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Gene: Cckbr MGI:99479

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating iron level Cckbrem1(IMPC)H HOM Early adult 5.69×10-05
abnormal autopod morphology Cckbrem1(IMPC)H HOM Early adult 2.72×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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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
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Nausea, Abnormal gastric mu... ORPHA:2494
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Central Diabetes Insipidus
Fever, Hyponatremia, Anorexia, Diarrhea, Depression, Polydipsia, Diabetes insipidus ORPHA:178029
Schizophrenia 15
Hyperactivity OMIM:613950
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Gastroparesis, ... OMIM:619350
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hereditary Central Diabetes Insipidus
Fever, Diarrhea, Irritability, Vomiting, Polydipsia, Diabetes insipidus ORPHA:30925
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:616860
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain OMIM:277320
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:615234
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, At... ORPHA:48818
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Obesity
Decreased resting energy expenditure OMIM:601665
Kleine-Levin Syndrome
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, D... ORPHA:33543
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Polyphagia ORPHA:329249
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Dubin-Johnson Syndrome
Fever, Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Jaundice,... ORPHA:234
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Immunodeficiency 77
Gastroparesis OMIM:619223
Cystinosis
Fever, Portal hypertension, Malabsorption, Nephrogenic diabetes insipidus, Hypothyroidism, Hypoka... ORPHA:213
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... ORPHA:98793
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Bronchiectasis, Recurrent fever OMIM:619468
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Gastroparesis, Decreased response to growth hormone stimulation test, Anterior... ORPHA:98754
Reynolds Syndrome
Fever, Hepatomegaly, Skin rash, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthrit... ORPHA:779
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Chorea, Depression, Irritability, Abnormal circul... ORPHA:399
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... ORPHA:300298
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... ORPHA:231222
Mungan Syndrome
Intestinal pseudo-obstruction, Hypoperistalsis, Gastroparesis, Abdominal pain OMIM:611376
Pick Disease Of Brain
Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl... OMIM:172700
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Vomiting, Constipation, Unexplained fevers, Polydipsia, Hypernatremia, Diabetes ins... OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Irritability, Vomiting, Constipation, Unexplained fevers, Polydip... OMIM:125800
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Chorea, Depression, Irritabili... ORPHA:66624
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Whipple Disease
Fever, Hepatomegaly, Hyponatremia, Gastrointestinal hemorrhage, Ataxia, Myositis, Anorexia, Malab... ORPHA:3452
Young-Onset Parkinson Disease
Restless legs, Gastroparesis, Impulsivity, Diarrhea, Constipation, Agitation, Nausea ORPHA:2828
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Hyperinsulinemia, Decreased circulating free fatty acid level, Agitation, Type I di... ORPHA:276575
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Agitation, Type I diabetes mellitus, Hyperinsu... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Maternal diabetes, Maturity-onset diabetes of the young, Hyperinsulinemia, Decrease... ORPHA:324575
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Decreased circulating free fatty acid level, Agitation, Hyperinsulinemic hypoglycem... ORPHA:276556
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis, Polyphagia OMIM:620195
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention ORPHA:1876
Prader-Willi Syndrome
Diabetes mellitus, Gastroparesis, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Gastrointestinal dysmotility, Hyper... OMIM:603041
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Feeding difficulties, Attention deficit hyperactivity disorder, Increased resti... ORPHA:369873
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
Familial Cold Urticaria
Fever, Dysesthesia, Arthritis, Conjunctivitis, Polydipsia ORPHA:47045
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Episcleritis, Puberty and gonadal dis... ORPHA:525731
Leptin Deficiency Or Dysfunction
Hypogonadism, Recurrent pneumonia, Polyphagia, Decreased serum leptin OMIM:614962
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Glo... OMIM:234500
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Frontotemporal Dementia
Irritability, Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
East Syndrome
Salt craving, Ataxia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomag... ORPHA:199343
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Hypocalcemia, Vomiting, Eleva... OMIM:619991
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Polyphagia OMIM:617885
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia OMIM:605899
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Nephrogenic Diabetes Insipidus
Fever, Anorexia, Nephrogenic diabetes insipidus, Constipation, Polydipsia, Hypernatremia ORPHA:223
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... OMIM:619079
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Constipation, Gastroesophageal reflux, Gastroparesis OMIM:610131
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Constipation, Pol... ORPHA:228402
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... OMIM:614946
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Proximal Spinal Muscular Atrophy
Gastroparesis, Constipation, Gastroesophageal reflux, Dysphagia, Poor suck ORPHA:70
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Ataxia ORPHA:411515
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Eczema, Aggressive behavior, Depression, Irritabil... OMIM:261600
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hypokalemia, Hyperaldosteronism, Dexa... ORPHA:369929
Gitelman Syndrome
Salt craving, Ataxia, Hypokalemia, Increased circulating renin level, Vomiting, Constipation, Hyp... OMIM:263800
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level OMIM:613677
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydips... ORPHA:231580
Panhypophysitis
Hyponatremia, Decreased serum testosterone concentration, Decreased circulating cortisol level, R... ORPHA:95513
14Q11.2 Microduplication Syndrome
Hypothyroidism, Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,... OMIM:613490
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Gastroparesis, Testicular atrophy, Dysphagia OMIM:157640
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circ... OMIM:239200
Mgat2-Cdg
Gastroparesis, Abnormality of the endocrine system, Feeding difficulties, Gastroesophageal reflux... ORPHA:79329
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Elevated transferr... ORPHA:79230
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... ORPHA:293987
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gastroparesis, Bowel incontinence OMIM:618877
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Gastroesophageal reflux, Compulsive behaviors, Attention deficit hyperactivity dis... OMIM:619927
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Agg... ORPHA:84081
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Hypokalemia, Dysdiadochokinesis, Increased circulating renin level, Hyperal... OMIM:612780
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Dysphagia ORPHA:85443
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Intestinal pseudo-obstruction, Gastroparesis ORPHA:70595
Autosomal Dominant Progressive External Ophthalmoplegia
Hyperthyroidism, Gastroparesis, Diabetes mellitus, Constipation, Gastroesophageal reflux, Dysphag... ORPHA:254892
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hepatic fibrosis, Hypoalbuminemia,... ORPHA:247585
Apparent Mineralocorticoid Excess
Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Decreased circulating aldoste... ORPHA:320
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Helix Syndrome
Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypokalemia, Polydipsia, Heat intolerance OMIM:617671
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Pyloric stenosis, Jaundice, Hypothyroidism, Apl... ORPHA:93111
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Increased fecal coproporphyrin 3, Abnormal circulating porphyrin conc... ORPHA:100924
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Type II diabetes melli... ORPHA:254516
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Esophageal atresia, Tracheoesophageal fistula, ... ORPHA:3157
Trisomy 18P
High, narrow palate, Polyphagia, Pyloric stenosis, Attention deficit hyperactivity disorder ORPHA:1715
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Ataxia, Malabsorption, Abnormal mesentery morphol... ORPHA:3463
Bronchogenic Cyst
Fever, Abnormal peritoneum morphology, Pneumonia, Abnormal stomach morphology, Paresthesia, Dysph... ORPHA:2357
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Polyphagia, Hypocalcemia, Decreased response to growth hormone st... OMIM:606407
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... ORPHA:446
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Schaaf-Yang Syndrome
Impulsivity, Gastroesophageal reflux, Constipation, Skin-picking, Hypogonadism, Polyphagia OMIM:615547
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Abnormal par... ORPHA:99880
Chops Syndrome
Constipation, Gastroesophageal reflux, Gastroparesis OMIM:616368
Systemic Sclerosis
Gastroparesis, Bowel incontinence, Intestinal bleeding, Gastroesophageal reflux, Dysphagia ORPHA:90291
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Abnormal par... ORPHA:143
Intrinsic Factor Deficiency
Somatic sensory dysfunction, Reduced haptoglobin level, Paresthesia, Absence of intrinsic factor OMIM:261000
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Dysphagia, Gastroparesis OMIM:607459
Beta-Thalassemia
Hepatomegaly, Abnormality of temperature regulation, Hypogonadotropic hypogonadism, Splenomegaly,... ORPHA:848
Angelman Syndrome
Abnormality of the gastrointestinal tract, Hyperactivity, Ataxia, Precocious puberty in females, ... ORPHA:72
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube f... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube f... ORPHA:352665
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Gastroparesis OMIM:614052
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Seborrheic dermatitis, Microvesicular hepatic steatosis, High palate, Cirrhosis, El... OMIM:300868
Rabson-Mendenhall Syndrome
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... ORPHA:769
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis ORPHA:382
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-a... OMIM:271980
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferr... OMIM:606069
6Q16 Microdeletion Syndrome
Polyphagia, Abnormal temper tantrums ORPHA:171829
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Hyperactivity, Hiatus hernia, Vomiting, Neonatal hyperbilirubinemia OMIM:609727
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Di... OMIM:615710
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Membranoproliferative glomerulonephritis, Hypercalcemia, Increased blood urea... ORPHA:251004
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Ataxia, Abnormal circulating creatine concentration, Chorea... ORPHA:52503
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Chorea, Gait ataxia, Dy... ORPHA:500180
Ochoa Syndrome
Polydipsia, Constipation, Bowel incontinence ORPHA:2704
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic... ORPHA:731
Juvenile Huntington Disease
Hyperactivity, Ataxia, Chorea, Gait ataxia, Depression, Irritability, Progressive cerebellar ataxia ORPHA:248111
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... OMIM:604250
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Recurrent skin infections, Decreased serum iron, Repetitive compulsive behavio... ORPHA:391372
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Ataxia, Diabetes insipidus... ORPHA:300373
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Chromosome 22Q13 Duplication Syndrome
Emotional lability, Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impulsivity, Impaired temperature sensation, Precocious puberty, Xerostomia, ... ORPHA:398069
Acute Lung Injury
Fever, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein concentration, Incr... ORPHA:178320
Cebalid Syndrome
High palate, Polyphagia OMIM:618774
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Bartter Syndrome, Type 2, Antenatal
Fever, Hyperchloriduria, Increased serum prostaglandin E2, Diarrhea, Hypochloremia, Hypokalemia, ... OMIM:241200
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Hyperinsulinemia, Gait ataxia, Cirrhos... ORPHA:363400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Recurrent skin infections, Anal fissure, Decreased serum iron, Esophageal st... ORPHA:89842
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Ataxia, Abnormal eat... ORPHA:209905
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Abnormality of the thyroid gland, V... OMIM:182290
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Attention deficit hyperactivity disorder, Abnormal stomach morphology ORPHA:281090
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Gastroesophageal reflux, Attention deficit hyperactivity disorder OMIM:617182
Aceruloplasminemia
Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Ch... OMIM:604290
Occipital Horn Syndrome
Gastroparesis, Gastroesophageal reflux, Esophagitis, Dysphagia, Poor suck, Abnormal esophagus phy... ORPHA:198
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus ORPHA:95626
Gitelman Syndrome
Maternal diabetes, Tubulointerstitial nephritis, Hypocalcemia, Hashimoto thyroiditis, Salt cravin... ORPHA:358
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypokalemia, Vomiting, Const... ORPHA:411629
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Chronic hepatiti... OMIM:614602
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... OMIM:615935
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Col... ORPHA:37042
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Malabsorption,... ORPHA:537
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Vomiting,... ORPHA:411634
Marchiafava-Bignami Disease
Fever, Ataxia, Aggressive behavior, Depression, Gait ataxia, Addictive alcohol use, Abnormal emot... ORPHA:221074
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Impaired temperature sensation, Precocious pub... ORPHA:398079
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Aggressive behavior, Self-injurious behavior, Macroglossia, Gastroesophageal reflux, Inap... OMIM:156200
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... OMIM:167800
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidism, Depressio... ORPHA:449291
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jau... ORPHA:231226
Methanol Poisoning
Hyperlipidemia, Diarrhea, Addictive alcohol use, Vomiting, Type II diabetes mellitus, Type I diab... ORPHA:31825
Acute Transverse Myelitis
Paralytic ileus, Constipation, Gastroparesis ORPHA:139417
Erdheim-Chester Disease
Fever, Osteomyelitis, Ataxia, Hypogonadotropic hypogonadism, Skin rash, Retroperitoneal fibrosis,... ORPHA:35687
Hypomagnesemia 3, Renal
Polydipsia, Elevated circulating parathyroid hormone level, Hyperuricemia, Hypomagnesemia OMIM:248250
Herpes Simplex Virus Encephalitis
Fever, Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration ORPHA:1930
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Diabetes mellitus, Oral-pharyngeal dysphagia, Splenomegaly, Reduced b... OMIM:219800
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism OMIM:615994
Staphylococcal Necrotizing Pneumonia
Fever, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein concentration, Acute... ORPHA:36238
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ... ORPHA:53035
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Choreoathetosis, Self-injurious behavior, High palate OMIM:620023
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Wagro Syndrome
Aggressive behavior, Agitation, Low frustration tolerance, Compulsive behaviors, Emotional labili... OMIM:612469
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... OMIM:609152
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Teratoma, Pineal
Polydipsia OMIM:273120
Man1B1-Cdg
Polyphagia ORPHA:397941
Fg Syndrome 3
Pyloric stenosis, Hyperactivity, Chronic constipation OMIM:300406
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, Skin rash, Neoplasm o... ORPHA:44890
Optic Atrophy 11
Hyperactivity, Ataxia, Splenomegaly, Dysmetria, Athetosis, Stereotypical body rocking, Constipati... OMIM:617302
Luscan-Lumish Syndrome
Recurrent otitis media, Polyphagia, Aggressive behavior OMIM:616831
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Hypogonadism, H... ORPHA:91351
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Ataxia, Abnormal eating behavior, Protruding tongue, Tongue thrusting, Constipatio... ORPHA:98794
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Irrit... OMIM:207800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, G... ORPHA:500150
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia OMIM:602522
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Hypersplenism, Spl... ORPHA:231214
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, In... OMIM:235200
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Impaired pa... OMIM:176270
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Depression, High palate, Gastroesophageal reflux, ... OMIM:620242
Arima Syndrome
Hepatomegaly, Ataxia, Esophageal varix, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis OMIM:243910
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Senior-Loken Syndrome 1
Polydipsia, Elevated circulating creatinine concentration OMIM:266900
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Hypoal... OMIM:619381
Metachromatic Leukodystrophy
Ataxia, Bowel incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobil... ORPHA:512
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... ORPHA:766
Williams Syndrome
Elevated circulating creatine kinase concentration, Rectal prolapse, Dysmetria, Gastroesophageal ... ORPHA:904
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Cardiospondylocarpofacial Syndrome
Feeding difficulties, Gastroesophageal reflux, Gastroparesis OMIM:157800
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Bicarbonaturia, Hypokalemia, Vomiting, Polydipsia ORPHA:47159
Ethylene Glycol Poisoning
Gastritis, Ataxia, Hypothermia, Hyperkalemia, Euphoria, Addictive alcohol use, Hypocalcemia, Vomi... ORPHA:31826
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Hypoka... OMIM:174900
Nephronophthisis 3
Polydipsia, Hepatic fibrosis OMIM:604387
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, ... OMIM:620330
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Aggressive behavior, Cleft palate, High palate, Emotional lability, Polyphagia, Sel... ORPHA:251028
Nephronophthisis 11
Polydipsia, Hepatic fibrosis OMIM:613550
Oligomeganephronia
Polydipsia, Elevated circulating creatinine concentration ORPHA:2260
Distal Renal Tubular Acidosis
Diarrhea, Hypokalemia, Vomiting, Constipation, Polydipsia ORPHA:18
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Fever, Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Peria... OMIM:301074
X-Linked Adrenoleukodystrophy
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Increased circulating ACTH level... ORPHA:43
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Skin rash, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flappi... OMIM:617600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Diarr... ORPHA:436159
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Chronic oral candidiasis OMIM:212050
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Dysmetria, Self-injurious behavior... ORPHA:96121
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ... OMIM:240300
Nephronophthisis 4
Polydipsia OMIM:606966
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Low frustration tol... ORPHA:163681
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Very long chain fatty acid accumulation, Ataxia, Decreased circulating cortisol le... ORPHA:139396
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial n... ORPHA:57777
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... OMIM:301068
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia, Anorexia, Decreased body weight ORPHA:51890
Adnp Syndrome
Aggressive behavior, Oral-pharyngeal dysphagia, Chronic constipation, Gastroesophageal reflux, Vo... ORPHA:404448
Nephronophthisis 1
Polydipsia OMIM:256100
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... OMIM:615873
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased circulating 12-HETE, Gastric ulcer, Esophageal ulceration, Decreased se... OMIM:618372
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Diarrhea, Lympho... OMIM:616100
Renal Hypoplasia
Polydipsia ORPHA:93101
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Hyperactivity, Osteomyelitis, Keratitis, Emotional lability, Self-mutilation,... OMIM:256800
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Hepatomegaly, Villous atrophy, Abnormality of the pancreas, Splenomegaly, J... OMIM:222470
Isolated Osteopoikilosis
Abnormality of the endocrine system, Addictive alcohol use, Cleft palate, Discoid lupus rash ORPHA:166119
Choreoacanthocytosis
Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Self-mutilation of tongue and lips due t... ORPHA:2388
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Hypouricemia, Ataxia, Unusual gastrointestinal infection ORPHA:760
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Bloody diarrhea, Abnormality of the liver... ORPHA:84064
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Emotio... OMIM:610217
Mixed Connective Tissue Disease
Fever, Hepatomegaly, Gastrointestinal hemorrhage, Myositis, Gastritis, Pericarditis, Skin rash, S... ORPHA:809
Cap Polyposis
Atrophic gastritis, Diarrhea, Hematochezia, Colorectal polyposis, Constipation ORPHA:160148
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormal repetitive mannerisms, Pyloric stenosis, Polyphagia, Hypothyr... ORPHA:1606
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:616576
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use, Vomiting, Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Nausea ORPHA:90065
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Splenomegaly, Chronic diarrhea,... OMIM:614700
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alp... OMIM:226730
Aicardi-Goutieres Syndrome 7
Fever, Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Splenomeg... OMIM:615846
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Pain insensitivity, Somatic sensory dysfunction, Fasciitis, Hypotherm... ORPHA:642
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Melena, Increased serum iron, Increased total iron binding capacit... ORPHA:98870
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use, Rheumatoid arthritis ORPHA:399180
Wolfram Syndrome 2
Diabetes mellitus, Gastric ulcer OMIM:604928
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Villous atrophy, Elevated circulating asp... OMIM:619573
Weaver Syndrome
Polyphagia OMIM:277590
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Splenomegaly, Abnormality of the spleen, Esophageal varix, Limb ataxia, Hepatosplenomegaly, Gastr... ORPHA:2072
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms OMIM:616393
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Diabetes mellitus, Cholangitis, Psoriasiform d... ORPHA:183675
Acute Promyelocytic Leukemia
Fever, Stomatitis, Addictive alcohol use, Anorexia ORPHA:520
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-... ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-... ORPHA:424
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Delayed puberty OMIM:208060
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Iridocyclitis, Xerostomia, He... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease... ORPHA:227982
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... ORPHA:2538
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Hypothyroidism, Submucous cleft hard palate, Congenital hypothyroidism, Bifi... OMIM:607872
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Pneumonia, Abnormal fear... ORPHA:353281
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Aggressive behavior, Cleft palate, Gait ataxia, Gastric u... OMIM:135900
Paroxysmal Nocturnal Hemoglobinuria
Esophageal spasms, Decreased serum iron, Jaundice, Odynophagia, Dysphagia, Unconjugated hyperbili... ORPHA:447
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Hepatitis, Thyroiditis,... ORPHA:3261
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Hypothermia, Abnormality of the endocrine system, Precocious puberty, Abnor... ORPHA:438213
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Impaired oropharyngeal swallow response, Chronic constipation, Impaired oral bolus formation, Dec... ORPHA:404454
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Pneumonia, Abnormal fear... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Pneumonia, Abnormal fear... ORPHA:353277
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Obesity, Bruxism ORPHA:48652
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron OMIM:616959
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472

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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