatic fibrosis, Cholestasis, Hypogonadism OMIM:616629
Cushing Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:96253
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Pseudohypoparathyroidism OMIM:617157
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... ORPHA:2126
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hypergonadotropic hypogo... ORPHA:64
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Obesity, Abnormal dental enamel morphology ORPHA:439822
Wagr Syndrome
Obesity ORPHA:893
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:363741
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hypogonadism OMIM:601794
Atkin-Flaitz Syndrome
Obesity, Tall stature OMIM:300431
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Cholestatic liv... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Cholestatic liv... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Cholestatic liv... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Cholestatic liv... ORPHA:99226
X-Linked Intellectual Disability, Hedera Type
Obesity, Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Shox-Related Short Stature
Obesity, Skeletal muscle hypertrophy ORPHA:314795
Bardet-Biedl Syndrome 17
Obesity, Polydipsia, Hypogonadism OMIM:615994
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:284180
White-Sutton Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Hypoglycemic seizures, Obesity, Facial hypotonia OMIM:616364
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Type I diabetes mellitus, Precocious puberty, Dentinogenesis imperfecta OMIM:619269
Radio-Tartaglia Syndrome
Dysphagia, Obesity, Precocious puberty OMIM:619312
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Obesity... ORPHA:457059
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity, Abnormal dental enamel morphology ORPHA:2180
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Polysplenia, Obesity OMIM:610543
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity, Hypogonadism ORPHA:127
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hepatic fibrosis, Hypogonadism, Obesity, Skeletal muscle atrophy ORPHA:110
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
EMG: myopathic abnormalities, Obesity OMIM:618822
Rett Syndrome
Failure to thrive, Increased serum leptin, Skeletal muscle atrophy, Cholecystitis ORPHA:778
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Female hypogonadism, Delayed menarche, Cyanosis, Pubertal developmental... ORPHA:740
X-Linked Non-Syndromic Intellectual Disability
Obesity, Facial palsy, Small for gestational age ORPHA:777
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Meningioma
Enlarged pituitary gland, Decreased serum testosterone concentration, Reduced circulating prolact... ORPHA:2495
Angelman Syndrome Due To A Point Mutation
Dysphagia, Obesity, Abnormal eating behavior ORPHA:411511
Joubert Syndrome 37
Obesity, Hepatomegaly OMIM:619185
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Carpenter Syndrome 1
Precocious puberty, Joint contracture of the hand, Camptodactyly, Umbilical hernia, Omphalocele, ... OMIM:201000
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Cachexia, Camptodactyly of finger, Hypogonadism, Obesity, Hyperhidrosis ORPHA:85293
Macrocephaly/Autism Syndrome
Obesity, Hepatomegaly, Splenomegaly OMIM:605309
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Obesity, Umbilical hernia, Proportionate tall stature ORPHA:404443
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Precocious puberty, Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Hypoglycemia... OMIM:301066
Adiposis Dolorosa
Hypothyroidism, Obesity, Xerostomia ORPHA:36397
Distal Monosomy 12Q
Annular pancreas, Pituitary adenoma, Congenital hypertrophy of left ventricle, Proportionate tall... ORPHA:96149
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Congenital hypothyroidism, Camptodactyly, Hypothyroidism, Polyphagia, Dy... OMIM:607872
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Tall stature, Large for gestatio... ORPHA:116
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Megalencephaly
Truncal obesity ORPHA:2477
Acrodysostosis With Multiple Hormone Resistance
Elevated calcitonin, Decreased response to growth hormone stimulation test, Elevated circulating ... ORPHA:280651
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Truncal obesity, Small for gestational age OMIM:300957
Achondroplasia
Hypoxemia, Obesity ORPHA:15
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Cohen Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Childhood-onset... OMIM:216550
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Obesity, Abnormal eating behavior ORPHA:98794
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Precocious puberty, Type II diabetes mellitus, Truncal obesity OMIM:210720
Ring Chromosome Y Syndrome
Obesity, Male hypogonadism, Streak ovary ORPHA:261529
Helsmoortel-Van Der Aa Syndrome
Obesity, Decreased response to growth hormone stimulation test OMIM:615873
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Macroglossia, Inguinal hernia, Femoral hernia, Obesity ORPHA:96147
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Kohlschutter-Tonz Syndrome-Like
Decreased body weight, Enamel hypoplasia, Overweight, Dysphagia, Obesity, Amelogenesis imperfecta OMIM:619229
2Q37 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1001
Autosomal Recessive Spastic Paraplegia Type 11
Lower limb muscle weakness, Distal amyotrophy, Generalized limb muscle atrophy, Dysphagia, Obesit... ORPHA:2822
Desbuquois Dysplasia 1
Obesity OMIM:251450
Momo Syndrome
Large for gestational age, Obesity, Overgrowth, Tall stature ORPHA:2563
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Macroglossia OMIM:616260
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion contracture OMIM:614008
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
Kennerknecht syndrome
Abdominal obesity, Omphalocele OMIM:600908
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Hepatomegaly OMIM:618443
Bardet-Biedl Syndrome 20
Obesity, Pancreatitis, Male hypogonadism, Hypercholesterolemia OMIM:619471
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity, Streak ovary OMIM:194072
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Obesity OMIM:619680
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Abdominal obesity, Disproportionate tall stature, Camptodactyly OMIM:301039
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity, Precocious puberty, Hepatomegaly ORPHA:163681
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Obesity, Hypoparathyroidism, Precocious puberty ORPHA:369837
Kallmann Syndrome
Hypogonadotropic hypogonadism, Anterior hypopituitarism, Hypothalamic gonadotropin-releasing horm... ORPHA:478
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Obesity, Elbow flexion contracture OMIM:618493
Angelman Syndrome
Obesity, Macroglossia OMIM:105830
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Limb hypertonia, Lower limb hypertonia OMIM:617296
White-Sutton Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Ventral hernia, Obesity, Facial hypotonia ORPHA:468678
Kleefstra Syndrome
Obesity, Hernia, Macroglossia ORPHA:261494
Kleefstra Syndrome 1
Obesity, Macroglossia OMIM:610253
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Hernia of the abdominal wall, Camptodactyly of finger, De... ORPHA:3138
Momo Syndrome
Obesity, Overgrowth OMIM:157980
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Joubert Syndrome 8
Obesity, Hepatomegaly, Prolonged neonatal jaundice OMIM:612291
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity OMIM:600122
Liver Disease, Severe Congenital
Failure to thrive, Exocrine pancreatic insufficiency, Hyperinsulinemic hypoglycemia, Hepatomegaly... OMIM:619991
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Impaired oro... ORPHA:404454
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Cohen Syndrome
Obesity, Failure to thrive in infancy, Delayed puberty ORPHA:193
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Obesity, Macroglossia OMIM:141750
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Micronodular cirrhosis, Flexion contracture, Splenomegaly, Truncal obesity, Lower l... OMIM:301072
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Carney Complex
Abdominal obesity, Increased circulating insulin-like growth factor 1 concentration, Pituitary gr... ORPHA:1359
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Macroglossia, Hypothyroidism, Obesity, Hyp... ORPHA:444077
Xq21 Microdeletion Syndrome
Abnormality of the Achilles tendon, Decreased response to growth hormone stimulation test, Anteri... ORPHA:1435
Pmm2-Cdg
Multiple joint contractures, Failure to thrive, Hyperinsulinemia, Elevated circulating growth hor... ORPHA:79318
Chops Syndrome
Obesity, Splenomegaly OMIM:616368
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Dysphagia, Obesity, Truncal obesity ORPHA:466950
Prader-Willi Syndrome Due To Translocation
Obesity, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, An... ORPHA:177907
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity, Macroglossia, Abnormality of the pineal gland ORPHA:369950
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity ORPHA:2637
Kabuki Syndrome
Failure to thrive, Precocious puberty, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Partial Deletion Of The Short Arm Of Chromosome 7
Dysphagia, Flexion contracture of thumb, Obesity ORPHA:261911
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Failure to thrive, Cholelithiasis, Inguinal hernia, Hyperthyroidism, Splenome... ORPHA:567
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Streak ovary, Muscle hypertrophy of the lower extremi... ORPHA:1772
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dysphagia, Obesity ORPHA:466943
Williams-Beuren Syndrome
Glucose intolerance, Inguinal hernia, Flexion contracture, Early onset of sexual maturation, Hypo... OMIM:194050
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Failure to thrive, Decreased body weight, Jaundice, Delayed puberty, Obesity, Hepati... OMIM:619475
Witteveen-Kolk Syndrome
Type II diabetes mellitus, Congenital diaphragmatic hernia, Inguinal hernia, Small for gestationa... OMIM:613406
Digeorge Syndrome
Decreased circulating parathyroid hormone level, Cholelithiasis, Inguinal hernia, Splenomegaly, H... OMIM:188400
Myhre Syndrome
Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Small for gestational age, Camptodac... OMIM:139210
1P21.3 Microdeletion Syndrome
Obesity, Abnormal eating behavior ORPHA:293948
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Lysinuric Protein Intolerance
Failure to thrive, Hepatomegaly, Pancreatitis, Splenomegaly, Truncal obesity, Skeletal muscle atr... OMIM:222700
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Primrose Syndrome
Hip contracture, Glucose intolerance, Flexion contracture, Hypergonadotropic hypogonadism, Trunca... OMIM:259050
Williams Syndrome
Cholelithiasis, Type II diabetes mellitus, Precocious puberty, Inguinal hernia, Macroglossia, Hyp... ORPHA:904
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Inguinal hernia OMIM:618653
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Obesity OMIM:250420
Chronic Thromboembolic Pulmonary Hypertension
Obesity, Hypocapnia ORPHA:70591
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Elbow flexion contracture, Delayed puberty, Obesity... OMIM:181450
Rubinstein-Taybi Syndrome 1
Failure to thrive, Flexion contracture, Small for gestational age, Premature thelarche, Accessory... OMIM:180849
17Q24.2 Microdeletion Syndrome
Pineal cyst, Failure to thrive in infancy, Truncal obesity ORPHA:529962
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Monosomy 22Q13.3
Obesity, Hypohidrosis, Umbilical hernia ORPHA:48652
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis, Flexion contracture OMIM:619321
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Obesity, Lower limb hypertonia, Macroglossia, Hypogonadism OMIM:309580
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Keloids, Failure to thrive, Obesity ORPHA:353281
Carpenter Syndrome 2
Diaphragmatic eventration, Camptodactyly, Knee flexion contracture, Umbilical hernia, Obesity OMIM:614976
Cornelia De Lange Syndrome
Delayed puberty, Failure to thrive, Congenital diaphragmatic hernia, Truncal obesity ORPHA:199
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Keloids, Failure to thrive, Obesity, Corneal scarring ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Keloids, Failure to thrive, Obesity, Corneal scarring ORPHA:353277
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Flexion contracture, Macroglossia, Camptodactyl... OMIM:601803
Cystic Fibrosis
Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis ORPHA:586

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 Ceacam2

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 Ceacam2.

No publications found that use IMPC mice or data for Ceacam2.

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MGI Allele Allele Type Produced
Ceacam2tm103392(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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