Gene Summary

Name:
cholecystokinin B receptor
Synonyms:
CCK-B/gastrin receptor,  CCK2R,  CCKR-2,  CCK2/gastrin

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal autopod morphology Cckbrem1(IMPC)H HOM Early adult 2.72×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Human diseases caused by Cckbr 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 Cckbr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co... OMIM:620121
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Stomac... ORPHA:2494
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Central Diabetes Insipidus
Depression, Diarrhea, Polydipsia, Fever, Hyponatremia, Anorexia, Diabetes insipidus ORPHA:178029
Schizophrenia 15
Hyperactivity OMIM:613950
Visceral Myopathy 2
Gastroesophageal reflux, Intestinal pseudo-obstruction, Gastroparesis, Esophagitis, Ineffective e... OMIM:619350
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Polydipsia, Fever, Irritability, Diabetes insipidus ORPHA:30925
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition OMIM:277320
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 77
Gastroparesis OMIM:619223
Kleine-Levin Syndrome
Depression, Polydipsia, Fever, Abnormal eating behavior, Sweet craving, Irritability, Polyphagia,... ORPHA:33543
Obesity
Decreased resting energy expenditure OMIM:601665
Aceruloplasminemia
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
Type 1 Diabetes Mellitus
Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Diabetes mellitus OMIM:222100
Dubin-Johnson Syndrome
Fever, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, H... ORPHA:234
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Recurrent fever, Hyperleucinemia, Hyperammonemia, Polyphagia, Hypervalinemia, Increased blood ure... OMIM:620085
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Splenomegaly, Elevated hepatic iron c... OMIM:615234
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Polydipsia, Bronchiectasis, Recurrent fever OMIM:619468
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Fever, Abnormal gastric mucosa morphology, Skin rash, Infect... ORPHA:779
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Mungan Syndrome
Gastroparesis, Abdominal pain, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:98754
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:300298
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Emotional blunting, Motor stereo... OMIM:172700
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hypogonadism, Hepatosp... ORPHA:231222
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Focal pancreati... ORPHA:276575
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Unexplained fevers, Vomiting, Polydipsia, Irritability, Constipation, Diabetes insipidus, Hyperna... OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Unexplained fevers, Vomiting, Polydipsia, Irritability, Constipation, Nephrogenic diabetes insipi... OMIM:125800
Huntington Disease
Depression, Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Hostility,... ORPHA:399
Young-Onset Parkinson Disease
Diarrhea, Gastroparesis, Restless legs, Impulsivity, Constipation, Nausea, Agitation ORPHA:2828
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Elevated hepatic iron concentration OMIM:206100
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Central hypothyroidism, Cholestasis, Villous atrophy, Abnormal smal... ORPHA:95427
Oculogastrointestinal Muscular Dystrophy
Gastroparesis, Malabsorption, Intestinal pseudo-obstruction, Abdominal distention ORPHA:1876
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... ORPHA:66624
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Excessive insulin response to glucagon test, Agitation, Pol... ORPHA:276556
Whipple Disease
Ataxia, Gastrointestinal hemorrhage, Diarrhea, Polydipsia, Depression, Uveitis, Fever, Splenomega... ORPHA:3452
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Hepatic steatosis OMIM:620195
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Hyperinsulinemia ORPHA:329249
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Hyperactive bowel... OMIM:603041
Cystinosis
Type I diabetes mellitus, Vomiting, Polydipsia, Fever, Portal hypertension, Hypokalemia, Hypophos... ORPHA:213
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Familial Hyperaldosteronism Type I
Polydipsia, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppressible pri... ORPHA:403
Visceral Myopathy 1
Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Abd... OMIM:155310
Familial Cold Urticaria
Polydipsia, Fever, Arthritis, Conjunctivitis, Dysesthesia ORPHA:47045
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Resting tremor, Congestive heart failure, Obesity, Tremor, Irrita... ORPHA:3077
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Vomiting, Xerostomia, Decreased ... ORPHA:739
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Irritability, Polyphagia, Increased circul... OMIM:275000
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Diarrhea, Keratitis, Graves ... ORPHA:525731
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Recurrent pneumonia, Decreased serum leptin OMIM:614962
Obesity Due To Prohormone Convertase I Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71526
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
East Syndrome
Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Ataxia, Increased circ... ORPHA:199343
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent fever, Recurrent otitis media, Hyperbilirubinemia, Hepat... OMIM:619991
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Irritability, Disinhibition OMIM:600274
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Hypertriglyceridemia OMIM:617885
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Emotional labili... OMIM:614963
Hartnup Disorder
Episodic ataxia, Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Glo... OMIM:234500
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Hyperinsulinemia ORPHA:369873
Glycine Encephalopathy 1
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Nephrogenic Diabetes Insipidus
Polydipsia, Fever, Constipation, Nephrogenic diabetes insipidus, Anorexia, Hypernatremia ORPHA:223
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroparesis, Gastroesophageal reflux, Constipation OMIM:610131
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Constipation, Hyperactivity, ... ORPHA:228402
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulation in l... OMIM:614946
Proximal Spinal Muscular Atrophy
Gastroesophageal reflux, Gastroparesis, Constipation, Dysphagia, Poor suck ORPHA:70
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Nausea, Glucocortocoid-... ORPHA:251274
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Inappropriate laughter, Hyperactivity, Ataxia ORPHA:411515
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia OMIM:613677
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Nausea, Glucocor... ORPHA:231580
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Nau... ORPHA:369929
Gitelman Syndrome
Vomiting, Polydipsia, Recurrent fever, Hypomagnesemia, Paresthesia, Hypokalemia, Salt craving, Co... OMIM:263800
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Gastroparesis, Dysphagia, Hypergonadotropic hypogonadism OMIM:157640
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Polydipsia, Adrenocorticotropin d... ORPHA:95513
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyperb... OMIM:609734
Mgat2-Cdg
Gastroesophageal reflux, Gastroparesis, Gastrostomy tube feeding in infancy, Stereotypical hand w... ORPHA:79329
Phenylketonuria
Depression, Eczematoid dermatitis, Self-mutilation, Irritability, Maternal hyperphenylalaninemia,... OMIM:261600
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gastroparesis, Bowel incontinence OMIM:618877
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abdominal distention, Dysphagia ORPHA:85443
Hyperparathyroidism, Neonatal Severe
Polydipsia, Elevated circulating parathyroid hormone level, Splenomegaly, Hypophosphatemia, Const... OMIM:239200
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Ataxia, Dysdiadochokin... OMIM:612780
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Emotional lability, Hypother... ORPHA:293987
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gastroparesis, Intestinal pseudo-obstruction ORPHA:70595
Intellectual Developmental Disorder, Autosomal Dominant 67
Gastroesophageal reflux, Attention deficit hyperactivity disorder, Motor tics, Hypothyroidism, Hy... OMIM:619927
Apparent Mineralocorticoid Excess
Polydipsia, Abnormality of circulating cortisol level, Decreased circulating renin level, Hypokal... ORPHA:320
Joubert Syndrome 10
Polyphagia, Frequent temper tantrums, Dysmetria, Recurrent fever OMIM:300804
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroesophageal reflux, Goiter, Gastroparesis, Constipation, Hypothyroidism, Hyperthyroidism, Dy... ORPHA:254892
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Helix Syndrome
Hypermagnesemia, Hyperparathyroidism, Xerostomia, Polydipsia, Heat intolerance, Hypokalemia OMIM:617671
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Citrullinemia Type Ii
Diarrhea, Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Mania, Hypopro... ORPHA:247585
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Aggressive behavior, Self-mutilation OMIM:616521
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Abnormality of exocrine panc... ORPHA:93111
Trisomy 18P
High, narrow palate, Polyphagia, Attention deficit hyperactivity disorder, Pyloric stenosis ORPHA:1715
Bronchogenic Cyst
Pneumonia, Fever, Abnormal stomach morphology, Paresthesia, Abnormal esophagus morphology, Abnorm... ORPHA:2357
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Depression, Abnormal fear-induced behavior, Increased fecal coproporphyrin 3, Abnormal ... ORPHA:100924
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Temple Syndrome
Precocious puberty, Bifid uvula, Decreased response to growth hormone stimulation test, Type II d... ORPHA:254516
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Polydipsia, Elevated circulating parathyroid hormone level, Hypercalcemia, Par... OMIM:617994
Septo-Optic Dysplasia Spectrum
Polydipsia, Tracheoesophageal fistula, Esophageal atresia, Constipation, Anterior pituitary hypop... ORPHA:3157
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Hypocalcemia, Hypergonadotropi... OMIM:606407
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Chops Syndrome
Gastroparesis, Gastroesophageal reflux, Constipation OMIM:616368
Schaaf-Yang Syndrome
Gastroesophageal reflux, Hypogonadism, Skin-picking, Polyphagia, Constipation, Impulsivity OMIM:615547
Gracile Syndrome
Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul... OMIM:603358
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Gastroparesis, Dysphagia, Bowel incontinence ORPHA:90291
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Polydipsia, Elevated circulating parathyroid hormone level, Pancreatic adenocarcino... ORPHA:99880
Intrinsic Factor Deficiency
Paresthesia, Somatic sensory dysfunction, Reduced haptoglobin level, Absence of intrinsic factor OMIM:261000
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Beta-Thalassemia
Cholelithiasis, Hepatitis, Splenomegaly, Irritability, Hypogonadotropic hypogonadism, Abnormality... ORPHA:848
Parathyroid Carcinoma
Peptic ulcer, Polydipsia, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, ... ORPHA:143
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Dysphagia, Intestinal pseudo-obstruction OMIM:607459
Wolfram Syndrome
Gastrointestinal hemorrhage, Male hypogonadism, Polydipsia, Abnormal mesentery morphology, Hypogo... ORPHA:3463
Angelman Syndrome
Self-injurious behavior, Gastroesophageal reflux, Vomiting, Precocious puberty in females, Delaye... ORPHA:72
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Gastroparesis, Bruxism, Gastrointestinal dysmotility, Constipation... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Gastroparesis, Bruxism, Gastrointestinal dysmotility, Constipation... ORPHA:352665
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Gastroparesis OMIM:614052
Rabson-Mendenhall Syndrome
Precocious puberty, Increased circulating androgen concentration, Polydipsia, Insulin-resistant d... ORPHA:769
Intellectual Developmental Disorder, Autosomal Dominant 72
Polyphagia, Attention deficit hyperactivity disorder, Overfriendliness OMIM:620439
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Microvesicular hepatic steatosis, Cirrhosis, Seborrheic dermatitis, Elevated hepatic iron concent... OMIM:300868
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Aggressive b... OMIM:271980
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia ORPHA:171829
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Osteoarthritis, Hepat... OMIM:606069
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Neonatal hyperbilirubinemia, Vomiting, Hiatus hernia, Hyperactivity OMIM:609727
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Polyphagia, Delayed puberty, Increased blood urea nitrogen, Membranoprolifera... ORPHA:251004
X-Linked Creatine Transporter Deficiency
Ataxia, Chorea, Ileus, Self-mutilation, Aganglionic megacolon, Constipation, Hyperactivity, Abnor... ORPHA:52503
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Chorea, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impu... ORPHA:500180
Ochoa Syndrome
Constipation, Polydipsia, Bowel incontinence ORPHA:2704
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Elevated circulating para... ORPHA:79444
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Foxp1 Syndrome
Decreased circulating iron concentration, Recurrent otitis media, Attention deficit hyperactivity... ORPHA:391372
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Nephronophthisis 9
Polydipsia OMIM:613824
Juvenile Huntington Disease
Depression, Chorea, Gait ataxia, Irritability, Hyperactivity, Ataxia, Progressive cerebellar ataxia ORPHA:248111
Cebalid Syndrome
Polyphagia, High palate OMIM:618774
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polydipsia, Diarrhea, Hypomagnesemia, Vomitin... OMIM:241200
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Abnormal temper tantrums, Small pituitary gland, Gastroesophageal reflux, Xer... ORPHA:398069
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Emotional lability, Impulsivity OMIM:615538
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Gait ataxia, Hepatic steatosis, Hypertriglyceridemia, Cirrhosis, Hyperactivity,... ORPHA:363400
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Brain-Lung-Thyroid Syndrome
Unexplained fevers, Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concent... ORPHA:209905
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, I... OMIM:615710
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Attention deficit hyperactivity disorder, Hypogonadism ORPHA:281090
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Gastroesophageal reflux, Hyperactivity OMIM:617182
Occipital Horn Syndrome
Gastroesophageal reflux, Gastroparesis, Abnormal esophagus physiology, Esophagitis, Dysphagia, Po... ORPHA:198
Gitelman Syndrome
Diarrhea, Type II diabetes mellitus, Parathyroid adenoma, Tubulointerstitial nephritis, Polydipsi... ORPHA:358
Aceruloplasminemia
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl... OMIM:604290
Infantile Nephropathic Cystinosis
Vomiting, Polydipsia, Abnormality of thyroid physiology, Hypokalemia, Hypophosphatemia, Constipat... ORPHA:411629
Acquired Central Diabetes Insipidus
Diabetes insipidus, Polydipsia ORPHA:95626
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Diarrhea, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Gas... OMIM:147060
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis... OMIM:614602
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Elevated circulating para... ORPHA:79443
Juvenile Nephropathic Cystinosis
Hypouricemia, Vomiting, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic t... ORPHA:411634
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Temperature instability, Impaired pain sensation, De... OMIM:176270
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Gastroesophageal reflux, Bruxism, Inappropriate laughter, Recurrent hand... OMIM:156200
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Splenom... ORPHA:75563
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea... OMIM:615935
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Xerost... ORPHA:398079
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Polydipsia,... ORPHA:537
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Vomiting, Pancreatic adenocarcinoma, Chronic ca... ORPHA:103918
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Portal ... ORPHA:465508
Erdheim-Chester Disease
Polydipsia, Fever, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Ataxia, Diabetes insi... ORPHA:35687
Acute Transverse Myelitis
Paralytic ileus, Gastroparesis, Constipation ORPHA:139417
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Diarrhea, Recurrent fever, Hypopituitarism, He... ORPHA:231226
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ... OMIM:167800
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Gastroesophageal reflux, Depression, Recurrent... ORPHA:449291
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Bardet-Biedl Syndrome 17
Hypogonadism, Polydipsia OMIM:615994
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Paresthesia, Adrenocorticotropic h... ORPHA:251937
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Type II diabetes melli... OMIM:269700
Wagro Syndrome
Emotional lability, Low frustration tolerance, Polyphagia, Aggressive behavior, Compulsive behavi... OMIM:612469
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Hepatic steatosis, Spl... OMIM:608594
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Polydipsia, Hypomagnesemia, Exo... OMIM:219800
Man1B1-Cdg
Polyphagia ORPHA:397941
Optic Atrophy 11
Stereotypical body rocking, Splenomegaly, Dysmetria, Attention deficit hyperactivity disorder, Co... OMIM:617302
Teratoma, Pineal
Polydipsia OMIM:273120
Fg Syndrome 3
Hyperactivity, Chronic constipation, Pyloric stenosis OMIM:300406
Luscan-Lumish Syndrome
Recurrent otitis media, Polyphagia, Aggressive behavior OMIM:616831
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroesophageal reflux, Gastroparesis, Gastrostomy tube feeding in infancy, Gastrointestinal dys... ORPHA:500150
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... OMIM:609152
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype... ORPHA:91351
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Beta-Thalassemia Major
Hepatic fibrosis, Abnormality of iron homeostasis, Diarrhea, Recurrent fever, Hypopituitarism, He... ORPHA:231214
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Heat intolerance, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Prot... ORPHA:98794
Arima Syndrome
Hepatic fibrosis, Polydipsia, Hepatic steatosis, Cirrhosis, Ataxia, Hepatomegaly, Esophageal varix OMIM:243910
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Gastroesophageal reflux, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:620242
Metachromatic Leukodystrophy
Addictive behavior, Abnormal stomach morphology, Emotional lability, Abnormal duodenum morphology... ORPHA:512
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent fever, Recurrent otitis media, Anorexia, ... OMIM:619381
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Polydipsia OMIM:266900
Dihydropyrimidinase Deficiency
Elevated circulating thymine concentration, Elevated circulating aspartate aminotransferase conce... OMIM:222748
Argininemia
Portal fibrosis, Vomiting, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia,... OMIM:207800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... ORPHA:766
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Williams Syndrome
Type II diabetes mellitus, Overfriendliness, Ataxia, Chronic otitis media, Rectal prolapse, Preco... ORPHA:904
Cardiospondylocarpofacial Syndrome
Gastroparesis, Gastroesophageal reflux, Feeding difficulties OMIM:157800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Self-injurious behavior, Bifid uvula, Fixated interests, Recurrent pneumonia,... OMIM:620330
Hypomagnesemia 3, Renal
Vomiting, Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Pol... OMIM:248250
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Emotional lability, Self-mutilation, Polyphagia, Aggressive behavior, High palate, Restlessness, ... ORPHA:251028
Nephronophthisis 11
Hepatic fibrosis, Polydipsia OMIM:613550
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Fever, Recurrent fever, Chron... OMIM:301074
Oligomeganephronia
Elevated circulating creatinine concentration, Polydipsia ORPHA:2260
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Polydipsia, Hypokalemia, Constipation ORPHA:18
Ethylene Glycol Poisoning
Vomiting, Hypocalcemia, Hypothermia, Addictive alcohol use, Gastritis, Euphoria, Ataxia, Nausea, ... ORPHA:31826
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Recurrent hand flapping, Skin rash, Attention deficit hyperactivity disorder, Hyperactivi... OMIM:617600
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Abnormality of adrenal physiology, Adrenal insufficiency, Increased ... ORPHA:43
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Chronic oral candidiasis OMIM:212050
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Dysmetria, Chronic constipation, Aggressive behavior, Polyphagia, Hypera... ORPHA:96121
Nephronophthisis 3
Hepatic fibrosis, Polydipsia OMIM:604387
Nephronophthisis 4
Polydipsia OMIM:606966
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... OMIM:618108
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Primary adrenal insufficiency, Dysmetria, Decreased circulating cortisol level... ORPHA:139396
Adnp Syndrome
Abnormal temper tantrums, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Chronic c... ORPHA:404448
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Nephronophthisis 1
Polydipsia OMIM:256100
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Gastroesophageal reflux, Decreased response to growth hormone stimulation te... OMIM:615873
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cleft so... OMIM:301068
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Female hypogonadism, Chronic mucocutaneous candidia... OMIM:240300
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro... OMIM:222470
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... ORPHA:54595
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... ORPHA:85327
Proximal Renal Tubular Acidosis
Vomiting, Diarrhea, Polydipsia, Hypokalemia, Bicarbonaturia ORPHA:47159
Choreoacanthocytosis
Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Weight loss, Lingual dystonia, D... ORPHA:2388
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Psoriasiform dermatitis, Lymphocytic infiltr... OMIM:616100
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Emotional la... OMIM:219090
Renal Hypoplasia
Polydipsia ORPHA:93101
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Keratitis, Recurrent fever, Osteomyelitis, Emotional lability, Self-mutilatio... OMIM:256800
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Unusual gastrointestinal infection, Hyperactivity, Ataxia ORPHA:760
Syndromic Diarrhea
Hepatic fibrosis, Intractable diarrhea, Abnormality of the liver, Villous atrophy, Splenomegaly, ... ORPHA:84064
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Type I d... OMIM:614700
1P36 Deletion Syndrome
Self-injurious behavior, Gastroesophageal reflux, Annular pancreas, Hypogonadism, Abnormality of ... ORPHA:1606
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Fever, Splenomegaly, Skin rash,... ORPHA:809
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis ORPHA:160148
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:613280
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent skin infections, Bronchie... OMIM:616576
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Endocarditis, Gastrointestinal h... ORPHA:73263
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Gait ataxia, Emotional lability, Dysmetria, Hyperactivity, Dysphagia, Dysdiadochokinesis,... OMIM:610217
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... OMIM:620367
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Pneumonia, Diarrhea, Atopic dermatitis, Hepatitis, Fever, Incre... OMIM:615846
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... OMIM:612716
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Hyperesthesia, Unexplained fevers, Septic arthritis, Somatic sensory dysfunct... ORPHA:642
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Recurrent fever, Cholestasis, Elevated c... OMIM:619573
Weaver Syndrome
Polyphagia OMIM:277590
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormal temper tantrums, Bacterial endocarditis, Abnormality o... ORPHA:2072
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy OMIM:616393
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, Hy... ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, Hy... ORPHA:424
Arteriosclerosis, Severe Juvenile
Delayed puberty, Gastric ulcer OMIM:208060
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Diarrhea ORPHA:2575
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag... ORPHA:2538
Alström Syndrome
Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes me... ORPHA:64
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Xerostomia, Hep... ORPHA:227982
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hyperactivity, Dysphagia, Motor stereotypy ORPHA:447997
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Xerostomia, Hep... ORPHA:227990
Chromosome 1P36 Deletion Syndrome, Distal
Bifid uvula, Gastroesophageal reflux, Congenital hypothyroidism, Oppositional defiant disorder, S... OMIM:607872
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Pneumonia, Gastroesophageal reflux, Abnormal fear-induced behavior, Inte... ORPHA:353281
Coffin-Siris Syndrome 1
Intestinal malrotation, Gait ataxia, Aggressive behavior, Compulsive behaviors, High palate, Duod... OMIM:135900
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Unconjugated hyperbilirubinemia, Esophageal spasms, Red... ORPHA:447
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer, Arthritis OMIM:161700
Autoimmune Lymphoproliferative Syndrome
Uveitis, Thyroid adenoma, Hepatitis, Hypersplenism, Recurrent aphthous stomatitis, Thyroid carcin... ORPHA:3261
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Decreased circulating iron concentration, Gastroesophageal reflux, Increased ... ORPHA:438213
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Decreased resting energy expenditure, Impaired oral bolus formation, Impaired oropharyngeal swall... ORPHA:404454
Monosomy 22Q13.3
Bruxism, Obesity, Hyperactivity, Hair-pulling ORPHA:48652
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Narrow palate, Pneumonia, Gastroesophageal reflux, Abnormal fear-induced... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Narrow palate, Pneumonia, Gastroesophageal reflux, Abnormal fear-induced... ORPHA:353277
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Viss Syndrome
High, narrow palate, Bifid uvula, Atopic dermatitis, Gastroesophageal reflux, Broad uvula, Eczema... OMIM:619472
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration OMIM:616959

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 Cckbr

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 Cckbr.

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

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MGI Allele Allele Type Produced
Cckbrtm449183(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cckbrem1(IMPC)H Exon Deletion Mice

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